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.1966C>T (p.Leu656Phe)	SNV Germline	ChrX:154364582	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Condition: not provided Neurodevelopmental delay Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA256053	rs_137853311	4 SubmittersRCV000012518 RCV001753412 RCV002273924 RCV001857335
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)	SNV Germline	ChrX:154371001	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant	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 Short stature Cleft palate Conductive hearing impairment not specified Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA256056	rs_28935469	8 SubmittersRCV000012521 RCV000415125 RCV001000894 RCV002509151 RCV003764562 RCV004545725 RCV002354156
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)	SNV Germline	ChrX:154367505	Pathogenic	Oto-palato-digital syndrome, type II Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA221728	rs_28935470	5 SubmittersRCV000012522 RCV000178843 RCV001851804
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	Criteria Provided Multiple Submitters No Conflicts	CA341132	rs_28935473	5 SubmittersRCV000012525 RCV001382364
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	SNV Germline	ChrX:154360238	Pathogenic/Likely pathogenic	Frontometaphyseal dysplasia 1 Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Multiple Submitters No Conflicts	CA256058	rs_137853312	5 SubmittersRCV000012527 RCV000414151 RCV002228026 RCV002051782
NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr)	SNV Germline	ChrX:154367857	Pathogenic	Oto-palato-digital syndrome, type I	No Assertion Criteria Provided	CA256060	rs_137853314	1 SubmittersRCV000012532
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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Condition: not provided FLNA-related periventricular nodular heterotopia	Criteria Provided Conflicting Classifications	CA256062	rs_80338841	6 SubmittersRCV000012536 RCV000020423 RCV001348560 RCV001753413 RCV001563663
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)	SNV Germline	ChrX:154367878	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Oto-palato-digital syndrome, type I Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA234009	rs_137853317	5 SubmittersRCV000012539 RCV000012538 RCV000153245 RCV000560177
NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe)	SNV Germline	ChrX:154367732	Pathogenic	Oto-palato-digital syndrome, type II	No Assertion Criteria Provided	CA256064	rs_137853318	1 SubmittersRCV000012540
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)	SNV Germline	ChrX:154354825	Pathogenic	Terminal osseous dysplasia-pigmentary defects syndrome 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 Multiple Submitters No Conflicts	CA341134	rs_387907371	5 SubmittersRCV000012542 RCV001292939 RCV001091828 RCV001205323
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 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	CA274722	rs_202181557	11 SubmittersRCV000079687 RCV000170402 RCV000231754 RCV002390234 RCV001573339
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)	SNV Germline	ChrX:154371009	Conflicting classifications of pathogenicity	Condition: not provided 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 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA221699	rs_200626788	10 SubmittersRCV000079688 RCV000259078 RCV001089423 RCV004019541 RCV000659650
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)	SNV Germline	ChrX:154362044	Pathogenic/Likely pathogenic	Condition: not provided Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Ventral hernia Global developmental delay Abnormality of the face Patent ductus arteriosus	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 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	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 Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome not specified	Criteria Provided Conflicting Classifications	CA221709	rs_371677498	5 SubmittersRCV000079693 RCV000764863 RCV001854407 RCV001001353
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)	SNV Germline	ChrX:154360416	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 Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA221712	rs_398123617	8 SubmittersRCV000514621 RCV001089189 RCV000196824 RCV002453400 RCV004542758
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)	SNV Germline	ChrX:154359286	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA221715	rs_398123618	5 SubmittersRCV000079696 RCV002326796 RCV000680538 RCV002228211
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)	SNV Germline	ChrX:154358500	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	CA221720	rs_186214592	3 SubmittersRCV000176728 RCV003764758
NM_001110556.2(FLNA):c.6227-7C>T	SNV Germline	ChrX:154352931	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	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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	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 Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA231094	rs_200278701	8 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 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 See cases	Criteria Provided Conflicting Classifications	CA231097	rs_202029322	14 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 Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA231100	rs_587780335	4 SubmittersRCV000117043 RCV001087153
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)	SNV Germline	ChrX:154361470	Conflicting classifications of pathogenicity	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 FLNA-related disorder	Criteria Provided Conflicting Classifications	CA231101	rs_370868704	8 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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA231110	rs_199565118	8 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 Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA231111	rs_371501734	6 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 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	CA231114	rs_199911951	7 SubmittersRCV000117053 RCV000200324 RCV001085804 RCV004019633 RCV004542840
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)	SNV Germline	ChrX:154350192	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	CA234011	rs_727503930	6 SubmittersRCV000234036 RCV000723787 RCV002312990
NM_001110556.2(FLNA):c.6291G>A (p.Leu2097=)	SNV Germline	ChrX:154352860	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II 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.4451A>G (p.Gln1484Arg)	SNV Germline	ChrX:154359007	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant not specified Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Connective tissue disorder Aortic dilatation Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Thrombocytopenia	Criteria Provided Conflicting Classifications	CA274737	rs_200130356	18 SubmittersRCV000170415 RCV000193523 RCV000475968 RCV000659667 RCV000582185 RCV001579665 RCV004020018 RCV003313943
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 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	CA274734	rs_377390031	5 SubmittersRCV000170413 RCV000640771 RCV001442515 RCV002321679
NM_001110556.2(FLNA):c.2023-6C>T	SNV Germline	ChrX:154364378	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia 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 Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA274726	rs_782193139	3 SubmittersRCV000170405 RCV001657940 RCV002228616
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)	SNV Germline	ChrX:154364837	Conflicting classifications of pathogenicity	not specified 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	CA239820	rs_370735674	6 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 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	CA211149	rs_200660642	12 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 Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Disorder of sexual differentiation Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA240862	rs_200053635	14 SubmittersRCV000198787 RCV000416150 RCV000509326 RCV000680542 RCV001087877 RCV001568328 RCV002313039
NM_001110556.2(FLNA):c.2826+7A>G	SNV Germline	ChrX:154361972	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia 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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia 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 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	CA242190	rs_199530601	5 SubmittersRCV000176286 RCV000724187 RCV001082209 RCV002317022
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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA202041	rs_782129236	5 SubmittersRCV000176638 RCV000556510 RCV001589054 RCV002326964
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)	SNV Germline	ChrX:154352643	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	CA244988	rs_200524526	9 SubmittersRCV000724209 RCV001087795 RCV002314640
NM_001110556.2(FLNA):c.623-7G>A	SNV Germline	ChrX:154367745	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	Criteria Provided Conflicting Classifications	CA245194	rs_782670288	3 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 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	CA245558	rs_797044739	5 SubmittersRCV000178456 RCV001252501 RCV002228788 RCV002362915
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys)	SNV Germline	ChrX:154351607	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	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 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	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 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	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 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	CA245806	rs_782372740	3 SubmittersRCV000178622 RCV002516777 RCV002408772
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)	SNV Germline	ChrX:154367532	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA246036	rs_797044753	2 SubmittersRCV000178845 RCV001312936
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)	SNV Germline	ChrX:154366818	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided 9 conditions Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA246631	rs_192609440	8 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 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	CA211152	rs_199853721	12 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 Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia not specified	Criteria Provided Conflicting Classifications	CA210133	rs_369717556	8 SubmittersRCV000201336 RCV001553477 RCV000866800 RCV003987436
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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250342	rs_797045044	3 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 Condition: not provided 9 conditions	Criteria Provided Conflicting Classifications	CA209144	rs_797045579	4 SubmittersRCV000194760 RCV002229019 RCV003736630 RCV003224214
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)	SNV Germline	ChrX:154360078	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	CA207260	rs_372265042	7 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 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	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	Criteria Provided Conflicting Classifications	CA208837	rs_782571710	2 SubmittersRCV000194585 RCV001450134
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	Criteria Provided Conflicting Classifications	CA208448	rs_782791907	5 SubmittersRCV000194338 RCV001731512 RCV002229018 RCV003237759
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	5 SubmittersRCV000193102 RCV001041470 RCV001566737 RCV002314817
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)	SNV Germline	ChrX:154371180	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	CA208737	rs_782358007	5 SubmittersRCV000194522 RCV001697271 RCV001520948 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	Criteria Provided Conflicting Classifications	CA322167	rs_200836471	3 SubmittersRCV000197706 RCV002229481
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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications		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 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	CA319805	rs_782557713	8 SubmittersRCV000640791 RCV001086641 RCV002315602 RCV004530161
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)	SNV Germline	ChrX:154350930	Conflicting classifications of pathogenicity	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		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 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	CA323932	rs_782739586	6 SubmittersRCV000756178 RCV001511862 RCV004020370 RCV004530160
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)	SNV Germline	ChrX:154352837	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	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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA324507	rs_781920955	2 SubmittersRCV000199955 RCV003765248
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile)	SNV Germline	ChrX:154354014	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	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	5 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 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	CA320471	rs_56102764	15 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 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	CA321659	rs_782774182	3 SubmittersRCV000197214 RCV001089123 RCV003298256
NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val)	SNV Germline	ChrX:154360389	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA320587	rs_782395522	2 SubmittersRCV000196168 RCV001853151
NM_001110556.2(FLNA):c.3259C>T (p.Arg1087Cys)	SNV Germline	ChrX:154360536	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA325093	rs_782518956	2 SubmittersRCV000200512 RCV001396171
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)	SNV Germline	ChrX:154361689	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	Criteria Provided Conflicting Classifications	CA321868	rs_375495397	4 SubmittersRCV001312410 RCV001705114 RCV002433879
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser)	SNV Germline	ChrX:154361771	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 FLNA-related disorder	Criteria Provided Conflicting Classifications	CA323149	rs_372718245	4 SubmittersRCV000198619 RCV000867960 RCV002433878 RCV004541255
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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	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 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	CA322615	rs_782551055	3 SubmittersRCV000198128 RCV000640796 RCV003298255
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val)	SNV Germline	ChrX:154364140	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	CA324365	rs_781840723	4 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	6 SubmittersRCV000844958 RCV001711508 RCV001818466 RCV001853153 RCV002317718
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)	SNV Germline	ChrX:154364878	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Microcephaly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA323733	rs_782776511	4 SubmittersRCV000199201 RCV001499994 RCV001836752
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)	SNV Germline	ChrX:154365206	Conflicting classifications of pathogenicity	Condition: not provided Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 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	CA325389	rs_743546	6 SubmittersRCV000200807 RCV001804931 RCV002228873 RCV002315603 RCV004530162
NM_001110556.2(FLNA):c.1616G>A (p.Gly539Asp)	SNV Germline	ChrX:154365211	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA324424	rs_863223618	3 SubmittersRCV000199879 RCV001853152
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 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	CA324608	rs_200048692	11 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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA322045	rs_782447567	3 SubmittersRCV000197586 RCV000764866 RCV001350783
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 Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA321035	rs_863223641	3 SubmittersRCV000196613 RCV003765250
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)	SNV Germline	ChrX:154350109	Pathogenic	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	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 Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561173	rs_782168634	6 SubmittersRCV000224666 RCV000640774 RCV002311065 RCV004532826
NM_001110556.2(FLNA):c.2405-4G>A	SNV Germline	ChrX:154362582	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	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 Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia 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	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	CA10559825	rs_782593788	2 SubmittersRCV001296877 RCV002311136
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala)	SNV Germline	ChrX:154349514	Conflicting classifications of pathogenicity	Cardiovascular phenotype Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	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	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II 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	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	CA10561292	rs_782643025	2 SubmittersRCV001859466 RCV002311167
NM_001110556.2(FLNA):c.76G>C (p.Ala26Pro)	SNV Germline	ChrX:154371170	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	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 Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10560164	rs_782221205	3 SubmittersRCV000276407 RCV003765587
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)	SNV Germline	ChrX:154354260	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 FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10560311	rs_782806731	4 SubmittersRCV000387082 RCV004021087 RCV001407250 RCV004542992
NM_001110556.2(FLNA):c.627G>A (p.Leu209=)	SNV Germline	ChrX:154367734	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	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 Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10604151	rs_886044791	2 SubmittersRCV000306175 RCV001435833
NM_001110556.2(FLNA):c.6770-5C>T	SNV Germline	ChrX:154352026	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	CA10560032	rs_370913359	3 SubmittersRCV000277797 RCV002519125
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)	SNV Germline	ChrX:154351987	Conflicting classifications of pathogenicity	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	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 Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	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 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	CA10560723	rs_368441729	3 SubmittersRCV000304105 RCV003765619 RCV004021160
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)	SNV Germline	ChrX:154353180	Conflicting classifications of pathogenicity	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	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 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	CA10559899	rs_369179210	4 SubmittersRCV000316860 RCV002314022 RCV001469721
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)	SNV Germline	ChrX:154366627	Conflicting classifications of pathogenicity	not specified Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10605588	rs_886044859	5 SubmittersRCV000361495 RCV000725907 RCV001067290
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=)	SNV Germline	ChrX:154366426	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	CA10605751	rs_886044869	2 SubmittersRCV000288584 RCV002521972
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)	SNV Germline	ChrX:154353052	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 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	6 SubmittersRCV000357488 RCV000690045 RCV000726216 RCV002356391
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)	SNV Germline	ChrX:154366211	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	CA10561221	rs_782598234	4 SubmittersRCV000293162 RCV002059257
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 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	CA10560351	rs_370196495	5 SubmittersRCV000726349 RCV001086540 RCV002338858
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	SNV Germline	ChrX:154349490	Conflicting classifications of pathogenicity	not specified Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II 9 conditions Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559860		8 SubmittersRCV000435841 RCV000559847 RCV000760220 RCV000762685 RCV002393056
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)	SNV Germline	ChrX:154349812	Conflicting classifications of pathogenicity	not specified 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	CA10559894	rs_373103712	4 SubmittersRCV000444645 RCV002379331 RCV002230253
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)	SNV Germline	ChrX:154362511	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	CA10560917	rs_782669943	4 SubmittersRCV000727012 RCV001079050 RCV002446650
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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560948	rs_201073998	3 SubmittersRCV000426387 RCV000547200 RCV002450976
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)	SNV Germline	ChrX:154371181	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	CA10561466	rs_782598729	5 SubmittersRCV000513921 RCV000539831 RCV002374716
NM_001110556.2(FLNA):c.4918G>A (p.Gly1640Arg)	SNV Germline	ChrX:154357461	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	CA16608774	rs_1057524434	2 SubmittersRCV000418133 RCV002522679
NM_001110556.2(FLNA):c.4475-4C>T	SNV Germline	ChrX:154358572	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	Criteria Provided Conflicting Classifications	CA16608802	rs_199652065	4 SubmittersRCV000557838 RCV000992000 RCV002313145
NM_001110556.2(FLNA):c.3207+5T>C	SNV Germline	ChrX:154361303	Conflicting classifications of pathogenicity	not specified Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant 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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA16609149	rs_1057520770	2 SubmittersRCV000427375 RCV001851053
NM_001110556.2(FLNA):c.2608C>T (p.His870Tyr)	SNV Germline	ChrX:154362290	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA16609151	rs_1057524473	2 SubmittersRCV000424847 RCV003766455
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)	SNV Germline	ChrX:154366751	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	CA10561322	rs_371830740	4 SubmittersRCV000419413 RCV001214184 RCV002374687
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser)	SNV Germline	ChrX:154353704	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	Criteria Provided Conflicting Classifications	CA10560238	rs_782549964	6 SubmittersRCV000502032 RCV000786134 RCV002230759
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)	SNV Germline	ChrX:154354010	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection See cases	Criteria Provided Conflicting Classifications	CA10560273	rs_782095418	3 SubmittersRCV000476019 RCV002348277 RCV004584385
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)	SNV Germline	ChrX:154360127	Pathogenic	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant 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	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	CA10560912	rs_781846227	3 SubmittersRCV000459346 RCV002307501 RCV002318517
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)	SNV Germline	ChrX:154352226	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	CA16616627	rs_1060500717	2 SubmittersRCV000728731 RCV001387919
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)	SNV Germline	ChrX:154360272	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	Criteria Provided Conflicting Classifications	CA10560695	rs_370202395	3 SubmittersRCV000513123 RCV002230319 RCV003488602
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)	SNV Germline	ChrX:154364551	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided Hepatoblastoma Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561034	rs_374295965	5 SubmittersRCV000462684 RCV000996069 RCV001843519 RCV002418357
NM_001110556.2(FLNA):c.6503-2A>C	SNV Germline	ChrX:154352449	Likely pathogenic	Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant 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 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	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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant 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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant 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 not specified 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	CA10561041	rs_782563602	8 SubmittersRCV000728595 RCV001821400 RCV002313254 RCV002230953
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 Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560710	rs_782318545	2 SubmittersRCV000489979 RCV002526013
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys)	SNV Germline	ChrX:154364684	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	CA415241965	rs_1131691935	3 SubmittersRCV000494059 RCV001865554
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)	SNV Germline	ChrX:154360020	Pathogenic	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Multiple Submitters No Conflicts	CA415222631	rs_1557177663	2 SubmittersRCV000497491 RCV003766799
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys)	SNV Germline	ChrX:154364363	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant 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 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	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 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	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 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	CA10560094	rs_201396725	4 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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10560119	rs_370277156	3 SubmittersRCV000504288 RCV001692150 RCV002230985
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)	SNV Germline	ChrX:154359317	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant 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	CA10560569	rs_782426283	6 SubmittersRCV000504106 RCV000985096 RCV000838677 RCV001085359 RCV002314867
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)	SNV Germline	ChrX:154365247	Conflicting classifications of pathogenicity	not specified Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10561145	rs_782450368	4 SubmittersRCV000503127 RCV001509132 RCV001857098
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)	SNV Germline	ChrX:154368003	Conflicting classifications of pathogenicity	not specified Cardiac valvular dysplasia, X-linked Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications	CA10561407	rs_782240483	4 SubmittersRCV000499997 RCV001196653 RCV001764485 RCV002231175
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)	SNV Germline	ChrX:154371221	Conflicting classifications of pathogenicity	not specified 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	CA10561473	rs_782292045	4 SubmittersRCV000501455 RCV002056848 RCV002431459 RCV004541557
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)	SNV Germline	ChrX:154350999	Conflicting classifications of pathogenicity	not specified 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	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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA519707561	rs_1557177508	2 SubmittersRCV000517801 RCV003766921
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)	SNV Germline	ChrX:154354904	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	Criteria Provided Conflicting Classifications	CA10560384	rs_782555986	4 SubmittersRCV000520883 RCV001084701 RCV004023535
NM_001110556.2(FLNA):c.3814C>T (p.Arg1272Cys)	SNV Germline	ChrX:154359897	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	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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA415255897	rs_1557180289	2 SubmittersRCV000524050 RCV001857974
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)	SNV Germline	ChrX:154349738	Conflicting classifications of pathogenicity	Hematochezia Inflammation of the large intestine Thrombocytopenia Colitis Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337272867	rs_909387820	5 SubmittersRCV000735380 RCV001591231 RCV002232268 RCV002384138
NM_001110556.2(FLNA):c.4143-1G>T	SNV Germline	ChrX:154359407	Likely pathogenic	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	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	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia 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	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia 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	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia not specified	Criteria Provided Conflicting Classifications	CA10560091	rs_782761341	2 SubmittersRCV002231783 RCV003330766
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu)	SNV Germline	ChrX:154352883	Conflicting classifications of pathogenicity	Wolff-Parkinson-White pattern Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA337274985	rs_968230475	3 SubmittersRCV000656208 RCV002231782 RCV003332193
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)	SNV Germline	ChrX:154353407	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	CA10560201	rs_190712778	4 SubmittersRCV000532103 RCV001571401 RCV002358505
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)	SNV Germline	ChrX:154359520	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560599	rs_376774130	5 SubmittersRCV000729237 RCV001079000 RCV002314983
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)	SNV Germline	ChrX:154365374	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10561155	rs_782765195	2 SubmittersRCV000711667 RCV002231777
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met)	SNV Germline	ChrX:154366416	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	CA10561253	rs_201681328	2 SubmittersRCV000537961 RCV001591230
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	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	CA10560616	rs_782746289	3 SubmittersRCV000526244 RCV001786399 RCV003302829
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)	SNV Germline	ChrX:154350159	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	CA10559936	rs_202152952	3 SubmittersRCV000553794 RCV002377082 RCV003480675
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)	SNV Germline	ChrX:154351928	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome 9 conditions Heterotopia, periventricular, X-linked dominant not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10560021	rs_782275601	5 SubmittersRCV000528311 RCV000764859 RCV003389055 RCV001821546 RCV002367847
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met)	SNV Germline	ChrX:154353367	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia 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.1065G>A (p.Lys355=)	SNV Germline	ChrX:154366562	Pathogenic	Heterotopia, periventricular, X-linked dominant Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter	CA519709643	rs_1557179325	2 SubmittersRCV000577926 RCV002529037
NM_001110556.2(FLNA):c.3095G>A (p.Arg1032His)	SNV Germline	ChrX:154361420	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10560779	rs_781782783	2 SubmittersRCV000584929 RCV001853959
NM_001110556.2(FLNA):c.3555C>T (p.Cys1185=)	SNV Germline	ChrX:154360240	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	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 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	CA10561169	rs_61730768	4 SubmittersRCV000598415 RCV001085228 RCV002317335
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)	SNV Germline	ChrX:154350973	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome not specified Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10559957	rs_782591917	5 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 Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10559929	rs_782289803	4 SubmittersRCV000595937 RCV000697313 RCV003323625 RCV002315890
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)	SNV Germline	ChrX:154360579	Conflicting classifications of pathogenicity	Condition: not provided 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	CA10560744	rs_782006734	4 SubmittersRCV000727456 RCV001421208 RCV002325135
NM_001110556.2(FLNA):c.7052C>G (p.Ala2351Gly)	SNV Germline	ChrX:154351013	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications	CA10559962	rs_782583650	2 SubmittersRCV000593962 RCV002062106
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)	SNV Germline	ChrX:154366143	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561208	rs_782320818	5 SubmittersRCV000594598 RCV000863539 RCV003437298 RCV004024862
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys)	SNV Germline	ChrX:154366126	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FLNA-related disorder	Criteria Provided Conflicting Classifications	CA10561205	rs_782673341	4 SubmittersRCV000939350 RCV001698027 RCV002315931 RCV004544770
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)	SNV Germline	ChrX:154349473	Conflicting classifications of pathogenicity	Condition: not provided Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant	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	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	CA415180992	rs_1485769153	2 SubmittersRCV001855278 RCV002313372
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=)	SNV Germline	ChrX:154353699	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	Criteria Provided Conflicting Classifications	CA10560236	rs_367674709	3 SubmittersRCV000728023 RCV001080153 RCV002313356
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu)	SNV Germline	ChrX:154354915	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	Criteria Provided Conflicting Classifications	CA415207674	rs_1557176627	2 SubmittersRCV002232770 RCV002313373
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)	SNV Germline	ChrX:154359342	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	CA10560573	rs_781976719	3 SubmittersRCV001052134 RCV002313358 RCV003238784
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)	SNV Germline	ChrX:154360571	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 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	Heterotopia, periventricular, X-linked dominant 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	CA10560776	rs_781844419	4 SubmittersRCV002246005 RCV001868125 RCV002261135 RCV004025254
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)	SNV Germline	ChrX:154362742	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	CA10560955	rs_371839875	3 SubmittersRCV000704079 RCV002313349 RCV004544811
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp)	SNV Germline	ChrX:154364842	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	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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	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	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10561207	rs_372113435	4 SubmittersRCV001405516 RCV002264962 RCV003987624 RCV004025253
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)	SNV Germline	ChrX:154349533	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome 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 Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia 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	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	CA10560685	rs_376726422	2 SubmittersRCV002233039 RCV002458054
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=)	SNV Germline	ChrX:154360465	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA10560726	rs_781917512	3 SubmittersRCV000640803 RCV000728255 RCV002325249
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)	SNV Germline	ChrX:154349380	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant 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 Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia 9 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA10560110	rs_782400832	3 SubmittersRCV000640747 RCV000764862 RCV003238797
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)	SNV Germline	ChrX:154360266	Pathogenic	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant 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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337274538	rs_953454766	4 SubmittersRCV000640755 RCV001756067 RCV003387899 RCV004025609
NM_001110556.2(FLNA):c.5686+1G>C	SNV Germline	ChrX:154353914	Likely pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications	CA10560737	rs_369668866	2 SubmittersRCV001332003 RCV002233488
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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_367655833	3 SubmittersRCV000659674 RCV003767912 RCV004533445
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)	SNV Germline	ChrX:154359786	Conflicting classifications of pathogenicity	Connective tissue disorder 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		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 Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782546714	3 SubmittersRCV000659661 RCV001584517 RCV001066358
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln)	SNV Germline	ChrX:154365429	Conflicting classifications of pathogenicity	Connective tissue disorder Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_782539251	3 SubmittersRCV000659654 RCV001323349 RCV002464284
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met)	SNV Germline	ChrX:154359635	Conflicting classifications of pathogenicity	Connective tissue disorder Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_1569551635	2 SubmittersRCV000680539 RCV001239792
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)	SNV Germline	ChrX:154366398	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_782090266	3 SubmittersRCV000808311 RCV000680544 RCV001575087
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 Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		rs_1181500076	3 SubmittersRCV001420603 RCV001653977 RCV002233140
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)	SNV Germline	ChrX:154359846	Pathogenic	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_1557177623	1 SubmittersRCV002233306
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)	SNV Germline	ChrX:154354944	Conflicting classifications of pathogenicity	Intellectual disability Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_782351877	2 SubmittersRCV001260710 RCV002233446
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)	SNV Germline	ChrX:154361783	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		rs_782451202	2 SubmittersRCV002233562 RCV002440463
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)	SNV Germline	ChrX:154367685	Pathogenic/Likely pathogenic	Condition: not provided Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1569551861	2 SubmittersRCV000788202 RCV002232970
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)	SNV Germline	ChrX:154353628	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_782359458	4 SubmittersRCV001771953 RCV002233235 RCV004527743 RCV004025105
NM_001110556.2(FLNA):c.2565+1G>A	SNV Germline	ChrX:154362417	Pathogenic	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_786205186	1 SubmittersRCV002233328
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp)	SNV Germline	ChrX:154367439	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_1172505050	2 SubmittersRCV002233659 RCV003159156
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val)	SNV Germline	ChrX:154371169	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_782637786	2 SubmittersRCV002233163 RCV004535709
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)	SNV Germline	ChrX:154354983	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		rs_782469665	2 SubmittersRCV000690268 RCV003736890
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)	SNV Germline	ChrX:154371121	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		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 Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		rs_782129661	2 SubmittersRCV000711673 RCV001325801
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu)	SNV Germline	ChrX:154354689	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_1557176526	2 SubmittersRCV003768117 RCV004527757
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)	SNV Germline	ChrX:154364273	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia 1 FG syndrome 2 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome FLNA-related disorder	Criteria Provided Conflicting Classifications		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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Familial thoracic aortic aneurysm and aortic dissection 9 conditions	Criteria Provided Conflicting Classifications		rs_782066542	4 SubmittersRCV001546023 RCV001862046 RCV002315302 RCV002485809
NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met)	SNV Germline	ChrX:154354980	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		rs_782751731	2 SubmittersRCV002318681 RCV002534931
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys)	SNV Germline	ChrX:154359255	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	Criteria Provided Conflicting Classifications		rs_192337215	2 SubmittersRCV001060925 RCV002315348
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)	SNV Germline	ChrX:154361541	Conflicting classifications of pathogenicity	9 conditions 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		rs_782445995	3 SubmittersRCV000767980 RCV001484126 RCV002313493
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His)	SNV Germline	ChrX:154365139	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		rs_781852373	2 SubmittersRCV001224183 RCV002318721
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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		rs_367948333	3 SubmittersRCV001332001 RCV002318784 RCV003768147
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn)	SNV Germline	ChrX:154364654	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	Criteria Provided Conflicting Classifications		rs_782718606	3 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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome 9 conditions	Criteria Provided Conflicting Classifications		rs_371368679	3 SubmittersRCV002314533 RCV003768132 RCV002477658
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)	SNV Germline	ChrX:154354973	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782352193	3 SubmittersRCV000722508 RCV001862119
NM_001110556.2(FLNA):c.1287G>A (p.Thr429=)	SNV Germline	ChrX:154366166	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		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 Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782513930	2 SubmittersRCV000731636 RCV003768214
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile)	SNV Germline	ChrX:154364615	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		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 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		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 Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications		rs_781928289	4 SubmittersRCV000754796 RCV001219151 RCV002370002 RCV003987692
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)	SNV Germline	ChrX:154352921	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_781860863	2 SubmittersRCV000756177 RCV001324932
NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp)	SNV Germline	ChrX:154365454	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782434042	3 SubmittersRCV000756179 RCV001855871
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro)	SNV Germline	ChrX:154371226	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Condition: not provided FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_781814342	3 SubmittersRCV001219313 RCV001577378 RCV004527818
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)	SNV Germline	ChrX:154349820	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1557175387	2 SubmittersRCV002235900 RCV002285414
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)	SNV Germline	ChrX:154350190	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		rs_782645927	2 SubmittersRCV000804857 RCV001759539
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)	SNV Germline	ChrX:154352574	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		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 Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_10458342	2 SubmittersRCV002352379 RCV003768508
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)	SNV Germline	ChrX:154355033	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1381802174	2 SubmittersRCV002235442 RCV003442116
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)	SNV Germline	ChrX:154357607	Conflicting classifications of pathogenicity	Condition: not provided Sudden unexplained death in childhood Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_372729831	3 SubmittersRCV001550579 RCV001788358 RCV002235050
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)	SNV Germline	ChrX:154359115	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_201886752	2 SubmittersRCV002235904 RCV002508261
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)	SNV Germline	ChrX:154361408	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		rs_782758177	2 SubmittersRCV000804267 RCV001592997
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)	SNV Germline	ChrX:154362284	Conflicting classifications of pathogenicity	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		rs_185503240	2 SubmittersRCV000821182 RCV002427058
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)	SNV Germline	ChrX:154364119	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications		rs_375038091	3 SubmittersRCV000816539 RCV001561967 RCV002427019
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)	SNV Germline	ChrX:154364551	Conflicting classifications of pathogenicity	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		rs_374295965	2 SubmittersRCV002235075 RCV002422830
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)	SNV Germline	ChrX:154365388	Conflicting classifications of pathogenicity	Condition: not provided Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_782698277	2 SubmittersRCV001766707 RCV002234870
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)	SNV Germline	ChrX:154365462	Conflicting classifications of pathogenicity	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		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 Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_781988041	2 SubmittersRCV002274101 RCV002234288
NM_001110556.2(FLNA):c.4142+1G>A	SNV Germline	ChrX:154359483	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Single Submitter		rs_1603360906	1 SubmittersRCV002235125
NM_001110556.2(FLNA):c.2023-5G>A	SNV Germline	ChrX:154364377	Conflicting classifications of pathogenicity	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		rs_782694533	3 SubmittersRCV000861508 RCV002415979 RCV004538179
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe)	SNV Germline	ChrX:154352913	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_782157246	3 SubmittersRCV000864751 RCV001664498 RCV002352524
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)	SNV Germline	ChrX:154357480	Conflicting classifications of pathogenicity	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_782495669	3 SubmittersRCV000865430 RCV001539581 RCV003396504
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)	SNV Germline	ChrX:154349560	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_782244918	2 SubmittersRCV000871844 RCV001766780
NM_001110556.2(FLNA):c.1045G>A (p.Glu349Lys)	SNV Germline	ChrX:154366582	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications		rs_370490152	3 SubmittersRCV002066179 RCV002400070 RCV003332272
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys)	SNV Germline	ChrX:154352349	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		rs_782621818	3 SubmittersRCV002363519 RCV000996061 RCV001858827
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)	SNV Germline	ChrX:154353316	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		rs_1483960506	5 SubmittersRCV000996065 RCV001205098 RCV002354903
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)	SNV Germline	ChrX:154358540	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	Criteria Provided Conflicting Classifications		rs_1324926264	3 SubmittersRCV001000791 RCV001836929 RCV002068759
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)	SNV Germline	ChrX:154349559	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection Thrombocytopenia	Criteria Provided Conflicting Classifications		rs_781959191	3 SubmittersRCV001061077 RCV003160489 RCV003447576
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)	SNV Germline	ChrX:154349733	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_782563616	2 SubmittersRCV001065270 RCV001759832
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)	SNV Germline	ChrX:154353654	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_1359141531	1 SubmittersRCV001061715
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)	SNV Germline	ChrX:154365218	Conflicting classifications of pathogenicity	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		rs_782067087	2 SubmittersRCV001050668 RCV002400288
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)	SNV Germline	ChrX:154366077	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	Criteria Provided Conflicting Classifications		rs_375463904	4 SubmittersRCV001039819 RCV001564098 RCV002379498
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)	SNV Germline	ChrX:154366377	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_2067760741	1 SubmittersRCV001071657
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)	SNV Germline	ChrX:154366593	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_2067763458	1 SubmittersRCV001058596
NM_001110556.2(FLNA):c.2827-2A>C	SNV Germline	ChrX:154361789	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_2067713488	1 SubmittersRCV001065114
NM_001110556.2(FLNA):c.1065+1G>T	SNV Germline	ChrX:154366561	Likely pathogenic	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter		rs_2067762985	1 SubmittersRCV001043643
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)	SNV Germline	ChrX:154362516	Conflicting classifications of pathogenicity	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_1557178278	2 SubmittersRCV001195903 RCV003770199
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)	SNV Germline	ChrX:154358448	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782460301	2 SubmittersRCV001219915 RCV001813815
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)	SNV Germline	ChrX:154367459	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_782157170	3 SubmittersRCV001221637 RCV001732079 RCV003490132
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)	SNV Germline	ChrX:154360053	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Single Submitter		rs_2067693064	1 SubmittersRCV001211252
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)	SNV Germline	ChrX:154361534	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome 9 conditions	Criteria Provided Conflicting Classifications		rs_3819330	2 SubmittersRCV001208356 RCV002484125
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)	SNV Germline	ChrX:154349840	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		rs_781788290	2 SubmittersRCV001225484 RCV004032537
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)	SNV Germline	ChrX:154353442	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		rs_1198953814	2 SubmittersRCV001229938 RCV003145437
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)	SNV Germline	ChrX:154357555	Pathogenic	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter		rs_781789823	1 SubmittersRCV001232709
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)	SNV Germline	ChrX:154352646	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		rs_782142395	2 SubmittersRCV001243216 RCV003442806
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)	SNV Germline	ChrX:154358243	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_190415098	3 SubmittersRCV001247915 RCV001566470 RCV004528438
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)	SNV Germline	ChrX:154366449	Pathogenic	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Single Submitter		rs_2067761804	1 SubmittersRCV001241863
NM_001110556.2(FLNA):c.4474+3G>A	SNV Germline	ChrX:154358981	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_1286863443	2 SubmittersRCV001232318 RCV004545140
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser)	SNV Germline	ChrX:154354232	Conflicting classifications of pathogenicity	Intellectual disability Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782269425	3 SubmittersRCV001260709 RCV001558240 RCV003770351
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 Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_1557176194	2 SubmittersRCV001374498 RCV003770356
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr)	SNV Germline	ChrX:154361492	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Condition: not provided Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		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 Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782689584	2 SubmittersRCV001810698 RCV002541802
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)	SNV Germline	ChrX:154353452	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Melnick-Needles syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_930325486	2 SubmittersRCV001300840 RCV002511074
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met)	SNV Germline	ChrX:154354988	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_781783107	2 SubmittersRCV001307499 RCV002543197
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)	SNV Germline	ChrX:154362673	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided 9 conditions	Criteria Provided Conflicting Classifications		rs_782454177	3 SubmittersRCV001309829 RCV002282513 RCV002476433
NM_001110556.2(FLNA):c.720+5A>T	SNV Germline	ChrX:154367636	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_1569551860	2 SubmittersRCV001303285 RCV004531087
NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly)	SNV Germline	ChrX:154371227	Conflicting classifications of pathogenicity	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		rs_941318584	2 SubmittersRCV001300917 RCV004036185
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)	SNV Germline	ChrX:154351613	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_371689052	2 SubmittersRCV001314256 RCV001773626
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His)	SNV Germline	ChrX:154359550	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		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 Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		rs_1360400826	2 SubmittersRCV001331936 RCV002546520
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)	SNV Germline	ChrX:154359825	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		rs_781816229	3 SubmittersRCV001336375 RCV001871884 RCV002368114
NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His)	SNV Germline	ChrX:154349750	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_782338659	2 SubmittersRCV001345760 RCV003120574
NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu)	SNV Germline	ChrX:154354896	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_1557176613	3 SubmittersRCV001347480 RCV001587367 RCV004528475
NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=)	SNV Germline	ChrX:154359397	Conflicting classifications of pathogenicity	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		rs_2067687057	3 SubmittersRCV001342636 RCV001673047 RCV003294352
NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)	SNV Germline	ChrX:154360152	Conflicting classifications of pathogenicity	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		rs_782482207	2 SubmittersRCV001350272 RCV002350656
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)	SNV Germline	ChrX:154362070	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_782140888	2 SubmittersRCV001349995 RCV003145603
NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp)	SNV Germline	ChrX:154364338	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications		rs_1360829798	3 SubmittersRCV001347901 RCV001536582 RCV002419026
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)	SNV Germline	ChrX:154354216	Conflicting classifications of pathogenicity	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		rs_781882457	2 SubmittersRCV001369194 RCV002350709
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)	SNV Germline	ChrX:154362308	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia 9 conditions	Criteria Provided Conflicting Classifications		rs_1557178198	2 SubmittersRCV001372973 RCV002493899
NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)	SNV Germline	ChrX:154365361	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		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 Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2148118126	2 SubmittersRCV001378079 RCV001780283
NM_001110556.2(FLNA):c.622+1G>A	SNV Germline	ChrX:154367841	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_2148119316	1 SubmittersRCV001379671
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)	SNV Germline	ChrX:154361550	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_1557178045	1 SubmittersRCV001389179
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)	SNV Germline	ChrX:154367887	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		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 Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_1603359437	2 SubmittersRCV001419325 RCV003160679
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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_782331362	2 SubmittersRCV001439853 RCV003145663
NM_001110556.2(FLNA):c.3957G>A (p.Val1319=)	SNV Germline	ChrX:154359754	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		rs_2148111675	2 SubmittersRCV001471563 RCV003227035
NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys)	SNV Germline	ChrX:154365140	Conflicting classifications of pathogenicity	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		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 Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia not specified	Criteria Provided Conflicting Classifications		rs_371366175	5 SubmittersRCV001508978 RCV001843589 RCV001882561 RCV002469399
NM_001110556.2(FLNA):c.1114G>T (p.Val372Leu)	SNV Germline	ChrX:154366422	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_781848457	3 SubmittersRCV001509133 RCV003771556
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)	SNV Germline	ChrX:154361561	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_782804253	2 SubmittersRCV001513731 RCV002261371
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)	SNV Germline	ChrX:154353299	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		rs_200956777	3 SubmittersRCV001557645 RCV002359171 RCV002032624
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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		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 Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia FLNA-related disorder	Criteria Provided Conflicting Classifications		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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		rs_782772998	3 SubmittersRCV001572051 RCV003323905 RCV002569056
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg)	SNV Germline	ChrX:154366746	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		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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		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 Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications		rs_1293701269	2 SubmittersRCV001589592 RCV001866123
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)	SNV Germline	ChrX:154354261	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		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_781994403	2 SubmittersRCV001666713 RCV002538585
NM_001110556.2(FLNA):c.1346C>A (p.Thr449Asn)	SNV Germline	ChrX:154366107	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		rs_1304244536	2 SubmittersRCV001754140 RCV002538728
NM_001110556.2(FLNA):c.1885G>A (p.Gly629Ser)	SNV Germline	ChrX:154364663	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		rs_1431672096	2 SubmittersRCV001756505 RCV003771911
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn)	SNV Germline	ChrX:154364675	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		rs_1557178769	2 SubmittersRCV001757835 RCV002543941
NM_001110556.2(FLNA):c.2726T>C (p.Val909Ala)	SNV Germline	ChrX:154362079	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		rs_1557178152	2 SubmittersRCV001763522 RCV003771978
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser)	SNV Germline	ChrX:154354630	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		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_781962577	2 SubmittersRCV001752495 RCV003772012
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile)	SNV Germline	ChrX:154366165	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		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_1557175388	2 SubmittersRCV001763687 RCV002540464
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)	SNV Germline	ChrX:154353448	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		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 Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_782043699	2 SubmittersRCV001773174 RCV002544150
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)	SNV Germline	ChrX:154360335	Conflicting classifications of pathogenicity	Condition: not provided Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome	Criteria Provided Conflicting Classifications		rs_1557177750	2 SubmittersRCV001811778 RCV002541359
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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_782371876	3 SubmittersRCV001820354 RCV001869716 RCV002397761
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)	SNV Germline	ChrX:154351014	Conflicting classifications of pathogenicity	not specified Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_1557175653	2 SubmittersRCV001817644 RCV002542698
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)	SNV Germline	ChrX:154359026	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_781855364	2 SubmittersRCV001870460 RCV004536377
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)	SNV Germline	ChrX:154364318	Conflicting classifications of pathogenicity	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		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 Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_781988346	2 SubmittersRCV001906214 RCV002422996
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)	SNV Germline	ChrX:154352833	Pathogenic	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		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 Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_782082407	2 SubmittersRCV001864658 RCV003382671
NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)	SNV Germline	ChrX:154350109	Conflicting classifications of pathogenicity	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		rs_782308324	2 SubmittersRCV001882924 RCV002370416
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)	SNV Germline	ChrX:154351893	Pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Single Submitter		rs_2148103458	1 SubmittersRCV001950812
NM_001110556.2(FLNA):c.7023+1G>T	SNV Germline	ChrX:154351580	Likely pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Single Submitter		rs_2148102980	1 SubmittersRCV002010697
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)	SNV Germline	ChrX:154364641	Pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Single Submitter		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 Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_376867823	3 SubmittersRCV001943702 RCV003167237
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)	SNV Germline	ChrX:154360544	Conflicting classifications of pathogenicity	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		rs_1557177797	2 SubmittersRCV001947187 RCV002324258
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)	SNV Germline	ChrX:154358329	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia 9 conditions not specified	Criteria Provided Conflicting Classifications		rs_782281134	3 SubmittersRCV002042590 RCV002498009 RCV003120800
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu)	SNV Germline	ChrX:154371175	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	Criteria Provided Conflicting Classifications		rs_1350949025	2 SubmittersRCV001944429 RCV004042092
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)	SNV Germline	ChrX:154365143	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	Criteria Provided Conflicting Classifications		rs_781806203	2 SubmittersRCV001933703 RCV002397930
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser)	SNV Germline	ChrX:154350040	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II See cases	Criteria Provided Conflicting Classifications		rs_782189345	2 SubmittersRCV001895675 RCV002252716
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	SNV Germline	ChrX:154348959	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Cardiac valvular dysplasia, X-linked FLNA-related disorder	Criteria Provided Conflicting Classifications		rs_781864075	3 SubmittersRCV002031730 RCV002266096 RCV004538751
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)	SNV Germline	ChrX:154360553	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	Criteria Provided Conflicting Classifications		rs_782561908	2 SubmittersRCV002019406 RCV002324466
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)	SNV Germline	ChrX:154364890	Pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Single Submitter		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 Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_200857989	2 SubmittersRCV001885997 RCV004041075
NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp)	SNV Germline	ChrX:154354672	Conflicting classifications of pathogenicity	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		rs_782147650	2 SubmittersRCV002018609 RCV002346299
NM_001110556.2(FLNA):c.7333+1G>C	SNV Germline	ChrX:154350030	Likely pathogenic	Melnick-Needles syndrome Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia	Criteria Provided Single Submitter		rs_1557175424	1 SubmittersRCV002045185
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)	SNV Germline	ChrX:154362143	Conflicting classifications of pathogenicity	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		rs_782580568	2 SubmittersRCV001886189 RCV004041178
NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)	SNV Germline	ChrX:154351689	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Thrombocytopenia Condition: not provided	Criteria Provided Conflicting Classifications		rs_781910090	3 SubmittersRCV002109062 RCV003313794 RCV003738149
NM_001110556.2(FLNA):c.2405-5C>T	SNV Germline	ChrX:154362583	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		rs_781892155	3 SubmittersRCV002213977 RCV003146520 RCV002454583
NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser)	SNV Germline	ChrX:154367679	Pathogenic	Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter		rs_2148119164	1 SubmittersRCV002238711
NM_001110556.2(FLNA):c.1111G>A (p.Glu371Lys)	SNV Germline	ChrX:154366425	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications		rs_1557179279	2 SubmittersRCV002244569 RCV003093953
NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp)	SNV Germline	ChrX:154364116	Conflicting classifications of pathogenicity	Condition: not provided Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications		rs_782330533	2 SubmittersRCV002261667 RCV003095887
NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr)	SNV Germline	ChrX:154359402	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 SubmittersRCV002333188 RCV003094547
NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)	SNV Germline	ChrX:154349496	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			2 SubmittersRCV002394175 RCV003099692
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			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 Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia	Criteria Provided Conflicting Classifications			2 SubmittersRCV002464944 RCV002571379
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)	SNV Germline	ChrX:154366417	Pathogenic	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002571581 RCV002510211
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)	SNV Germline	ChrX:154365226	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			2 SubmittersRCV003077672 RCV003108147
NM_001110556.2(FLNA):c.4455C>T (p.Val1485=)	SNV Germline	ChrX:154359003	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			2 SubmittersRCV002615928 RCV003143513
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)	SNV Germline	ChrX:154366207	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			2 SubmittersRCV002591828 RCV004068871
NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)	SNV Germline	ChrX:154351919	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002625122 RCV003143526
NM_001110556.2(FLNA):c.4142+17G>A	SNV Germline	ChrX:154359467	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002623887 RCV003317651
NM_001110556.2(FLNA):c.4112A>C (p.Asn1371Thr)	SNV Germline	ChrX:154359514	Conflicting classifications of pathogenicity	Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Melnick-Needles syndrome Frontometaphyseal dysplasia FLNA-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002587336 RCV004529154
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)	SNV Germline	ChrX:154362313	Conflicting classifications of pathogenicity	Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002671470 RCV003128870
NM_001110556.2(FLNA):c.868+1G>A	SNV Germline	ChrX:154367396	Likely pathogenic	Frontometaphyseal dysplasia Melnick-Needles syndrome Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002745608 RCV003146613
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 Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002814367 RCV003777005
NM_001110556.2(FLNA):c.4598+1G>A	SNV Germline	ChrX:154358444	Likely pathogenic	Oto-palato-digital syndrome, type II Heterotopia, periventricular, X-linked dominant Frontometaphyseal dysplasia Melnick-Needles syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002889880
NM_001110556.2(FLNA):c.2405-1G>C	SNV Germline	ChrX:154362579	Likely pathogenic	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter			1 SubmittersRCV002962362
NM_001110556.2(FLNA):c.2826+20C>T	SNV Germline	ChrX:154361959	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			2 SubmittersRCV003324059 RCV002988448
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)	SNV Germline	ChrX:154366609	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			2 SubmittersRCV002982933 RCV004065226
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)	SNV Germline	ChrX:154370936	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			2 SubmittersRCV002994966 RCV003146721
NM_001110556.2(FLNA):c.5150C>T (p.Pro1717Leu)	SNV Germline	ChrX:154354892	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			2 SubmittersRCV002999899 RCV003327581
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)	SNV Germline	ChrX:154371124	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			2 SubmittersRCV003027422 RCV003138453
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)	SNV Germline	ChrX:154370966	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Single Submitter			1 SubmittersRCV003040916
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 Frontometaphyseal dysplasia Melnick-Needles syndrome Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications			2 SubmittersRCV003144010 RCV003778874
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 Frontometaphyseal dysplasia Oto-palato-digital syndrome, type II	Criteria Provided Conflicting Classifications			3 SubmittersRCV003171199 RCV003235788 RCV003778991
NM_001110556.2(FLNA):c.3847C>T (p.Arg1283Trp)	SNV Germline	ChrX:154359864	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			2 SubmittersRCV003329611 RCV003777379
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 FLNA-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003778238 RCV004528049
NM_001110556.2(FLNA):c.374-2A>G	SNV Germline	ChrX:154368092	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003783797
NM_001110556.2(FLNA):c.5417-2A>G	SNV Germline	ChrX:154354293	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003783008
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)	SNV Germline	ChrX:154349482	Pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003807755
NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)	SNV Germline	ChrX:154366443	Conflicting classifications of pathogenicity	Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, X-linked dominant Oto-palato-digital syndrome, type II FLNA-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003806912 RCV004542278
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)	SNV Germline	ChrX:154348863	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003805584
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)	SNV Germline	ChrX:154354882	Pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003801983
NM_001110556.2(FLNA):c.3805+1G>A	SNV Germline	ChrX:154359989	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003815728
NM_001110556.2(FLNA):c.3805+2T>C	SNV Germline	ChrX:154359988	Likely pathogenic	Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Oto-palato-digital syndrome, type II Frontometaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003815440

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

Criteria Provided
Conflicting Classifications

CA256053

rs_137853311

4 SubmittersRCV000012518 RCV001753412 RCV002273924 RCV001857335

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

SNV
Germline

ChrX:154371001

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256056

rs_28935469

8 SubmittersRCV000012521 RCV000415125 RCV001000894 RCV002509151 RCV003764562 RCV004545725 RCV002354156

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

SNV
Germline

ChrX:154367505

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221728

rs_28935470

5 SubmittersRCV000012522 RCV000178843 RCV001851804

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341132

rs_28935473

5 SubmittersRCV000012525 RCV001382364

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

SNV
Germline

ChrX:154360238

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256058

rs_137853312

5 SubmittersRCV000012527 RCV000414151 RCV002228026 RCV002051782

NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr)

SNV
Germline

ChrX:154367857

Pathogenic

Oto-palato-digital syndrome, type I

No Assertion Criteria Provided

CA256060

rs_137853314

1 SubmittersRCV000012532

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
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Condition: not provided
FLNA-related periventricular nodular heterotopia

Criteria Provided
Conflicting Classifications

CA256062

rs_80338841

6 SubmittersRCV000012536 RCV000020423 RCV001348560 RCV001753413 RCV001563663

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

SNV
Germline

ChrX:154367878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234009

rs_137853317

5 SubmittersRCV000012539 RCV000012538 RCV000153245 RCV000560177

NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe)

SNV
Germline

ChrX:154367732

Pathogenic

Oto-palato-digital syndrome, type II

No Assertion Criteria Provided

CA256064

rs_137853318

1 SubmittersRCV000012540

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

SNV
Germline

ChrX:154354825

Pathogenic

Terminal osseous dysplasia-pigmentary defects syndrome
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
Multiple Submitters
No Conflicts

CA341134

rs_387907371

5 SubmittersRCV000012542 RCV001292939 RCV001091828 RCV001205323

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
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

CA274722

rs_202181557

11 SubmittersRCV000079687 RCV000170402 RCV000231754 RCV002390234 RCV001573339

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

SNV
Germline

ChrX:154371009

Conflicting classifications of pathogenicity

Condition: not provided
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
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA221699

rs_200626788

10 SubmittersRCV000079688 RCV000259078 RCV001089423 RCV004019541 RCV000659650

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

SNV
Germline

ChrX:154362044

Pathogenic/Likely pathogenic

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

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
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

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

Criteria Provided
Conflicting Classifications

CA221709

rs_371677498

5 SubmittersRCV000079693 RCV000764863 RCV001854407 RCV001001353

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

SNV
Germline

ChrX:154360416

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
Familial thoracic aortic aneurysm and aortic dissection
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA221712

rs_398123617

8 SubmittersRCV000514621 RCV001089189 RCV000196824 RCV002453400 RCV004542758

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

SNV
Germline

ChrX:154359286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221715

rs_398123618

5 SubmittersRCV000079696 RCV002326796 RCV000680538 RCV002228211

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

SNV
Germline

ChrX:154358500

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

CA221720

rs_186214592

3 SubmittersRCV000176728 RCV003764758

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

SNV
Germline

ChrX:154352931

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

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

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
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA231094

rs_200278701

8 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
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
See cases

Criteria Provided
Conflicting Classifications

CA231097

rs_202029322

14 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
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA231100

rs_587780335

4 SubmittersRCV000117043 RCV001087153

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

SNV
Germline

ChrX:154361470

Conflicting classifications of pathogenicity

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
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA231101

rs_370868704

8 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
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA231110

rs_199565118

8 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
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA231111

rs_371501734

6 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
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

CA231114

rs_199911951

7 SubmittersRCV000117053 RCV000200324 RCV001085804 RCV004019633 RCV004542840

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

SNV
Germline

ChrX:154350192

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

CA234011

rs_727503930

6 SubmittersRCV000234036 RCV000723787 RCV002312990

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

SNV
Germline

ChrX:154352860

Conflicting classifications of pathogenicity

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

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
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
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.4451A>G (p.Gln1484Arg)

SNV
Germline

ChrX:154359007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA274737

rs_200130356

18 SubmittersRCV000170415 RCV000193523 RCV000475968 RCV000659667 RCV000582185 RCV001579665 RCV004020018 RCV003313943

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
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

CA274734

rs_377390031

5 SubmittersRCV000170413 RCV000640771 RCV001442515 RCV002321679

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

SNV
Germline

ChrX:154364378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA274726

rs_782193139

3 SubmittersRCV000170405 RCV001657940 RCV002228616

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

SNV
Germline

ChrX:154364837

Conflicting classifications of pathogenicity

not specified
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

CA239820

rs_370735674

6 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
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

CA211149

rs_200660642

12 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
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Disorder of sexual differentiation
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA240862

rs_200053635

14 SubmittersRCV000198787 RCV000416150 RCV000509326 RCV000680542 RCV001087877 RCV001568328 RCV002313039

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

SNV
Germline

ChrX:154361972

Conflicting classifications of pathogenicity

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

CA242190

rs_199530601

5 SubmittersRCV000176286 RCV000724187 RCV001082209 RCV002317022

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
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia

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

Criteria Provided
Conflicting Classifications

CA202041

rs_782129236

5 SubmittersRCV000176638 RCV000556510 RCV001589054 RCV002326964

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

SNV
Germline

ChrX:154352643

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

CA244988

rs_200524526

9 SubmittersRCV000724209 RCV001087795 RCV002314640

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

SNV
Germline

ChrX:154367745

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

Criteria Provided
Conflicting Classifications

CA245194

rs_782670288

3 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
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

CA245558

rs_797044739

5 SubmittersRCV000178456 RCV001252501 RCV002228788 RCV002362915

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

SNV
Germline

ChrX:154351607

Conflicting classifications of pathogenicity

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

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
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

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
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

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
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

CA245806

rs_782372740

3 SubmittersRCV000178622 RCV002516777 RCV002408772

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

SNV
Germline

ChrX:154367532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246036

rs_797044753

2 SubmittersRCV000178845 RCV001312936

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

SNV
Germline

ChrX:154366818

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246631

rs_192609440

8 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
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

CA211152

rs_199853721

12 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
Condition: not provided
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
not specified

Criteria Provided
Conflicting Classifications

CA210133

rs_369717556

8 SubmittersRCV000201336 RCV001553477 RCV000866800 RCV003987436

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
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250342

rs_797045044

3 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
Condition: not provided
9 conditions

Criteria Provided
Conflicting Classifications

CA209144

rs_797045579

4 SubmittersRCV000194760 RCV002229019 RCV003736630 RCV003224214

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

SNV
Germline

ChrX:154360078

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

CA207260

rs_372265042

7 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
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

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

Criteria Provided
Conflicting Classifications

CA208837

rs_782571710

2 SubmittersRCV000194585 RCV001450134

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

Criteria Provided
Conflicting Classifications

CA208448

rs_782791907

5 SubmittersRCV000194338 RCV001731512 RCV002229018 RCV003237759

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

5 SubmittersRCV000193102 RCV001041470 RCV001566737 RCV002314817

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

SNV
Germline

ChrX:154371180

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

CA208737

rs_782358007

5 SubmittersRCV000194522 RCV001697271 RCV001520948 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

Criteria Provided
Conflicting Classifications

CA322167

rs_200836471

3 SubmittersRCV000197706 RCV002229481

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

Criteria Provided
Conflicting Classifications

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
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

CA319805

rs_782557713

8 SubmittersRCV000640791 RCV001086641 RCV002315602 RCV004530161

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

SNV
Germline

ChrX:154350930

Conflicting classifications of pathogenicity

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

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
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

CA323932

rs_782739586

6 SubmittersRCV000756178 RCV001511862 RCV004020370 RCV004530160

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

SNV
Germline

ChrX:154352837

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

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

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

Criteria Provided
Conflicting Classifications

CA324507

rs_781920955

2 SubmittersRCV000199955 RCV003765248

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

SNV
Germline

ChrX:154354014

Conflicting classifications of pathogenicity

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

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

5 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
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

CA320471

rs_56102764

15 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
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

CA321659

rs_782774182

3 SubmittersRCV000197214 RCV001089123 RCV003298256

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

SNV
Germline

ChrX:154360389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA320587

rs_782395522

2 SubmittersRCV000196168 RCV001853151

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

SNV
Germline

ChrX:154360536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA325093

rs_782518956

2 SubmittersRCV000200512 RCV001396171

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

SNV
Germline

ChrX:154361689

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

Criteria Provided
Conflicting Classifications

CA321868

rs_375495397

4 SubmittersRCV001312410 RCV001705114 RCV002433879

NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser)

SNV
Germline

ChrX:154361771

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
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA323149

rs_372718245

4 SubmittersRCV000198619 RCV000867960 RCV002433878 RCV004541255

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

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
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

CA322615

rs_782551055

3 SubmittersRCV000198128 RCV000640796 RCV003298255

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

SNV
Germline

ChrX:154364140

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

CA324365

rs_781840723

4 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

6 SubmittersRCV000844958 RCV001711508 RCV001818466 RCV001853153 RCV002317718

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

SNV
Germline

ChrX:154364878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA323733

rs_782776511

4 SubmittersRCV000199201 RCV001499994 RCV001836752

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

SNV
Germline

ChrX:154365206

Conflicting classifications of pathogenicity

Condition: not provided
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
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

CA325389

rs_743546

6 SubmittersRCV000200807 RCV001804931 RCV002228873 RCV002315603 RCV004530162

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

SNV
Germline

ChrX:154365211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA324424

rs_863223618

3 SubmittersRCV000199879 RCV001853152

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
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

CA324608

rs_200048692

11 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
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

CA322045

rs_782447567

3 SubmittersRCV000197586 RCV000764866 RCV001350783

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
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

CA321035

rs_863223641

3 SubmittersRCV000196613 RCV003765250

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

SNV
Germline

ChrX:154350109

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA10561173

rs_782168634

6 SubmittersRCV000224666 RCV000640774 RCV002311065 RCV004532826

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

SNV
Germline

ChrX:154362582

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

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

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

CA10559825

rs_782593788

2 SubmittersRCV001296877 RCV002311136

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

SNV
Germline

ChrX:154349514

Conflicting classifications of pathogenicity

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

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

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

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

CA10561292

rs_782643025

2 SubmittersRCV001859466 RCV002311167

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

SNV
Germline

ChrX:154371170

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

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

Criteria Provided
Conflicting Classifications

CA10560164

rs_782221205

3 SubmittersRCV000276407 RCV003765587

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

SNV
Germline

ChrX:154354260

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
FLNA-related disorder

Criteria Provided
Conflicting Classifications

CA10560311

rs_782806731

4 SubmittersRCV000387082 RCV004021087 RCV001407250 RCV004542992

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

SNV
Germline

ChrX:154367734

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

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

Criteria Provided
Conflicting Classifications

CA10604151

rs_886044791

2 SubmittersRCV000306175 RCV001435833

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

SNV
Germline

ChrX:154352026

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

CA10560032

rs_370913359

3 SubmittersRCV000277797 RCV002519125

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

SNV
Germline

ChrX:154351987

Conflicting classifications of pathogenicity

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

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

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
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

CA10560723

rs_368441729

3 SubmittersRCV000304105 RCV003765619 RCV004021160

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

SNV
Germline

ChrX:154353180

Conflicting classifications of pathogenicity

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

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
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

CA10559899

rs_369179210

4 SubmittersRCV000316860 RCV002314022 RCV001469721

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

SNV
Germline

ChrX:154366627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10605588

rs_886044859

5 SubmittersRCV000361495 RCV000725907 RCV001067290

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

SNV
Germline

ChrX:154366426

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

CA10605751

rs_886044869

2 SubmittersRCV000288584 RCV002521972

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

SNV
Germline

ChrX:154353052

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
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

6 SubmittersRCV000357488 RCV000690045 RCV000726216 RCV002356391

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

SNV
Germline

ChrX:154366211

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

CA10561221

rs_782598234

4 SubmittersRCV000293162 RCV002059257

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
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

CA10560351

rs_370196495

5 SubmittersRCV000726349 RCV001086540 RCV002338858

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

SNV
Germline

ChrX:154349490

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10559860

8 SubmittersRCV000435841 RCV000559847 RCV000760220 RCV000762685 RCV002393056

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

SNV
Germline

ChrX:154349812

Conflicting classifications of pathogenicity

not specified
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

CA10559894

rs_373103712

4 SubmittersRCV000444645 RCV002379331 RCV002230253

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

SNV
Germline

ChrX:154362511

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

CA10560917

rs_782669943

4 SubmittersRCV000727012 RCV001079050 RCV002446650

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
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10560948

rs_201073998

3 SubmittersRCV000426387 RCV000547200 RCV002450976

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

SNV
Germline

ChrX:154371181

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

CA10561466

rs_782598729

5 SubmittersRCV000513921 RCV000539831 RCV002374716

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

SNV
Germline

ChrX:154357461

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

CA16608774

rs_1057524434

2 SubmittersRCV000418133 RCV002522679

NM_001110556.2(FLNA):c.4475-4C>T

SNV
Germline

ChrX:154358572

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

Criteria Provided
Conflicting Classifications

CA16608802

rs_199652065

4 SubmittersRCV000557838 RCV000992000 RCV002313145

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

SNV
Germline

ChrX:154361303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16609149

rs_1057520770

2 SubmittersRCV000427375 RCV001851053

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

SNV
Germline

ChrX:154362290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16609151

rs_1057524473

2 SubmittersRCV000424847 RCV003766455

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

SNV
Germline

ChrX:154366751

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

CA10561322

rs_371830740

4 SubmittersRCV000419413 RCV001214184 RCV002374687

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

SNV
Germline

ChrX:154353704

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

Criteria Provided
Conflicting Classifications

CA10560238

rs_782549964

6 SubmittersRCV000502032 RCV000786134 RCV002230759

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

SNV
Germline

ChrX:154354010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10560273

rs_782095418

3 SubmittersRCV000476019 RCV002348277 RCV004584385

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

SNV
Germline

ChrX:154360127

Pathogenic

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

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

CA10560912

rs_781846227

3 SubmittersRCV000459346 RCV002307501 RCV002318517

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

SNV
Germline

ChrX:154352226

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

CA16616627

rs_1060500717

2 SubmittersRCV000728731 RCV001387919

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

SNV
Germline

ChrX:154360272

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

Criteria Provided
Conflicting Classifications

CA10560695

rs_370202395

3 SubmittersRCV000513123 RCV002230319 RCV003488602

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

SNV
Germline

ChrX:154364551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10561034

rs_374295965

5 SubmittersRCV000462684 RCV000996069 RCV001843519 RCV002418357

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

SNV
Germline

ChrX:154352449

Likely pathogenic

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

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

CA10561041

rs_782563602

8 SubmittersRCV000728595 RCV001821400 RCV002313254 RCV002230953

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
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

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

Criteria Provided
Conflicting Classifications

CA10560710

rs_782318545

2 SubmittersRCV000489979 RCV002526013

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

SNV
Germline

ChrX:154364684

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

CA415241965

rs_1131691935

3 SubmittersRCV000494059 RCV001865554

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

SNV
Germline

ChrX:154360020

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA415222631

rs_1557177663

2 SubmittersRCV000497491 RCV003766799

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

SNV
Germline

ChrX:154364363

Conflicting classifications of pathogenicity

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

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
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

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
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

CA10560094

rs_201396725

4 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
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

CA10560119

rs_370277156

3 SubmittersRCV000504288 RCV001692150 RCV002230985

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

SNV
Germline

ChrX:154359317

Conflicting classifications of pathogenicity

not specified
Heterotopia, periventricular, X-linked dominant
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

CA10560569

rs_782426283

6 SubmittersRCV000504106 RCV000985096 RCV000838677 RCV001085359 RCV002314867

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

SNV
Germline

ChrX:154365247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10561145

rs_782450368

4 SubmittersRCV000503127 RCV001509132 RCV001857098

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

SNV
Germline

ChrX:154368003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10561407

rs_782240483

4 SubmittersRCV000499997 RCV001196653 RCV001764485 RCV002231175

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

SNV
Germline

ChrX:154371221

Conflicting classifications of pathogenicity

not specified
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

CA10561473

rs_782292045

4 SubmittersRCV000501455 RCV002056848 RCV002431459 RCV004541557

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

SNV
Germline

ChrX:154350999

Conflicting classifications of pathogenicity

not specified
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

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

Criteria Provided
Conflicting Classifications

CA519707561

rs_1557177508

2 SubmittersRCV000517801 RCV003766921

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

SNV
Germline

ChrX:154354904

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

Criteria Provided
Conflicting Classifications

CA10560384

rs_782555986

4 SubmittersRCV000520883 RCV001084701 RCV004023535

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

SNV
Germline

ChrX:154359897

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

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

Criteria Provided
Conflicting Classifications

CA415255897

rs_1557180289

2 SubmittersRCV000524050 RCV001857974

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

SNV
Germline

ChrX:154349738

Conflicting classifications of pathogenicity

Hematochezia
Inflammation of the large intestine
Thrombocytopenia
Colitis
Condition: not provided
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337272867

rs_909387820

5 SubmittersRCV000735380 RCV001591231 RCV002232268 RCV002384138

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

SNV
Germline

ChrX:154359407

Likely pathogenic

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

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

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

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

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

Criteria Provided
Conflicting Classifications

CA10560091

rs_782761341

2 SubmittersRCV002231783 RCV003330766

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

SNV
Germline

ChrX:154352883

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337274985

rs_968230475

3 SubmittersRCV000656208 RCV002231782 RCV003332193

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

SNV
Germline

ChrX:154353407

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

CA10560201

rs_190712778

4 SubmittersRCV000532103 RCV001571401 RCV002358505

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

SNV
Germline

ChrX:154359520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10560599

rs_376774130

5 SubmittersRCV000729237 RCV001079000 RCV002314983

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

SNV
Germline

ChrX:154365374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10561155

rs_782765195

2 SubmittersRCV000711667 RCV002231777

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

SNV
Germline

ChrX:154366416

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

CA10561253

rs_201681328

2 SubmittersRCV000537961 RCV001591230

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

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

CA10560616

rs_782746289

3 SubmittersRCV000526244 RCV001786399 RCV003302829

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

SNV
Germline

ChrX:154350159

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

CA10559936

rs_202152952

3 SubmittersRCV000553794 RCV002377082 RCV003480675

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

SNV
Germline

ChrX:154351928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10560021

rs_782275601

5 SubmittersRCV000528311 RCV000764859 RCV003389055 RCV001821546 RCV002367847

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

SNV
Germline

ChrX:154353367

Conflicting classifications of pathogenicity

Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
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.1065G>A (p.Lys355=)

SNV
Germline

ChrX:154366562

Pathogenic

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

Criteria Provided
Single Submitter

CA519709643

rs_1557179325

2 SubmittersRCV000577926 RCV002529037

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

SNV
Germline

ChrX:154361420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10560779

rs_781782783

2 SubmittersRCV000584929 RCV001853959

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

SNV
Germline

ChrX:154360240

Conflicting classifications of pathogenicity

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

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
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

CA10561169

rs_61730768

4 SubmittersRCV000598415 RCV001085228 RCV002317335

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

SNV
Germline

ChrX:154350973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10559957

rs_782591917

5 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
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10559929

rs_782289803

4 SubmittersRCV000595937 RCV000697313 RCV003323625 RCV002315890

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

SNV
Germline

ChrX:154360579

Conflicting classifications of pathogenicity

Condition: not provided
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

CA10560744

rs_782006734

4 SubmittersRCV000727456 RCV001421208 RCV002325135

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

SNV
Germline

ChrX:154351013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10559962

rs_782583650

2 SubmittersRCV000593962 RCV002062106

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

SNV
Germline

ChrX:154366143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10561208

rs_782320818

5 SubmittersRCV000594598 RCV000863539 RCV003437298 RCV004024862

NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys)

SNV
Germline

ChrX:154366126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10561205

rs_782673341

4 SubmittersRCV000939350 RCV001698027 RCV002315931 RCV004544770

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

SNV
Germline

ChrX:154349473

Conflicting classifications of pathogenicity

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

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

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

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

CA415180992

rs_1485769153

2 SubmittersRCV001855278 RCV002313372

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

SNV
Germline

ChrX:154353699

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

Criteria Provided
Conflicting Classifications

CA10560236

rs_367674709

3 SubmittersRCV000728023 RCV001080153 RCV002313356

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

SNV
Germline

ChrX:154354915

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

Criteria Provided
Conflicting Classifications

CA415207674

rs_1557176627

2 SubmittersRCV002232770 RCV002313373

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

SNV
Germline

ChrX:154359342

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

CA10560573

rs_781976719

3 SubmittersRCV001052134 RCV002313358 RCV003238784

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

SNV
Germline

ChrX:154360571

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
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

Heterotopia, periventricular, X-linked dominant
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

CA10560776

rs_781844419

4 SubmittersRCV002246005 RCV001868125 RCV002261135 RCV004025254

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

SNV
Germline

ChrX:154362742

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

CA10560955

rs_371839875

3 SubmittersRCV000704079 RCV002313349 RCV004544811

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

SNV
Germline

ChrX:154364842

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

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

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

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

Criteria Provided
Conflicting Classifications

CA10561207

rs_372113435

4 SubmittersRCV001405516 RCV002264962 RCV003987624 RCV004025253

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

SNV
Germline

ChrX:154349533

Conflicting classifications of pathogenicity

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

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

CA10560685

rs_376726422

2 SubmittersRCV002233039 RCV002458054

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

SNV
Germline

ChrX:154360465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10560726

rs_781917512

3 SubmittersRCV000640803 RCV000728255 RCV002325249

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

SNV
Germline

ChrX:154349380

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10560110

rs_782400832

3 SubmittersRCV000640747 RCV000764862 RCV003238797

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

SNV
Germline

ChrX:154360266

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA337274538

rs_953454766

4 SubmittersRCV000640755 RCV001756067 RCV003387899 RCV004025609

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

SNV
Germline

ChrX:154353914

Likely pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA10560737

rs_369668866

2 SubmittersRCV001332003 RCV002233488

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_367655833

3 SubmittersRCV000659674 RCV003767912 RCV004533445

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

SNV
Germline

ChrX:154359786

Conflicting classifications of pathogenicity

Connective tissue disorder
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

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

Criteria Provided
Conflicting Classifications

rs_782546714

3 SubmittersRCV000659661 RCV001584517 RCV001066358

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

SNV
Germline

ChrX:154365429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782539251

3 SubmittersRCV000659654 RCV001323349 RCV002464284

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

SNV
Germline

ChrX:154359635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1569551635

2 SubmittersRCV000680539 RCV001239792

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

SNV
Germline

ChrX:154366398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782090266

3 SubmittersRCV000808311 RCV000680544 RCV001575087

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

Criteria Provided
Conflicting Classifications

rs_1181500076

3 SubmittersRCV001420603 RCV001653977 RCV002233140

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

SNV
Germline

ChrX:154359846

Pathogenic

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

Criteria Provided
Single Submitter

rs_1557177623

1 SubmittersRCV002233306

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

SNV
Germline

ChrX:154354944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782351877

2 SubmittersRCV001260710 RCV002233446

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

SNV
Germline

ChrX:154361783

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

rs_782451202

2 SubmittersRCV002233562 RCV002440463

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

SNV
Germline

ChrX:154367685

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569551861

2 SubmittersRCV000788202 RCV002232970

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

SNV
Germline

ChrX:154353628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782359458

4 SubmittersRCV001771953 RCV002233235 RCV004527743 RCV004025105

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

SNV
Germline

ChrX:154362417

Pathogenic

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

Criteria Provided
Single Submitter

rs_786205186

1 SubmittersRCV002233328

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

SNV
Germline

ChrX:154367439

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1172505050

2 SubmittersRCV002233659 RCV003159156

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

SNV
Germline

ChrX:154371169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782637786

2 SubmittersRCV002233163 RCV004535709

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

SNV
Germline

ChrX:154354983

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

rs_782469665

2 SubmittersRCV000690268 RCV003736890

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

SNV
Germline

ChrX:154371121

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

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

Criteria Provided
Conflicting Classifications

rs_782129661

2 SubmittersRCV000711673 RCV001325801

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

SNV
Germline

ChrX:154354689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557176526

2 SubmittersRCV003768117 RCV004527757

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

SNV
Germline

ChrX:154364273

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_782066542

4 SubmittersRCV001546023 RCV001862046 RCV002315302 RCV002485809

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

SNV
Germline

ChrX:154354980

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

rs_782751731

2 SubmittersRCV002318681 RCV002534931

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

SNV
Germline

ChrX:154359255

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

Criteria Provided
Conflicting Classifications

rs_192337215

2 SubmittersRCV001060925 RCV002315348

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

SNV
Germline

ChrX:154361541

Conflicting classifications of pathogenicity

9 conditions
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

rs_782445995

3 SubmittersRCV000767980 RCV001484126 RCV002313493

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

SNV
Germline

ChrX:154365139

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

rs_781852373

2 SubmittersRCV001224183 RCV002318721

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

Criteria Provided
Conflicting Classifications

rs_367948333

3 SubmittersRCV001332001 RCV002318784 RCV003768147

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

SNV
Germline

ChrX:154364654

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

Criteria Provided
Conflicting Classifications

rs_782718606

3 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
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
9 conditions

Criteria Provided
Conflicting Classifications

rs_371368679

3 SubmittersRCV002314533 RCV003768132 RCV002477658

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

SNV
Germline

ChrX:154354973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782352193

3 SubmittersRCV000722508 RCV001862119

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

SNV
Germline

ChrX:154366166

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

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

Criteria Provided
Conflicting Classifications

rs_782513930

2 SubmittersRCV000731636 RCV003768214

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

SNV
Germline

ChrX:154364615

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

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
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

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

Criteria Provided
Conflicting Classifications

rs_781928289

4 SubmittersRCV000754796 RCV001219151 RCV002370002 RCV003987692

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

SNV
Germline

ChrX:154352921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781860863

2 SubmittersRCV000756177 RCV001324932

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

SNV
Germline

ChrX:154365454

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782434042

3 SubmittersRCV000756179 RCV001855871

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

SNV
Germline

ChrX:154371226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781814342

3 SubmittersRCV001219313 RCV001577378 RCV004527818

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

SNV
Germline

ChrX:154349820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557175387

2 SubmittersRCV002235900 RCV002285414

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

SNV
Germline

ChrX:154350190

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

rs_782645927

2 SubmittersRCV000804857 RCV001759539

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

SNV
Germline

ChrX:154352574

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_10458342

2 SubmittersRCV002352379 RCV003768508

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

SNV
Germline

ChrX:154355033

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1381802174

2 SubmittersRCV002235442 RCV003442116

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

SNV
Germline

ChrX:154357607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372729831

3 SubmittersRCV001550579 RCV001788358 RCV002235050

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

SNV
Germline

ChrX:154359115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201886752

2 SubmittersRCV002235904 RCV002508261

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

SNV
Germline

ChrX:154361408

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

rs_782758177

2 SubmittersRCV000804267 RCV001592997

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

SNV
Germline

ChrX:154362284

Conflicting classifications of pathogenicity

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

rs_185503240

2 SubmittersRCV000821182 RCV002427058

NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)

SNV
Germline

ChrX:154364119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375038091

3 SubmittersRCV000816539 RCV001561967 RCV002427019

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

SNV
Germline

ChrX:154364551

Conflicting classifications of pathogenicity

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

rs_374295965

2 SubmittersRCV002235075 RCV002422830

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

SNV
Germline

ChrX:154365388

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782698277

2 SubmittersRCV001766707 RCV002234870

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

SNV
Germline

ChrX:154365462

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

rs_781988041

2 SubmittersRCV002274101 RCV002234288

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

SNV
Germline

ChrX:154359483

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_1603360906

1 SubmittersRCV002235125

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

SNV
Germline

ChrX:154364377

Conflicting classifications of pathogenicity

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

rs_782694533

3 SubmittersRCV000861508 RCV002415979 RCV004538179

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

SNV
Germline

ChrX:154352913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782157246

3 SubmittersRCV000864751 RCV001664498 RCV002352524

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

SNV
Germline

ChrX:154357480

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Heterotopia, periventricular, X-linked dominant
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_782495669

3 SubmittersRCV000865430 RCV001539581 RCV003396504

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

SNV
Germline

ChrX:154349560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782244918

2 SubmittersRCV000871844 RCV001766780

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

SNV
Germline

ChrX:154366582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370490152

3 SubmittersRCV002066179 RCV002400070 RCV003332272

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

SNV
Germline

ChrX:154352349

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

rs_782621818

3 SubmittersRCV002363519 RCV000996061 RCV001858827

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

SNV
Germline

ChrX:154353316

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

rs_1483960506

5 SubmittersRCV000996065 RCV001205098 RCV002354903

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

SNV
Germline

ChrX:154358540

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

Criteria Provided
Conflicting Classifications

rs_1324926264

3 SubmittersRCV001000791 RCV001836929 RCV002068759

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

SNV
Germline

ChrX:154349559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781959191

3 SubmittersRCV001061077 RCV003160489 RCV003447576

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

SNV
Germline

ChrX:154349733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782563616

2 SubmittersRCV001065270 RCV001759832

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

SNV
Germline

ChrX:154353654

Pathogenic

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

Criteria Provided
Single Submitter

rs_1359141531

1 SubmittersRCV001061715

NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)

SNV
Germline

ChrX:154365218

Conflicting classifications of pathogenicity

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

rs_782067087

2 SubmittersRCV001050668 RCV002400288

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

SNV
Germline

ChrX:154366077

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

Criteria Provided
Conflicting Classifications

rs_375463904

4 SubmittersRCV001039819 RCV001564098 RCV002379498

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

SNV
Germline

ChrX:154366377

Pathogenic

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

Criteria Provided
Single Submitter

rs_2067760741

1 SubmittersRCV001071657

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

SNV
Germline

ChrX:154366593

Pathogenic

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

Criteria Provided
Single Submitter

rs_2067763458

1 SubmittersRCV001058596

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

SNV
Germline

ChrX:154361789

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2067713488

1 SubmittersRCV001065114

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

SNV
Germline

ChrX:154366561

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2067762985

1 SubmittersRCV001043643

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

SNV
Germline

ChrX:154362516

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557178278

2 SubmittersRCV001195903 RCV003770199

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

SNV
Germline

ChrX:154358448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782460301

2 SubmittersRCV001219915 RCV001813815

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

SNV
Germline

ChrX:154367459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782157170

3 SubmittersRCV001221637 RCV001732079 RCV003490132

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

SNV
Germline

ChrX:154360053

Pathogenic

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

Criteria Provided
Single Submitter

rs_2067693064

1 SubmittersRCV001211252

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

SNV
Germline

ChrX:154361534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_3819330

2 SubmittersRCV001208356 RCV002484125

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

SNV
Germline

ChrX:154349840

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

rs_781788290

2 SubmittersRCV001225484 RCV004032537

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

SNV
Germline

ChrX:154353442

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

rs_1198953814

2 SubmittersRCV001229938 RCV003145437

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

SNV
Germline

ChrX:154357555

Pathogenic

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

Criteria Provided
Single Submitter

rs_781789823

1 SubmittersRCV001232709

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

SNV
Germline

ChrX:154352646

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

rs_782142395

2 SubmittersRCV001243216 RCV003442806

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

SNV
Germline

ChrX:154358243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_190415098

3 SubmittersRCV001247915 RCV001566470 RCV004528438

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

SNV
Germline

ChrX:154366449

Pathogenic

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

Criteria Provided
Single Submitter

rs_2067761804

1 SubmittersRCV001241863

NM_001110556.2(FLNA):c.4474+3G>A

SNV
Germline

ChrX:154358981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1286863443

2 SubmittersRCV001232318 RCV004545140

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

SNV
Germline

ChrX:154354232

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782269425

3 SubmittersRCV001260709 RCV001558240 RCV003770351

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
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

rs_1557176194

2 SubmittersRCV001374498 RCV003770356

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

SNV
Germline

ChrX:154361492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_782689584

2 SubmittersRCV001810698 RCV002541802

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

SNV
Germline

ChrX:154353452

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_930325486

2 SubmittersRCV001300840 RCV002511074

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

SNV
Germline

ChrX:154354988

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781783107

2 SubmittersRCV001307499 RCV002543197

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

SNV
Germline

ChrX:154362673

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782454177

3 SubmittersRCV001309829 RCV002282513 RCV002476433

NM_001110556.2(FLNA):c.720+5A>T

SNV
Germline

ChrX:154367636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1569551860

2 SubmittersRCV001303285 RCV004531087

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

SNV
Germline

ChrX:154371227

Conflicting classifications of pathogenicity

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

rs_941318584

2 SubmittersRCV001300917 RCV004036185

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

SNV
Germline

ChrX:154351613

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371689052

2 SubmittersRCV001314256 RCV001773626

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

SNV
Germline

ChrX:154359550

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_1360400826

2 SubmittersRCV001331936 RCV002546520

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

SNV
Germline

ChrX:154359825

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

rs_781816229

3 SubmittersRCV001336375 RCV001871884 RCV002368114

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

SNV
Germline

ChrX:154349750

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782338659

2 SubmittersRCV001345760 RCV003120574

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

SNV
Germline

ChrX:154354896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557176613

3 SubmittersRCV001347480 RCV001587367 RCV004528475

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

SNV
Germline

ChrX:154359397

Conflicting classifications of pathogenicity

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

rs_2067687057

3 SubmittersRCV001342636 RCV001673047 RCV003294352

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

SNV
Germline

ChrX:154360152

Conflicting classifications of pathogenicity

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

rs_782482207

2 SubmittersRCV001350272 RCV002350656

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

SNV
Germline

ChrX:154362070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782140888

2 SubmittersRCV001349995 RCV003145603

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

SNV
Germline

ChrX:154364338

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1360829798

3 SubmittersRCV001347901 RCV001536582 RCV002419026

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

SNV
Germline

ChrX:154354216

Conflicting classifications of pathogenicity

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

rs_781882457

2 SubmittersRCV001369194 RCV002350709

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

SNV
Germline

ChrX:154362308

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557178198

2 SubmittersRCV001372973 RCV002493899

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

SNV
Germline

ChrX:154365361

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148118126

2 SubmittersRCV001378079 RCV001780283

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

SNV
Germline

ChrX:154367841

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2148119316

1 SubmittersRCV001379671

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

SNV
Germline

ChrX:154361550

Pathogenic

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

Criteria Provided
Single Submitter

rs_1557178045

1 SubmittersRCV001389179

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

SNV
Germline

ChrX:154367887

Pathogenic

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

Criteria Provided
Single Submitter

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
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1603359437

2 SubmittersRCV001419325 RCV003160679

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
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782331362

2 SubmittersRCV001439853 RCV003145663

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

SNV
Germline

ChrX:154359754

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

rs_2148111675

2 SubmittersRCV001471563 RCV003227035

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

SNV
Germline

ChrX:154365140

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

rs_371366175

5 SubmittersRCV001508978 RCV001843589 RCV001882561 RCV002469399

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

SNV
Germline

ChrX:154366422

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781848457

3 SubmittersRCV001509133 RCV003771556

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

SNV
Germline

ChrX:154361561

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782804253

2 SubmittersRCV001513731 RCV002261371

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

SNV
Germline

ChrX:154353299

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

rs_200956777

3 SubmittersRCV001557645 RCV002359171 RCV002032624

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_782772998

3 SubmittersRCV001572051 RCV003323905 RCV002569056

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

SNV
Germline

ChrX:154366746

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

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_1293701269

2 SubmittersRCV001589592 RCV001866123

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

SNV
Germline

ChrX:154354261

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

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

Criteria Provided
Conflicting Classifications

rs_781994403

2 SubmittersRCV001666713 RCV002538585

NM_001110556.2(FLNA):c.1346C>A (p.Thr449Asn)

SNV
Germline

ChrX:154366107

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

rs_1304244536

2 SubmittersRCV001754140 RCV002538728

NM_001110556.2(FLNA):c.1885G>A (p.Gly629Ser)

SNV
Germline

ChrX:154364663

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

rs_1431672096

2 SubmittersRCV001756505 RCV003771911

NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn)

SNV
Germline

ChrX:154364675

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

rs_1557178769

2 SubmittersRCV001757835 RCV002543941

NM_001110556.2(FLNA):c.2726T>C (p.Val909Ala)

SNV
Germline

ChrX:154362079

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

rs_1557178152

2 SubmittersRCV001763522 RCV003771978

NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser)

SNV
Germline

ChrX:154354630

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

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

Criteria Provided
Conflicting Classifications

rs_781962577

2 SubmittersRCV001752495 RCV003772012

NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile)

SNV
Germline

ChrX:154366165

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

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

Criteria Provided
Conflicting Classifications

rs_1557175388

2 SubmittersRCV001763687 RCV002540464

NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)

SNV
Germline

ChrX:154353448

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

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

Criteria Provided
Conflicting Classifications

rs_782043699

2 SubmittersRCV001773174 RCV002544150

NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)

SNV
Germline

ChrX:154360335

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557177750

2 SubmittersRCV001811778 RCV002541359

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
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

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
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_782371876

3 SubmittersRCV001820354 RCV001869716 RCV002397761

NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)

SNV
Germline

ChrX:154351014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557175653

2 SubmittersRCV001817644 RCV002542698

NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)

SNV
Germline

ChrX:154359026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781855364

2 SubmittersRCV001870460 RCV004536377

NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)

SNV
Germline

ChrX:154364318

Conflicting classifications of pathogenicity

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

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
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_781988346

2 SubmittersRCV001906214 RCV002422996

NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)

SNV
Germline

ChrX:154352833

Pathogenic

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

Criteria Provided
Single Submitter

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
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_782082407

2 SubmittersRCV001864658 RCV003382671

NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)

SNV
Germline

ChrX:154350109

Conflicting classifications of pathogenicity

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

rs_782308324

2 SubmittersRCV001882924 RCV002370416

NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)

SNV
Germline

ChrX:154351893

Pathogenic

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

Criteria Provided
Single Submitter

rs_2148103458

1 SubmittersRCV001950812

NM_001110556.2(FLNA):c.7023+1G>T

SNV
Germline

ChrX:154351580

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2148102980

1 SubmittersRCV002010697

NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)

SNV
Germline

ChrX:154364641

Pathogenic

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

Criteria Provided
Single Submitter

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
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376867823

3 SubmittersRCV001943702 RCV003167237

NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)

SNV
Germline

ChrX:154360544

Conflicting classifications of pathogenicity

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

rs_1557177797

2 SubmittersRCV001947187 RCV002324258

NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)

SNV
Germline

ChrX:154358329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782281134

3 SubmittersRCV002042590 RCV002498009 RCV003120800

NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu)

SNV
Germline

ChrX:154371175

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

Criteria Provided
Conflicting Classifications

rs_1350949025

2 SubmittersRCV001944429 RCV004042092

NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)

SNV
Germline

ChrX:154365143

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

Criteria Provided
Conflicting Classifications

rs_781806203

2 SubmittersRCV001933703 RCV002397930

NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser)

SNV
Germline

ChrX:154350040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782189345

2 SubmittersRCV001895675 RCV002252716

NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)

SNV
Germline

ChrX:154348959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781864075

3 SubmittersRCV002031730 RCV002266096 RCV004538751

NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)

SNV
Germline

ChrX:154360553

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

Criteria Provided
Conflicting Classifications

rs_782561908

2 SubmittersRCV002019406 RCV002324466

NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)

SNV
Germline

ChrX:154364890

Pathogenic

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

Criteria Provided
Single Submitter

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
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_200857989

2 SubmittersRCV001885997 RCV004041075

NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp)

SNV
Germline

ChrX:154354672

Conflicting classifications of pathogenicity

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

rs_782147650

2 SubmittersRCV002018609 RCV002346299

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

SNV
Germline

ChrX:154350030

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_1557175424

1 SubmittersRCV002045185

NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)

SNV
Germline

ChrX:154362143

Conflicting classifications of pathogenicity

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

rs_782580568

2 SubmittersRCV001886189 RCV004041178

NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)

SNV
Germline

ChrX:154351689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781910090

3 SubmittersRCV002109062 RCV003313794 RCV003738149

NM_001110556.2(FLNA):c.2405-5C>T

SNV
Germline

ChrX:154362583

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

rs_781892155

3 SubmittersRCV002213977 RCV003146520 RCV002454583

NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser)

SNV
Germline

ChrX:154367679

Pathogenic

Oto-palato-digital syndrome, type II

Criteria Provided
Single Submitter

rs_2148119164

1 SubmittersRCV002238711

NM_001110556.2(FLNA):c.1111G>A (p.Glu371Lys)

SNV
Germline

ChrX:154366425

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557179279

2 SubmittersRCV002244569 RCV003093953

NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp)

SNV
Germline

ChrX:154364116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782330533

2 SubmittersRCV002261667 RCV003095887

NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr)

SNV
Germline

ChrX:154359402

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 SubmittersRCV002333188 RCV003094547

NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)

SNV
Germline

ChrX:154349496

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

2 SubmittersRCV002394175 RCV003099692

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

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
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002464944 RCV002571379

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

SNV
Germline

ChrX:154366417

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002571581 RCV002510211

NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)

SNV
Germline

ChrX:154365226

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

2 SubmittersRCV003077672 RCV003108147

NM_001110556.2(FLNA):c.4455C>T (p.Val1485=)

SNV
Germline

ChrX:154359003

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

2 SubmittersRCV002615928 RCV003143513

NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)

SNV
Germline

ChrX:154366207

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

2 SubmittersRCV002591828 RCV004068871

NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)

SNV
Germline

ChrX:154351919

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002625122 RCV003143526

NM_001110556.2(FLNA):c.4142+17G>A

SNV
Germline

ChrX:154359467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002623887 RCV003317651

NM_001110556.2(FLNA):c.4112A>C (p.Asn1371Thr)

SNV
Germline

ChrX:154359514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002587336 RCV004529154

NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)

SNV
Germline

ChrX:154362313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002671470 RCV003128870

NM_001110556.2(FLNA):c.868+1G>A

SNV
Germline

ChrX:154367396

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002745608 RCV003146613

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
Heterotopia, periventricular, X-linked dominant
Frontometaphyseal dysplasia
Melnick-Needles syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002814367 RCV003777005

NM_001110556.2(FLNA):c.4598+1G>A

SNV
Germline

ChrX:154358444

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002889880

NM_001110556.2(FLNA):c.2405-1G>C

SNV
Germline

ChrX:154362579

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002962362

NM_001110556.2(FLNA):c.2826+20C>T

SNV
Germline

ChrX:154361959

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

2 SubmittersRCV003324059 RCV002988448

NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)

SNV
Germline

ChrX:154366609

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

2 SubmittersRCV002982933 RCV004065226

NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)

SNV
Germline

ChrX:154370936

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

2 SubmittersRCV002994966 RCV003146721

NM_001110556.2(FLNA):c.5150C>T (p.Pro1717Leu)

SNV
Germline

ChrX:154354892

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

2 SubmittersRCV002999899 RCV003327581

NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)

SNV
Germline

ChrX:154371124

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

2 SubmittersRCV003027422 RCV003138453

NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)

SNV
Germline

ChrX:154370966

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003040916

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
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003144010 RCV003778874

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
Frontometaphyseal dysplasia
Oto-palato-digital syndrome, type II

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003171199 RCV003235788 RCV003778991

NM_001110556.2(FLNA):c.3847C>T (p.Arg1283Trp)

SNV
Germline

ChrX:154359864

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

2 SubmittersRCV003329611 RCV003777379

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
FLNA-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003778238 RCV004528049

NM_001110556.2(FLNA):c.374-2A>G

SNV
Germline

ChrX:154368092

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003783797

NM_001110556.2(FLNA):c.5417-2A>G

SNV
Germline

ChrX:154354293

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003783008

NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)

SNV
Germline

ChrX:154349482

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003807755

NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)

SNV
Germline

ChrX:154366443

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003806912 RCV004542278

NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)

SNV
Germline

ChrX:154348863

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003805584

NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)

SNV
Germline

ChrX:154354882