Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)	SNV Germline	ChrX:154367920	Pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA256051	rs_137853310	2 SubmittersRCV000012513
NM_001110556.2(FLNA):c.720+2T>C	SNV Germline	ChrX:154367639	Pathogenic	Heterotopia, periventricular, X-linked dominant Thyroid cancer, nonmedullary, 1	No Assertion Criteria Provided	CA278875	rs_863223295	2 SubmittersRCV000012514 RCV005887455
NM_001110556.2(FLNA):c.373+1G>A	SNV Germline	ChrX:154370872	Pathogenic	Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA278876	rs_863223296	1 SubmittersRCV000012516
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)	SNV Germline	ChrX:154364582	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Condition: not provided Neurodevelopmental delay Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA256053	rs_137853311	5 SubmittersRCV000012518 RCV001753412 RCV002273924 RCV001857335
NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter)	SNV Germline	ChrX:154351689	Pathogenic	Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA256054	rs_781910090	1 SubmittersRCV000012519
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)	SNV Germline	ChrX:154371001	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA256055	rs_28935169	2 SubmittersRCV000012520 RCV003764561
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)	SNV Germline	ChrX:154367844	Pathogenic/Likely pathogenic	Oto-palato-digital syndrome, type I Cleft palate Conductive hearing impairment Short stature not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome FLNA-related disorder Thyroid cancer, nonmedullary, 1 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA256056	rs_28935469	11 SubmittersRCV000012521 RCV000415125 RCV001000894 RCV002354156 RCV002509151 RCV003764562 RCV004545725 RCV005887457 RCV005887456
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)	SNV Germline	ChrX:154367505	Pathogenic/Likely pathogenic	Oto-palato-digital syndrome, type II Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant X-linked otopalatodigital spectrum disorders	Criteria Provided Multiple Submitters No Conflicts	CA221728	rs_28935470	6 SubmittersRCV000012522 RCV000178843 RCV001851804 RCV006646391
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)	SNV Germline	ChrX:154360233	Pathogenic/Likely pathogenic	Melnick-Needles syndrome Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant	Criteria Provided Multiple Submitters No Conflicts	CA341131	rs_28935472	7 SubmittersRCV000012524 RCV000523000 RCV006555319
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	SNV Germline	ChrX:154360199	Pathogenic/Likely pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type I Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341132	rs_28935473	9 SubmittersRCV000012525 RCV001382364 RCV005411293 RCV005632174
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	SNV Germline	ChrX:154360238	Pathogenic/Likely pathogenic	Frontometaphyseal dysplasia 1 Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Multiple Submitters No Conflicts	CA256058	rs_137853312	7 SubmittersRCV000012527 RCV000414151 RCV002228026 RCV002051782
NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly)	SNV Germline	ChrX:154371130	Pathogenic	Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA256059	rs_137853313	1 SubmittersRCV000012531
NM_001110556.2(FLNA):c.383C>T (p.Ala128Val)	SNV Germline	ChrX:154368081	Pathogenic	Heterotopia, periventricular, X-linked dominant Thyroid cancer, nonmedullary, 1	No Assertion Criteria Provided	CA256061	rs_137853315	2 SubmittersRCV000012533 RCV005887458
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	SNV Germline	ChrX:154364625	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant FLNA-related periventricular nodular heterotopia Condition: not provided FLNA-related disorder Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA256062	rs_80338841	10 SubmittersRCV000012536 RCV000020423 RCV001348560 RCV001563663 RCV001753413 RCV004734511 RCV005887459
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)	SNV Germline	ChrX:154367878	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type I Oto-palato-digital syndrome, type II Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA234009	rs_137853317	5 SubmittersRCV000012538 RCV000012539 RCV000153245 RCV000560177
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)	SNV Germline	ChrX:154354825	Pathogenic	Terminal osseous dysplasia-pigmentary defects syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Condition: not provided Thyroid cancer, nonmedullary, 1 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA341134	rs_387907371	9 SubmittersRCV000012542 RCV001205323 RCV001292939 RCV001091828 RCV005887460 RCV006386747
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)	SNV Germline	ChrX:154367403	Pathogenic/Likely pathogenic	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Fetal anomalies with a likely genetic cause	Criteria Provided Multiple Submitters No Conflicts	CA121667	rs_267606816	5 SubmittersRCV000012544 RCV004820820 RCV005222681 RCV006683848
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter)	SNV Germline	ChrX:154348897	Pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA259688	rs_398122812	2 SubmittersRCV000022819
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)	SNV Germline	ChrX:154371112	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Neurodevelopmental delay	Criteria Provided Conflicting Classifications	CA221696	rs_398123613	2 SubmittersRCV000079686 RCV001527616 RCV002273955
NM_001110556.2(FLNA):c.1429+8C>T	SNV Germline	ChrX:154366016	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA274722	rs_202181557	14 SubmittersRCV000079687 RCV000170402 RCV000231754 RCV001573339 RCV002390234
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)	SNV Germline	ChrX:154371009	Conflicting classifications of pathogenicity	Condition: not provided not specified Connective tissue disorder Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA221699	rs_200626788	11 SubmittersRCV000079688 RCV000259078 RCV000659650 RCV001089423 RCV004019541
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)	SNV Germline	ChrX:154362044	Pathogenic/Likely pathogenic	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Ventral hernia Patent ductus arteriosus Abnormality of the face Global developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA221702	rs_398123614	3 SubmittersRCV000175416 RCV001380531 RCV002226662
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)	SNV Germline	ChrX:154361368	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA221705	rs_398123615	4 SubmittersRCV000079691 RCV000640776 RCV000723682 RCV002321575
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)	SNV Germline	ChrX:154360472	Conflicting classifications of pathogenicity	Condition: not provided 9 conditions not specified Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA221709	rs_371677498	7 SubmittersRCV000079693 RCV000764863 RCV001001353 RCV001854407 RCV005338079
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)	SNV Germline	ChrX:154360416	Conflicting classifications of pathogenicity	not specified Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA221712	rs_398123617	9 SubmittersRCV000196824 RCV000514621 RCV001089189 RCV002453400 RCV004542758
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)	SNV Germline	ChrX:154359286	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA221715	rs_398123618	6 SubmittersRCV000079696 RCV000680538 RCV002228211 RCV002326796 RCV005055567
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)	SNV Germline	ChrX:154358500	Pathogenic	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Multiple Submitters No Conflicts	CA221720	rs_186214592	4 SubmittersRCV000176728 RCV003764758 RCV005252739
NM_001110556.2(FLNA):c.6227-7C>T	SNV Germline	ChrX:154352931	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA221726	rs_370491691	3 SubmittersRCV000079705 RCV001518324
NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=)	SNV Germline	ChrX:154349447	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA221730	rs_398123624	2 SubmittersRCV000079712 RCV003764759
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)	SNV Germline	ChrX:154366214	Conflicting classifications of pathogenicity	Condition: not provided not specified Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA231094	rs_200278701	10 SubmittersRCV000117041 RCV000259152 RCV001088786 RCV002313880
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)	SNV Germline	ChrX:154365248	Conflicting classifications of pathogenicity	Condition: not provided not specified Connective tissue disorder Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder See cases	Criteria Provided Conflicting Classifications	CA231097	rs_202029322	16 SubmittersRCV000117042 RCV000199806 RCV000659655 RCV001079137 RCV002313881 RCV004529961 RCV004584353
NM_001110556.2(FLNA):c.2023-8C>T	SNV Germline	ChrX:154364380	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA231100	rs_587780335	5 SubmittersRCV000117043 RCV001087153
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)	SNV Germline	ChrX:154361470	Conflicting classifications of pathogenicity	Condition: not provided not specified Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA231101	rs_370868704	9 SubmittersRCV000117044 RCV000225737 RCV001085193 RCV002444569 RCV004542839
NM_001110556.2(FLNA):c.1691+7C>A	SNV Germline	ChrX:154365129	Conflicting classifications of pathogenicity	Condition: not provided not specified Connective tissue disorder Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA231110	rs_199565118	10 SubmittersRCV000117048 RCV000225697 RCV000659656 RCV001080220
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)	SNV Germline	ChrX:154364124	Conflicting classifications of pathogenicity	Condition: not provided not specified Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA231111	rs_371501734	8 SubmittersRCV000117050 RCV000371186 RCV001078644 RCV002426663
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)	SNV Germline	ChrX:154362080	Conflicting classifications of pathogenicity	Condition: not provided not specified Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA231114	rs_199911951	8 SubmittersRCV000117053 RCV000200324 RCV001085804 RCV004019633 RCV004542840
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)	SNV Germline	ChrX:154350192	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA234011	rs_727503930	7 SubmittersRCV000234036 RCV000723787 RCV002312990
NM_001110556.2(FLNA):c.6291G>A (p.Leu2097=)	SNV Germline	ChrX:154352860	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA234017	rs_782667495	2 SubmittersRCV000153251 RCV003764939
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)	SNV Germline	ChrX:154359370	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA234021	rs_182074603	5 SubmittersRCV000723943 RCV001078871 RCV002316967 RCV003330511
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter)	SNV Germline	ChrX:154352370	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA274747	rs_786205202	1 SubmittersRCV000170424
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter)	SNV Germline	ChrX:154357444	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA274741	rs_786205197	1 SubmittersRCV000170419
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)	SNV Germline	ChrX:154359007	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Dilatation of aorta Connective tissue disorder Condition: not provided Thrombocytopenia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA274737	rs_200130356	19 SubmittersRCV000170415 RCV000193523 RCV000475968 RCV000582185 RCV000659667 RCV001579665 RCV003313943 RCV004020018
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)	SNV Germline	ChrX:154359566	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA274734	rs_377390031	5 SubmittersRCV000170413 RCV000640771 RCV001442515 RCV002321679
NM_001110556.2(FLNA):c.2565+1G>C	SNV Germline	ChrX:154362417	Pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA274729	rs_786205186	1 SubmittersRCV000170407
NM_001110556.2(FLNA):c.2023-6C>T	SNV Germline	ChrX:154364378	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA274728	rs_372021340	3 SubmittersRCV000170406 RCV000553609 RCV001704233
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu)	SNV Germline	ChrX:154364698	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA274726	rs_782193139	3 SubmittersRCV000170405 RCV001657940 RCV002228616
NM_001110556.2(FLNA):c.1829-2A>G	SNV Germline	ChrX:154364721	Pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA274725	rs_786205183	1 SubmittersRCV000170404
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter)	SNV Germline	ChrX:154364927	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274723	rs_786205182	2 SubmittersRCV000170403 RCV002221507
NM_001110556.2(FLNA):c.1430-1G>T	SNV Germline	ChrX:154365487	Pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA274716	rs_786205177	1 SubmittersRCV000170397
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter)	SNV Germline	ChrX:154366582	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA274718	rs_370490152	1 SubmittersRCV000170399
NM_001110556.2(FLNA):c.987+1G>A	SNV Germline	ChrX:154366731	Likely pathogenic	Heterotopia, periventricular, X-linked dominant FLNA-related disorder Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA274750	rs_786205204	3 SubmittersRCV000170426 RCV004545753 RCV005889657
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)	SNV Germline	ChrX:154364837	Conflicting classifications of pathogenicity	not specified Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA239820	rs_370735674	7 SubmittersRCV000225700 RCV000724189 RCV001510326 RCV004020066
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)	SNV Germline	ChrX:154364673	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211149	rs_200660642	13 SubmittersRCV000192550 RCV000659658 RCV000724601 RCV001080648 RCV004020068
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)	SNV Germline	ChrX:154362534	Conflicting classifications of pathogenicity	not specified Condition: not provided FLNA-related disorder Connective tissue disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Disorder of sexual differentiation Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA240862	rs_200053635	16 SubmittersRCV000198787 RCV000416150 RCV000509326 RCV000680542 RCV001087877 RCV001568328 RCV002313039 RCV005625368
NM_001110556.2(FLNA):c.2826+7A>G	SNV Germline	ChrX:154361972	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant FLNA-related disorder	Criteria Provided Conflicting Classifications	CA241179	rs_782545599	3 SubmittersRCV000175415 RCV001523057 RCV004537384
NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=)	SNV Germline	ChrX:154360513	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA242187	rs_369583365	3 SubmittersRCV000176285 RCV001492722 RCV002321696
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)	SNV Germline	ChrX:154360510	Conflicting classifications of pathogenicity	not specified Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA242190	rs_199530601	6 SubmittersRCV000176286 RCV000724187 RCV001082209 RCV002317022 RCV004734786
NM_001110556.2(FLNA):c.3348C>A (p.Asp1116Glu)	SNV Germline	ChrX:154360447	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA242192	rs_797044684	3 SubmittersRCV000723973 RCV002517695
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)	SNV Germline	ChrX:154359038	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA202041	rs_782129236	7 SubmittersRCV000176638 RCV000556510 RCV001589054 RCV002326964
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)	SNV Germline	ChrX:154352643	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA244988	rs_200524526	12 SubmittersRCV000724209 RCV001087795 RCV002314640 RCV005431524
NM_001110556.2(FLNA):c.623-7G>A	SNV Germline	ChrX:154367745	Conflicting classifications of pathogenicity	not specified Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA245194	rs_782670288	4 SubmittersRCV000178164 RCV000724477 RCV001481245
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)	SNV Germline	ChrX:154351920	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA245558	rs_797044739	6 SubmittersRCV000178456 RCV001252501 RCV002228788 RCV002362915
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys)	SNV Germline	ChrX:154351607	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA245621	rs_781984348	2 SubmittersRCV000178490 RCV002054117
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)	SNV Germline	ChrX:154351591	Conflicting classifications of pathogenicity	not specified Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA245624	rs_781878646	5 SubmittersRCV000198176 RCV000724800 RCV001338631 RCV002362916
NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=)	SNV Germline	ChrX:154348915	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA245803	rs_782774918	3 SubmittersRCV000178621 RCV001440632 RCV002408771
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=)	SNV Germline	ChrX:154348999	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA245806	rs_782372740	4 SubmittersRCV000178622 RCV002408772 RCV002516777
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)	SNV Germline	ChrX:154367532	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia 1	Criteria Provided Conflicting Classifications	CA246036	rs_797044753	4 SubmittersRCV000178845 RCV001312936 RCV004786491
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)	SNV Germline	ChrX:154366818	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided 9 conditions Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA246631	rs_192609440	10 SubmittersRCV000221578 RCV000471973 RCV000723962 RCV000764865 RCV002372101
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)	SNV Germline	ChrX:154366598	Conflicting classifications of pathogenicity	not specified Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211152	rs_199853721	13 SubmittersRCV000192632 RCV000762689 RCV001082645 RCV004020157
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	SNV Germline	ChrX:154348890	Conflicting classifications of pathogenicity	Abnormality of neuronal migration Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA210133	rs_369717556	9 SubmittersRCV000201336 RCV000866800 RCV001553477 RCV003987436 RCV004821998
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	SNV Germline	ChrX:154358228	Pathogenic/Likely pathogenic	Cardiac valvular dysplasia, X-linked Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250342	rs_797045044	4 SubmittersRCV000191086 RCV000794294 RCV003480546
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)	SNV Germline	ChrX:154352231	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant 9 conditions Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA206665	rs_797045581	6 SubmittersRCV000193289 RCV000660360 RCV000764861 RCV000806824 RCV001843491 RCV004020317
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)	SNV Germline	ChrX:154358526	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome 9 conditions Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA209144	rs_797045579	6 SubmittersRCV000194760 RCV002229019 RCV003224214 RCV003736630 RCV005562318
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)	SNV Germline	ChrX:154360078	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA207260	rs_372265042	8 SubmittersRCV000193642 RCV000860929 RCV001651057 RCV002345692 RCV004541240
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)	SNV Germline	ChrX:154362285	Conflicting classifications of pathogenicity	not specified Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA205241	rs_188212919	5 SubmittersRCV000192424 RCV000711668 RCV001088605 RCV002426921
NM_001110556.2(FLNA):c.2538C>T (p.Tyr846=)	SNV Germline	ChrX:154362445	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA208837	rs_782571710	3 SubmittersRCV000194585 RCV001450134 RCV005338100
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)	SNV Germline	ChrX:154366081	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA208448	rs_782791907	6 SubmittersRCV000194338 RCV001731512 RCV002229018 RCV003237759 RCV006659284
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)	SNV Germline	ChrX:154366215	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA206360	rs_782549299	6 SubmittersRCV000193102 RCV001041470 RCV001566737 RCV002314817
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)	SNV Germline	ChrX:154371180	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA208737	rs_782358007	5 SubmittersRCV000194522 RCV001520948 RCV001697271 RCV002317682 RCV004530114
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)	SNV Germline	ChrX:154348866	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322167	rs_200836471	5 SubmittersRCV000197706 RCV002229481 RCV005055705 RCV005562321
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)	SNV Germline	ChrX:154349469	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA319753	rs_371724771	5 SubmittersRCV000464368 RCV001411241 RCV002317721 RCV004530159
NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr)	SNV Germline	ChrX:154349681	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA323904	rs_863223626	3 SubmittersRCV000723196 RCV001853156
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)	SNV Germline	ChrX:154349751	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA319805	rs_782557713	9 SubmittersRCV000640791 RCV001086641 RCV002315602 RCV004530161
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)	SNV Germline	ChrX:154350930	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324986	rs_781881872	3 SubmittersRCV001065255 RCV003330567 RCV004020369
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)	SNV Germline	ChrX:154350998	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder not specified	Criteria Provided Conflicting Classifications	CA323932	rs_782739586	7 SubmittersRCV000756178 RCV001511862 RCV004020370 RCV004530160 RCV006445550
NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met)	SNV Germline	ChrX:154351640	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325178	rs_782084497	2 SubmittersRCV002029943 RCV004822937
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)	SNV Germline	ChrX:154352837	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA321104	rs_200200745	4 SubmittersRCV000196682 RCV001089214 RCV002315599 RCV004530157
NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His)	SNV Germline	ChrX:154353009	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA323761	rs_781956012	2 SubmittersRCV000505773 RCV001213910
NM_001110556.2(FLNA):c.6088G>A (p.Val2030Met)	SNV Germline	ChrX:154353139	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324507	rs_781920955	3 SubmittersRCV000199955 RCV003765248 RCV006725777
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile)	SNV Germline	ChrX:154354014	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA322914	rs_781809353	2 SubmittersRCV000198414 RCV002517179
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)	SNV Germline	ChrX:154354455	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA320672	rs_373089783	6 SubmittersRCV000640752 RCV001705113 RCV002317720 RCV003993882
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)	SNV Germline	ChrX:154354678	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320471	rs_56102764	17 SubmittersRCV000196068 RCV000473909 RCV000680536 RCV001084884 RCV004020363
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr)	SNV Germline	ChrX:154355045	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA319891	rs_863223639	3 SubmittersRCV000195541 RCV001316709
NM_001110556.2(FLNA):c.4666A>G (p.Asn1556Asp)	SNV Germline	ChrX:154358288	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA323968	rs_782605190	3 SubmittersRCV000199423 RCV002315601 RCV002515364
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn)	SNV Germline	ChrX:154359131	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA324962	rs_863223617	2 SubmittersRCV001057778 RCV001705110
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg)	SNV Germline	ChrX:154359544	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321659	rs_782774182	3 SubmittersRCV000197214 RCV001089123 RCV003298256
NM_001110556.2(FLNA):c.3887G>A (p.Arg1296His)	SNV Germline	ChrX:154359824	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324059	rs_863223623	4 SubmittersRCV000199516 RCV001853155 RCV006725776
NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val)	SNV Germline	ChrX:154360389	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA320587	rs_782395522	2 SubmittersRCV000196168 RCV001853151
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met)	SNV Germline	ChrX:154360487	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA321289	rs_781970327	2 SubmittersRCV000196871 RCV001046907
NM_001110556.2(FLNA):c.3259C>T (p.Arg1087Cys)	SNV Germline	ChrX:154360536	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325093	rs_782518956	3 SubmittersRCV000200512 RCV001396171 RCV005338105
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)	SNV Germline	ChrX:154361689	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321868	rs_375495397	4 SubmittersRCV001312410 RCV001705114 RCV002433879
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met)	SNV Germline	ChrX:154361992	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321493	rs_782180774	5 SubmittersRCV000197050 RCV000474233 RCV001818467 RCV002315598
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)	SNV Germline	ChrX:154362573	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome 9 conditions	Criteria Provided Conflicting Classifications	CA325253	rs_374130804	3 SubmittersRCV000200669 RCV002228871 RCV002492894
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln)	SNV Germline	ChrX:154362704	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA321022	rs_863223620	2 SubmittersRCV000196596 RCV001242749
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=)	SNV Germline	ChrX:154364097	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA322615	rs_782551055	5 SubmittersRCV000198128 RCV000640796 RCV003298255 RCV005641532
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val)	SNV Germline	ChrX:154364140	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324365	rs_781840723	5 SubmittersRCV000727059 RCV001043087 RCV002415839
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)	SNV Germline	ChrX:154364272	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Condition: not provided not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322638	rs_371707134	7 SubmittersRCV000844958 RCV001711508 RCV001818466 RCV001853153 RCV002317718
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)	SNV Germline	ChrX:154364878	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Microcephaly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325283	rs_200673062	3 SubmittersRCV000868360 RCV001252920 RCV002408867
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile)	SNV Germline	ChrX:154364881	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323733	rs_782776511	5 SubmittersRCV000199201 RCV001499994 RCV001836752 RCV004822015
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)	SNV Germline	ChrX:154365206	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked FLNA-related disorder	Criteria Provided Conflicting Classifications	CA325389	rs_743546	6 SubmittersRCV000200807 RCV002315603 RCV002228873 RCV001804931 RCV004530162
NM_001110556.2(FLNA):c.1616G>A (p.Gly539Asp)	SNV Germline	ChrX:154365211	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA324424	rs_863223618	3 SubmittersRCV000199879 RCV001853152
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)	SNV Germline	ChrX:154365465	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA323155	rs_782371735	6 SubmittersRCV000198621 RCV000549670 RCV001358666 RCV004020371 RCV006263746
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met)	SNV Germline	ChrX:154366087	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320844	rs_782495199	4 SubmittersRCV000196428 RCV001253466 RCV002229106 RCV002381670
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)	SNV Germline	ChrX:154366162	Conflicting classifications of pathogenicity	not specified Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA323321	rs_781915319	5 SubmittersRCV000198798 RCV001721274 RCV002229105 RCV002381669 RCV004541259
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)	SNV Germline	ChrX:154366336	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome FLNA-related disorder	Criteria Provided Conflicting Classifications	CA324252	rs_781879374	4 SubmittersRCV000199704 RCV000680543 RCV001857719 RCV004545760
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)	SNV Germline	ChrX:154366345	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324608	rs_200048692	12 SubmittersRCV000200054 RCV000659653 RCV000725233 RCV001084931 RCV004020366
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)	SNV Germline	ChrX:154367895	Conflicting classifications of pathogenicity	Condition: not provided 9 conditions Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322045	rs_782447567	4 SubmittersRCV000197586 RCV000764866 RCV001350783 RCV006659296
NM_001110556.2(FLNA):c.500C>A (p.Thr167Asn)	SNV Germline	ChrX:154367964	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321035	rs_863223641	4 SubmittersRCV000196613 RCV003765250 RCV006725778
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)	SNV Germline	ChrX:154350109	Pathogenic	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10577654	rs_782308324	2 SubmittersRCV000215801 RCV001224993
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)	SNV Germline	ChrX:154365477	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder not specified	Criteria Provided Conflicting Classifications	CA10561173	rs_782168634	7 SubmittersRCV000224666 RCV000640774 RCV002311065 RCV004532826 RCV004701299
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn)	SNV Germline	ChrX:154362061	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560852	rs_782045915	3 SubmittersRCV000232732 RCV006445593 RCV006725789
NM_001110556.2(FLNA):c.2405-4G>A	SNV Germline	ChrX:154362582	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560929	rs_368187218	2 SubmittersRCV000226047 RCV002315698
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn)	SNV Germline	ChrX:154365224	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561138	rs_782321294	2 SubmittersRCV000229495 RCV004020784
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)	SNV Germline	ChrX:154348997	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10559825	rs_782593788	3 SubmittersRCV001296877 RCV002311136 RCV004822029
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala)	SNV Germline	ChrX:154349514	Conflicting classifications of pathogenicity	Cardiovascular phenotype Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10587963	rs_886039104	2 SubmittersRCV000249081 RCV003765562
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)	SNV Germline	ChrX:154359631	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Aortic aneurysm, familial thoracic 2 Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10560614	rs_200615848	8 SubmittersRCV000538824 RCV000584552 RCV001711765 RCV002311205 RCV004542961
NM_001110556.2(FLNA):c.1042C>G (p.Pro348Ala)	SNV Germline	ChrX:154366585	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561292	rs_782643025	2 SubmittersRCV001859466 RCV002311167
NM_001110556.2(FLNA):c.76G>C (p.Ala26Pro)	SNV Germline	ChrX:154371170	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587975	rs_886038966	2 SubmittersRCV001859453 RCV002310891
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)	SNV Germline	ChrX:154353119	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II not specified	Criteria Provided Conflicting Classifications	CA10560164	rs_782221205	4 SubmittersRCV000276407 RCV003765587 RCV006701275
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)	SNV Germline	ChrX:154354260	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10560311	rs_782806731	5 SubmittersRCV000387082 RCV001407250 RCV004021087 RCV004542992
NM_001110556.2(FLNA):c.627G>A (p.Leu209=)	SNV Germline	ChrX:154367734	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561383	rs_782118838	2 SubmittersRCV000388027 RCV001481815
NM_001110556.2(FLNA):c.1107C>T (p.Pro369=)	SNV Germline	ChrX:154366429	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10604151	rs_886044791	2 SubmittersRCV000306175 RCV001435833
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)	SNV Germline	ChrX:154366597	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561294	rs_782007408	7 SubmittersRCV000346638 RCV000557383 RCV001571079 RCV004543003 RCV004822031
NM_001110556.2(FLNA):c.6770-5C>T	SNV Germline	ChrX:154352026	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560032	rs_370913359	4 SubmittersRCV000277797 RCV002519125 RCV006659376
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)	SNV Germline	ChrX:154351987	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560030	rs_376461465	4 SubmittersRCV000324298 RCV001088929 RCV002365306
NM_001110556.2(FLNA):c.7245C>T (p.Pro2415=)	SNV Germline	ChrX:154350119	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10604723	rs_886044822	2 SubmittersRCV000306739 RCV001434949
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala)	SNV Germline	ChrX:154360428	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560723	rs_368441729	3 SubmittersRCV000304105 RCV004021160 RCV003765619
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)	SNV Germline	ChrX:154353180	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560171	rs_781946802	4 SubmittersRCV000300291 RCV000702234 RCV004021206
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=)	SNV Germline	ChrX:154349839	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10559899	rs_369179210	6 SubmittersRCV000316860 RCV001469721 RCV002314022 RCV005434764
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)	SNV Germline	ChrX:154366627	Conflicting classifications of pathogenicity	not specified Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10605588	rs_886044859	6 SubmittersRCV000361495 RCV000725907 RCV001067290 RCV005338128
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=)	SNV Germline	ChrX:154366426	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10605751	rs_886044869	3 SubmittersRCV000288584 RCV002521972 RCV005562329
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)	SNV Germline	ChrX:154353052	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560153	rs_782779958	6 SubmittersRCV000726126 RCV001855201 RCV002314025 RCV003323495
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)	SNV Germline	ChrX:154360087	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560669	rs_200363918	7 SubmittersRCV000357488 RCV000690045 RCV000726216 RCV002356391
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)	SNV Germline	ChrX:154366211	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561221	rs_782598234	5 SubmittersRCV000293162 RCV002059257 RCV005831582
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=)	SNV Germline	ChrX:154351611	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559977	rs_201153928	4 SubmittersRCV000397344 RCV001081583 RCV002365323
NM_001110556.2(FLNA):c.5218-4G>A	SNV Germline	ChrX:154354715	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560351	rs_370196495	6 SubmittersRCV000726349 RCV001086540 RCV002338858
NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter)	SNV Germline	ChrX:154359008	Pathogenic	Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA10654933	rs_1057516198	1 SubmittersRCV000408810
NM_001110556.2(FLNA):c.6338A>G (p.Asn2113Ser)	SNV Germline	ChrX:154352813	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA16043236	rs_1057518479	3 SubmittersRCV005222919 RCV006725810 RCV000414095
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	SNV Germline	ChrX:154349490	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II 9 conditions Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559860	rs_201762017	9 SubmittersRCV000435841 RCV000559847 RCV000760220 RCV000762685 RCV002393056
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)	SNV Germline	ChrX:154349812	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559894	rs_373103712	4 SubmittersRCV000444645 RCV002230253 RCV002379331
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)	SNV Germline	ChrX:154362511	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder not specified	Criteria Provided Conflicting Classifications	CA10560917	rs_782669943	7 SubmittersRCV000727012 RCV001079050 RCV002446650 RCV004735505 RCV006436775
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr)	SNV Germline	ChrX:154362676	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560948	rs_201073998	4 SubmittersRCV000426387 RCV000547200 RCV002450976 RCV006268767
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)	SNV Germline	ChrX:154371181	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561466	rs_782598729	5 SubmittersRCV000539831 RCV000513921 RCV002374716
NM_001110556.2(FLNA):c.4918G>A (p.Gly1640Arg)	SNV Germline	ChrX:154357461	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA16608774	rs_1057524434	2 SubmittersRCV000418133 RCV002522679
NM_001110556.2(FLNA):c.3207+5T>C	SNV Germline	ChrX:154361303	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560758	rs_782555499	2 SubmittersRCV000427723 RCV003766366
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg)	SNV Germline	ChrX:154349481	Conflicting classifications of pathogenicity	not specified Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16609149	rs_1057520770	3 SubmittersRCV000427375 RCV001851053 RCV004619286
NM_001110556.2(FLNA):c.2608C>T (p.His870Tyr)	SNV Germline	ChrX:154362290	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16609151	rs_1057524473	3 SubmittersRCV000424847 RCV003766455 RCV006659473
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)	SNV Germline	ChrX:154366751	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA10561322	rs_371830740	7 SubmittersRCV000419413 RCV001214184 RCV002374687 RCV005407103 RCV005625600
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser)	SNV Germline	ChrX:154353704	Conflicting classifications of pathogenicity	not specified Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560238	rs_782549964	7 SubmittersRCV000502032 RCV000786134 RCV002230759 RCV005831606
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)	SNV Germline	ChrX:154354010	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA10560273	rs_782095418	5 SubmittersRCV000476019 RCV002348277 RCV004791466 RCV004584385
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)	SNV Germline	ChrX:154360127	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Single Submitter	CA16616451	rs_1060500716	1 SubmittersRCV002230317
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser)	SNV Germline	ChrX:154362491	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560912	rs_781846227	3 SubmittersRCV000459346 RCV002307501 RCV002318517
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)	SNV Germline	ChrX:154352226	Pathogenic	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16616627	rs_1060500717	3 SubmittersRCV000728731 RCV001387919
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)	SNV Germline	ChrX:154360272	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560695	rs_370202395	4 SubmittersRCV000513123 RCV002230319 RCV003488602 RCV006725825
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)	SNV Germline	ChrX:154364551	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hepatoblastoma	Criteria Provided Conflicting Classifications	CA10561034	rs_374295965	5 SubmittersRCV000462684 RCV000996069 RCV002418357 RCV001843519
NM_001110556.2(FLNA):c.6503-2A>C	SNV Germline	ChrX:154352449	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Single Submitter	CA16616646	rs_112363874	1 SubmittersRCV001379313
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)	SNV Germline	ChrX:154359551	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560601	rs_369768801	4 SubmittersRCV001508979 RCV002230323 RCV002323688
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu)	SNV Germline	ChrX:154366817	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10561329	rs_371600068	2 SubmittersRCV000728206 RCV002230761
NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val)	SNV Germline	ChrX:154351974	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA16621252	rs_1004772663	2 SubmittersRCV000486105 RCV003766698
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)	SNV Germline	ChrX:154364584	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10561041	rs_782563602	8 SubmittersRCV000728595 RCV002230953 RCV002313254 RCV001821400
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met)	SNV Germline	ChrX:154366313	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10561236	rs_781827791	2 SubmittersRCV000479665 RCV002231116
NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val)	SNV Germline	ChrX:154360383	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560710	rs_782318545	2 SubmittersRCV000489979 RCV002526013
NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg)	SNV Germline	ChrX:154368070	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA415251018	rs_1085307783	4 SubmittersRCV000489668 RCV006556079
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys)	SNV Germline	ChrX:154364684	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415241965	rs_1131691935	4 SubmittersRCV000494059 RCV001865554 RCV006386860
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)	SNV Germline	ChrX:154360020	Pathogenic	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Periventricular nodular heterotopia	Criteria Provided Multiple Submitters No Conflicts	CA415222631	rs_1557177663	3 SubmittersRCV000497491 RCV003766799 RCV004767308
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys)	SNV Germline	ChrX:154364363	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome FLNA-related disorder	Criteria Provided Conflicting Classifications	CA415239095	rs_1380007907	3 SubmittersRCV000498535 RCV001306738 RCV004527607
NM_001110556.2(FLNA):c.6846G>A (p.Glu2282=)	SNV Germline	ChrX:154351945	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560026	rs_781972193	3 SubmittersRCV000500948 RCV001491264 RCV002367687
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)	SNV Germline	ChrX:154352225	Conflicting classifications of pathogenicity	not specified 9 conditions Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560049	rs_781984274	4 SubmittersRCV000500138 RCV000764860 RCV002230984 RCV002367688
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met)	SNV Germline	ChrX:154352661	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560094	rs_201396725	6 SubmittersRCV000502222 RCV000686436 RCV001549890 RCV002367689
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly)	SNV Germline	ChrX:154352844	Conflicting classifications of pathogenicity	not specified Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560119	rs_370277156	4 SubmittersRCV000504288 RCV001692150 RCV002230985 RCV005841583
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)	SNV Germline	ChrX:154359317	Conflicting classifications of pathogenicity	not specified Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560569	rs_782426283	8 SubmittersRCV000504106 RCV000838677 RCV001085359 RCV000985096 RCV002314867
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)	SNV Germline	ChrX:154365247	Conflicting classifications of pathogenicity	not specified Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561145	rs_782450368	5 SubmittersRCV000503127 RCV001509132 RCV001857098 RCV004822079
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)	SNV Germline	ChrX:154368003	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection not specified Cardiac valvular dysplasia, X-linked Condition: not provided	Criteria Provided Conflicting Classifications	CA10561407	rs_782240483	6 SubmittersRCV002231175 RCV006725847 RCV000499997 RCV001196653 RCV001764485
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)	SNV Germline	ChrX:154371221	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561473	rs_782292045	5 SubmittersRCV000501455 RCV002056848 RCV002431459 RCV004541557
NM_001110556.2(FLNA):c.7333+1G>A	SNV Germline	ChrX:154350030	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA415183225	rs_1557175424	1 SubmittersRCV000656111
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)	SNV Germline	ChrX:154350999	Conflicting classifications of pathogenicity	not specified Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559960	rs_781823700	5 SubmittersRCV000516195 RCV001508977 RCV002231200 RCV002314899
NM_001110556.2(FLNA):c.4113C>T (p.Asn1371=)	SNV Germline	ChrX:154359513	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA519707561	rs_1557177508	3 SubmittersRCV000517801 RCV003766921 RCV005841588
NM_001110556.2(FLNA):c.6317A>G (p.Tyr2106Cys)	SNV Germline	ChrX:154352834	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560116	rs_781892077	3 SubmittersRCV000522458 RCV004609421 RCV006556177
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln)	SNV Germline	ChrX:154354282	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome not specified	Criteria Provided Conflicting Classifications	CA10560313	rs_782134110	3 SubmittersRCV000520698 RCV001306960 RCV006452712
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)	SNV Germline	ChrX:154354904	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection 9 conditions	Criteria Provided Conflicting Classifications	CA10560384	rs_782555986	5 SubmittersRCV000520883 RCV001084701 RCV004023535 RCV005398747
NM_001110556.2(FLNA):c.4898G>A (p.Arg1633His)	SNV Germline	ChrX:154357481	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560448	rs_782500981	3 SubmittersRCV000523870 RCV006659607 RCV006556167
NM_001110556.2(FLNA):c.3814C>T (p.Arg1272Cys)	SNV Germline	ChrX:154359897	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415222401	rs_1420631223	3 SubmittersRCV000519592 RCV001853670 RCV002316477
NM_001110556.2(FLNA):c.16T>C (p.Ser6Pro)	SNV Germline	ChrX:154371230	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA415255897	rs_1557180289	3 SubmittersRCV000524050 RCV001857974
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)	SNV Germline	ChrX:154349738	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337272867	rs_909387820	5 SubmittersRCV001591231 RCV002232268 RCV002384138
NM_001110556.2(FLNA):c.4143-1G>T	SNV Germline	ChrX:154359407	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415219093	rs_1557177485	1 SubmittersRCV002231779
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp)	SNV Germline	ChrX:154362014	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560844	rs_190437842	2 SubmittersRCV002231778 RCV002438369
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn)	SNV Germline	ChrX:154367927	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415249497	rs_1557179655	2 SubmittersRCV002231781 RCV002232265
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp)	SNV Germline	ChrX:154352640	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10560091	rs_782761341	3 SubmittersRCV002231783 RCV003330766 RCV004777719
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu)	SNV Germline	ChrX:154352883	Conflicting classifications of pathogenicity	Wolff-Parkinson-White pattern Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337274985	rs_968230475	5 SubmittersRCV000656208 RCV002231782 RCV003332193 RCV004787885 RCV005562387
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)	SNV Germline	ChrX:154353407	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10560201	rs_190712778	5 SubmittersRCV000532103 RCV001571401 RCV002358505 RCV004735600
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)	SNV Germline	ChrX:154359520	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560599	rs_376774130	6 SubmittersRCV000729237 RCV001079000 RCV002314983
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)	SNV Germline	ChrX:154365374	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561155	rs_782765195	4 SubmittersRCV000711667 RCV002231777 RCV004619325 RCV004735599
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met)	SNV Germline	ChrX:154366416	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10561253	rs_201681328	4 SubmittersRCV000537961 RCV001591230 RCV004822099 RCV005407713
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser)	SNV Germline	ChrX:154349563	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559870	rs_782383611	3 SubmittersRCV000560750 RCV001556338 RCV002395382
NM_001110556.2(FLNA):c.4945+3G>A	SNV Germline	ChrX:154357431	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Intellectual disability Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560442	rs_372673802	3 SubmittersRCV000525468 RCV001252499 RCV002341326
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr)	SNV Germline	ChrX:154359641	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560616	rs_782746289	3 SubmittersRCV000526244 RCV001786399 RCV003302829
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser)	SNV Germline	ChrX:154360026	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10560663	rs_781896277	2 SubmittersRCV002232258 RCV004772968
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)	SNV Germline	ChrX:154350159	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10559936	rs_202152952	4 SubmittersRCV000553794 RCV002377082 RCV003480675
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)	SNV Germline	ChrX:154351928	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia 9 conditions not specified Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10560021	rs_782275601	5 SubmittersRCV000528311 RCV000764859 RCV001821546 RCV002367847 RCV003389055
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met)	SNV Germline	ChrX:154353367	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560199	rs_782639698	5 SubmittersRCV000544722 RCV001561889 RCV002358506
NM_001110556.2(FLNA):c.2280+389T>A	SNV Germline	ChrX:154363633	Pathogenic	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA658659064	rs_1557178535	1 SubmittersRCV000577901
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)	SNV Germline	ChrX:154366562	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Melanoma	Criteria Provided Single Submitter	CA519709643	rs_1557179325	3 SubmittersRCV000577926 RCV002529037 RCV005898543
NM_001110556.2(FLNA):c.82A>G (p.Met28Val)	SNV Germline	ChrX:154371164	Pathogenic	Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA415255649	rs_1557180226	1 SubmittersRCV000577884
NM_001110556.2(FLNA):c.3095G>A (p.Arg1032His)	SNV Germline	ChrX:154361420	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II not specified	Criteria Provided Conflicting Classifications	CA10560779	rs_781782783	3 SubmittersRCV000584929 RCV001853959 RCV004586809
NM_001110556.2(FLNA):c.3555C>T (p.Cys1185=)	SNV Germline	ChrX:154360240	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA519708300	rs_1477689141	2 SubmittersRCV000591825 RCV002532371
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)	SNV Germline	ChrX:154365466	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561169	rs_61730768	6 SubmittersRCV000598415 RCV001085228 RCV002317335 RCV004735640
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)	SNV Germline	ChrX:154350973	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II not specified Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10559957	rs_782591917	6 SubmittersRCV000593881 RCV001518246 RCV001821721 RCV002368008 RCV004543341
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)	SNV Germline	ChrX:154350105	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10559929	rs_782289803	4 SubmittersRCV000595937 RCV000697313 RCV002315890 RCV003323625
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)	SNV Germline	ChrX:154360579	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560744	rs_782006734	5 SubmittersRCV000727456 RCV001421208 RCV002325135 RCV004586823
NM_001110556.2(FLNA):c.7052C>G (p.Ala2351Gly)	SNV Germline	ChrX:154351013	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10559962	rs_782583650	3 SubmittersRCV000593962 RCV002062106
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)	SNV Germline	ChrX:154366143	Conflicting classifications of pathogenicity	not specified Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561208	rs_782320818	7 SubmittersRCV000594598 RCV000863539 RCV003437298 RCV004024862
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)	SNV Germline	ChrX:154349473	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415180314	rs_1557175287	3 SubmittersRCV001508976 RCV001855225
NM_001110556.2(FLNA):c.5662G>A (p.Val1888Ile)	SNV Germline	ChrX:154353939	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560264	rs_782669152	2 SubmittersRCV000603707 RCV003767707
NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn)	SNV Germline	ChrX:154349541	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA415180992	rs_1485769153	4 SubmittersRCV001855278 RCV002313372 RCV005626111 RCV006265127
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=)	SNV Germline	ChrX:154353699	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560236	rs_367674709	4 SubmittersRCV000728023 RCV001080153 RCV002313356
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu)	SNV Germline	ChrX:154354915	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA415207674	rs_1557176627	3 SubmittersRCV002232770 RCV002313373 RCV005870682
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)	SNV Germline	ChrX:154359342	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10560573	rs_781976719	3 SubmittersRCV001052134 RCV002313358 RCV003238784
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)	SNV Germline	ChrX:154360571	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560743	rs_782406278	4 SubmittersRCV001239163 RCV001553199 RCV002313368 RCV003403430
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)	SNV Germline	ChrX:154361409	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560776	rs_781844419	6 SubmittersRCV001868125 RCV002261135 RCV002246005 RCV004025254
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)	SNV Germline	ChrX:154362742	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10560955	rs_371839875	6 SubmittersRCV000704079 RCV002313349 RCV004544811 RCV004791631
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp)	SNV Germline	ChrX:154364842	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415242304	rs_200116438	2 SubmittersRCV000793024 RCV002313350
NM_001110556.2(FLNA):c.1698C>G (p.Phe566Leu)	SNV Germline	ChrX:154364951	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561094	rs_781830848	2 SubmittersRCV002313374 RCV003767808
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)	SNV Germline	ChrX:154366139	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10561207	rs_372113435	5 SubmittersRCV001405516 RCV002264962 RCV004025253 RCV003987624 RCV005900076
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)	SNV Germline	ChrX:154349533	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415180901	rs_1557175308	3 SubmittersRCV002531894 RCV004527686 RCV004025271
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)	SNV Germline	ChrX:154349748	Conflicting classifications of pathogenicity	Inborn genetic diseases Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA337272875	rs_782190081	3 SubmittersRCV000624170 RCV001215878 RCV001562219
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu)	SNV Germline	ChrX:154360184	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10560685	rs_376726422	3 SubmittersRCV002233039 RCV002458054 RCV006650335
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=)	SNV Germline	ChrX:154360465	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560726	rs_781917512	3 SubmittersRCV000728255 RCV000640803 RCV002325249
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)	SNV Germline	ChrX:154349380	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559848	rs_377518545	4 SubmittersRCV000640759 RCV002259358 RCV003485620 RCV004025610
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)	SNV Germline	ChrX:154352775	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II 9 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA10560110	rs_782400832	4 SubmittersRCV000640747 RCV000764862 RCV003238797
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys)	SNV Germline	ChrX:154361403	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA415230375	rs_1187268269	3 SubmittersRCV002233046 RCV004777791
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys)	SNV Germline	ChrX:154365214	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA415243188	rs_1557178932	2 SubmittersRCV002233487 RCV004760667
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser)	SNV Germline	ChrX:154359014	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560530	rs_782349011	2 SubmittersRCV000640744 RCV006663043
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)	SNV Germline	ChrX:154360266	Pathogenic	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415224704	rs_1557177738	1 SubmittersRCV000640729
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe)	SNV Germline	ChrX:154351010	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415185222	rs_1557175646	2 SubmittersRCV002233041 RCV002360567
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)	SNV Germline	ChrX:154352222	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection Cardiac valvular dysplasia, X-linked	Criteria Provided Conflicting Classifications	CA337274538	rs_953454766	6 SubmittersRCV000640755 RCV001756067 RCV003387899 RCV004025609 RCV004788070
NM_001110556.2(FLNA):c.5686+1G>C	SNV Germline	ChrX:154353914	Likely pathogenic	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415200173	rs_1557176315	1 SubmittersRCV002233040
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)	SNV Germline	ChrX:154360535	Conflicting classifications of pathogenicity	FG syndrome 2 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560737	rs_369668866	2 SubmittersRCV001332003 RCV002233488
NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro)	SNV Germline	ChrX:154362500	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA415236386	rs_1347740802	2 SubmittersRCV002232799 RCV005632544
NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile)	SNV Germline	ChrX:154352343	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560059	rs_782562592	3 SubmittersRCV000657942 RCV002317904 RCV002534262
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile)	SNV Germline	ChrX:154352589	Conflicting classifications of pathogenicity	Connective tissue disorder FLNA-related disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560083	rs_367655833	3 SubmittersRCV000659674 RCV004533445 RCV003767912
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)	SNV Germline	ChrX:154359786	Conflicting classifications of pathogenicity	Connective tissue disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560637	rs_782412141	3 SubmittersRCV000659666 RCV001307125 RCV002369782
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys)	SNV Germline	ChrX:154361421	Conflicting classifications of pathogenicity	Connective tissue disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10560780	rs_782546714	3 SubmittersRCV000659661 RCV001066358 RCV001584517
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln)	SNV Germline	ChrX:154365429	Conflicting classifications of pathogenicity	Connective tissue disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10561160	rs_782539251	4 SubmittersRCV000659654 RCV001323349 RCV002464284 RCV005901415
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met)	SNV Germline	ChrX:154359635	Conflicting classifications of pathogenicity	Connective tissue disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415220875	rs_1569551635	2 SubmittersRCV000680539 RCV001239792
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)	SNV Germline	ChrX:154366398	Conflicting classifications of pathogenicity	Connective tissue disorder Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561251	rs_782090266	4 SubmittersRCV000680544 RCV000808311 RCV001575087 RCV004735742
NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter)	SNV Unknown	ChrX:154352019	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	No Assertion Criteria Provided	CA415187126	rs_1569551449	1 SubmittersRCV000681483
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met)	SNV Germline	ChrX:154358258	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415214750	rs_1181500076	4 SubmittersRCV001420603 RCV001653977 RCV002233140 RCV006725934
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)	SNV Germline	ChrX:154359846	Pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415222192	rs_1557177623	1 SubmittersRCV002233306
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)	SNV Germline	ChrX:154354944	Conflicting classifications of pathogenicity	Intellectual disability Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560389	rs_782351877	2 SubmittersRCV001260710 RCV002233446
NM_001110556.2(FLNA):c.3979+5G>A	SNV Germline	ChrX:154359727	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA891844349	rs_1569551642	3 SubmittersRCV002233254 RCV002264977 RCV005860130
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)	SNV Germline	ChrX:154361783	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560820	rs_782451202	2 SubmittersRCV002233562 RCV002440463
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)	SNV Germline	ChrX:154364956	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder not specified	Criteria Provided Conflicting Classifications	CA10561096	rs_782580317	3 SubmittersRCV000690722 RCV004535717 RCV005231276
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)	SNV Germline	ChrX:154367685	Pathogenic	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Multiple Submitters No Conflicts	CA415248831	rs_1569551861	2 SubmittersRCV000788202 RCV002232970
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)	SNV Germline	ChrX:154353628	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder FG syndrome 2	Criteria Provided Conflicting Classifications	CA10560228	rs_782359458	6 SubmittersRCV002233235 RCV001771953 RCV004025105 RCV004527743 RCV004788126
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn)	SNV Germline	ChrX:154359771	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415221592	rs_1557177584	2 SubmittersRCV002232833 RCV004820863
NM_001110556.2(FLNA):c.2565+1G>A	SNV Germline	ChrX:154362417	Pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415235599	rs_786205186	1 SubmittersRCV002233328
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp)	SNV Germline	ChrX:154367439	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA415248429	rs_1172505050	3 SubmittersRCV002233659 RCV003159156
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val)	SNV Germline	ChrX:154371169	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561464	rs_782637786	2 SubmittersRCV002233163 RCV004535709
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)	SNV Germline	ChrX:154354983	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560398	rs_782469665	4 SubmittersRCV000690268 RCV003736890 RCV005407887 RCV004822169
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)	SNV Germline	ChrX:154371121	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415255455	rs_1569551930	2 SubmittersRCV002233290 RCV002424658
NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys)	SNV Germline	ChrX:154351667	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10559986	rs_782129661	3 SubmittersRCV000711673 RCV001325801
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu)	SNV Germline	ChrX:154354689	Conflicting classifications of pathogenicity	FLNA-related disorder Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415206701	rs_1557176526	3 SubmittersRCV004527757 RCV003768117 RCV004619401
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)	SNV Germline	ChrX:154364273	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia 1 FG syndrome 2 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561009	rs_782287086	3 SubmittersRCV000714633 RCV000714634 RCV002532972 RCV004535771
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)	SNV Germline	ChrX:154366183	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection 9 conditions	Criteria Provided Conflicting Classifications	CA10561214	rs_782066542	4 SubmittersRCV001546023 RCV001862046 RCV002315302 RCV002485809
NM_001110556.2(FLNA):c.5275C>G (p.Pro1759Ala)	SNV Germline	ChrX:154354654	Conflicting classifications of pathogenicity	History of neurodevelopmental disorder Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415206466	rs_1382076574	3 SubmittersRCV000720969 RCV004760756 RCV006556583
NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met)	SNV Germline	ChrX:154354980	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10560396	rs_782751731	2 SubmittersRCV002318681 RCV002534931
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys)	SNV Germline	ChrX:154359255	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10560559	rs_192337215	3 SubmittersRCV001060925 RCV002315348 RCV005431900
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)	SNV Germline	ChrX:154361541	Conflicting classifications of pathogenicity	9 conditions Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10560791	rs_782445995	4 SubmittersRCV000767980 RCV001484126 RCV002313493 RCV006278062
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His)	SNV Germline	ChrX:154365139	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561118	rs_781852373	2 SubmittersRCV001224183 RCV002318721
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=)	SNV Germline	ChrX:154365461	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified FLNA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10561167	rs_782650242	6 SubmittersRCV001868376 RCV002318315 RCV003330921 RCV004535800 RCV005223145
NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys)	SNV Germline	ChrX:154366054	Conflicting classifications of pathogenicity	FG syndrome 2 Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561192	rs_367948333	3 SubmittersRCV001332001 RCV002318784 RCV003768147
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn)	SNV Germline	ChrX:154364654	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561055	rs_782718606	4 SubmittersRCV001054971 RCV001552337 RCV002317635
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)	SNV Germline	ChrX:154366608	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection 9 conditions Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561295	rs_371368679	3 SubmittersRCV002314533 RCV002477658 RCV003768132
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)	SNV Germline	ChrX:154354973	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA337276632	rs_782352193	3 SubmittersRCV000722508 RCV001862119
NM_001110556.2(FLNA):c.2147G>A (p.Gly716Asp)	SNV Germline	ChrX:154364155	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II not specified	Criteria Provided Conflicting Classifications	CA10560999	rs_782697176	3 SubmittersRCV000723246 RCV005223146 RCV006459864
NM_001110556.2(FLNA):c.1287G>A (p.Thr429=)	SNV Germline	ChrX:154366166	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561210	rs_782263267	3 SubmittersRCV000729937 RCV002060986 RCV002386296
NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu)	SNV Germline	ChrX:154361563	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560795	rs_782513930	3 SubmittersRCV000731636 RCV003768214 RCV006663249
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile)	SNV Germline	ChrX:154364615	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561046	rs_373286506	3 SubmittersRCV000732451 RCV001855685 RCV002406668
NM_001110556.2(FLNA):c.4857C>T (p.Leu1619=)	SNV Germline	ChrX:154357522	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560454	rs_368536975	3 SubmittersRCV000733935 RCV001396578 RCV004027076
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)	SNV Germline	ChrX:154359777	Conflicting classifications of pathogenicity	6 conditions Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10560635	rs_781928289	5 SubmittersRCV000754796 RCV001219151 RCV002370002 RCV003987692 RCV004588162
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)	SNV Germline	ChrX:154352921	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560131	rs_781860863	4 SubmittersRCV000756177 RCV001324932 RCV006386968 RCV005418328
NM_001110556.2(FLNA):c.3515G>A (p.Arg1172Gln)	SNV Germline	ChrX:154360280	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560697	rs_782694926	3 SubmittersRCV000756181 RCV005225114 RCV006725977
NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp)	SNV Germline	ChrX:154365454	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561166	rs_782434042	4 SubmittersRCV000756179 RCV001855871 RCV006663260
NM_001110556.2(FLNA):c.2260A>G (p.Ile754Val)	SNV Germline	ChrX:154364042	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA415237656	rs_1569551769	3 SubmittersRCV000762688 RCV002442571 RCV006556629
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter)	SNV Germline	ChrX:154366417	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA415246576	rs_782121971	2 SubmittersRCV000851369
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)	SNV Germline	ChrX:154358294	Pathogenic/Likely pathogenic	Cardiac valvular dysplasia, X-linked Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA415214889	rs_1603360542	6 SubmittersRCV000787478 RCV001269936 RCV004822196 RCV006556678
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro)	SNV Germline	ChrX:154371226	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561475	rs_781814342	3 SubmittersRCV001219313 RCV001577378 RCV004527818
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)	SNV Germline	ChrX:154349820	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA415182885	rs_1557175387	2 SubmittersRCV002235900 RCV002285414
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)	SNV Germline	ChrX:154350190	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559939	rs_782645927	3 SubmittersRCV000804857 RCV001759539 RCV005562470
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)	SNV Germline	ChrX:154352574	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560082	rs_782477734	3 SubmittersRCV000814405 RCV001811501 RCV002363115
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)	SNV Germline	ChrX:154353443	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Thyroid cancer, nonmedullary, 1 Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10560207	rs_10458342	3 SubmittersRCV002352379 RCV003768508 RCV005902007 RCV005902006
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)	SNV Germline	ChrX:154355033	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA415208427	rs_1381802174	2 SubmittersRCV002235442 RCV003442116
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)	SNV Germline	ChrX:154357476	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415213496	rs_1400230946	2 SubmittersRCV002233869 RCV004822202
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)	SNV Germline	ChrX:154357545	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415214088	rs_782082407	2 SubmittersRCV002234249 RCV006725992
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)	SNV Germline	ChrX:154357607	Conflicting classifications of pathogenicity	Sudden unexplained death in childhood Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560464	rs_372729831	4 SubmittersRCV001788358 RCV001550579 RCV002235050 RCV005841643
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)	SNV Germline	ChrX:154359115	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA415217120	rs_201886752	2 SubmittersRCV002235904 RCV002508261
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)	SNV Germline	ChrX:154359556	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10560603	rs_782490288	5 SubmittersRCV002234231 RCV004692257 RCV006663311 RCV005901959
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)	SNV Germline	ChrX:154361408	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560775	rs_782758177	3 SubmittersRCV000804267 RCV001592997 RCV006666299
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)	SNV Germline	ChrX:154362284	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10560879	rs_185503240	3 SubmittersRCV000821182 RCV002427058 RCV006279246
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)	SNV Germline	ChrX:154364551	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10561035	rs_374295965	4 SubmittersRCV002235075 RCV002422830 RCV005240609 RCV006279233
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)	SNV Germline	ChrX:154365388	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10561158	rs_782698277	2 SubmittersRCV001766707 RCV002234870
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)	SNV Germline	ChrX:154365462	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561168	rs_782262202	3 SubmittersRCV000805539 RCV002388515 RCV004538103
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)	SNV Germline	ChrX:154371217	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10561472	rs_781988041	2 SubmittersRCV002274101 RCV002234288
NM_001110556.2(FLNA):c.4142+1G>A	SNV Germline	ChrX:154359483	Likely pathogenic	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415219190	rs_1603360906	1 SubmittersRCV002235125
NM_001110556.2(FLNA):c.4474+4A>G	SNV Germline	ChrX:154358980	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA915952161	rs_1603360728	2 SubmittersRCV000840662 RCV005225165
NM_001110556.2(FLNA):c.2023-5G>A	SNV Germline	ChrX:154364377	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561022	rs_782694533	3 SubmittersRCV000861508 RCV002415979 RCV004538179
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile)	SNV Germline	ChrX:154349554	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559866	rs_187774579	5 SubmittersRCV001403633 RCV003884760 RCV005240655 RCV005831694
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe)	SNV Germline	ChrX:154352913	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560129	rs_782157246	3 SubmittersRCV000864751 RCV001664498 RCV002352524
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)	SNV Germline	ChrX:154357480	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560447	rs_781846478	4 SubmittersRCV000865300 RCV001533923 RCV001816970 RCV003169117
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile)	SNV Germline	ChrX:154360100	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10560671	rs_782495669	5 SubmittersRCV000865430 RCV001539581 RCV003396504
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)	SNV Germline	ChrX:154349560	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10559869	rs_782244918	2 SubmittersRCV000871844 RCV001766780
NM_001110556.2(FLNA):c.1045G>A (p.Glu349Lys)	SNV Germline	ChrX:154366582	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10561291	rs_370490152	3 SubmittersRCV002066179 RCV002400070 RCV003332272
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys)	SNV Germline	ChrX:154352349	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560062	rs_782621818	3 SubmittersRCV000996061 RCV001858827 RCV002363519
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)	SNV Germline	ChrX:154353316	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415197078	rs_1483960506	5 SubmittersRCV000996065 RCV001205098 RCV002354903
NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter)	SNV Germline	ChrX:154351583	Pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA415185460	rs_1603358919	1 SubmittersRCV000995766
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)	SNV Germline	ChrX:154358540	Conflicting classifications of pathogenicity	not specified Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA519707301	rs_1324926264	4 SubmittersRCV001000791 RCV001836929 RCV002068759 RCV004822283
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)	SNV Germline	ChrX:154349559	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection Thrombocytopenia	Criteria Provided Conflicting Classifications	CA10559868	rs_781959191	3 SubmittersRCV001061077 RCV003160489 RCV003447576
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)	SNV Germline	ChrX:154349733	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559887	rs_782563616	3 SubmittersRCV001065270 RCV001759832 RCV006666718
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)	SNV Germline	ChrX:154353654	Pathogenic	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415199593	rs_1359141531	1 SubmittersRCV001061715
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)	SNV Germline	ChrX:154354479	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337276309	rs_377576796	4 SubmittersRCV001037769 RCV001585937 RCV004536069 RCV005338509
NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)	SNV Germline	ChrX:154362248	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415233338	rs_201523624	3 SubmittersRCV001036049 RCV004590034 RCV004822286
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)	SNV Germline	ChrX:154365194	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome 9 conditions	Criteria Provided Conflicting Classifications	CA415243143	rs_1443563081	2 SubmittersRCV001050757 RCV005047247
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)	SNV Germline	ChrX:154366077	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561198	rs_375463904	5 SubmittersRCV001039819 RCV001564098 RCV002379498
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)	SNV Germline	ChrX:154366377	Pathogenic	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415244422	rs_2067760741	1 SubmittersRCV001071657
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)	SNV Germline	ChrX:154366593	Pathogenic	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415247113	rs_2067763458	1 SubmittersRCV001058596
NM_001110556.2(FLNA):c.2827-2A>C	SNV Germline	ChrX:154361789	Likely pathogenic	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415232055	rs_2067713488	1 SubmittersRCV001065114
NM_001110556.2(FLNA):c.1065+1G>T	SNV Germline	ChrX:154366561	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Single Submitter	CA415246936	rs_2067762985	1 SubmittersRCV001043643
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)	SNV Germline	ChrX:154360104	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415223286	rs_1191721014	3 SubmittersRCV001197889 RCV001241517 RCV006655786
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)	SNV Germline	ChrX:154362516	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415236565	rs_1557178278	2 SubmittersRCV001195903 RCV003770199
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)	SNV Unknown	ChrX:154364624	Pathogenic/Likely pathogenic	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, X-linked dominant	Criteria Provided Multiple Submitters No Conflicts	CA415241613	rs_782178831	2 SubmittersRCV001197823 RCV001332002
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)	SNV Germline	ChrX:154364638	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561050	rs_267606815	2 SubmittersRCV001198242 RCV006557192
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)	SNV Germline	ChrX:154358448	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10560504	rs_782460301	3 SubmittersRCV001219915 RCV001813815 RCV004768928
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)	SNV Germline	ChrX:154367459	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561356	rs_782157170	4 SubmittersRCV001221637 RCV001732079 RCV003490132 RCV006372268
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)	SNV Germline	ChrX:154360053	Pathogenic	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415222811	rs_2067693064	1 SubmittersRCV001211252
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)	SNV Germline	ChrX:154361534	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II 9 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA10560790	rs_3819330	3 SubmittersRCV001208356 RCV002484125 RCV006279431
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)	SNV Germline	ChrX:154348931	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559815	rs_782302420	2 SubmittersRCV001238709 RCV006726176
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)	SNV Germline	ChrX:154349840	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10559900	rs_781788290	4 SubmittersRCV001225484 RCV004032537 RCV004782675 RCV006279460
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)	SNV Germline	ChrX:154353442	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA415198343	rs_1198953814	3 SubmittersRCV001229938 RCV003145437
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)	SNV Germline	ChrX:154357555	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA415214128	rs_781789823	1 SubmittersRCV001232709
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)	SNV Germline	ChrX:154352646	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560093	rs_782142395	4 SubmittersRCV001243216 RCV003442806 RCV005562643
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)	SNV Germline	ChrX:154358243	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560486	rs_190415098	4 SubmittersRCV001247915 RCV001566470 RCV004528438 RCV004822339
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)	SNV Germline	ChrX:154366449	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA415246765	rs_2067761804	1 SubmittersRCV001241863
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser)	SNV Germline	ChrX:154354232	Conflicting classifications of pathogenicity	Intellectual disability Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560306	rs_782269425	4 SubmittersRCV001260709 RCV001558240 RCV003770351 RCV006656044
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser)	SNV Germline	ChrX:154353353	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415197441	rs_1557176194	3 SubmittersRCV001374498 RCV003770356 RCV006656045
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr)	SNV Germline	ChrX:154361492	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA415230823	rs_1557178033	3 SubmittersRCV001262956 RCV001751529 RCV003770368
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)	SNV Germline	ChrX:154354175	Conflicting classifications of pathogenicity	Inborn genetic diseases Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10560294	rs_782307604	2 SubmittersRCV001266376 RCV003770388
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys)	SNV Germline	ChrX:154351604	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10559975	rs_782689584	2 SubmittersRCV001810698 RCV002541802
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)	SNV Germline	ChrX:154353452	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA337275561	rs_930325486	3 SubmittersRCV001300840 RCV002511074 RCV006269371
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys)	SNV Germline	ChrX:154354171	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10560292	rs_782771039	2 SubmittersRCV001299610 RCV004789519
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met)	SNV Germline	ChrX:154354988	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10560400	rs_781783107	2 SubmittersRCV001307499 RCV002543197
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val)	SNV Germline	ChrX:154361522	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560788	rs_782099443	3 SubmittersRCV001304176 RCV005562668 RCV006689045
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)	SNV Germline	ChrX:154362673	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided 9 conditions	Criteria Provided Conflicting Classifications	CA10560947	rs_782454177	3 SubmittersRCV001309829 RCV002282513 RCV002476433
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu)	SNV Germline	ChrX:154364083	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10560989	rs_782278974	2 SubmittersRCV001309625 RCV004590315
NM_001110556.2(FLNA):c.1692-3C>T	SNV Germline	ChrX:154364960	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10561097	rs_781904011	3 SubmittersRCV001302080 RCV005841760 RCV005910974
NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly)	SNV Germline	ChrX:154371227	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415255893	rs_941318584	2 SubmittersRCV001300917 RCV004036185
NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp)	SNV Germline	ChrX:154350181	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559938	rs_368038166	4 SubmittersRCV001313086 RCV001773623 RCV005330679
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)	SNV Germline	ChrX:154351613	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559978	rs_371689052	3 SubmittersRCV001314256 RCV001773626 RCV005831846
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His)	SNV Germline	ChrX:154359550	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA415219868	rs_1557177520	2 SubmittersRCV001320426 RCV001570613
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)	SNV Germline	ChrX:154366104	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415243767	rs_1360400826	3 SubmittersRCV001331936 RCV002546520 RCV004822360
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)	SNV Germline	ChrX:154359825	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415222104	rs_781816229	3 SubmittersRCV001336375 RCV001871884 RCV002368114
NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His)	SNV Germline	ChrX:154349750	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559889	rs_782338659	4 SubmittersRCV001345760 RCV003120574 RCV005841785
NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu)	SNV Germline	ChrX:154354896	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415207591	rs_1557176613	4 SubmittersRCV001347480 RCV001587367 RCV004528475 RCV004822367
NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=)	SNV Germline	ChrX:154359397	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA519707529	rs_2067687057	3 SubmittersRCV001342636 RCV001673047 RCV003294352
NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser)	SNV Germline	ChrX:154359855	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA415222232	rs_2067691272	2 SubmittersRCV001349266 RCV004727176
NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)	SNV Germline	ChrX:154360152	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10560679	rs_782482207	5 SubmittersRCV001350272 RCV002350656 RCV006266718 RCV006702558
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)	SNV Germline	ChrX:154362070	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10560855	rs_782140888	2 SubmittersRCV001349995 RCV003145603
NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp)	SNV Germline	ChrX:154364338	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415238867	rs_1360829798	3 SubmittersRCV001347901 RCV001536582 RCV002419026
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)	SNV Germline	ChrX:154366567	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection 9 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA415246974	rs_1489530369	4 SubmittersRCV001345513 RCV002412086 RCV002493774 RCV003159203
NM_001110556.2(FLNA):c.7108A>G (p.Ser2370Gly)	SNV Germline	ChrX:154350957	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA415184975	rs_1557175616	2 SubmittersRCV001359068 RCV006279629
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)	SNV Germline	ChrX:154354216	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10560299	rs_781882457	3 SubmittersRCV001369194 RCV002350709 RCV004720876
NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro)	SNV Germline	ChrX:154362269	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA415233448	rs_377046577	3 SubmittersRCV001369416 RCV002438861 RCV004794534
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)	SNV Germline	ChrX:154362308	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II 9 conditions FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415233586	rs_1557178198	4 SubmittersRCV001372973 RCV002493899 RCV004734155 RCV004822379
NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln)	SNV Germline	ChrX:154365206	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561132	rs_743546	2 SubmittersRCV001369712 RCV005562729
NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)	SNV Germline	ChrX:154365361	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA337283284	rs_938952718	2 SubmittersRCV001358811 RCV003738053
NM_001110556.2(FLNA):c.1066-1G>A	SNV Germline	ChrX:154366471	Pathogenic/Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415246879	rs_2148118126	2 SubmittersRCV001378079 RCV001780283
NM_001110556.2(FLNA):c.622+1G>A	SNV Germline	ChrX:154367841	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415248963	rs_2148119316	1 SubmittersRCV001379671
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)	SNV Germline	ChrX:154361550	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA415231127	rs_1557178045	1 SubmittersRCV001389179
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)	SNV Germline	ChrX:154367887	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA415249180	rs_2148119354	1 SubmittersRCV001384742
NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met)	SNV Germline	ChrX:154353385	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415197746	rs_1603359437	2 SubmittersRCV001419325 RCV003160679
NM_000552.5(VWF):c.2981G>T (p.Gly994Val)	SNV Germline	Chr12:6026033	Conflicting classifications of pathogenicity	von Willebrand disease type 1 Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA383515381	rs_1591867991	1 SubmittersRCV001420364 RCV004813172
NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly)	SNV Germline	ChrX:154366412	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10561252	rs_782331362	5 SubmittersRCV001439853 RCV003145663 RCV005340926 RCV005408903
NM_001110556.2(FLNA):c.3957G>A (p.Val1319=)	SNV Germline	ChrX:154359754	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA519707791	rs_2148111675	2 SubmittersRCV001471563 RCV003227035
NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys)	SNV Germline	ChrX:154365140	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561119	rs_782477178	2 SubmittersRCV001496238 RCV002405170
NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met)	SNV Germline	ChrX:154353650	Conflicting classifications of pathogenicity	Condition: not provided FG syndrome 2 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560232	rs_371366175	7 SubmittersRCV001508978 RCV001843589 RCV001882561 RCV002469399 RCV005341015
NM_001110556.2(FLNA):c.1114G>T (p.Val372Leu)	SNV Germline	ChrX:154366422	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II not specified	Criteria Provided Conflicting Classifications	CA10561256	rs_781848457	4 SubmittersRCV001509133 RCV003771556 RCV005432737
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)	SNV Germline	ChrX:154361561	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10560792	rs_782804253	2 SubmittersRCV001513731 RCV002261371
NM_001110556.2(FLNA):c.1836G>A (p.Ser612=)	SNV Germline	ChrX:154364712	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA519709188	rs_1461515007	4 SubmittersRCV001548289 RCV002072018
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)	SNV Germline	ChrX:154353299	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560187	rs_200956777	3 SubmittersRCV001557645 RCV002032624 RCV002359171
NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser)	SNV Germline	ChrX:154355061	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415208574	rs_1402204338	4 SubmittersRCV001557382 RCV002568370 RCV005341023
NM_001110556.2(FLNA):c.5753G>A (p.Gly1918Glu)	SNV Germline	ChrX:154353661	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560233	rs_373862172	3 SubmittersRCV001561755 RCV002343738 RCV003771717
NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln)	SNV Germline	ChrX:154367877	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications	CA415249122	rs_1569551872	3 SubmittersRCV001560948 RCV001859392 RCV004528516
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)	SNV Germline	ChrX:154362462	Conflicting classifications of pathogenicity	Condition: not provided not specified Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10560906	rs_782772998	4 SubmittersRCV001572051 RCV003323905 RCV002569056 RCV004734238
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg)	SNV Germline	ChrX:154366746	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561318	rs_782724892	2 SubmittersRCV001568864 RCV001866012
NM_001110556.2(FLNA):c.1854G>C (p.Gln618His)	SNV Germline	ChrX:154364694	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561061	rs_782495413	2 SubmittersRCV001583509 RCV002570830
NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His)	SNV Germline	ChrX:154354648	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415206399	rs_1293701269	3 SubmittersRCV001589592 RCV001866123 RCV006663336
NM_001110556.2(FLNA):c.2822A>G (p.Gln941Arg)	SNV Germline	ChrX:154361983	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415232217	rs_2148113975	2 SubmittersRCV001583534 RCV005213545
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)	SNV Germline	ChrX:154354261	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II not specified	Criteria Provided Conflicting Classifications	CA337276205	rs_12395634	3 SubmittersRCV001592602 RCV001866236 RCV003331190
NM_001110556.2(FLNA):c.374-3C>T	SNV Germline	ChrX:154368093	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Clear cell carcinoma of kidney not specified	Criteria Provided Conflicting Classifications	CA10561415	rs_781994403	4 SubmittersRCV001666713 RCV002538585 RCV005921496 RCV006650926
NM_001110556.2(FLNA):c.3350A>G (p.Asn1117Ser)	SNV Germline	ChrX:154360445	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415228353	rs_1209865046	3 SubmittersRCV001725844 RCV004040008 RCV005213560
NM_001110556.2(FLNA):c.1346C>A (p.Thr449Asn)	SNV Germline	ChrX:154366107	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415243773	rs_1304244536	3 SubmittersRCV001754140 RCV002538728
NM_001110556.2(FLNA):c.1260C>G (p.Ile420Met)	SNV Germline	ChrX:154366193	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415243960	rs_1351119633	2 SubmittersRCV001756328 RCV006557630
NM_001110556.2(FLNA):c.1885G>A (p.Gly629Ser)	SNV Germline	ChrX:154364663	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415241830	rs_1431672096	3 SubmittersRCV001756505 RCV003771911 RCV006392060
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn)	SNV Germline	ChrX:154364675	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415241903	rs_1557178769	2 SubmittersRCV001757835 RCV002543941
NM_001110556.2(FLNA):c.1829-8G>A	SNV Germline	ChrX:154364727	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10561065	rs_782287295	2 SubmittersRCV001763021 RCV003771920
NM_001110556.2(FLNA):c.2726T>C (p.Val909Ala)	SNV Germline	ChrX:154362079	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415232905	rs_1557178152	2 SubmittersRCV001763522 RCV003771978
NM_001110556.2(FLNA):c.4390C>T (p.Arg1464Cys)	SNV Germline	ChrX:154359068	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415216800	rs_1557177400	2 SubmittersRCV001770769 RCV001861101
NM_001110556.2(FLNA):c.5461A>G (p.Thr1821Ala)	SNV Germline	ChrX:154354247	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10560308	rs_782241871	2 SubmittersRCV001763264 RCV005225473
NM_001110556.2(FLNA):c.3484A>C (p.Lys1162Gln)	SNV Germline	ChrX:154360311	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10560700	rs_782793542	2 SubmittersRCV001772715 RCV005225470
NM_001110556.2(FLNA):c.4754C>T (p.Thr1585Met)	SNV Germline	ChrX:154358200	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415214491	rs_2067677205	3 SubmittersRCV001768742 RCV002032833
NM_001110556.2(FLNA):c.7150G>A (p.Asp2384Asn)	SNV Germline	ChrX:154350915	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Congenital heart disease	Criteria Provided Conflicting Classifications	CA10559952	rs_782754461	3 SubmittersRCV001760652 RCV002540309 RCV005626477
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser)	SNV Germline	ChrX:154354630	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415206193	rs_1557176498	2 SubmittersRCV001756927 RCV003771996
NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn)	SNV Germline	ChrX:154352865	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA10560125	rs_781962577	4 SubmittersRCV001752495 RCV003772012 RCV005564903 RCV006453743
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile)	SNV Germline	ChrX:154366165	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA415243901	rs_1557179208	2 SubmittersRCV001758357 RCV001868468
NM_001110556.2(FLNA):c.7379G>A (p.Gly2460Asp)	SNV Germline	ChrX:154349822	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415182895	rs_1557175388	4 SubmittersRCV001763687 RCV002540464 RCV004734262 RCV006392075
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)	SNV Germline	ChrX:154353448	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10560208	rs_781962741	2 SubmittersRCV001774295 RCV002540470
NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys)	SNV Germline	ChrX:154364594	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10561043	rs_782043699	5 SubmittersRCV001773174 RCV002544150
NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile)	SNV Germline	ChrX:154366588	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10561293	rs_782234539	2 SubmittersRCV002246086 RCV003772164
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)	SNV Germline	ChrX:154360335	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA415227335	rs_1557177750	2 SubmittersRCV001811778 RCV002541359
NM_001110556.2(FLNA):c.238C>G (p.Leu80Val)	SNV Germline	ChrX:154371008	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA415254838	rs_2148121932	1 SubmittersRCV001806363
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe)	SNV Germline	ChrX:154368046	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA415250818	rs_2148119483	2 SubmittersRCV001808991 RCV002542437
NM_001110556.2(FLNA):c.1765G>A (p.Gly589Ser)	SNV Germline	ChrX:154364884	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10561085	rs_782371876	4 SubmittersRCV001820354 RCV001869716 RCV002397761 RCV006252792
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)	SNV Germline	ChrX:154351014	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA415185240	rs_1557175653	2 SubmittersRCV001817644 RCV002542698
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)	SNV Germline	ChrX:154359026	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia FLNA-related disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337279283	rs_781855364	4 SubmittersRCV001870460 RCV004536377 RCV004793540 RCV005831988
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)	SNV Germline	ChrX:154364318	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561015	rs_782158357	2 SubmittersRCV002038742 RCV004044807
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser)	SNV Germline	ChrX:154364291	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561010	rs_781988346	2 SubmittersRCV001906214 RCV002422996
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)	SNV Germline	ChrX:154352833	Pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415193623	rs_2148104651	1 SubmittersRCV001892782
NM_001110556.2(FLNA):c.4834G>A (p.Val1612Met)	SNV Germline	ChrX:154357545	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560457	rs_782082407	2 SubmittersRCV001864658 RCV003382671
NM_001110556.2(FLNA):c.2221G>A (p.Val741Met)	SNV Germline	ChrX:154364081	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560987	rs_782439081	2 SubmittersRCV001953320 RCV005565046
NM_001110556.2(FLNA):c.2783A>G (p.His928Arg)	SNV Germline	ChrX:154362022	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415232570	rs_1209463656	2 SubmittersRCV001899887 RCV006727391
NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)	SNV Germline	ChrX:154350109	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559931	rs_782308324	2 SubmittersRCV001882924 RCV002370416
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)	SNV Germline	ChrX:154351893	Pathogenic	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415186126	rs_2148103458	1 SubmittersRCV001950812
NM_001110556.2(FLNA):c.7023+1G>T	SNV Germline	ChrX:154351580	Likely pathogenic	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA415185444	rs_2148102980	1 SubmittersRCV002010697
NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe)	SNV Germline	ChrX:154371229	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10561477	rs_782780394	2 SubmittersRCV001931371 RCV005232724
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)	SNV Germline	ChrX:154364641	Pathogenic	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415241718	rs_2148116288	1 SubmittersRCV001972631
NM_001110556.2(FLNA):c.1963C>T (p.Arg655Cys)	SNV Germline	ChrX:154364585	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10561042	rs_376867823	3 SubmittersRCV001943702 RCV003167237
NM_001110556.2(FLNA):c.621G>A (p.Pro207=)	SNV Germline	ChrX:154367843	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561401	rs_200632859	2 SubmittersRCV002022771 RCV005565112
NM_001110556.2(FLNA):c.5156A>G (p.Lys1719Arg)	SNV Germline	ChrX:154354886	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560380	rs_782502175	3 SubmittersRCV001943618 RCV004785383 RCV006663759
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)	SNV Germline	ChrX:154360544	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II not specified	Criteria Provided Conflicting Classifications	CA415229215	rs_1557177797	3 SubmittersRCV002324258 RCV001947187 RCV006453776
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)	SNV Germline	ChrX:154358329	Conflicting classifications of pathogenicity	9 conditions Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia not specified	Criteria Provided Conflicting Classifications	CA10560493	rs_782281134	3 SubmittersRCV002498009 RCV002042590 RCV003120800
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu)	SNV Germline	ChrX:154371175	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA415255698	rs_1350949025	4 SubmittersRCV001944429 RCV004042092 RCV005405779 RCV006434491
NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys)	SNV Germline	ChrX:154359575	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10560606	rs_782269355	3 SubmittersRCV002004218 RCV006280896
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)	SNV Germline	ChrX:154365143	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10561121	rs_781806203	3 SubmittersRCV001933703 RCV002397930 RCV004793616
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser)	SNV Germline	ChrX:154350040	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant See cases Condition: not provided	Criteria Provided Conflicting Classifications	CA10559924	rs_782189345	3 SubmittersRCV001895675 RCV002252716 RCV004809688
NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val)	SNV Germline	ChrX:154360040	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Frontometaphyseal dysplasia 1	Criteria Provided Conflicting Classifications	CA10560666	rs_782538253	2 SubmittersRCV001986854 RCV004796701
NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly)	SNV Germline	ChrX:154366356	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10561243	rs_371936356	2 SubmittersRCV001967180 RCV004762259
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	SNV Germline	ChrX:154348959	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Cardiac valvular dysplasia, X-linked FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10559820	rs_781864075	3 SubmittersRCV002031730 RCV002266096 RCV004538751
NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile)	SNV Germline	ChrX:154364330	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA10561018	rs_782116160	3 SubmittersRCV002045835 RCV006727546 RCV005642687
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp)	SNV Germline	ChrX:154359557	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560604	rs_373073505	4 SubmittersRCV001889918 RCV003226500 RCV004779166 RCV006392153
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)	SNV Germline	ChrX:154360553	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560741	rs_782561908	2 SubmittersRCV002019406 RCV002324466
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)	SNV Germline	ChrX:154364890	Pathogenic	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA415242540	rs_1447594194	1 SubmittersRCV001950162
NM_001110556.2(FLNA):c.4506C>G (p.Asn1502Lys)	SNV Germline	ChrX:154358537	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415215823	rs_200857989	2 SubmittersRCV001885997 RCV004041075
NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp)	SNV Germline	ChrX:154354672	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560347	rs_782147650	2 SubmittersRCV002018609 RCV002346299
NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu)	SNV Germline	ChrX:154361342	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA10560762	rs_782614645	2 SubmittersRCV001946325 RCV006280830
NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp)	SNV Germline	ChrX:154350042	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415183663	rs_1281469151	3 SubmittersRCV001962353 RCV005416589 RCV006727464
NM_001110556.2(FLNA):c.2570C>T (p.Thr857Met)	SNV Germline	ChrX:154362328	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415235462	rs_1488268931	2 SubmittersRCV002023815 RCV005343273
NM_001110556.2(FLNA):c.7333+1G>C	SNV Germline	ChrX:154350030	Likely pathogenic	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter	CA415183223	rs_1557175424	1 SubmittersRCV002045185
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)	SNV Germline	ChrX:154362143	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10560858	rs_782580568	3 SubmittersRCV001886189 RCV004041178 RCV004728889
NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)	SNV Germline	ChrX:154351689	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Thrombocytopenia Condition: not provided	Criteria Provided Conflicting Classifications	CA10559988	rs_781910090	3 SubmittersRCV002109062 RCV003313794 RCV003738149
NM_001110556.2(FLNA):c.2405-5C>T	SNV Germline	ChrX:154362583	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560930	rs_781892155	3 SubmittersRCV002213977 RCV003146520 RCV002454583
NM_001110556.2(FLNA):c.1111G>A (p.Glu371Lys)	SNV Germline	ChrX:154366425	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA415246627	rs_1557179279	2 SubmittersRCV002244569 RCV003093953
NM_001110556.2(FLNA):c.2137-1G>A	SNV Germline	ChrX:154364166	Likely pathogenic	Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA415238277	rs_2148115834	1 SubmittersRCV002251116
NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp)	SNV Germline	ChrX:154364116	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560992	rs_782330533	2 SubmittersRCV002261667 RCV003095887
NM_001110556.2(FLNA):c.5849C>T (p.Ala1950Val)	SNV Germline	ChrX:154353565	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415198792	rs_2067639202	4 SubmittersRCV002281300 RCV003101609 RCV004047558
NM_001110556.2(FLNA):c.6298G>A (p.Gly2100Arg)	SNV Germline	ChrX:154352853	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560121	rs_781785034	3 SubmittersRCV002308789 RCV006558913 RCV006396978
NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr)	SNV Germline	ChrX:154359402	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10560581	rs_781821894	2 SubmittersRCV002333188 RCV003094547
NM_001110556.2(FLNA):c.4525G>T (p.Val1509Phe)	SNV Germline	ChrX:154358518	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10560513	rs_782018054	2 SubmittersRCV002340018 RCV005213678
NM_001110556.2(FLNA):c.2171A>G (p.Lys724Arg)	SNV Germline	ChrX:154364131	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10560995	rs_782024317	2 SubmittersRCV002432741 RCV003098686
NM_001110556.2(FLNA):c.2800A>G (p.Thr934Ala)	SNV Germline	ChrX:154362005	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415232396	rs_1557178130	2 SubmittersRCV002464944 RCV002571379
NM_001110556.2(FLNA):c.1384G>A (p.Gly462Ser)	SNV Germline	ChrX:154366069	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10561195	rs_782063907	2 SubmittersRCV002474246 RCV006559480
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)	SNV Germline	ChrX:154366417	Pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415246578	rs_782121971	2 SubmittersRCV002571581 RCV002510211
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)	SNV Germline	ChrX:154364929	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561091	rs_782782483	2 SubmittersRCV003065084 RCV004070368
NM_001110556.2(FLNA):c.1764C>T (p.Gly588=)	SNV Germline	ChrX:154364885	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561086	rs_781963604	2 SubmittersRCV003085646 RCV006660430
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)	SNV Germline	ChrX:154365226	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Condition: not provided Nonpapillary renal cell carcinoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10561140	rs_781850599	3 SubmittersRCV003077672 RCV003108147 RCV005930414 RCV005930415
NM_001110556.2(FLNA):c.1411A>G (p.Thr471Ala)	SNV Germline	ChrX:154366042	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant not specified	Criteria Provided Conflicting Classifications	CA10561188	rs_782588986	2 SubmittersRCV003075779 RCV005433315
NM_001110556.2(FLNA):c.1978A>G (p.Met660Val)	SNV Germline	ChrX:154364570	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561039	rs_782510387	2 SubmittersRCV003092913 RCV006728847
NM_001110556.2(FLNA):c.4455C>T (p.Val1485=)	SNV Germline	ChrX:154359003	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA519276758	rs_2067683151	2 SubmittersRCV002615928 RCV003143513
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)	SNV Germline	ChrX:154366207	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561218	rs_782788214	2 SubmittersRCV002591828 RCV004068871
NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)	SNV Germline	ChrX:154351919	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10560019	rs_782504409	2 SubmittersRCV002625122 RCV003143526
NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)	SNV Germline	ChrX:154353193	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415196666	rs_1226982948	2 SubmittersRCV003112366 RCV005335731
NM_001110556.2(FLNA):c.4112A>C (p.Asn1371Thr)	SNV Germline	ChrX:154359514	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder not specified	Criteria Provided Conflicting Classifications	CA10560597	rs_782079908	3 SubmittersRCV002587336 RCV004529154 RCV005239458
NM_001110556.2(FLNA):c.5854G>A (p.Val1952Ile)	SNV Germline	ChrX:154353560	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415198772	rs_1557176236	2 SubmittersRCV002593553 RCV006727692
NM_001110556.2(FLNA):c.388G>A (p.Val130Met)	SNV Germline	ChrX:154368076	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10561413	rs_782151307	3 SubmittersRCV002685459 RCV003443067 RCV006559526
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)	SNV Germline	ChrX:154362313	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10560882	rs_782396558	2 SubmittersRCV002671470 RCV003128870
NM_001110556.2(FLNA):c.868+1G>A	SNV Germline	ChrX:154367396	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided Heterotopia, periventricular, X-linked dominant	Criteria Provided Multiple Submitters No Conflicts	CA415248251	rs_2522763814	3 SubmittersRCV002745608 RCV003146613 RCV005433256
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)	SNV Germline	ChrX:154359746	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10560631	rs_782382389	2 SubmittersRCV002814367 RCV003777005
NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)	SNV Germline	ChrX:154359017	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560532	rs_782170730	2 SubmittersRCV002895273 RCV006728730
NM_001110556.2(FLNA):c.4598+1G>A	SNV Germline	ChrX:154358444	Pathogenic/Likely pathogenic	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA415215192	rs_2522735557	2 SubmittersRCV002889880 RCV006605386
NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)	SNV Germline	ChrX:154366138	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337283519	rs_963606772	2 SubmittersRCV002975921 RCV006660234
NM_001110556.2(FLNA):c.2233G>A (p.Ala745Thr)	SNV Germline	ChrX:154364069	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415237741	rs_1336740117	2 SubmittersRCV002943483 RCV006728753
NM_001110556.2(FLNA):c.2405-1G>C	SNV Germline	ChrX:154362579	Likely pathogenic	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant	Criteria Provided Single Submitter	CA415237051	rs_2522749173	1 SubmittersRCV002962362

NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)

SNV
Germline

ChrX:154367920

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA256051

rs_137853310

2 SubmittersRCV000012513

NM_001110556.2(FLNA):c.720+2T>C

SNV
Germline

ChrX:154367639

Pathogenic

Heterotopia, periventricular, X-linked dominant
Thyroid cancer, nonmedullary, 1

No Assertion Criteria Provided

CA278875

rs_863223295

2 SubmittersRCV000012514 RCV005887455

NM_001110556.2(FLNA):c.373+1G>A

SNV
Germline

ChrX:154370872

Pathogenic

Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA278876

rs_863223296

1 SubmittersRCV000012516

NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)

SNV
Germline

ChrX:154364582

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Condition: not provided
Neurodevelopmental delay
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA256053

rs_137853311

5 SubmittersRCV000012518 RCV001753412 RCV002273924 RCV001857335

NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter)

SNV
Germline

ChrX:154351689

Pathogenic

Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA256054

rs_781910090

1 SubmittersRCV000012519

NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)

SNV
Germline

ChrX:154371001

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA256055

rs_28935169

2 SubmittersRCV000012520 RCV003764561

NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)

SNV
Germline

ChrX:154367844

Pathogenic/Likely pathogenic

Oto-palato-digital syndrome, type I
Cleft palate
Conductive hearing impairment
Short stature
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
FLNA-related disorder
Thyroid cancer, nonmedullary, 1
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA256056

rs_28935469

11 SubmittersRCV000012521 RCV000415125 RCV001000894 RCV002354156 RCV002509151 RCV003764562 RCV004545725 RCV005887457 RCV005887456

NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)

SNV
Germline

ChrX:154367505

Pathogenic/Likely pathogenic

Oto-palato-digital syndrome, type II
Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
X-linked otopalatodigital spectrum disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA221728

rs_28935470

6 SubmittersRCV000012522 RCV000178843 RCV001851804 RCV006646391

NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)

SNV
Germline

ChrX:154360233

Pathogenic/Likely pathogenic

Melnick-Needles syndrome
Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA341131

rs_28935472

7 SubmittersRCV000012524 RCV000523000 RCV006555319

NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)

SNV
Germline

ChrX:154360199

Pathogenic/Likely pathogenic

Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341132

rs_28935473

9 SubmittersRCV000012525 RCV001382364 RCV005411293 RCV005632174

NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)

SNV
Germline

ChrX:154360238

Pathogenic/Likely pathogenic

Frontometaphyseal dysplasia 1
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA256058

rs_137853312

7 SubmittersRCV000012527 RCV000414151 RCV002228026 RCV002051782

NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly)

SNV
Germline

ChrX:154371130

Pathogenic

Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA256059

rs_137853313

1 SubmittersRCV000012531

NM_001110556.2(FLNA):c.383C>T (p.Ala128Val)

SNV
Germline

ChrX:154368081

Pathogenic

Heterotopia, periventricular, X-linked dominant
Thyroid cancer, nonmedullary, 1

No Assertion Criteria Provided

CA256061

rs_137853315

2 SubmittersRCV000012533 RCV005887458

NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)

SNV
Germline

ChrX:154364625

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Cardiac valvular dysplasia, X-linked
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
FLNA-related periventricular nodular heterotopia
Condition: not provided
FLNA-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA256062

rs_80338841

10 SubmittersRCV000012536 RCV000020423 RCV001348560 RCV001563663 RCV001753413 RCV004734511 RCV005887459

NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)

SNV
Germline

ChrX:154367878

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA234009

rs_137853317

5 SubmittersRCV000012538 RCV000012539 RCV000153245 RCV000560177

NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)

SNV
Germline

ChrX:154354825

Pathogenic

Terminal osseous dysplasia-pigmentary defects syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Thyroid cancer, nonmedullary, 1
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA341134

rs_387907371

9 SubmittersRCV000012542 RCV001205323 RCV001292939 RCV001091828 RCV005887460 RCV006386747

NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)

SNV
Germline

ChrX:154367403

Pathogenic/Likely pathogenic

Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Fetal anomalies with a likely genetic cause

Criteria Provided
Multiple Submitters
No Conflicts

CA121667

rs_267606816

5 SubmittersRCV000012544 RCV004820820 RCV005222681 RCV006683848

NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter)

SNV
Germline

ChrX:154348897

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA259688

rs_398122812

2 SubmittersRCV000022819

NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)

SNV
Germline

ChrX:154371112

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Neurodevelopmental delay

Criteria Provided
Conflicting Classifications

CA221696

rs_398123613

2 SubmittersRCV000079686 RCV001527616 RCV002273955

NM_001110556.2(FLNA):c.1429+8C>T

SNV
Germline

ChrX:154366016

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA274722

rs_202181557

14 SubmittersRCV000079687 RCV000170402 RCV000231754 RCV001573339 RCV002390234

NM_001110556.2(FLNA):c.237G>C (p.Ala79=)

SNV
Germline

ChrX:154371009

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Connective tissue disorder
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA221699

rs_200626788

11 SubmittersRCV000079688 RCV000259078 RCV000659650 RCV001089423 RCV004019541

NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)

SNV
Germline

ChrX:154362044

Pathogenic/Likely pathogenic

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Ventral hernia
Patent ductus arteriosus
Abnormality of the face
Global developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA221702

rs_398123614

3 SubmittersRCV000175416 RCV001380531 RCV002226662

NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)

SNV
Germline

ChrX:154361368

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA221705

rs_398123615

4 SubmittersRCV000079691 RCV000640776 RCV000723682 RCV002321575

NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)

SNV
Germline

ChrX:154360472

Conflicting classifications of pathogenicity

Condition: not provided
9 conditions
not specified
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA221709

rs_371677498

7 SubmittersRCV000079693 RCV000764863 RCV001001353 RCV001854407 RCV005338079

NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)

SNV
Germline

ChrX:154360416

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA221712

rs_398123617

9 SubmittersRCV000196824 RCV000514621 RCV001089189 RCV002453400 RCV004542758

NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)

SNV
Germline

ChrX:154359286

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA221715

rs_398123618

6 SubmittersRCV000079696 RCV000680538 RCV002228211 RCV002326796 RCV005055567

NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)

SNV
Germline

ChrX:154358500

Pathogenic

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA221720

rs_186214592

4 SubmittersRCV000176728 RCV003764758 RCV005252739

NM_001110556.2(FLNA):c.6227-7C>T

SNV
Germline

ChrX:154352931

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA221726

rs_370491691

3 SubmittersRCV000079705 RCV001518324

NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=)

SNV
Germline

ChrX:154349447

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA221730

rs_398123624

2 SubmittersRCV000079712 RCV003764759

NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)

SNV
Germline

ChrX:154366214

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA231094

rs_200278701

10 SubmittersRCV000117041 RCV000259152 RCV001088786 RCV002313880

NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)

SNV
Germline

ChrX:154365248

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Connective tissue disorder
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA231097

rs_202029322

16 SubmittersRCV000117042 RCV000199806 RCV000659655 RCV001079137 RCV002313881 RCV004529961 RCV004584353

NM_001110556.2(FLNA):c.2023-8C>T

SNV
Germline

ChrX:154364380

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA231100

rs_587780335

5 SubmittersRCV000117043 RCV001087153

NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)

SNV
Germline

ChrX:154361470

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA231101

rs_370868704

9 SubmittersRCV000117044 RCV000225737 RCV001085193 RCV002444569 RCV004542839

NM_001110556.2(FLNA):c.1691+7C>A

SNV
Germline

ChrX:154365129

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Connective tissue disorder
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA231110

rs_199565118

10 SubmittersRCV000117048 RCV000225697 RCV000659656 RCV001080220

NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)

SNV
Germline

ChrX:154364124

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA231111

rs_371501734

8 SubmittersRCV000117050 RCV000371186 RCV001078644 RCV002426663

NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)

SNV
Germline

ChrX:154362080

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA231114

rs_199911951

8 SubmittersRCV000117053 RCV000200324 RCV001085804 RCV004019633 RCV004542840

NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)

SNV
Germline

ChrX:154350192

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA234011

rs_727503930

7 SubmittersRCV000234036 RCV000723787 RCV002312990

NM_001110556.2(FLNA):c.6291G>A (p.Leu2097=)

SNV
Germline

ChrX:154352860

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA234017

rs_782667495

2 SubmittersRCV000153251 RCV003764939

NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)

SNV
Germline

ChrX:154359370

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA234021

rs_182074603

5 SubmittersRCV000723943 RCV001078871 RCV002316967 RCV003330511

NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter)

SNV
Germline

ChrX:154352370

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA274747

rs_786205202

1 SubmittersRCV000170424

NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter)

SNV
Germline

ChrX:154357444

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA274741

rs_786205197

1 SubmittersRCV000170419

NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)

SNV
Germline

ChrX:154359007

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Dilatation of aorta
Connective tissue disorder
Condition: not provided
Thrombocytopenia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA274737

rs_200130356

19 SubmittersRCV000170415 RCV000193523 RCV000475968 RCV000582185 RCV000659667 RCV001579665 RCV003313943 RCV004020018

NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)

SNV
Germline

ChrX:154359566

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA274734

rs_377390031

5 SubmittersRCV000170413 RCV000640771 RCV001442515 RCV002321679

NM_001110556.2(FLNA):c.2565+1G>C

SNV
Germline

ChrX:154362417

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA274729

rs_786205186

1 SubmittersRCV000170407

NM_001110556.2(FLNA):c.2023-6C>T

SNV
Germline

ChrX:154364378

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274728

rs_372021340

3 SubmittersRCV000170406 RCV000553609 RCV001704233

NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu)

SNV
Germline

ChrX:154364698

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA274726

rs_782193139

3 SubmittersRCV000170405 RCV001657940 RCV002228616

NM_001110556.2(FLNA):c.1829-2A>G

SNV
Germline

ChrX:154364721

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA274725

rs_786205183

1 SubmittersRCV000170404

NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter)

SNV
Germline

ChrX:154364927

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274723

rs_786205182

2 SubmittersRCV000170403 RCV002221507

NM_001110556.2(FLNA):c.1430-1G>T

SNV
Germline

ChrX:154365487

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA274716

rs_786205177

1 SubmittersRCV000170397

NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter)

SNV
Germline

ChrX:154366582

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA274718

rs_370490152

1 SubmittersRCV000170399

NM_001110556.2(FLNA):c.987+1G>A

SNV
Germline

ChrX:154366731

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
FLNA-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274750

rs_786205204

3 SubmittersRCV000170426 RCV004545753 RCV005889657

NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)

SNV
Germline

ChrX:154364837

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA239820

rs_370735674

7 SubmittersRCV000225700 RCV000724189 RCV001510326 RCV004020066

NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)

SNV
Germline

ChrX:154364673

Conflicting classifications of pathogenicity

not specified
Connective tissue disorder
Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA211149

rs_200660642

13 SubmittersRCV000192550 RCV000659658 RCV000724601 RCV001080648 RCV004020068

NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)

SNV
Germline

ChrX:154362534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
FLNA-related disorder
Connective tissue disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Disorder of sexual differentiation
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA240862

rs_200053635

16 SubmittersRCV000198787 RCV000416150 RCV000509326 RCV000680542 RCV001087877 RCV001568328 RCV002313039 RCV005625368

NM_001110556.2(FLNA):c.2826+7A>G

SNV
Germline

ChrX:154361972

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA241179

rs_782545599

3 SubmittersRCV000175415 RCV001523057 RCV004537384

NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=)

SNV
Germline

ChrX:154360513

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA242187

rs_369583365

3 SubmittersRCV000176285 RCV001492722 RCV002321696

NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)

SNV
Germline

ChrX:154360510

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA242190

rs_199530601

6 SubmittersRCV000176286 RCV000724187 RCV001082209 RCV002317022 RCV004734786

NM_001110556.2(FLNA):c.3348C>A (p.Asp1116Glu)

SNV
Germline

ChrX:154360447

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA242192

rs_797044684

3 SubmittersRCV000723973 RCV002517695

NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)

SNV
Germline

ChrX:154359038

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA202041

rs_782129236

7 SubmittersRCV000176638 RCV000556510 RCV001589054 RCV002326964

NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)

SNV
Germline

ChrX:154352643

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA244988

rs_200524526

12 SubmittersRCV000724209 RCV001087795 RCV002314640 RCV005431524

NM_001110556.2(FLNA):c.623-7G>A

SNV
Germline

ChrX:154367745

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA245194

rs_782670288

4 SubmittersRCV000178164 RCV000724477 RCV001481245

NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)

SNV
Germline

ChrX:154351920

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA245558

rs_797044739

6 SubmittersRCV000178456 RCV001252501 RCV002228788 RCV002362915

NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys)

SNV
Germline

ChrX:154351607

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA245621

rs_781984348

2 SubmittersRCV000178490 RCV002054117

NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)

SNV
Germline

ChrX:154351591

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA245624

rs_781878646

5 SubmittersRCV000198176 RCV000724800 RCV001338631 RCV002362916

NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=)

SNV
Germline

ChrX:154348915

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA245803

rs_782774918

3 SubmittersRCV000178621 RCV001440632 RCV002408771

NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=)

SNV
Germline

ChrX:154348999

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA245806

rs_782372740

4 SubmittersRCV000178622 RCV002408772 RCV002516777

NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)

SNV
Germline

ChrX:154367532

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia 1

Criteria Provided
Conflicting Classifications

CA246036

rs_797044753

4 SubmittersRCV000178845 RCV001312936 RCV004786491

NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)

SNV
Germline

ChrX:154366818

Conflicting classifications of pathogenicity

not specified
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
9 conditions
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA246631

rs_192609440

10 SubmittersRCV000221578 RCV000471973 RCV000723962 RCV000764865 RCV002372101

NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)

SNV
Germline

ChrX:154366598

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA211152

rs_199853721

13 SubmittersRCV000192632 RCV000762689 RCV001082645 RCV004020157

NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)

SNV
Germline

ChrX:154348890

Conflicting classifications of pathogenicity

Abnormality of neuronal migration
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA210133

rs_369717556

9 SubmittersRCV000201336 RCV000866800 RCV001553477 RCV003987436 RCV004821998

NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)

SNV
Germline

ChrX:154358228

Pathogenic/Likely pathogenic

Cardiac valvular dysplasia, X-linked
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250342

rs_797045044

4 SubmittersRCV000191086 RCV000794294 RCV003480546

NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)

SNV
Germline

ChrX:154352231

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
9 conditions
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA206665

rs_797045581

6 SubmittersRCV000193289 RCV000660360 RCV000764861 RCV000806824 RCV001843491 RCV004020317

NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)

SNV
Germline

ChrX:154358526

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
9 conditions
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA209144

rs_797045579

6 SubmittersRCV000194760 RCV002229019 RCV003224214 RCV003736630 RCV005562318

NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)

SNV
Germline

ChrX:154360078

Conflicting classifications of pathogenicity

not specified
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA207260

rs_372265042

8 SubmittersRCV000193642 RCV000860929 RCV001651057 RCV002345692 RCV004541240

NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)

SNV
Germline

ChrX:154362285

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA205241

rs_188212919

5 SubmittersRCV000192424 RCV000711668 RCV001088605 RCV002426921

NM_001110556.2(FLNA):c.2538C>T (p.Tyr846=)

SNV
Germline

ChrX:154362445

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA208837

rs_782571710

3 SubmittersRCV000194585 RCV001450134 RCV005338100

NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)

SNV
Germline

ChrX:154366081

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA208448

rs_782791907

6 SubmittersRCV000194338 RCV001731512 RCV002229018 RCV003237759 RCV006659284

NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)

SNV
Germline

ChrX:154366215

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA206360

rs_782549299

6 SubmittersRCV000193102 RCV001041470 RCV001566737 RCV002314817

NM_001110556.2(FLNA):c.66C>T (p.Asp22=)

SNV
Germline

ChrX:154371180

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA208737

rs_782358007

5 SubmittersRCV000194522 RCV001520948 RCV001697271 RCV002317682 RCV004530114

NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)

SNV
Germline

ChrX:154348866

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322167

rs_200836471

5 SubmittersRCV000197706 RCV002229481 RCV005055705 RCV005562321

NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)

SNV
Germline

ChrX:154349469

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA319753

rs_371724771

5 SubmittersRCV000464368 RCV001411241 RCV002317721 RCV004530159

NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr)

SNV
Germline

ChrX:154349681

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA323904

rs_863223626

3 SubmittersRCV000723196 RCV001853156

NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)

SNV
Germline

ChrX:154349751

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA319805

rs_782557713

9 SubmittersRCV000640791 RCV001086641 RCV002315602 RCV004530161

NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)

SNV
Germline

ChrX:154350930

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324986

rs_781881872

3 SubmittersRCV001065255 RCV003330567 RCV004020369

NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)

SNV
Germline

ChrX:154350998

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA323932

rs_782739586

7 SubmittersRCV000756178 RCV001511862 RCV004020370 RCV004530160 RCV006445550

NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met)

SNV
Germline

ChrX:154351640

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325178

rs_782084497

2 SubmittersRCV002029943 RCV004822937

NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)

SNV
Germline

ChrX:154352837

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA321104

rs_200200745

4 SubmittersRCV000196682 RCV001089214 RCV002315599 RCV004530157

NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His)

SNV
Germline

ChrX:154353009

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA323761

rs_781956012

2 SubmittersRCV000505773 RCV001213910

NM_001110556.2(FLNA):c.6088G>A (p.Val2030Met)

SNV
Germline

ChrX:154353139

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324507

rs_781920955

3 SubmittersRCV000199955 RCV003765248 RCV006725777

NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile)

SNV
Germline

ChrX:154354014

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA322914

rs_781809353

2 SubmittersRCV000198414 RCV002517179

NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)

SNV
Germline

ChrX:154354455

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA320672

rs_373089783

6 SubmittersRCV000640752 RCV001705113 RCV002317720 RCV003993882

NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)

SNV
Germline

ChrX:154354678

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320471

rs_56102764

17 SubmittersRCV000196068 RCV000473909 RCV000680536 RCV001084884 RCV004020363

NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr)

SNV
Germline

ChrX:154355045

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA319891

rs_863223639

3 SubmittersRCV000195541 RCV001316709

NM_001110556.2(FLNA):c.4666A>G (p.Asn1556Asp)

SNV
Germline

ChrX:154358288

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA323968

rs_782605190

3 SubmittersRCV000199423 RCV002315601 RCV002515364

NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn)

SNV
Germline

ChrX:154359131

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324962

rs_863223617

2 SubmittersRCV001057778 RCV001705110

NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg)

SNV
Germline

ChrX:154359544

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321659

rs_782774182

3 SubmittersRCV000197214 RCV001089123 RCV003298256

NM_001110556.2(FLNA):c.3887G>A (p.Arg1296His)

SNV
Germline

ChrX:154359824

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324059

rs_863223623

4 SubmittersRCV000199516 RCV001853155 RCV006725776

NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val)

SNV
Germline

ChrX:154360389

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA320587

rs_782395522

2 SubmittersRCV000196168 RCV001853151

NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met)

SNV
Germline

ChrX:154360487

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA321289

rs_781970327

2 SubmittersRCV000196871 RCV001046907

NM_001110556.2(FLNA):c.3259C>T (p.Arg1087Cys)

SNV
Germline

ChrX:154360536

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325093

rs_782518956

3 SubmittersRCV000200512 RCV001396171 RCV005338105

NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)

SNV
Germline

ChrX:154361689

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321868

rs_375495397

4 SubmittersRCV001312410 RCV001705114 RCV002433879

NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met)

SNV
Germline

ChrX:154361992

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321493

rs_782180774

5 SubmittersRCV000197050 RCV000474233 RCV001818467 RCV002315598

NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)

SNV
Germline

ChrX:154362573

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
9 conditions

Criteria Provided
Conflicting Classifications

CA325253

rs_374130804

3 SubmittersRCV000200669 RCV002228871 RCV002492894

NM_001110556.2(FLNA):c.2361C>G (p.His787Gln)

SNV
Germline

ChrX:154362704

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA321022

rs_863223620

2 SubmittersRCV000196596 RCV001242749

NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=)

SNV
Germline

ChrX:154364097

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA322615

rs_782551055

5 SubmittersRCV000198128 RCV000640796 RCV003298255 RCV005641532

NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val)

SNV
Germline

ChrX:154364140

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324365

rs_781840723

5 SubmittersRCV000727059 RCV001043087 RCV002415839

NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)

SNV
Germline

ChrX:154364272

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Condition: not provided
not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322638

rs_371707134

7 SubmittersRCV000844958 RCV001711508 RCV001818466 RCV001853153 RCV002317718

NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)

SNV
Germline

ChrX:154364878

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Microcephaly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325283

rs_200673062

3 SubmittersRCV000868360 RCV001252920 RCV002408867

NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile)

SNV
Germline

ChrX:154364881

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323733

rs_782776511

5 SubmittersRCV000199201 RCV001499994 RCV001836752 RCV004822015

NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)

SNV
Germline

ChrX:154365206

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA325389

rs_743546

6 SubmittersRCV000200807 RCV002315603 RCV002228873 RCV001804931 RCV004530162

NM_001110556.2(FLNA):c.1616G>A (p.Gly539Asp)

SNV
Germline

ChrX:154365211

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA324424

rs_863223618

3 SubmittersRCV000199879 RCV001853152

NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)

SNV
Germline

ChrX:154365465

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA323155

rs_782371735

6 SubmittersRCV000198621 RCV000549670 RCV001358666 RCV004020371 RCV006263746

NM_001110556.2(FLNA):c.1366G>A (p.Val456Met)

SNV
Germline

ChrX:154366087

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320844

rs_782495199

4 SubmittersRCV000196428 RCV001253466 RCV002229106 RCV002381670

NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)

SNV
Germline

ChrX:154366162

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA323321

rs_781915319

5 SubmittersRCV000198798 RCV001721274 RCV002229105 RCV002381669 RCV004541259

NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)

SNV
Germline

ChrX:154366336

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA324252

rs_781879374

4 SubmittersRCV000199704 RCV000680543 RCV001857719 RCV004545760

NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)

SNV
Germline

ChrX:154366345

Conflicting classifications of pathogenicity

not specified
Connective tissue disorder
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324608

rs_200048692

12 SubmittersRCV000200054 RCV000659653 RCV000725233 RCV001084931 RCV004020366

NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)

SNV
Germline

ChrX:154367895

Conflicting classifications of pathogenicity

Condition: not provided
9 conditions
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322045

rs_782447567

4 SubmittersRCV000197586 RCV000764866 RCV001350783 RCV006659296

NM_001110556.2(FLNA):c.500C>A (p.Thr167Asn)

SNV
Germline

ChrX:154367964

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321035

rs_863223641

4 SubmittersRCV000196613 RCV003765250 RCV006725778

NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)

SNV
Germline

ChrX:154350109

Pathogenic

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10577654

rs_782308324

2 SubmittersRCV000215801 RCV001224993

NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)

SNV
Germline

ChrX:154365477

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10561173

rs_782168634

7 SubmittersRCV000224666 RCV000640774 RCV002311065 RCV004532826 RCV004701299

NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn)

SNV
Germline

ChrX:154362061

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560852

rs_782045915

3 SubmittersRCV000232732 RCV006445593 RCV006725789

NM_001110556.2(FLNA):c.2405-4G>A

SNV
Germline

ChrX:154362582

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560929

rs_368187218

2 SubmittersRCV000226047 RCV002315698

NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn)

SNV
Germline

ChrX:154365224

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561138

rs_782321294

2 SubmittersRCV000229495 RCV004020784

NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)

SNV
Germline

ChrX:154348997

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10559825

rs_782593788

3 SubmittersRCV001296877 RCV002311136 RCV004822029

NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala)

SNV
Germline

ChrX:154349514

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10587963

rs_886039104

2 SubmittersRCV000249081 RCV003765562

NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)

SNV
Germline

ChrX:154359631

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Aortic aneurysm, familial thoracic 2
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10560614

rs_200615848

8 SubmittersRCV000538824 RCV000584552 RCV001711765 RCV002311205 RCV004542961

NM_001110556.2(FLNA):c.1042C>G (p.Pro348Ala)

SNV
Germline

ChrX:154366585

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561292

rs_782643025

2 SubmittersRCV001859466 RCV002311167

NM_001110556.2(FLNA):c.76G>C (p.Ala26Pro)

SNV
Germline

ChrX:154371170

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587975

rs_886038966

2 SubmittersRCV001859453 RCV002310891

NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)

SNV
Germline

ChrX:154353119

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
not specified

Criteria Provided
Conflicting Classifications

CA10560164

rs_782221205

4 SubmittersRCV000276407 RCV003765587 RCV006701275

NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)

SNV
Germline

ChrX:154354260

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10560311

rs_782806731

5 SubmittersRCV000387082 RCV001407250 RCV004021087 RCV004542992

NM_001110556.2(FLNA):c.627G>A (p.Leu209=)

SNV
Germline

ChrX:154367734

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561383

rs_782118838

2 SubmittersRCV000388027 RCV001481815

NM_001110556.2(FLNA):c.1107C>T (p.Pro369=)

SNV
Germline

ChrX:154366429

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10604151

rs_886044791

2 SubmittersRCV000306175 RCV001435833

NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)

SNV
Germline

ChrX:154366597

Conflicting classifications of pathogenicity

not specified
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561294

rs_782007408

7 SubmittersRCV000346638 RCV000557383 RCV001571079 RCV004543003 RCV004822031

NM_001110556.2(FLNA):c.6770-5C>T

SNV
Germline

ChrX:154352026

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560032

rs_370913359

4 SubmittersRCV000277797 RCV002519125 RCV006659376

NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)

SNV
Germline

ChrX:154351987

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560030

rs_376461465

4 SubmittersRCV000324298 RCV001088929 RCV002365306

NM_001110556.2(FLNA):c.7245C>T (p.Pro2415=)

SNV
Germline

ChrX:154350119

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10604723

rs_886044822

2 SubmittersRCV000306739 RCV001434949

NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala)

SNV
Germline

ChrX:154360428

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560723

rs_368441729

3 SubmittersRCV000304105 RCV004021160 RCV003765619

NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)

SNV
Germline

ChrX:154353180

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560171

rs_781946802

4 SubmittersRCV000300291 RCV000702234 RCV004021206

NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=)

SNV
Germline

ChrX:154349839

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10559899

rs_369179210

6 SubmittersRCV000316860 RCV001469721 RCV002314022 RCV005434764

NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)

SNV
Germline

ChrX:154366627

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10605588

rs_886044859

6 SubmittersRCV000361495 RCV000725907 RCV001067290 RCV005338128

NM_001110556.2(FLNA):c.1110C>T (p.Phe370=)

SNV
Germline

ChrX:154366426

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10605751

rs_886044869

3 SubmittersRCV000288584 RCV002521972 RCV005562329

NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)

SNV
Germline

ChrX:154353052

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560153

rs_782779958

6 SubmittersRCV000726126 RCV001855201 RCV002314025 RCV003323495

NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)

SNV
Germline

ChrX:154360087

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560669

rs_200363918

7 SubmittersRCV000357488 RCV000690045 RCV000726216 RCV002356391

NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)

SNV
Germline

ChrX:154366211

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561221

rs_782598234

5 SubmittersRCV000293162 RCV002059257 RCV005831582

NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=)

SNV
Germline

ChrX:154351611

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559977

rs_201153928

4 SubmittersRCV000397344 RCV001081583 RCV002365323

NM_001110556.2(FLNA):c.5218-4G>A

SNV
Germline

ChrX:154354715

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560351

rs_370196495

6 SubmittersRCV000726349 RCV001086540 RCV002338858

NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter)

SNV
Germline

ChrX:154359008

Pathogenic

Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA10654933

rs_1057516198

1 SubmittersRCV000408810

NM_001110556.2(FLNA):c.6338A>G (p.Asn2113Ser)

SNV
Germline

ChrX:154352813

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA16043236

rs_1057518479

3 SubmittersRCV005222919 RCV006725810 RCV000414095

NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)

SNV
Germline

ChrX:154349490

Conflicting classifications of pathogenicity

not specified
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
9 conditions
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559860

rs_201762017

9 SubmittersRCV000435841 RCV000559847 RCV000760220 RCV000762685 RCV002393056

NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)

SNV
Germline

ChrX:154349812

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559894

rs_373103712

4 SubmittersRCV000444645 RCV002230253 RCV002379331

NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)

SNV
Germline

ChrX:154362511

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10560917

rs_782669943

7 SubmittersRCV000727012 RCV001079050 RCV002446650 RCV004735505 RCV006436775

NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr)

SNV
Germline

ChrX:154362676

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560948

rs_201073998

4 SubmittersRCV000426387 RCV000547200 RCV002450976 RCV006268767

NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)

SNV
Germline

ChrX:154371181

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561466

rs_782598729

5 SubmittersRCV000539831 RCV000513921 RCV002374716

NM_001110556.2(FLNA):c.4918G>A (p.Gly1640Arg)

SNV
Germline

ChrX:154357461

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA16608774

rs_1057524434

2 SubmittersRCV000418133 RCV002522679

NM_001110556.2(FLNA):c.3207+5T>C

SNV
Germline

ChrX:154361303

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10560758

rs_782555499

2 SubmittersRCV000427723 RCV003766366

NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg)

SNV
Germline

ChrX:154349481

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16609149

rs_1057520770

3 SubmittersRCV000427375 RCV001851053 RCV004619286

NM_001110556.2(FLNA):c.2608C>T (p.His870Tyr)

SNV
Germline

ChrX:154362290

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16609151

rs_1057524473

3 SubmittersRCV000424847 RCV003766455 RCV006659473

NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)

SNV
Germline

ChrX:154366751

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA10561322

rs_371830740

7 SubmittersRCV000419413 RCV001214184 RCV002374687 RCV005407103 RCV005625600

NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser)

SNV
Germline

ChrX:154353704

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560238

rs_782549964

7 SubmittersRCV000502032 RCV000786134 RCV002230759 RCV005831606

NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)

SNV
Germline

ChrX:154354010

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA10560273

rs_782095418

5 SubmittersRCV000476019 RCV002348277 RCV004791466 RCV004584385

NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)

SNV
Germline

ChrX:154360127

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA16616451

rs_1060500716

1 SubmittersRCV002230317

NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser)

SNV
Germline

ChrX:154362491

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560912

rs_781846227

3 SubmittersRCV000459346 RCV002307501 RCV002318517

NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)

SNV
Germline

ChrX:154352226

Pathogenic

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16616627

rs_1060500717

3 SubmittersRCV000728731 RCV001387919

NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)

SNV
Germline

ChrX:154360272

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560695

rs_370202395

4 SubmittersRCV000513123 RCV002230319 RCV003488602 RCV006725825

NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)

SNV
Germline

ChrX:154364551

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hepatoblastoma

Criteria Provided
Conflicting Classifications

CA10561034

rs_374295965

5 SubmittersRCV000462684 RCV000996069 RCV002418357 RCV001843519

NM_001110556.2(FLNA):c.6503-2A>C

SNV
Germline

ChrX:154352449

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA16616646

rs_112363874

1 SubmittersRCV001379313

NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)

SNV
Germline

ChrX:154359551

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560601

rs_369768801

4 SubmittersRCV001508979 RCV002230323 RCV002323688

NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu)

SNV
Germline

ChrX:154366817

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10561329

rs_371600068

2 SubmittersRCV000728206 RCV002230761

NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val)

SNV
Germline

ChrX:154351974

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA16621252

rs_1004772663

2 SubmittersRCV000486105 RCV003766698

NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)

SNV
Germline

ChrX:154364584

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10561041

rs_782563602

8 SubmittersRCV000728595 RCV002230953 RCV002313254 RCV001821400

NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met)

SNV
Germline

ChrX:154366313

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10561236

rs_781827791

2 SubmittersRCV000479665 RCV002231116

NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val)

SNV
Germline

ChrX:154360383

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10560710

rs_782318545

2 SubmittersRCV000489979 RCV002526013

NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg)

SNV
Germline

ChrX:154368070

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA415251018

rs_1085307783

4 SubmittersRCV000489668 RCV006556079

NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys)

SNV
Germline

ChrX:154364684

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415241965

rs_1131691935

4 SubmittersRCV000494059 RCV001865554 RCV006386860

NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)

SNV
Germline

ChrX:154360020

Pathogenic

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Periventricular nodular heterotopia

Criteria Provided
Multiple Submitters
No Conflicts

CA415222631

rs_1557177663

3 SubmittersRCV000497491 RCV003766799 RCV004767308

NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys)

SNV
Germline

ChrX:154364363

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA415239095

rs_1380007907

3 SubmittersRCV000498535 RCV001306738 RCV004527607

NM_001110556.2(FLNA):c.6846G>A (p.Glu2282=)

SNV
Germline

ChrX:154351945

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560026

rs_781972193

3 SubmittersRCV000500948 RCV001491264 RCV002367687

NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)

SNV
Germline

ChrX:154352225

Conflicting classifications of pathogenicity

not specified
9 conditions
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560049

rs_781984274

4 SubmittersRCV000500138 RCV000764860 RCV002230984 RCV002367688

NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met)

SNV
Germline

ChrX:154352661

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560094

rs_201396725

6 SubmittersRCV000502222 RCV000686436 RCV001549890 RCV002367689

NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly)

SNV
Germline

ChrX:154352844

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560119

rs_370277156

4 SubmittersRCV000504288 RCV001692150 RCV002230985 RCV005841583

NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)

SNV
Germline

ChrX:154359317

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560569

rs_782426283

8 SubmittersRCV000504106 RCV000838677 RCV001085359 RCV000985096 RCV002314867

NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)

SNV
Germline

ChrX:154365247

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561145

rs_782450368

5 SubmittersRCV000503127 RCV001509132 RCV001857098 RCV004822079

NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)

SNV
Germline

ChrX:154368003

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified
Cardiac valvular dysplasia, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561407

rs_782240483

6 SubmittersRCV002231175 RCV006725847 RCV000499997 RCV001196653 RCV001764485

NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)

SNV
Germline

ChrX:154371221

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561473

rs_782292045

5 SubmittersRCV000501455 RCV002056848 RCV002431459 RCV004541557

NM_001110556.2(FLNA):c.7333+1G>A

SNV
Germline

ChrX:154350030

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415183225

rs_1557175424

1 SubmittersRCV000656111

NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)

SNV
Germline

ChrX:154350999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559960

rs_781823700

5 SubmittersRCV000516195 RCV001508977 RCV002231200 RCV002314899

NM_001110556.2(FLNA):c.4113C>T (p.Asn1371=)

SNV
Germline

ChrX:154359513

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA519707561

rs_1557177508

3 SubmittersRCV000517801 RCV003766921 RCV005841588

NM_001110556.2(FLNA):c.6317A>G (p.Tyr2106Cys)

SNV
Germline

ChrX:154352834

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10560116

rs_781892077

3 SubmittersRCV000522458 RCV004609421 RCV006556177

NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln)

SNV
Germline

ChrX:154354282

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10560313

rs_782134110

3 SubmittersRCV000520698 RCV001306960 RCV006452712

NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)

SNV
Germline

ChrX:154354904

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
9 conditions

Criteria Provided
Conflicting Classifications

CA10560384

rs_782555986

5 SubmittersRCV000520883 RCV001084701 RCV004023535 RCV005398747

NM_001110556.2(FLNA):c.4898G>A (p.Arg1633His)

SNV
Germline

ChrX:154357481

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10560448

rs_782500981

3 SubmittersRCV000523870 RCV006659607 RCV006556167

NM_001110556.2(FLNA):c.3814C>T (p.Arg1272Cys)

SNV
Germline

ChrX:154359897

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415222401

rs_1420631223

3 SubmittersRCV000519592 RCV001853670 RCV002316477

NM_001110556.2(FLNA):c.16T>C (p.Ser6Pro)

SNV
Germline

ChrX:154371230

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415255897

rs_1557180289

3 SubmittersRCV000524050 RCV001857974

NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)

SNV
Germline

ChrX:154349738

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337272867

rs_909387820

5 SubmittersRCV001591231 RCV002232268 RCV002384138

NM_001110556.2(FLNA):c.4143-1G>T

SNV
Germline

ChrX:154359407

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415219093

rs_1557177485

1 SubmittersRCV002231779

NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp)

SNV
Germline

ChrX:154362014

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560844

rs_190437842

2 SubmittersRCV002231778 RCV002438369

NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn)

SNV
Germline

ChrX:154367927

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415249497

rs_1557179655

2 SubmittersRCV002231781 RCV002232265

NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp)

SNV
Germline

ChrX:154352640

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560091

rs_782761341

3 SubmittersRCV002231783 RCV003330766 RCV004777719

NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu)

SNV
Germline

ChrX:154352883

Conflicting classifications of pathogenicity

Wolff-Parkinson-White pattern
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337274985

rs_968230475

5 SubmittersRCV000656208 RCV002231782 RCV003332193 RCV004787885 RCV005562387

NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)

SNV
Germline

ChrX:154353407

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10560201

rs_190712778

5 SubmittersRCV000532103 RCV001571401 RCV002358505 RCV004735600

NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)

SNV
Germline

ChrX:154359520

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560599

rs_376774130

6 SubmittersRCV000729237 RCV001079000 RCV002314983

NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)

SNV
Germline

ChrX:154365374

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561155

rs_782765195

4 SubmittersRCV000711667 RCV002231777 RCV004619325 RCV004735599

NM_001110556.2(FLNA):c.1120G>A (p.Val374Met)

SNV
Germline

ChrX:154366416

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10561253

rs_201681328

4 SubmittersRCV000537961 RCV001591230 RCV004822099 RCV005407713

NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser)

SNV
Germline

ChrX:154349563

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559870

rs_782383611

3 SubmittersRCV000560750 RCV001556338 RCV002395382

NM_001110556.2(FLNA):c.4945+3G>A

SNV
Germline

ChrX:154357431

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Intellectual disability
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560442

rs_372673802

3 SubmittersRCV000525468 RCV001252499 RCV002341326

NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr)

SNV
Germline

ChrX:154359641

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560616

rs_782746289

3 SubmittersRCV000526244 RCV001786399 RCV003302829

NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser)

SNV
Germline

ChrX:154360026

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560663

rs_781896277

2 SubmittersRCV002232258 RCV004772968

NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)

SNV
Germline

ChrX:154350159

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10559936

rs_202152952

4 SubmittersRCV000553794 RCV002377082 RCV003480675

NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)

SNV
Germline

ChrX:154351928

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
9 conditions
not specified
Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10560021

rs_782275601

5 SubmittersRCV000528311 RCV000764859 RCV001821546 RCV002367847 RCV003389055

NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met)

SNV
Germline

ChrX:154353367

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560199

rs_782639698

5 SubmittersRCV000544722 RCV001561889 RCV002358506

NM_001110556.2(FLNA):c.2280+389T>A

SNV
Germline

ChrX:154363633

Pathogenic

Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA658659064

rs_1557178535

1 SubmittersRCV000577901

NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)

SNV
Germline

ChrX:154366562

Pathogenic

Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Melanoma

Criteria Provided
Single Submitter

CA519709643

rs_1557179325

3 SubmittersRCV000577926 RCV002529037 RCV005898543

NM_001110556.2(FLNA):c.82A>G (p.Met28Val)

SNV
Germline

ChrX:154371164

Pathogenic

Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA415255649

rs_1557180226

1 SubmittersRCV000577884

NM_001110556.2(FLNA):c.3095G>A (p.Arg1032His)

SNV
Germline

ChrX:154361420

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
not specified

Criteria Provided
Conflicting Classifications

CA10560779

rs_781782783

3 SubmittersRCV000584929 RCV001853959 RCV004586809

NM_001110556.2(FLNA):c.3555C>T (p.Cys1185=)

SNV
Germline

ChrX:154360240

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA519708300

rs_1477689141

2 SubmittersRCV000591825 RCV002532371

NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)

SNV
Germline

ChrX:154365466

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561169

rs_61730768

6 SubmittersRCV000598415 RCV001085228 RCV002317335 RCV004735640

NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)

SNV
Germline

ChrX:154350973

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
not specified
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10559957

rs_782591917

6 SubmittersRCV000593881 RCV001518246 RCV001821721 RCV002368008 RCV004543341

NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)

SNV
Germline

ChrX:154350105

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10559929

rs_782289803

4 SubmittersRCV000595937 RCV000697313 RCV002315890 RCV003323625

NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)

SNV
Germline

ChrX:154360579

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560744

rs_782006734

5 SubmittersRCV000727456 RCV001421208 RCV002325135 RCV004586823

NM_001110556.2(FLNA):c.7052C>G (p.Ala2351Gly)

SNV
Germline

ChrX:154351013

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10559962

rs_782583650

3 SubmittersRCV000593962 RCV002062106

NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)

SNV
Germline

ChrX:154366143

Conflicting classifications of pathogenicity

not specified
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561208

rs_782320818

7 SubmittersRCV000594598 RCV000863539 RCV003437298 RCV004024862

NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)

SNV
Germline

ChrX:154349473

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415180314

rs_1557175287

3 SubmittersRCV001508976 RCV001855225

NM_001110556.2(FLNA):c.5662G>A (p.Val1888Ile)

SNV
Germline

ChrX:154353939

Conflicting classifications of pathogenicity

not specified
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560264

rs_782669152

2 SubmittersRCV000603707 RCV003767707

NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn)

SNV
Germline

ChrX:154349541

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415180992

rs_1485769153

4 SubmittersRCV001855278 RCV002313372 RCV005626111 RCV006265127

NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=)

SNV
Germline

ChrX:154353699

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560236

rs_367674709

4 SubmittersRCV000728023 RCV001080153 RCV002313356

NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu)

SNV
Germline

ChrX:154354915

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415207674

rs_1557176627

3 SubmittersRCV002232770 RCV002313373 RCV005870682

NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)

SNV
Germline

ChrX:154359342

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560573

rs_781976719

3 SubmittersRCV001052134 RCV002313358 RCV003238784

NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)

SNV
Germline

ChrX:154360571

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560743

rs_782406278

4 SubmittersRCV001239163 RCV001553199 RCV002313368 RCV003403430

NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)

SNV
Germline

ChrX:154361409

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560776

rs_781844419

6 SubmittersRCV001868125 RCV002261135 RCV002246005 RCV004025254

NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)

SNV
Germline

ChrX:154362742

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560955

rs_371839875

6 SubmittersRCV000704079 RCV002313349 RCV004544811 RCV004791631

NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp)

SNV
Germline

ChrX:154364842

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415242304

rs_200116438

2 SubmittersRCV000793024 RCV002313350

NM_001110556.2(FLNA):c.1698C>G (p.Phe566Leu)

SNV
Germline

ChrX:154364951

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561094

rs_781830848

2 SubmittersRCV002313374 RCV003767808

NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)

SNV
Germline

ChrX:154366139

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10561207

rs_372113435

5 SubmittersRCV001405516 RCV002264962 RCV004025253 RCV003987624 RCV005900076

NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)

SNV
Germline

ChrX:154349533

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415180901

rs_1557175308

3 SubmittersRCV002531894 RCV004527686 RCV004025271

NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)

SNV
Germline

ChrX:154349748

Conflicting classifications of pathogenicity

Inborn genetic diseases
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337272875

rs_782190081

3 SubmittersRCV000624170 RCV001215878 RCV001562219

NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu)

SNV
Germline

ChrX:154360184

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560685

rs_376726422

3 SubmittersRCV002233039 RCV002458054 RCV006650335

NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=)

SNV
Germline

ChrX:154360465

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560726

rs_781917512

3 SubmittersRCV000728255 RCV000640803 RCV002325249

NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)

SNV
Germline

ChrX:154349380

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559848

rs_377518545

4 SubmittersRCV000640759 RCV002259358 RCV003485620 RCV004025610

NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)

SNV
Germline

ChrX:154352775

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
9 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560110

rs_782400832

4 SubmittersRCV000640747 RCV000764862 RCV003238797

NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys)

SNV
Germline

ChrX:154361403

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415230375

rs_1187268269

3 SubmittersRCV002233046 RCV004777791

NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys)

SNV
Germline

ChrX:154365214

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415243188

rs_1557178932

2 SubmittersRCV002233487 RCV004760667

NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser)

SNV
Germline

ChrX:154359014

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560530

rs_782349011

2 SubmittersRCV000640744 RCV006663043

NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)

SNV
Germline

ChrX:154360266

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415224704

rs_1557177738

1 SubmittersRCV000640729

NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe)

SNV
Germline

ChrX:154351010

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415185222

rs_1557175646

2 SubmittersRCV002233041 RCV002360567

NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)

SNV
Germline

ChrX:154352222

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection
Cardiac valvular dysplasia, X-linked

Criteria Provided
Conflicting Classifications

CA337274538

rs_953454766

6 SubmittersRCV000640755 RCV001756067 RCV003387899 RCV004025609 RCV004788070

NM_001110556.2(FLNA):c.5686+1G>C

SNV
Germline

ChrX:154353914

Likely pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415200173

rs_1557176315

1 SubmittersRCV002233040

NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)

SNV
Germline

ChrX:154360535

Conflicting classifications of pathogenicity

FG syndrome 2
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560737

rs_369668866

2 SubmittersRCV001332003 RCV002233488

NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro)

SNV
Germline

ChrX:154362500

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415236386

rs_1347740802

2 SubmittersRCV002232799 RCV005632544

NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile)

SNV
Germline

ChrX:154352343

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560059

rs_782562592

3 SubmittersRCV000657942 RCV002317904 RCV002534262

NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile)

SNV
Germline

ChrX:154352589

Conflicting classifications of pathogenicity

Connective tissue disorder
FLNA-related disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560083

rs_367655833

3 SubmittersRCV000659674 RCV004533445 RCV003767912

NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)

SNV
Germline

ChrX:154359786

Conflicting classifications of pathogenicity

Connective tissue disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560637

rs_782412141

3 SubmittersRCV000659666 RCV001307125 RCV002369782

NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys)

SNV
Germline

ChrX:154361421

Conflicting classifications of pathogenicity

Connective tissue disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560780

rs_782546714

3 SubmittersRCV000659661 RCV001066358 RCV001584517

NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln)

SNV
Germline

ChrX:154365429

Conflicting classifications of pathogenicity

Connective tissue disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10561160

rs_782539251

4 SubmittersRCV000659654 RCV001323349 RCV002464284 RCV005901415

NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met)

SNV
Germline

ChrX:154359635

Conflicting classifications of pathogenicity

Connective tissue disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415220875

rs_1569551635

2 SubmittersRCV000680539 RCV001239792

NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)

SNV
Germline

ChrX:154366398

Conflicting classifications of pathogenicity

Connective tissue disorder
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561251

rs_782090266

4 SubmittersRCV000680544 RCV000808311 RCV001575087 RCV004735742

NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter)

SNV
Unknown

ChrX:154352019

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

No Assertion Criteria Provided

CA415187126

rs_1569551449

1 SubmittersRCV000681483

NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met)

SNV
Germline

ChrX:154358258

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415214750

rs_1181500076

4 SubmittersRCV001420603 RCV001653977 RCV002233140 RCV006725934

NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)

SNV
Germline

ChrX:154359846

Pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415222192

rs_1557177623

1 SubmittersRCV002233306

NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)

SNV
Germline

ChrX:154354944

Conflicting classifications of pathogenicity

Intellectual disability
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560389

rs_782351877

2 SubmittersRCV001260710 RCV002233446

NM_001110556.2(FLNA):c.3979+5G>A

SNV
Germline

ChrX:154359727

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA891844349

rs_1569551642

3 SubmittersRCV002233254 RCV002264977 RCV005860130

NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)

SNV
Germline

ChrX:154361783

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560820

rs_782451202

2 SubmittersRCV002233562 RCV002440463

NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)

SNV
Germline

ChrX:154364956

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
FLNA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10561096

rs_782580317

3 SubmittersRCV000690722 RCV004535717 RCV005231276

NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)

SNV
Germline

ChrX:154367685

Pathogenic

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA415248831

rs_1569551861

2 SubmittersRCV000788202 RCV002232970

NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)

SNV
Germline

ChrX:154353628

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder
FG syndrome 2

Criteria Provided
Conflicting Classifications

CA10560228

rs_782359458

6 SubmittersRCV002233235 RCV001771953 RCV004025105 RCV004527743 RCV004788126

NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn)

SNV
Germline

ChrX:154359771

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415221592

rs_1557177584

2 SubmittersRCV002232833 RCV004820863

NM_001110556.2(FLNA):c.2565+1G>A

SNV
Germline

ChrX:154362417

Pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415235599

rs_786205186

1 SubmittersRCV002233328

NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp)

SNV
Germline

ChrX:154367439

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415248429

rs_1172505050

3 SubmittersRCV002233659 RCV003159156

NM_001110556.2(FLNA):c.77C>T (p.Ala26Val)

SNV
Germline

ChrX:154371169

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561464

rs_782637786

2 SubmittersRCV002233163 RCV004535709

NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)

SNV
Germline

ChrX:154354983

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560398

rs_782469665

4 SubmittersRCV000690268 RCV003736890 RCV005407887 RCV004822169

NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)

SNV
Germline

ChrX:154371121

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415255455

rs_1569551930

2 SubmittersRCV002233290 RCV002424658

NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys)

SNV
Germline

ChrX:154351667

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10559986

rs_782129661

3 SubmittersRCV000711673 RCV001325801

NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu)

SNV
Germline

ChrX:154354689

Conflicting classifications of pathogenicity

FLNA-related disorder
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415206701

rs_1557176526

3 SubmittersRCV004527757 RCV003768117 RCV004619401

NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)

SNV
Germline

ChrX:154364273

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia 1
FG syndrome 2
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561009

rs_782287086

3 SubmittersRCV000714633 RCV000714634 RCV002532972 RCV004535771

NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)

SNV
Germline

ChrX:154366183

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
9 conditions

Criteria Provided
Conflicting Classifications

CA10561214

rs_782066542

4 SubmittersRCV001546023 RCV001862046 RCV002315302 RCV002485809

NM_001110556.2(FLNA):c.5275C>G (p.Pro1759Ala)

SNV
Germline

ChrX:154354654

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415206466

rs_1382076574

3 SubmittersRCV000720969 RCV004760756 RCV006556583

NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met)

SNV
Germline

ChrX:154354980

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10560396

rs_782751731

2 SubmittersRCV002318681 RCV002534931

NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys)

SNV
Germline

ChrX:154359255

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560559

rs_192337215

3 SubmittersRCV001060925 RCV002315348 RCV005431900

NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)

SNV
Germline

ChrX:154361541

Conflicting classifications of pathogenicity

9 conditions
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560791

rs_782445995

4 SubmittersRCV000767980 RCV001484126 RCV002313493 RCV006278062

NM_001110556.2(FLNA):c.1688G>A (p.Arg563His)

SNV
Germline

ChrX:154365139

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561118

rs_781852373

2 SubmittersRCV001224183 RCV002318721

NM_001110556.2(FLNA):c.1455G>A (p.Ala485=)

SNV
Germline

ChrX:154365461

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified
FLNA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561167

rs_782650242

6 SubmittersRCV001868376 RCV002318315 RCV003330921 RCV004535800 RCV005223145

NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys)

SNV
Germline

ChrX:154366054

Conflicting classifications of pathogenicity

FG syndrome 2
Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561192

rs_367948333

3 SubmittersRCV001332001 RCV002318784 RCV003768147

NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn)

SNV
Germline

ChrX:154364654

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561055

rs_782718606

4 SubmittersRCV001054971 RCV001552337 RCV002317635

NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)

SNV
Germline

ChrX:154366608

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
9 conditions
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561295

rs_371368679

3 SubmittersRCV002314533 RCV002477658 RCV003768132

NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)

SNV
Germline

ChrX:154354973

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA337276632

rs_782352193

3 SubmittersRCV000722508 RCV001862119

NM_001110556.2(FLNA):c.2147G>A (p.Gly716Asp)

SNV
Germline

ChrX:154364155

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
not specified

Criteria Provided
Conflicting Classifications

CA10560999

rs_782697176

3 SubmittersRCV000723246 RCV005223146 RCV006459864

NM_001110556.2(FLNA):c.1287G>A (p.Thr429=)

SNV
Germline

ChrX:154366166

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561210

rs_782263267

3 SubmittersRCV000729937 RCV002060986 RCV002386296

NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu)

SNV
Germline

ChrX:154361563

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560795

rs_782513930

3 SubmittersRCV000731636 RCV003768214 RCV006663249

NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile)

SNV
Germline

ChrX:154364615

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561046

rs_373286506

3 SubmittersRCV000732451 RCV001855685 RCV002406668

NM_001110556.2(FLNA):c.4857C>T (p.Leu1619=)

SNV
Germline

ChrX:154357522

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560454

rs_368536975

3 SubmittersRCV000733935 RCV001396578 RCV004027076

NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)

SNV
Germline

ChrX:154359777

Conflicting classifications of pathogenicity

6 conditions
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560635

rs_781928289

5 SubmittersRCV000754796 RCV001219151 RCV002370002 RCV003987692 RCV004588162

NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)

SNV
Germline

ChrX:154352921

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560131

rs_781860863

4 SubmittersRCV000756177 RCV001324932 RCV006386968 RCV005418328

NM_001110556.2(FLNA):c.3515G>A (p.Arg1172Gln)

SNV
Germline

ChrX:154360280

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560697

rs_782694926

3 SubmittersRCV000756181 RCV005225114 RCV006725977

NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp)

SNV
Germline

ChrX:154365454

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561166

rs_782434042

4 SubmittersRCV000756179 RCV001855871 RCV006663260

NM_001110556.2(FLNA):c.2260A>G (p.Ile754Val)

SNV
Germline

ChrX:154364042

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415237656

rs_1569551769

3 SubmittersRCV000762688 RCV002442571 RCV006556629

NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter)

SNV
Germline

ChrX:154366417

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415246576

rs_782121971

2 SubmittersRCV000851369

NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)

SNV
Germline

ChrX:154358294

Pathogenic/Likely pathogenic

Cardiac valvular dysplasia, X-linked
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA415214889

rs_1603360542

6 SubmittersRCV000787478 RCV001269936 RCV004822196 RCV006556678

NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro)

SNV
Germline

ChrX:154371226

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561475

rs_781814342

3 SubmittersRCV001219313 RCV001577378 RCV004527818

NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)

SNV
Germline

ChrX:154349820

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415182885

rs_1557175387

2 SubmittersRCV002235900 RCV002285414

NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)

SNV
Germline

ChrX:154350190

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559939

rs_782645927

3 SubmittersRCV000804857 RCV001759539 RCV005562470

NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)

SNV
Germline

ChrX:154352574

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560082

rs_782477734

3 SubmittersRCV000814405 RCV001811501 RCV002363115

NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)

SNV
Germline

ChrX:154353443

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA10560207

rs_10458342

3 SubmittersRCV002352379 RCV003768508 RCV005902007 RCV005902006

NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)

SNV
Germline

ChrX:154355033

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415208427

rs_1381802174

2 SubmittersRCV002235442 RCV003442116

NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)

SNV
Germline

ChrX:154357476

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415213496

rs_1400230946

2 SubmittersRCV002233869 RCV004822202

NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)

SNV
Germline

ChrX:154357545

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415214088

rs_782082407

2 SubmittersRCV002234249 RCV006725992

NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)

SNV
Germline

ChrX:154357607

Conflicting classifications of pathogenicity

Sudden unexplained death in childhood
Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560464

rs_372729831

4 SubmittersRCV001788358 RCV001550579 RCV002235050 RCV005841643

NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)

SNV
Germline

ChrX:154359115

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415217120

rs_201886752

2 SubmittersRCV002235904 RCV002508261

NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)

SNV
Germline

ChrX:154359556

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10560603

rs_782490288

5 SubmittersRCV002234231 RCV004692257 RCV006663311 RCV005901959

NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)

SNV
Germline

ChrX:154361408

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560775

rs_782758177

3 SubmittersRCV000804267 RCV001592997 RCV006666299

NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)

SNV
Germline

ChrX:154362284

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560879

rs_185503240

3 SubmittersRCV000821182 RCV002427058 RCV006279246

NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)

SNV
Germline

ChrX:154364551

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561035

rs_374295965

4 SubmittersRCV002235075 RCV002422830 RCV005240609 RCV006279233

NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)

SNV
Germline

ChrX:154365388

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10561158

rs_782698277

2 SubmittersRCV001766707 RCV002234870

NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)

SNV
Germline

ChrX:154365462

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561168

rs_782262202

3 SubmittersRCV000805539 RCV002388515 RCV004538103

NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)

SNV
Germline

ChrX:154371217

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10561472

rs_781988041

2 SubmittersRCV002274101 RCV002234288

NM_001110556.2(FLNA):c.4142+1G>A

SNV
Germline

ChrX:154359483

Likely pathogenic

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415219190

rs_1603360906

1 SubmittersRCV002235125

NM_001110556.2(FLNA):c.4474+4A>G

SNV
Germline

ChrX:154358980

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA915952161

rs_1603360728

2 SubmittersRCV000840662 RCV005225165

NM_001110556.2(FLNA):c.2023-5G>A

SNV
Germline

ChrX:154364377

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561022

rs_782694533

3 SubmittersRCV000861508 RCV002415979 RCV004538179

NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile)

SNV
Germline

ChrX:154349554

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559866

rs_187774579

5 SubmittersRCV001403633 RCV003884760 RCV005240655 RCV005831694

NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe)

SNV
Germline

ChrX:154352913

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560129

rs_782157246

3 SubmittersRCV000864751 RCV001664498 RCV002352524

NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)

SNV
Germline

ChrX:154357480

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560447

rs_781846478

4 SubmittersRCV000865300 RCV001533923 RCV001816970 RCV003169117

NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile)

SNV
Germline

ChrX:154360100

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10560671

rs_782495669

5 SubmittersRCV000865430 RCV001539581 RCV003396504

NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)

SNV
Germline

ChrX:154349560

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10559869

rs_782244918

2 SubmittersRCV000871844 RCV001766780

NM_001110556.2(FLNA):c.1045G>A (p.Glu349Lys)

SNV
Germline

ChrX:154366582

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561291

rs_370490152

3 SubmittersRCV002066179 RCV002400070 RCV003332272

NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys)

SNV
Germline

ChrX:154352349

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560062

rs_782621818

3 SubmittersRCV000996061 RCV001858827 RCV002363519

NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)

SNV
Germline

ChrX:154353316

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415197078

rs_1483960506

5 SubmittersRCV000996065 RCV001205098 RCV002354903

NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter)

SNV
Germline

ChrX:154351583

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415185460

rs_1603358919

1 SubmittersRCV000995766

NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)

SNV
Germline

ChrX:154358540

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA519707301

rs_1324926264

4 SubmittersRCV001000791 RCV001836929 RCV002068759 RCV004822283

NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)

SNV
Germline

ChrX:154349559

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection
Thrombocytopenia

Criteria Provided
Conflicting Classifications

CA10559868

rs_781959191

3 SubmittersRCV001061077 RCV003160489 RCV003447576

NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)

SNV
Germline

ChrX:154349733

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559887

rs_782563616

3 SubmittersRCV001065270 RCV001759832 RCV006666718

NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)

SNV
Germline

ChrX:154353654

Pathogenic

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415199593

rs_1359141531

1 SubmittersRCV001061715

NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)

SNV
Germline

ChrX:154354479

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337276309

rs_377576796

4 SubmittersRCV001037769 RCV001585937 RCV004536069 RCV005338509

NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)

SNV
Germline

ChrX:154362248

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415233338

rs_201523624

3 SubmittersRCV001036049 RCV004590034 RCV004822286

NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)

SNV
Germline

ChrX:154365194

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
9 conditions

Criteria Provided
Conflicting Classifications

CA415243143

rs_1443563081

2 SubmittersRCV001050757 RCV005047247

NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)

SNV
Germline

ChrX:154366077

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561198

rs_375463904

5 SubmittersRCV001039819 RCV001564098 RCV002379498

NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)

SNV
Germline

ChrX:154366377

Pathogenic

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415244422

rs_2067760741

1 SubmittersRCV001071657

NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)

SNV
Germline

ChrX:154366593

Pathogenic

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415247113

rs_2067763458

1 SubmittersRCV001058596

NM_001110556.2(FLNA):c.2827-2A>C

SNV
Germline

ChrX:154361789

Likely pathogenic

Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415232055

rs_2067713488

1 SubmittersRCV001065114

NM_001110556.2(FLNA):c.1065+1G>T

SNV
Germline

ChrX:154366561

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415246936

rs_2067762985

1 SubmittersRCV001043643

NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)

SNV
Germline

ChrX:154360104

Conflicting classifications of pathogenicity

Cardiac valvular dysplasia, X-linked
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415223286

rs_1191721014

3 SubmittersRCV001197889 RCV001241517 RCV006655786

NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)

SNV
Germline

ChrX:154362516

Conflicting classifications of pathogenicity

Cardiac valvular dysplasia, X-linked
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415236565

rs_1557178278

2 SubmittersRCV001195903 RCV003770199

NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)

SNV
Unknown

ChrX:154364624

Pathogenic/Likely pathogenic

Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA415241613

rs_782178831

2 SubmittersRCV001197823 RCV001332002

NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)

SNV
Germline

ChrX:154364638

Conflicting classifications of pathogenicity

Cardiac valvular dysplasia, X-linked
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561050

rs_267606815

2 SubmittersRCV001198242 RCV006557192

NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)

SNV
Germline

ChrX:154358448

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10560504

rs_782460301

3 SubmittersRCV001219915 RCV001813815 RCV004768928

NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)

SNV
Germline

ChrX:154367459

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561356

rs_782157170

4 SubmittersRCV001221637 RCV001732079 RCV003490132 RCV006372268

NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)

SNV
Germline

ChrX:154360053

Pathogenic

Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415222811

rs_2067693064

1 SubmittersRCV001211252

NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)

SNV
Germline

ChrX:154361534

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
9 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560790

rs_3819330

3 SubmittersRCV001208356 RCV002484125 RCV006279431

NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)

SNV
Germline

ChrX:154348931

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559815

rs_782302420

2 SubmittersRCV001238709 RCV006726176

NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)

SNV
Germline

ChrX:154349840

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10559900

rs_781788290

4 SubmittersRCV001225484 RCV004032537 RCV004782675 RCV006279460

NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)

SNV
Germline

ChrX:154353442

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415198343

rs_1198953814

3 SubmittersRCV001229938 RCV003145437

NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)

SNV
Germline

ChrX:154357555

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA415214128

rs_781789823

1 SubmittersRCV001232709

NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)

SNV
Germline

ChrX:154352646

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560093

rs_782142395

4 SubmittersRCV001243216 RCV003442806 RCV005562643

NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)

SNV
Germline

ChrX:154358243

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560486

rs_190415098

4 SubmittersRCV001247915 RCV001566470 RCV004528438 RCV004822339

NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)

SNV
Germline

ChrX:154366449

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA415246765

rs_2067761804

1 SubmittersRCV001241863

NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser)

SNV
Germline

ChrX:154354232

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560306

rs_782269425

4 SubmittersRCV001260709 RCV001558240 RCV003770351 RCV006656044

NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser)

SNV
Germline

ChrX:154353353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415197441

rs_1557176194

3 SubmittersRCV001374498 RCV003770356 RCV006656045

NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr)

SNV
Germline

ChrX:154361492

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415230823

rs_1557178033

3 SubmittersRCV001262956 RCV001751529 RCV003770368

NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)

SNV
Germline

ChrX:154354175

Conflicting classifications of pathogenicity

Inborn genetic diseases
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10560294

rs_782307604

2 SubmittersRCV001266376 RCV003770388

NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys)

SNV
Germline

ChrX:154351604

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10559975

rs_782689584

2 SubmittersRCV001810698 RCV002541802

NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)

SNV
Germline

ChrX:154353452

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA337275561

rs_930325486

3 SubmittersRCV001300840 RCV002511074 RCV006269371

NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys)

SNV
Germline

ChrX:154354171

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560292

rs_782771039

2 SubmittersRCV001299610 RCV004789519

NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met)

SNV
Germline

ChrX:154354988

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560400

rs_781783107

2 SubmittersRCV001307499 RCV002543197

NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val)

SNV
Germline

ChrX:154361522

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560788

rs_782099443

3 SubmittersRCV001304176 RCV005562668 RCV006689045

NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)

SNV
Germline

ChrX:154362673

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided
9 conditions

Criteria Provided
Conflicting Classifications

CA10560947

rs_782454177

3 SubmittersRCV001309829 RCV002282513 RCV002476433

NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu)

SNV
Germline

ChrX:154364083

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560989

rs_782278974

2 SubmittersRCV001309625 RCV004590315

NM_001110556.2(FLNA):c.1692-3C>T

SNV
Germline

ChrX:154364960

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10561097

rs_781904011

3 SubmittersRCV001302080 RCV005841760 RCV005910974

NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly)

SNV
Germline

ChrX:154371227

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415255893

rs_941318584

2 SubmittersRCV001300917 RCV004036185

NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp)

SNV
Germline

ChrX:154350181

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559938

rs_368038166

4 SubmittersRCV001313086 RCV001773623 RCV005330679

NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)

SNV
Germline

ChrX:154351613

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559978

rs_371689052

3 SubmittersRCV001314256 RCV001773626 RCV005831846

NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His)

SNV
Germline

ChrX:154359550

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415219868

rs_1557177520

2 SubmittersRCV001320426 RCV001570613

NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)

SNV
Germline

ChrX:154366104

Conflicting classifications of pathogenicity

Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415243767

rs_1360400826

3 SubmittersRCV001331936 RCV002546520 RCV004822360

NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)

SNV
Germline

ChrX:154359825

Conflicting classifications of pathogenicity

Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415222104

rs_781816229

3 SubmittersRCV001336375 RCV001871884 RCV002368114

NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His)

SNV
Germline

ChrX:154349750

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559889

rs_782338659

4 SubmittersRCV001345760 RCV003120574 RCV005841785

NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu)

SNV
Germline

ChrX:154354896

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415207591

rs_1557176613

4 SubmittersRCV001347480 RCV001587367 RCV004528475 RCV004822367

NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=)

SNV
Germline

ChrX:154359397

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA519707529

rs_2067687057

3 SubmittersRCV001342636 RCV001673047 RCV003294352

NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser)

SNV
Germline

ChrX:154359855

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415222232

rs_2067691272

2 SubmittersRCV001349266 RCV004727176

NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)

SNV
Germline

ChrX:154360152

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10560679

rs_782482207

5 SubmittersRCV001350272 RCV002350656 RCV006266718 RCV006702558

NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)

SNV
Germline

ChrX:154362070

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560855

rs_782140888

2 SubmittersRCV001349995 RCV003145603

NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp)

SNV
Germline

ChrX:154364338

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415238867

rs_1360829798

3 SubmittersRCV001347901 RCV001536582 RCV002419026

NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)

SNV
Germline

ChrX:154366567

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
9 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415246974

rs_1489530369

4 SubmittersRCV001345513 RCV002412086 RCV002493774 RCV003159203

NM_001110556.2(FLNA):c.7108A>G (p.Ser2370Gly)

SNV
Germline

ChrX:154350957

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415184975

rs_1557175616

2 SubmittersRCV001359068 RCV006279629

NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)

SNV
Germline

ChrX:154354216

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560299

rs_781882457

3 SubmittersRCV001369194 RCV002350709 RCV004720876

NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro)

SNV
Germline

ChrX:154362269

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415233448

rs_377046577

3 SubmittersRCV001369416 RCV002438861 RCV004794534

NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)

SNV
Germline

ChrX:154362308

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
9 conditions
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415233586

rs_1557178198

4 SubmittersRCV001372973 RCV002493899 RCV004734155 RCV004822379

NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln)

SNV
Germline

ChrX:154365206

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561132

rs_743546

2 SubmittersRCV001369712 RCV005562729

NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)

SNV
Germline

ChrX:154365361

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337283284

rs_938952718

2 SubmittersRCV001358811 RCV003738053

NM_001110556.2(FLNA):c.1066-1G>A

SNV
Germline

ChrX:154366471

Pathogenic/Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415246879

rs_2148118126

2 SubmittersRCV001378079 RCV001780283

NM_001110556.2(FLNA):c.622+1G>A

SNV
Germline

ChrX:154367841

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415248963

rs_2148119316

1 SubmittersRCV001379671

NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)

SNV
Germline

ChrX:154361550

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA415231127

rs_1557178045

1 SubmittersRCV001389179

NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)

SNV
Germline

ChrX:154367887

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA415249180

rs_2148119354

1 SubmittersRCV001384742

NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met)

SNV
Germline

ChrX:154353385

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415197746

rs_1603359437

2 SubmittersRCV001419325 RCV003160679

NM_000552.5(VWF):c.2981G>T (p.Gly994Val)

SNV
Germline

Chr12:6026033

Conflicting classifications of pathogenicity

von Willebrand disease type 1
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA383515381

rs_1591867991

1 SubmittersRCV001420364 RCV004813172

NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly)

SNV
Germline

ChrX:154366412

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10561252

rs_782331362

5 SubmittersRCV001439853 RCV003145663 RCV005340926 RCV005408903

NM_001110556.2(FLNA):c.3957G>A (p.Val1319=)

SNV
Germline

ChrX:154359754

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA519707791

rs_2148111675

2 SubmittersRCV001471563 RCV003227035

NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys)

SNV
Germline

ChrX:154365140

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561119

rs_782477178

2 SubmittersRCV001496238 RCV002405170

NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met)

SNV
Germline

ChrX:154353650

Conflicting classifications of pathogenicity

Condition: not provided
FG syndrome 2
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560232

rs_371366175

7 SubmittersRCV001508978 RCV001843589 RCV001882561 RCV002469399 RCV005341015

NM_001110556.2(FLNA):c.1114G>T (p.Val372Leu)

SNV
Germline

ChrX:154366422

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
not specified

Criteria Provided
Conflicting Classifications

CA10561256

rs_781848457

4 SubmittersRCV001509133 RCV003771556 RCV005432737

NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)

SNV
Germline

ChrX:154361561

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560792

rs_782804253

2 SubmittersRCV001513731 RCV002261371

NM_001110556.2(FLNA):c.1836G>A (p.Ser612=)

SNV
Germline

ChrX:154364712

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA519709188

rs_1461515007

4 SubmittersRCV001548289 RCV002072018

NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)

SNV
Germline

ChrX:154353299

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560187

rs_200956777

3 SubmittersRCV001557645 RCV002032624 RCV002359171

NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser)

SNV
Germline

ChrX:154355061

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415208574

rs_1402204338

4 SubmittersRCV001557382 RCV002568370 RCV005341023

NM_001110556.2(FLNA):c.5753G>A (p.Gly1918Glu)

SNV
Germline

ChrX:154353661

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560233

rs_373862172

3 SubmittersRCV001561755 RCV002343738 RCV003771717

NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln)

SNV
Germline

ChrX:154367877

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA415249122

rs_1569551872

3 SubmittersRCV001560948 RCV001859392 RCV004528516

NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)

SNV
Germline

ChrX:154362462

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10560906

rs_782772998

4 SubmittersRCV001572051 RCV003323905 RCV002569056 RCV004734238

NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg)

SNV
Germline

ChrX:154366746

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561318

rs_782724892

2 SubmittersRCV001568864 RCV001866012

NM_001110556.2(FLNA):c.1854G>C (p.Gln618His)

SNV
Germline

ChrX:154364694

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561061

rs_782495413

2 SubmittersRCV001583509 RCV002570830

NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His)

SNV
Germline

ChrX:154354648

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415206399

rs_1293701269

3 SubmittersRCV001589592 RCV001866123 RCV006663336

NM_001110556.2(FLNA):c.2822A>G (p.Gln941Arg)

SNV
Germline

ChrX:154361983

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415232217

rs_2148113975

2 SubmittersRCV001583534 RCV005213545

NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)

SNV
Germline

ChrX:154354261

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
not specified

Criteria Provided
Conflicting Classifications

CA337276205

rs_12395634

3 SubmittersRCV001592602 RCV001866236 RCV003331190

NM_001110556.2(FLNA):c.374-3C>T

SNV
Germline

ChrX:154368093

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Clear cell carcinoma of kidney
not specified

Criteria Provided
Conflicting Classifications

CA10561415

rs_781994403

4 SubmittersRCV001666713 RCV002538585 RCV005921496 RCV006650926

NM_001110556.2(FLNA):c.3350A>G (p.Asn1117Ser)

SNV
Germline

ChrX:154360445

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415228353

rs_1209865046

3 SubmittersRCV001725844 RCV004040008 RCV005213560

NM_001110556.2(FLNA):c.1346C>A (p.Thr449Asn)

SNV
Germline

ChrX:154366107

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415243773

rs_1304244536

3 SubmittersRCV001754140 RCV002538728

NM_001110556.2(FLNA):c.1260C>G (p.Ile420Met)

SNV
Germline

ChrX:154366193

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415243960

rs_1351119633

2 SubmittersRCV001756328 RCV006557630

NM_001110556.2(FLNA):c.1885G>A (p.Gly629Ser)

SNV
Germline

ChrX:154364663

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415241830

rs_1431672096

3 SubmittersRCV001756505 RCV003771911 RCV006392060

NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn)

SNV
Germline

ChrX:154364675

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415241903

rs_1557178769

2 SubmittersRCV001757835 RCV002543941

NM_001110556.2(FLNA):c.1829-8G>A

SNV
Germline

ChrX:154364727

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10561065

rs_782287295

2 SubmittersRCV001763021 RCV003771920

NM_001110556.2(FLNA):c.2726T>C (p.Val909Ala)

SNV
Germline

ChrX:154362079

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415232905

rs_1557178152

2 SubmittersRCV001763522 RCV003771978

NM_001110556.2(FLNA):c.4390C>T (p.Arg1464Cys)

SNV
Germline

ChrX:154359068

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415216800

rs_1557177400

2 SubmittersRCV001770769 RCV001861101

NM_001110556.2(FLNA):c.5461A>G (p.Thr1821Ala)

SNV
Germline

ChrX:154354247

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10560308

rs_782241871

2 SubmittersRCV001763264 RCV005225473

NM_001110556.2(FLNA):c.3484A>C (p.Lys1162Gln)

SNV
Germline

ChrX:154360311

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10560700

rs_782793542

2 SubmittersRCV001772715 RCV005225470

NM_001110556.2(FLNA):c.4754C>T (p.Thr1585Met)

SNV
Germline

ChrX:154358200

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415214491

rs_2067677205

3 SubmittersRCV001768742 RCV002032833

NM_001110556.2(FLNA):c.7150G>A (p.Asp2384Asn)

SNV
Germline

ChrX:154350915

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Congenital heart disease

Criteria Provided
Conflicting Classifications

CA10559952

rs_782754461

3 SubmittersRCV001760652 RCV002540309 RCV005626477

NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser)

SNV
Germline

ChrX:154354630

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415206193

rs_1557176498

2 SubmittersRCV001756927 RCV003771996

NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn)

SNV
Germline

ChrX:154352865

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA10560125

rs_781962577

4 SubmittersRCV001752495 RCV003772012 RCV005564903 RCV006453743

NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile)

SNV
Germline

ChrX:154366165

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA415243901

rs_1557179208

2 SubmittersRCV001758357 RCV001868468

NM_001110556.2(FLNA):c.7379G>A (p.Gly2460Asp)

SNV
Germline

ChrX:154349822

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415182895

rs_1557175388

4 SubmittersRCV001763687 RCV002540464 RCV004734262 RCV006392075

NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)

SNV
Germline

ChrX:154353448

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10560208

rs_781962741

2 SubmittersRCV001774295 RCV002540470

NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys)

SNV
Germline

ChrX:154364594

Conflicting classifications of pathogenicity

Condition: not provided
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10561043

rs_782043699

5 SubmittersRCV001773174 RCV002544150

NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile)

SNV
Germline

ChrX:154366588

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10561293

rs_782234539

2 SubmittersRCV002246086 RCV003772164

NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)

SNV
Germline

ChrX:154360335

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415227335

rs_1557177750

2 SubmittersRCV001811778 RCV002541359

NM_001110556.2(FLNA):c.238C>G (p.Leu80Val)

SNV
Germline

ChrX:154371008

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415254838

rs_2148121932

1 SubmittersRCV001806363

NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe)

SNV
Germline

ChrX:154368046

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415250818

rs_2148119483

2 SubmittersRCV001808991 RCV002542437

NM_001110556.2(FLNA):c.1765G>A (p.Gly589Ser)

SNV
Germline

ChrX:154364884

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561085

rs_782371876

4 SubmittersRCV001820354 RCV001869716 RCV002397761 RCV006252792

NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)

SNV
Germline

ChrX:154351014

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415185240

rs_1557175653

2 SubmittersRCV001817644 RCV002542698

NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)

SNV
Germline

ChrX:154359026

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
FLNA-related disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337279283

rs_781855364

4 SubmittersRCV001870460 RCV004536377 RCV004793540 RCV005831988

NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)

SNV
Germline

ChrX:154364318

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561015

rs_782158357

2 SubmittersRCV002038742 RCV004044807

NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser)

SNV
Germline

ChrX:154364291

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561010

rs_781988346

2 SubmittersRCV001906214 RCV002422996

NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)

SNV
Germline

ChrX:154352833

Pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415193623

rs_2148104651

1 SubmittersRCV001892782

NM_001110556.2(FLNA):c.4834G>A (p.Val1612Met)

SNV
Germline

ChrX:154357545

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560457

rs_782082407

2 SubmittersRCV001864658 RCV003382671

NM_001110556.2(FLNA):c.2221G>A (p.Val741Met)

SNV
Germline

ChrX:154364081

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560987

rs_782439081

2 SubmittersRCV001953320 RCV005565046

NM_001110556.2(FLNA):c.2783A>G (p.His928Arg)

SNV
Germline

ChrX:154362022

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415232570

rs_1209463656

2 SubmittersRCV001899887 RCV006727391

NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)

SNV
Germline

ChrX:154350109

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559931

rs_782308324

2 SubmittersRCV001882924 RCV002370416

NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)

SNV
Germline

ChrX:154351893

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415186126

rs_2148103458

1 SubmittersRCV001950812

NM_001110556.2(FLNA):c.7023+1G>T

SNV
Germline

ChrX:154351580

Likely pathogenic

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA415185444

rs_2148102980

1 SubmittersRCV002010697

NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe)

SNV
Germline

ChrX:154371229

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561477

rs_782780394

2 SubmittersRCV001931371 RCV005232724

NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)

SNV
Germline

ChrX:154364641

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415241718

rs_2148116288

1 SubmittersRCV001972631

NM_001110556.2(FLNA):c.1963C>T (p.Arg655Cys)

SNV
Germline

ChrX:154364585

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561042

rs_376867823

3 SubmittersRCV001943702 RCV003167237

NM_001110556.2(FLNA):c.621G>A (p.Pro207=)

SNV
Germline

ChrX:154367843

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561401

rs_200632859

2 SubmittersRCV002022771 RCV005565112

NM_001110556.2(FLNA):c.5156A>G (p.Lys1719Arg)

SNV
Germline

ChrX:154354886

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560380

rs_782502175

3 SubmittersRCV001943618 RCV004785383 RCV006663759

NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)

SNV
Germline

ChrX:154360544

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
not specified

Criteria Provided
Conflicting Classifications

CA415229215

rs_1557177797

3 SubmittersRCV002324258 RCV001947187 RCV006453776

NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)

SNV
Germline

ChrX:154358329

Conflicting classifications of pathogenicity

9 conditions
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
not specified

Criteria Provided
Conflicting Classifications

CA10560493

rs_782281134

3 SubmittersRCV002498009 RCV002042590 RCV003120800

NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu)

SNV
Germline

ChrX:154371175

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415255698

rs_1350949025

4 SubmittersRCV001944429 RCV004042092 RCV005405779 RCV006434491

NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys)

SNV
Germline

ChrX:154359575

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560606

rs_782269355

3 SubmittersRCV002004218 RCV006280896

NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)

SNV
Germline

ChrX:154365143

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561121

rs_781806203

3 SubmittersRCV001933703 RCV002397930 RCV004793616

NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser)

SNV
Germline

ChrX:154350040

Conflicting classifications of pathogenicity

Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
See cases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10559924

rs_782189345

3 SubmittersRCV001895675 RCV002252716 RCV004809688

NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val)

SNV
Germline

ChrX:154360040

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 1

Criteria Provided
Conflicting Classifications

CA10560666

rs_782538253

2 SubmittersRCV001986854 RCV004796701

NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly)

SNV
Germline

ChrX:154366356

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561243

rs_371936356

2 SubmittersRCV001967180 RCV004762259

NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)

SNV
Germline

ChrX:154348959

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Cardiac valvular dysplasia, X-linked
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10559820

rs_781864075

3 SubmittersRCV002031730 RCV002266096 RCV004538751

NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile)

SNV
Germline

ChrX:154364330

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10561018

rs_782116160

3 SubmittersRCV002045835 RCV006727546 RCV005642687

NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp)

SNV
Germline

ChrX:154359557

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560604

rs_373073505

4 SubmittersRCV001889918 RCV003226500 RCV004779166 RCV006392153

NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)

SNV
Germline

ChrX:154360553

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560741

rs_782561908

2 SubmittersRCV002019406 RCV002324466

NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)

SNV
Germline

ChrX:154364890

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415242540

rs_1447594194

1 SubmittersRCV001950162

NM_001110556.2(FLNA):c.4506C>G (p.Asn1502Lys)

SNV
Germline

ChrX:154358537

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415215823

rs_200857989

2 SubmittersRCV001885997 RCV004041075

NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp)

SNV
Germline

ChrX:154354672

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560347

rs_782147650

2 SubmittersRCV002018609 RCV002346299

NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu)

SNV
Germline

ChrX:154361342

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560762

rs_782614645

2 SubmittersRCV001946325 RCV006280830

NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp)

SNV
Germline

ChrX:154350042

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415183663

rs_1281469151

3 SubmittersRCV001962353 RCV005416589 RCV006727464

NM_001110556.2(FLNA):c.2570C>T (p.Thr857Met)

SNV
Germline

ChrX:154362328

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415235462

rs_1488268931

2 SubmittersRCV002023815 RCV005343273

NM_001110556.2(FLNA):c.7333+1G>C

SNV
Germline

ChrX:154350030

Likely pathogenic

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

CA415183223

rs_1557175424

1 SubmittersRCV002045185

NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)

SNV
Germline

ChrX:154362143

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10560858

rs_782580568

3 SubmittersRCV001886189 RCV004041178 RCV004728889

NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)

SNV
Germline

ChrX:154351689

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Thrombocytopenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10559988

rs_781910090

3 SubmittersRCV002109062 RCV003313794 RCV003738149

NM_001110556.2(FLNA):c.2405-5C>T

SNV
Germline

ChrX:154362583

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560930

rs_781892155

3 SubmittersRCV002213977 RCV003146520 RCV002454583

NM_001110556.2(FLNA):c.1111G>A (p.Glu371Lys)

SNV
Germline

ChrX:154366425

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA415246627

rs_1557179279

2 SubmittersRCV002244569 RCV003093953

NM_001110556.2(FLNA):c.2137-1G>A

SNV
Germline

ChrX:154364166

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415238277

rs_2148115834

1 SubmittersRCV002251116

NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp)

SNV
Germline

ChrX:154364116

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10560992

rs_782330533

2 SubmittersRCV002261667 RCV003095887

NM_001110556.2(FLNA):c.5849C>T (p.Ala1950Val)

SNV
Germline

ChrX:154353565

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415198792

rs_2067639202

4 SubmittersRCV002281300 RCV003101609 RCV004047558

NM_001110556.2(FLNA):c.6298G>A (p.Gly2100Arg)

SNV
Germline

ChrX:154352853

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560121

rs_781785034

3 SubmittersRCV002308789 RCV006558913 RCV006396978

NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr)

SNV
Germline

ChrX:154359402

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10560581

rs_781821894

2 SubmittersRCV002333188 RCV003094547

NM_001110556.2(FLNA):c.4525G>T (p.Val1509Phe)

SNV
Germline

ChrX:154358518

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10560513

rs_782018054

2 SubmittersRCV002340018 RCV005213678

NM_001110556.2(FLNA):c.2171A>G (p.Lys724Arg)

SNV
Germline

ChrX:154364131

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10560995

rs_782024317

2 SubmittersRCV002432741 RCV003098686

NM_001110556.2(FLNA):c.2800A>G (p.Thr934Ala)

SNV
Germline

ChrX:154362005

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA415232396

rs_1557178130

2 SubmittersRCV002464944 RCV002571379

NM_001110556.2(FLNA):c.1384G>A (p.Gly462Ser)

SNV
Germline

ChrX:154366069

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA10561195

rs_782063907

2 SubmittersRCV002474246 RCV006559480

NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)

SNV
Germline

ChrX:154366417

Pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415246578

rs_782121971

2 SubmittersRCV002571581 RCV002510211

NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)

SNV
Germline

ChrX:154364929

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561091

rs_782782483

2 SubmittersRCV003065084 RCV004070368

NM_001110556.2(FLNA):c.1764C>T (p.Gly588=)

SNV
Germline

ChrX:154364885

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561086

rs_781963604

2 SubmittersRCV003085646 RCV006660430

NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)

SNV
Germline

ChrX:154365226

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10561140

rs_781850599

3 SubmittersRCV003077672 RCV003108147 RCV005930414 RCV005930415

NM_001110556.2(FLNA):c.1411A>G (p.Thr471Ala)

SNV
Germline

ChrX:154366042

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
not specified

Criteria Provided
Conflicting Classifications

CA10561188

rs_782588986

2 SubmittersRCV003075779 RCV005433315

NM_001110556.2(FLNA):c.1978A>G (p.Met660Val)

SNV
Germline

ChrX:154364570

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561039

rs_782510387

2 SubmittersRCV003092913 RCV006728847

NM_001110556.2(FLNA):c.4455C>T (p.Val1485=)

SNV
Germline

ChrX:154359003

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA519276758

rs_2067683151

2 SubmittersRCV002615928 RCV003143513

NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)

SNV
Germline

ChrX:154366207

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561218

rs_782788214

2 SubmittersRCV002591828 RCV004068871

NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)

SNV
Germline

ChrX:154351919

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560019

rs_782504409

2 SubmittersRCV002625122 RCV003143526

NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)

SNV
Germline

ChrX:154353193

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415196666

rs_1226982948

2 SubmittersRCV003112366 RCV005335731

NM_001110556.2(FLNA):c.4112A>C (p.Asn1371Thr)

SNV
Germline

ChrX:154359514

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
FLNA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10560597

rs_782079908

3 SubmittersRCV002587336 RCV004529154 RCV005239458

NM_001110556.2(FLNA):c.5854G>A (p.Val1952Ile)

SNV
Germline

ChrX:154353560

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415198772

rs_1557176236

2 SubmittersRCV002593553 RCV006727692

NM_001110556.2(FLNA):c.388G>A (p.Val130Met)

SNV
Germline

ChrX:154368076

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10561413

rs_782151307

3 SubmittersRCV002685459 RCV003443067 RCV006559526

NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)

SNV
Germline

ChrX:154362313

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560882

rs_782396558

2 SubmittersRCV002671470 RCV003128870

NM_001110556.2(FLNA):c.868+1G>A

SNV
Germline

ChrX:154367396

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA415248251

rs_2522763814

3 SubmittersRCV002745608 RCV003146613 RCV005433256

NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)

SNV
Germline

ChrX:154359746

Conflicting classifications of pathogenicity

Cardiac valvular dysplasia, X-linked
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10560631

rs_782382389

2 SubmittersRCV002814367 RCV003777005

NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)

SNV
Germline

ChrX:154359017

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560532

rs_782170730

2 SubmittersRCV002895273 RCV006728730

NM_001110556.2(FLNA):c.4598+1G>A

SNV
Germline

ChrX:154358444

Pathogenic/Likely pathogenic

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
9 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA415215192

rs_2522735557

2 SubmittersRCV002889880 RCV006605386

NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)

SNV
Germline

ChrX:154366138

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337283519

rs_963606772

2 SubmittersRCV002975921 RCV006660234

NM_001110556.2(FLNA):c.2233G>A (p.Ala745Thr)

SNV
Germline

ChrX:154364069

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415237741

rs_1336740117

2 SubmittersRCV002943483 RCV006728753

NM_001110556.2(FLNA):c.2405-1G>C

SNV
Germline

ChrX:154362579

Likely pathogenic

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415237051

rs_2522749173

1 SubmittersRCV002962362

NM_001110556.2(FLNA):c.1598T>C (p.Leu533Pro)

SNV
Germline

ChrX:154365229

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415243217

rs_1196767195

2 SubmittersRCV002982407 RCV006660237

NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)

SNV
Germline

ChrX:154366609

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA10561297

rs_782072827

2 SubmittersRCV004065226 RCV002982933

NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)

SNV
Germline

ChrX:154370936

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
X-linked FLNA-related disorders

Criteria Provided
Conflicting Classifications

CA415254436

rs_2522771333

3 SubmittersRCV002994966 RCV003146721 RCV006560286

NM_001110556.2(FLNA):c.5150C>T (p.Pro1717Leu)

SNV
Germline

ChrX:154354892

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415207548

rs_1557176607

3 SubmittersRCV002999899 RCV003327581 RCV006728777

NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)

SNV
Germline

ChrX:154371124

Pathogenic/Likely pathogenic

Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415255476

rs_2522771792

2 SubmittersRCV003027422 RCV003138453

NM_001110556.2(FLNA):c.3086G>A (p.Ser1029Asn)

SNV
Germline

ChrX:154361429

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415230499

rs_2067710654

2 SubmittersRCV003040027 RCV005834386

NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)

SNV
Germline

ChrX:154370966

Likely pathogenic

Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415254593

rs_2522771411

1 SubmittersRCV003040916

NM_001110556.2(FLNA):c.6436C>T (p.Arg2146Cys)

SNV
Germline

ChrX:154352619

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA337274701

rs_200832880

2 SubmittersRCV003144007 RCV005227909

NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)

SNV
Germline

ChrX:154352379

Conflicting classifications of pathogenicity

Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10560066

rs_782299541

2 SubmittersRCV003144010 RCV003778874

NM_001110556.2(FLNA):c.6085C>T (p.His2029Tyr)

SNV
Germline

ChrX:154353142

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10560166

rs_782292372

3 SubmittersRCV003171613 RCV005216000 RCV005927126

NM_001110556.2(FLNA):c.827G>A (p.Arg276Gln)

SNV
Germline

ChrX:154367438

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10561355

rs_184188371

3 SubmittersRCV003171199 RCV003235788 RCV003778991

NM_001110556.2(FLNA):c.3544C>T (p.Gln1182Ter)

SNV
Germline

ChrX:154360251

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415224550

rs_2522741003

1 SubmittersRCV003223383

NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)

SNV
Germline

ChrX:154354391

Conflicting classifications of pathogenicity

9 conditions
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Nonpapillary renal cell carcinoma
not specified
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10560331

rs_782099907

4 SubmittersRCV003224680 RCV003779801 RCV005930777 RCV005240728 RCV005930778

NM_001110556.2(FLNA):c.6411G>A (p.Glu2137=)

SNV
Germline

ChrX:154352644

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA519706546

rs_2522721656

2 SubmittersRCV003310820 RCV005216034

NM_001110556.2(FLNA):c.3847C>T (p.Arg1283Trp)

SNV
Germline

ChrX:154359864

Conflicting classifications of pathogenicity

Condition: not provided
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415222258

rs_1231515435

2 SubmittersRCV003329611 RCV003777379

NM_001110556.2(FLNA):c.1130C>G (p.Ser377Ter)

SNV
Germline

ChrX:154366406

Likely pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415244571

rs_2522761063

1 SubmittersRCV003337810

NM_001110556.2(FLNA):c.2941G>T (p.Glu981Ter)

SNV
Germline

ChrX:154361673

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415231305

rs_2522745674

1 SubmittersRCV003389028

NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys)

SNV
Germline

ChrX:154364648

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
not specified
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10561054

rs_111516546

3 SubmittersRCV003778238 RCV004783058 RCV004528049

NM_001110556.2(FLNA):c.1664C>A (p.Thr555Lys)

SNV
Germline

ChrX:154365163

Conflicting classifications of pathogenicity

FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10561126

rs_782611953

3 SubmittersRCV004529760 RCV004823149 RCV005228025

NM_001110556.2(FLNA):c.123G>A (p.Trp41Ter)

SNV
Germline

ChrX:154371123

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

CA415255471

rs_2522771786

1 SubmittersRCV003639372

NM_001110556.2(FLNA):c.374-2A>G

SNV
Germline

ChrX:154368092

Likely pathogenic

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA415251240

rs_2522765595

2 SubmittersRCV003783797 RCV005934890

NM_001110556.2(FLNA):c.5417-2A>G

SNV
Germline

ChrX:154354293

Likely pathogenic

Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415204821

rs_2522726645

2 SubmittersRCV003783008 RCV006264139

NM_001110556.2(FLNA):c.3256G>T (p.Ala1086Ser)

SNV
Germline

ChrX:154360539

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10560738

rs_782632029

2 SubmittersRCV003789912 RCV004697315

NM_001110556.2(FLNA):c.1692-13C>G

SNV
Germline

ChrX:154364970

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2466657873

rs_2067745159

2 SubmittersRCV003796481 RCV005063168

NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)

SNV
Germline

ChrX:154349482

Pathogenic

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA415180377

rs_2522713003

2 SubmittersRCV003807755 RCV004823229

NM_001110556.2(FLNA):c.6613G>A (p.Ala2205Thr)

SNV
Germline

ChrX:154352337

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560056

rs_781935515

3 SubmittersRCV003806742 RCV004801405 RCV006667613

NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)

SNV
Germline

ChrX:154366443

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome
FLNA-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561262

rs_376891541

3 SubmittersRCV003806912 RCV004542278 RCV005567651

NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)

SNV
Germline

ChrX:154348863

Likely pathogenic

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA415176819

rs_1557175101

1 SubmittersRCV003805584

NM_001110556.2(FLNA):c.7756+2T>A

SNV
Germline

ChrX:154349360

Pathogenic

Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Single Submitter

CA337272653

rs_111243479

1 SubmittersRCV003803469

NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)

SNV
Germline

ChrX:154354882

Pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415207461

rs_782152127

1 SubmittersRCV003801983

NM_001110556.2(FLNA):c.3805+1G>A

SNV
Germline

ChrX:154359989

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415222471

rs_2522740258

1 SubmittersRCV003815728

NM_001110556.2(FLNA):c.3805+2T>C

SNV
Germline

ChrX:154359988

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415222464

rs_2522740256

1 SubmittersRCV003815440

NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)

SNV
Germline

ChrX:154353604

Pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

CA415199218

rs_2522724685

1 SubmittersRCV003815636

NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)

SNV
Germline

ChrX:154358996

Conflicting classifications of pathogenicity

Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415216189

rs_1285230988

2 SubmittersRCV003813267 RCV006729096

NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)

SNV
Germline

ChrX:154366817

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10561330

rs_371600068

3 SubmittersRCV003805251 RCV004697318 RCV005836586

NM_001110556.2(FLNA):c.3715C>T (p.Pro1239Ser)

SNV
Germline

ChrX:154360080

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004760076 RCV005218285

NM_001110556.2(FLNA):c.7430A>G (p.Gln2477Arg)

SNV
Germline

ChrX:154349771

Conflicting classifications of pathogenicity

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004773937 RCV006565302

NM_001110556.2(FLNA):c.5245C>T (p.Gln1749Ter)

SNV
Germline

ChrX:154354684

Pathogenic/Likely pathogenic

Condition: not provided
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791101 RCV005221081

NM_001110556.2(FLNA):c.2075C>T (p.Pro692Leu)

SNV
Germline

ChrX:154364320

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004823507 RCV006565674

NM_001110556.2(FLNA):c.2134C>T (p.Gln712Ter)

SNV
Unknown

ChrX:154364261

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005001955

NM_001110556.2(FLNA):c.2022+1G>A

SNV
Germline

ChrX:154364525

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005223757 RCV005416799

NM_001110556.2(FLNA):c.6227-1G>A

SNV
Germline

ChrX:154352925

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005223770

NM_001110556.2(FLNA):c.2626A>T (p.Lys876Ter)

SNV
Germline

ChrX:154362272

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005223775

NM_001110556.2(FLNA):c.5557+2T>G

SNV
Germline

ChrX:154354149

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005223898

NM_001110556.2(FLNA):c.6923C>A (p.Ser2308Ter)

SNV
Germline

ChrX:154351681

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005212850

NM_001110556.2(FLNA):c.1699G>T (p.Glu567Ter)

SNV
Germline

ChrX:154364950

Pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005220479

NM_001110556.2(FLNA):c.4475-2A>G

SNV
Germline

ChrX:154358570

Likely pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005226144

NM_001110556.2(FLNA):c.2944+2T>A

SNV
Germline

ChrX:154361668

Likely pathogenic

Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005226251

NM_001110556.2(FLNA):c.6476A>C (p.His2159Pro)

SNV
Germline

ChrX:154352579

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005241841 RCV006660957 RCV006567151

NM_001110556.2(FLNA):c.1168G>A (p.Gly390Ser)

SNV
Germline

ChrX:154366368

Conflicting classifications of pathogenicity

not specified
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005418923 RCV006567534

NM_001110556.2(FLNA):c.7171C>T (p.Arg2391Cys)

SNV
Germline

ChrX:154350193

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005569205 RCV006568272

NM_001110556.2(FLNA):c.3806-2A>G

SNV
Germline

ChrX:154359907

Likely pathogenic

Thyroid cancer, nonmedullary, 1
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

2 SubmittersRCV006192051 RCV006569308

NM_001110556.2(FLNA):c.1621G>T (p.Glu541Ter)

SNV
Germline

ChrX:154365206

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

1 SubmittersRCV006258392

NM_001110556.2(FLNA):c.5146C>T (p.Gln1716Ter)

SNV
Germline

ChrX:154354896

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006590854

NM_001110556.2(FLNA):c.1065+1G>A

SNV
Germline

ChrX:154366561

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006599541

NM_001110556.2(FLNA):c.4993C>T (p.Gln1665Ter)

SNV
Germline

ChrX:154355049

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006598767

NM_001110556.2(FLNA):c.6908-2A>T

SNV
Germline

ChrX:154351698

Pathogenic

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006595399

NM_001110556.2(FLNA):c.5852G>A (p.Arg1951Gln)

SNV
Germline

ChrX:154353562

Conflicting classifications of pathogenicity

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006601062 RCV006664770

NM_001110556.2(FLNA):c.84G>A (p.Met28Ile)

SNV
Germline

ChrX:154371162

Likely pathogenic

Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006597441

NM_001110556.2(FLNA):c.2728C>T (p.Gln910Ter)

SNV
Germline

ChrX:154362077

Pathogenic

Heterotopia, periventricular, X-linked dominant

Criteria Provided
Single Submitter

1 SubmittersRCV006605164