Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)	SNV Germline	Chr10:17041160	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA118423	rs_121434430	4 SubmittersRCV000049749 RCV001093723 RCV005041997
NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile)	SNV Germline	Chr3:146071386	Pathogenic	Bruck syndrome 2	No Assertion Criteria Provided	CA118946	rs_121434459	1 SubmittersRCV000008080
NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val)	SNV Germline	Chr3:146071407	Pathogenic	Bruck syndrome 2	No Assertion Criteria Provided	CA118948	rs_121434460	1 SubmittersRCV000008081
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)	SNV Germline	Chr3:146071416	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter	CA118950	rs_121434461	3 SubmittersRCV000008082
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu)	SNV Germline	ChrX:21868476	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome	No Assertion Criteria Provided	CA121439	rs_122468176	1 SubmittersRCV000012155
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile)	SNV Germline	ChrX:21845207	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome	No Assertion Criteria Provided	CA121440	rs_122468177	1 SubmittersRCV000012156
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His)	SNV Germline	ChrX:21880921	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121441	rs_122468178	4 SubmittersRCV000012157 RCV000081781
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser)	SNV Germline	ChrX:21882519	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome	No Assertion Criteria Provided	CA121442	rs_122468179	1 SubmittersRCV000012158
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu)	SNV Germline	ChrX:21868473	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome	No Assertion Criteria Provided	CA121443	rs_122468180	1 SubmittersRCV000012159
NM_001081.4(CUBN):c.3329+1G>T	SNV Germline	Chr10:17047413	Pathogenic	Imerslund-Grasbeck syndrome type 1	No Assertion Criteria Provided	CA376149956	rs_1205598688	1 SubmittersRCV000023226
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	SNV Germline	Chr17:41817156	Pathogenic/Likely pathogenic	Bruck syndrome 1 Osteogenesis imperfecta Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129381	rs_387906960	5 SubmittersRCV000023609 RCV002281717 RCV001852024
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	SNV Germline	Chr17:41817149	Pathogenic/Likely pathogenic	Bruck syndrome 1 Condition: not provided Osteogenesis imperfecta type 11 Osteogenesis imperfecta Bruck syndrome 1 Osteogenesis imperfecta type 11	Criteria Provided Multiple Submitters No Conflicts	CA130860	rs_397514674	5 SubmittersRCV000034360 RCV003556108 RCV003137556 RCV004579534 RCV005016321
NM_001081.4(CUBN):c.1230+1G>A	SNV Germline	Chr10:17105456	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA144246	rs_386833766	3 SubmittersRCV000049730 RCV005031536
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)	SNV Unknown	Chr10:17103219	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144247	rs_386833767	1 SubmittersRCV000049731
NM_001081.4(CUBN):c.1530G>A (p.Lys510=)	SNV Unknown	Chr10:17103125	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144251	rs_386833769	1 SubmittersRCV000049733
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter)	SNV Unknown	Chr10:17085756	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144256	rs_182512508	1 SubmittersRCV000049736
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val)	SNV Unknown	Chr10:17085639	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144259	rs_386833772	1 SubmittersRCV000049737
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu)	SNV Unknown	Chr10:17071565	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144262	rs_386833773	1 SubmittersRCV000049738
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter)	SNV Unknown	Chr10:17129123	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144265	rs_386833774	1 SubmittersRCV000049739
NM_001081.4(CUBN):c.252+1G>A	SNV Unknown	Chr10:17129120	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144269	rs_386833776	1 SubmittersRCV000049741
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)	SNV Germline	Chr10:17068723	Pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA144271	rs_386833778	3 SubmittersRCV000049743 RCV002490624
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter)	SNV Unknown	Chr10:17068123	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144274	rs_386833779	1 SubmittersRCV000049744
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)	SNV Unknown	Chr10:17065591	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144277	rs_386833780	1 SubmittersRCV000049745
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly)	SNV Unknown	Chr10:17045102	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144281	rs_386833783	1 SubmittersRCV000049747
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)	SNV Unknown	Chr10:17043907	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144284	rs_386833784	1 SubmittersRCV000049748
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)	SNV Germline	Chr10:17041051	Pathogenic	Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Single Submitter	CA144287	rs_386833785	2 SubmittersRCV000049750 RCV004609305
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)	SNV Unknown	Chr10:17019886	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144290	rs_386833786	1 SubmittersRCV000049751
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)	SNV Unknown	Chr10:17019833	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144293	rs_386833787	1 SubmittersRCV000049752
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)	SNV Unknown	Chr10:17123643	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144296	rs_386833788	1 SubmittersRCV000049753
NM_001081.4(CUBN):c.489G>A (p.Lys163=)	SNV Unknown	Chr10:17123588	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144299	rs_386833789	1 SubmittersRCV000049754
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)	SNV Unknown	Chr10:17115518	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144302	rs_386833790	1 SubmittersRCV000049755
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)	SNV Unknown	Chr10:17111045	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA144305	rs_386833791	1 SubmittersRCV000049756
NM_001081.4(CUBN):c.3330-439C>G	SNV Germline	Chr10:17046533	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1	No Assertion Criteria Provided	CA144509	rs_386833782	2 SubmittersRCV000050203 RCV002054879
NM_015884.4(MBTPS2):c.671-9T>G	SNV Germline	ChrX:21868458	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome	No Assertion Criteria Provided	CA151267	rs_587777305	1 SubmittersRCV000114758
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)	SNV Germline	Chr7:94425136	Likely pathogenic	Condition: not provided Bruck syndrome 1	Criteria Provided Single Submitter	CA245593	rs_794727669	2 SubmittersRCV000178479 RCV002469046
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)	SNV Germline	Chr10:17085756	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5425139	rs_182512508	5 SubmittersRCV001105434 RCV000490503 RCV003947690
NM_001081.4(CUBN):c.9236+8A>G	SNV Germline	Chr10:16874366	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5422778	rs_372673718	3 SubmittersRCV000346493 RCV001472287 RCV003949927
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)	SNV Germline	Chr10:16828928	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422328	rs_145909413	3 SubmittersRCV000339747 RCV000395469 RCV002059261
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)	SNV Germline	Chr3:146073298	Conflicting classifications of pathogenicity	Bruck syndrome 2 Osteogenesis imperfecta Condition: not provided	Criteria Provided Conflicting Classifications	CA2654797	rs_558336915	3 SubmittersRCV000329070 RCV002278536 RCV002057849
NM_182943.3(PLOD2):c.616-13T>A	SNV Germline	Chr3:146104355	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2655182	rs_149019740	2 SubmittersRCV000378843 RCV003765986
NM_182943.3(PLOD2):c.471G>A (p.Val157=)	SNV Germline	Chr3:146110316	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2655243	rs_761346369	2 SubmittersRCV000334791 RCV002057850
NM_182943.3(PLOD2):c.2121+14T>C	SNV Germline	Chr3:146071028	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2654679	rs_376009508	3 SubmittersRCV000288228 RCV002057848
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)	SNV Germline	Chr10:16835131	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422431	rs_147730705	2 SubmittersRCV000321124 RCV000861380
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)	SNV Germline	Chr10:16876942	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5422827	rs_41289299	4 SubmittersRCV000259293 RCV000817141 RCV002504053 RCV002522144
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)	SNV Germline	Chr10:17085694	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425122	rs_137892259	2 SubmittersRCV000331535 RCV002520564
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)	SNV Germline	Chr10:16899115	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423013	rs_373893072	3 SubmittersRCV000300282 RCV001502219 RCV003950007
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)	SNV Germline	Chr10:16900832	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423082	rs_149802222	3 SubmittersRCV000328483 RCV000702628 RCV002520551
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)	SNV Germline	Chr10:16904007	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423168	rs_184746130	3 SubmittersRCV000287195 RCV002480084 RCV004609350
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)	SNV Germline	Chr10:16906318	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5423238	rs_138758085	3 SubmittersRCV000395245 RCV002522146 RCV004692899
NM_001081.4(CUBN):c.7210+9A>G	SNV Germline	Chr10:16915812	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5423442	rs_117711403	3 SubmittersRCV000358011 RCV000862185 RCV003736696
NM_001081.4(CUBN):c.5967G>C (p.Val1989=)	SNV Germline	Chr10:16933244	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5423839	rs_139153235	2 SubmittersRCV000262605 RCV001511260
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)	SNV Germline	Chr10:16937656	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423887	rs_181991723	3 SubmittersRCV000389899 RCV002520555 RCV003930256
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)	SNV Germline	Chr10:16937678	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423894	rs_147617753	8 SubmittersRCV000326081 RCV000693099 RCV000507797 RCV001353067 RCV005033863 RCV003409464
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)	SNV Germline	Chr10:16947292	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424067	rs_149164899	3 SubmittersRCV000276516 RCV000638853 RCV004609351
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)	SNV Germline	Chr10:16950008	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424156	rs_200977290	2 SubmittersRCV000265534 RCV000868542
NM_001081.4(CUBN):c.2610A>G (p.Glu870=)	SNV Germline	Chr10:17071441	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424934	rs_143471343	2 SubmittersRCV000406401 RCV005090435
NM_001081.4(CUBN):c.2446+11A>G	SNV Germline	Chr10:17071816	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424986	rs_372125740	2 SubmittersRCV000304885 RCV002520560
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)	SNV Germline	Chr10:17084452	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome Inborn genetic diseases CUBN-related disorder	Criteria Provided Conflicting Classifications	CA10631413	rs_763524933	5 SubmittersRCV000325755 RCV002494936 RCV002520563 RCV002520562 RCV004742377
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)	SNV Germline	Chr10:17114174	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5425512	rs_760990753	5 SubmittersRCV000285948 RCV002487331 RCV002520567 RCV003165810 RCV004021472
NM_001081.4(CUBN):c.735C>T (p.Cys245=)	SNV Germline	Chr10:17114175	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5425513	rs_766772944	3 SubmittersRCV000340804 RCV002520568 RCV004808673
NM_001081.4(CUBN):c.387+13C>T	SNV Germline	Chr10:17126748	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425697	rs_766779196	2 SubmittersRCV000403716 RCV002520570
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)	SNV Germline	Chr10:16836296	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Condition: not provided Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5422474	rs_139596037	6 SubmittersRCV000267153 RCV001797077 RCV000638876 RCV003967858
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)	SNV Germline	Chr10:16836338	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422484	rs_147563157	3 SubmittersRCV000372186 RCV002504052 RCV002520547
NM_001081.4(CUBN):c.9664-9T>G	SNV Germline	Chr10:16841056	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5422628	rs_145383974	4 SubmittersRCV000394267 RCV002059531 RCV003930253 RCV005230235
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)	SNV Germline	Chr10:16851301	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome not specified	Criteria Provided Conflicting Classifications	CA5422662	rs_200457480	3 SubmittersRCV000347378 RCV001518929 RCV005434785
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)	SNV Germline	Chr10:16869823	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422747	rs_200124646	2 SubmittersRCV000354085 RCV002520550
NM_001081.4(CUBN):c.8599-8C>T	SNV Germline	Chr10:16890535	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422976	rs_199774490	2 SubmittersRCV000335207 RCV002059533
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)	SNV Germline	Chr10:16899182	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423026	rs_139990077	3 SubmittersRCV000369045 RCV002059534 RCV003957559
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)	SNV Germline	Chr10:16913835	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5423343	rs_201001705	3 SubmittersRCV000363614 RCV000861215 RCV001531050
NM_001081.4(CUBN):c.7001-4G>A	SNV Germline	Chr10:16916034	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA10635046	rs_886046871	2 SubmittersRCV000259224 RCV002520552
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)	SNV Germline	Chr10:16925687	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Condition: not provided Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA5423703	rs_566060177	4 SubmittersRCV000290525 RCV003387829 RCV004725156 RCV005033861
NM_001081.4(CUBN):c.5926+5G>A	SNV Germline	Chr10:16937587	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5423873	rs_143301088	5 SubmittersRCV000367668 RCV001495663 RCV003920230 RCV003736697
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)	SNV Germline	Chr10:16937722	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5423906	rs_376536525	2 SubmittersRCV000292078 RCV001429079
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)	SNV Germline	Chr10:16948498	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424110	rs_201958183	4 SubmittersRCV000315176 RCV000638855 RCV002487327 RCV004021470
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)	SNV Germline	Chr10:16950012	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 not specified Condition: not provided Imerslund-Grasbeck syndrome CUBN-related disorder Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424158	rs_141640975	9 SubmittersRCV000323051 RCV000508050 RCV000727792 RCV001088899 RCV003930257 RCV005033866
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)	SNV Germline	Chr10:17045075	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424618	rs_141740096	3 SubmittersRCV000272974 RCV000638862 RCV003930258
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)	SNV Germline	Chr10:17046068	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424685	rs_141164907	6 SubmittersRCV000324630 RCV000861038 RCV001570785 RCV004742375
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)	SNV Germline	Chr10:17088185	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425161	rs_201938886	2 SubmittersRCV000385645 RCV000865087
NM_001081.4(CUBN):c.1111+5T>C	SNV Germline	Chr10:17109635	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5425407	rs_199662739	3 SubmittersRCV000309033 RCV001308314 RCV003897679
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)	SNV Germline	Chr10:16851280	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA10635360	rs_559567467	2 SubmittersRCV000287793 RCV001067020
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)	SNV Germline	Chr10:16851373	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422678	rs_199499934	2 SubmittersRCV000303291 RCV002059532
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)	SNV Germline	Chr10:17019909	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424491	rs_199763912	2 SubmittersRCV000352129 RCV002059535
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)	SNV Germline	Chr10:17047491	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5424721	rs_142560894	4 SubmittersRCV000261165 RCV000860991 RCV003967859 RCV003417965
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)	SNV Germline	Chr10:17068740	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Inborn genetic diseases Condition: not provided CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424906	rs_138545198	6 SubmittersRCV000344707 RCV001850582 RCV002520557 RCV004584664 RCV003920232
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)	SNV Germline	Chr10:17084369	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5425053	rs_370770104	4 SubmittersRCV000264699 RCV001203886 RCV002520561 RCV002504055
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)	SNV Germline	Chr10:17100089	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 not specified Imerslund-Grasbeck syndrome Inborn genetic diseases CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5425221	rs_147449194	5 SubmittersRCV000278473 RCV000594315 RCV001474062 RCV002520565 RCV003930262
NM_001081.4(CUBN):c.489+14T>C	SNV Germline	Chr10:17123574	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA10635433	rs_886046882	2 SubmittersRCV000346774 RCV002520569
NM_001081.4(CUBN):c.349-9T>C	SNV Germline	Chr10:17126808	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425704	rs_375431948	2 SubmittersRCV000307250 RCV001478067
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	SNV Germline	Chr17:41818217	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 11 Condition: not provided Bruck syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8566264	rs_140950528	5 SubmittersRCV000352068 RCV002522960 RCV001329235 RCV004021702
NM_001081.4(CUBN):c.3G>T (p.Met1Ile)	SNV Germline	Chr10:17129763	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5425815	rs_11254385	4 SubmittersRCV000413849 RCV001438020 RCV005044630
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	SNV Germline	Chr3:146071125	Pathogenic/Likely pathogenic	9 conditions Condition: not provided Bruck syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA16043397	rs_780770356	5 SubmittersRCV000415250 RCV000627278 RCV001782894
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)	SNV Germline	Chr3:146079255	Conflicting classifications of pathogenicity	9 conditions not specified Condition: not provided Bruck syndrome 2	Criteria Provided Conflicting Classifications	CA2654910	rs_778360818	4 SubmittersRCV000415031 RCV004689730 RCV001861447 RCV004786681
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)	SNV Germline	Chr10:17068640	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA5424879	rs_148869805	6 SubmittersRCV001083838 RCV001106472 RCV000507264 RCV002252145
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)	SNV Germline	Chr10:16888428	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 CUBN-related disorder not specified	Criteria Provided Conflicting Classifications	CA5422883	rs_117620008	8 SubmittersRCV000766837 RCV001029961 RCV001106016 RCV003403188 RCV005418180
NM_001081.4(CUBN):c.382C>T (p.Gln128Ter)	SNV Germline	Chr10:17126766	Pathogenic/Likely pathogenic	Condition: not provided Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376169069	rs_374695194	2 SubmittersRCV000585217 RCV003611520
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)	SNV Germline	Chr10:17103149	Pathogenic/Likely pathogenic	Condition: not provided Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA5425267	rs_145818316	2 SubmittersRCV000597860 RCV002476318
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)	SNV Germline	Chr10:16877035	Conflicting classifications of pathogenicity	not specified Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5422845	rs_115888073	7 SubmittersRCV000596622 RCV001106014 RCV000862571 RCV003945422 RCV004024812 RCV004707355
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	SNV Germline	Chr10:16876950	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Condition: not provided CUBN-related disorder Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5422829	rs_370778353	9 SubmittersRCV000625649 RCV001095374 RCV002223233 RCV004742540 RCV005034198
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter)	SNV Germline	Chr10:16904073	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376142712	rs_1554790861	2 SubmittersRCV000625850
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp)	SNV Germline	Chr10:17100212	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5425241	rs_564637804	3 SubmittersRCV000638854 RCV005034212 RCV004975738
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)	SNV Germline	Chr10:16877060	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5422851	rs_767131065	3 SubmittersRCV000638858 RCV001106015 RCV005034213
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)	SNV Germline	Chr10:16982510	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424315	rs_140970422	6 SubmittersRCV000658122 RCV001087887 RCV001105249 RCV003907922
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)	SNV Germline	Chr10:16933191	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423827	rs_140202552	4 SubmittersRCV000694238 RCV002485672 RCV003334003 RCV004025185
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	SNV Germline	Chr10:16940152	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Autism spectrum disorder CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5424004	rs_143944436	10 SubmittersRCV000705555 RCV001547777 RCV001536070 RCV003313972 RCV003918139
NM_001081.4(CUBN):c.348+2T>C	SNV Germline	Chr10:17127827	Likely pathogenic	Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA5425727	rs_146047781	3 SubmittersRCV000693751 RCV001784320 RCV005046943
NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter)	SNV Germline	Chr10:16940050	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376157143	rs_1564435943	1 SubmittersRCV000702873
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)	SNV Germline	Chr10:16984171	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA5424383	rs_145661597	5 SubmittersRCV000698044 RCV004721561 RCV005034310 RCV005357933
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)	SNV Germline	Chr10:16906209	Pathogenic	Imerslund-Grasbeck syndrome Condition: not provided CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5423214	rs_137998687	4 SubmittersRCV000690027 RCV001797127 RCV004742573
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)	SNV Germline	Chr10:17041118	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA203600387	rs_1037514591	3 SubmittersRCV000700444 RCV002533589 RCV002507220
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)	SNV Germline	Chr13:20189056	Pathogenic	IFAP syndrome 1, with or without BRESHECK syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6904245	rs_781767722	2 SubmittersRCV000766235 RCV002534992
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)	SNV Germline	Chr10:16840413	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA376123649	rs_1564379463	1 SubmittersRCV000735733
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)	SNV Germline	Chr10:16840440	Likely pathogenic	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 CUBN-related disorder	Criteria Provided Single Submitter	CA5422545	rs_752843169	3 SubmittersRCV000735723 RCV002493368 RCV003975295
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)	SNV Germline	Chr10:16851374	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA5422679	rs_368697251	3 SubmittersRCV000735728 RCV005036079
NM_001081.4(CUBN):c.5549-2A>C	SNV Germline	Chr10:16939149	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA376156610	rs_1564435513	1 SubmittersRCV000735762
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)	SNV Germline	Chr10:17045951	Likely pathogenic; Affects	Imerslund-Grasbeck syndrome Proteinuria, chronic benign	No Assertion Criteria Provided	CA376149177	rs_1564492988	2 SubmittersRCV000735780 RCV001095375
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)	SNV Germline	Chr10:16954407	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA5424245	rs_769881615	2 SubmittersRCV000778277 RCV005036096
NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr)	SNV Germline	Chr10:16874444	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5422793	rs_569915247	2 SubmittersRCV000811423 RCV004028725
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)	SNV Germline	Chr10:17045033	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Condition: not provided Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424614	rs_145881708	4 SubmittersRCV000803662 RCV001759533 RCV002501081 RCV002534760
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala)	SNV Germline	Chr10:17046033	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Condition: not provided Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424681	rs_201138390	4 SubmittersRCV000794885 RCV001759499 RCV004027506 RCV005036140
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)	SNV Germline	Chr10:16933116	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5423810	rs_201720797	6 SubmittersRCV000857246 RCV001776065 RCV003236590 RCV005036241
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)	SNV Germline	Chr10:16828994	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422347	rs_145569358	2 SubmittersRCV001102845 RCV002062242
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)	SNV Germline	Chr10:16840360	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5422527	rs_147330179	4 SubmittersRCV000860975 RCV002275164 RCV003955568 RCV004707419
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)	SNV Germline	Chr10:16876925	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5422824	rs_140524729	3 SubmittersRCV000861451 RCV001104851 RCV003413673
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)	SNV Germline	Chr10:16918773	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5423535	rs_373804380	2 SubmittersRCV000864952 RCV001105058
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)	SNV Germline	Chr10:17104600	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5425329	rs_201404467	3 SubmittersRCV001106581 RCV001439376 RCV003948124
NM_001081.4(CUBN):c.6822-6C>T	SNV Germline	Chr10:16918806	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 CUBN-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423545	rs_762758607	4 SubmittersRCV001418282 RCV002495251 RCV003965697 RCV004027654
NM_001081.4(CUBN):c.6125-5C>T	SNV Germline	Chr10:16928308	Conflicting classifications of pathogenicity	Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5423791	rs_767744034	2 SubmittersRCV005036252 RCV005092718
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)	SNV Germline	Chr3:146079165	Conflicting classifications of pathogenicity	Condition: not provided not specified Bruck syndrome 2	Criteria Provided Conflicting Classifications	CA2654892	rs_142909885	4 SubmittersRCV000930681 RCV003317400 RCV001147125
NM_021939.4(FKBP10):c.1256+8C>G	SNV Germline	Chr17:41820469	Conflicting classifications of pathogenicity	Condition: not provided Bruck syndrome 1 FKBP10-related disorder	Criteria Provided Conflicting Classifications	CA915950011	rs_1206061120	3 SubmittersRCV000942760 RCV001332421 RCV003978123
NM_001081.4(CUBN):c.4350+5G>A	SNV Germline	Chr10:16990329	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424418	rs_200324164	3 SubmittersRCV000983940 RCV001251509 RCV003972996
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)	SNV Germline	Chr3:146081816	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA84513472	rs_893004444	4 SubmittersRCV000995609 RCV001858817 RCV005438050
NM_001081.4(CUBN):c.7534-1G>T	SNV Germline	Chr10:16907680	Likely pathogenic	Imerslund-Grasbeck syndrome	No Assertion Criteria Provided	CA376144814	rs_1588639188	1 SubmittersRCV001029867
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	SNV Germline	Chr10:16933123	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5423816	rs_374417889	6 SubmittersRCV001029890 RCV001784565 RCV002497349 RCV003928668
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)	SNV Germline	Chr10:16835131	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376121234	rs_147730705	1 SubmittersRCV001037142
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)	SNV Germline	Chr10:16915053	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA5423415	rs_557208468	1 SubmittersRCV001040296
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)	SNV Germline	Chr10:17068178	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5424832	rs_147955566	3 SubmittersRCV001064135 RCV004030524 RCV005036369
NM_001081.4(CUBN):c.7001-2A>T	SNV Germline	Chr10:16916032	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376146983	rs_2131458620	1 SubmittersRCV001054115
NM_021939.4(FKBP10):c.391+1G>A	SNV Germline	Chr17:41817204	Pathogenic	Bruck syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8566210	rs_141847881	3 SubmittersRCV001260285 RCV003660842
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	SNV Germline	Chr10:17110924	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Condition: not provided Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA5425453	rs_202153130	8 SubmittersRCV001095371 RCV001811645 RCV002555971 RCV002489738 RCV004609623
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)	SNV Germline	Chr10:17046089	Pathogenic	Imerslund-Grasbeck syndrome type 1	No Assertion Criteria Provided	CA376149791	rs_2131820786	1 SubmittersRCV001095372
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)	SNV Germline	Chr10:16828840	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422310	rs_139051724	2 SubmittersRCV001108059 RCV001475867
NM_001081.4(CUBN):c.10293C>T (p.His3431=)	SNV Germline	Chr10:16835083	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA468299089	rs_1266678482	2 SubmittersRCV001102846 RCV003505164
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)	SNV Germline	Chr10:16869755	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 CUBN-related disorder Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5422733	rs_150985118	4 SubmittersRCV001102939 RCV004743291 RCV002069715 RCV005540276
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)	SNV Germline	Chr10:16906278	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5423230	rs_144626884	6 SubmittersRCV001106115 RCV002069748 RCV003928707 RCV003480958
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)	SNV Germline	Chr10:16913889	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5423357	rs_144942741	2 SubmittersRCV001103146 RCV002069717
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)	SNV Germline	Chr10:16940183	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424011	rs_147772422	2 SubmittersRCV001106286 RCV002556085
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)	SNV Germline	Chr10:16954504	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424266	rs_200115233	2 SubmittersRCV001105248 RCV002069735
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)	SNV Germline	Chr10:17045075	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424617	rs_141740096	3 SubmittersRCV001103416 RCV002069719 RCV003906196
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)	SNV Germline	Chr10:17045184	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424644	rs_143531829	2 SubmittersRCV001103418 RCV001521980
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)	SNV Germline	Chr10:17068140	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424821	rs_369981313	5 SubmittersRCV001105345 RCV002558052 RCV001856416 RCV002497514 RCV003928705
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)	SNV Germline	Chr10:17068723	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5424902	rs_386833778	4 SubmittersRCV001106473 RCV001873508 RCV003953478 RCV003413919
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)	SNV Germline	Chr10:17105457	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5425357	rs_144627803	3 SubmittersRCV001108754 RCV001856452 RCV003883554
NM_001081.4(CUBN):c.879A>G (p.Pro293=)	SNV Germline	Chr10:17114031	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425489	rs_142466038	2 SubmittersRCV001103592 RCV003611547
NM_001081.4(CUBN):c.483G>A (p.Gln161=)	SNV Germline	Chr10:17123594	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425655	rs_371508247	2 SubmittersRCV001105538 RCV001445665
NM_001081.4(CUBN):c.165G>A (p.Thr55=)	SNV Germline	Chr10:17129208	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425771	rs_370127775	2 SubmittersRCV001106681 RCV001862858
NM_001081.4(CUBN):c.5343-11C>T	SNV Germline	Chr10:16940248	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5424029	rs_777975604	2 SubmittersRCV001106287 RCV002558067
NM_001081.4(CUBN):c.348+10A>G	SNV Germline	Chr10:17127819	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5425724	rs_373954000	3 SubmittersRCV001106680 RCV001470489 RCV003953479
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)	SNV Germline	Chr3:146071060	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2654686	rs_555534138	2 SubmittersRCV001145157 RCV002070753
NM_182943.3(PLOD2):c.1744-11A>G	SNV Germline	Chr3:146072676	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2654778	rs_376704588	3 SubmittersRCV001145160 RCV001760103
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter)	SNV Germline	Chr10:16900642	Pathogenic	Condition: not provided Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376140997	rs_1841332247	2 SubmittersRCV001169854 RCV003505165
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)	SNV Germline	Chr10:16915936	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA5423458	rs_374538208	2 SubmittersRCV001205838 RCV002497701
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)	SNV Germline	Chr10:17071968	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA5425011	rs_776704427	1 SubmittersRCV001206326
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)	SNV Germline	Chr10:17115488	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA376166461	rs_1461982823	2 SubmittersRCV001212584 RCV002491652
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)	SNV Germline	Chr10:16840334	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5422521	rs_150358307	4 SubmittersRCV001315141 RCV002486235 RCV003166803 RCV005423966
NM_001081.4(CUBN):c.6821+2T>C	SNV Germline	Chr10:16919961	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Condition: not provided CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423571	rs_150901286	5 SubmittersRCV001322176 RCV001535839 RCV001780247 RCV004743403
NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)	SNV Germline	Chr10:16869645	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035350
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)	SNV Germline	Chr10:16831318	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA5422375	rs_201426128	2 SubmittersRCV001388387 RCV002499808
NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter)	SNV Germline	Chr10:16915980	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376146794	rs_2131458386	1 SubmittersRCV001388462
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser)	SNV Germline	Chr10:17068121	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424814	rs_200851536	3 SubmittersRCV001463448 RCV002561263 RCV004743510
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)	SNV Unknown	Chr10:16890371	Likely pathogenic	Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter	CA5422930	rs_370038232	1 SubmittersRCV001536056
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)	SNV Germline	Chr10:16899131	Pathogenic	Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5423017	rs_759203841	2 SubmittersRCV001536060 RCV002568229
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)	SNV Unknown	Chr10:17114114	Pathogenic	Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter	CA376165591	rs_1161400848	1 SubmittersRCV001536066
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His)	SNV Germline	Chr10:16920111	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5423608	rs_140862613	2 SubmittersRCV001576426 RCV002072264
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)	SNV Germline	Chr10:17043910	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424577	rs_151039810	6 SubmittersRCV001730252 RCV002538701 RCV001861030 RCV005038285
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)	SNV Germline	Chr10:16828957	Pathogenic/Likely pathogenic	Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5422333	rs_756614749	3 SubmittersRCV001780594 RCV002478008 RCV003505186
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	SNV Germline	Chr10:16835143	Pathogenic	Condition: not provided Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA203537464	rs_144484373	4 SubmittersRCV001780595 RCV001868833 RCV002272497 RCV005040373
NM_182943.3(PLOD2):c.1483C>T (p.Arg495Ter)	SNV Germline	Chr3:146079133	Pathogenic/Likely pathogenic	Bruck syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354888260	rs_1436930576	3 SubmittersRCV001782659 RCV003128791
NM_001081.4(CUBN):c.4350+2T>C	SNV Germline	Chr10:16990332	Likely pathogenic	Condition: not provided Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA203572988	rs_371489485	3 SubmittersRCV001797261 RCV002541305 RCV005040384
NM_001081.4(CUBN):c.6821+3A>G	SNV Germline	Chr10:16919960	Pathogenic/Likely pathogenic	Proteinuria, chronic benign Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5423570	rs_767078847	4 SubmittersRCV001807894 RCV002478041 RCV004801054
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)	SNV Germline	ChrX:152850421	Conflicting classifications of pathogenicity	not specified Condition: not provided CK syndrome Child syndrome	Criteria Provided Conflicting Classifications	CA10544735	rs_145580873	3 SubmittersRCV001819171 RCV003574889 RCV002482358
NM_015922.3(NSDHL):c.44G>A (p.Arg15Gln)	SNV Germline	ChrX:152846368	Conflicting classifications of pathogenicity	CK syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10544701	rs_200748828	2 SubmittersRCV001837326 RCV003688950
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)	SNV Germline	Chr10:16928217	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423765	rs_567146793	3 SubmittersRCV001974150 RCV002492211 RCV005552576
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)	SNV Germline	Chr10:16952338	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424214	rs_538984401	3 SubmittersRCV001870993 RCV002490054 RCV002551631
NM_182943.3(PLOD2):c.1045A>G (p.Lys349Glu)	SNV Germline	Chr3:146086869	Conflicting classifications of pathogenicity	Condition: not provided Bruck syndrome 2	Criteria Provided Conflicting Classifications	CA84518517	rs_368727638	2 SubmittersRCV001992475 RCV004720346
NM_001081.4(CUBN):c.424C>T (p.Gln142Ter)	SNV Germline	Chr10:17123653	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376168807	rs_765941616	1 SubmittersRCV001992370
NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter)	SNV Germline	Chr10:16906313	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376143354	rs_1841554531	1 SubmittersRCV001955924
NM_015922.3(NSDHL):c.790-9T>A	SNV Germline	ChrX:152868775	Conflicting classifications of pathogenicity	Condition: not provided Child syndrome CK syndrome	Criteria Provided Conflicting Classifications	CA873244027	rs_1323999679	2 SubmittersRCV002042724 RCV005042670
NM_001081.4(CUBN):c.1418-9C>A	SNV Germline	Chr10:17103246	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5425286	rs_779016475	2 SubmittersRCV002015670 RCV002486624
NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln)	SNV Germline	Chr10:17043832	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424562	rs_755862991	2 SubmittersRCV001887215 RCV004975798
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys)	SNV Germline	Chr10:17068149	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424824	rs_199835213	2 SubmittersRCV001985607 RCV003289312
NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr17:41822280	Pathogenic/Likely pathogenic	Condition: not provided Bruck syndrome 1 Osteogenesis imperfecta type 11	Criteria Provided Multiple Submitters No Conflicts	CA8566710	rs_782682320	3 SubmittersRCV002001645 RCV005017026
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu)	SNV Germline	Chr10:16913836	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423344	rs_140983139	3 SubmittersRCV002085157 RCV005042723 RCV005542705
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)	SNV Germline	Chr10:16825013	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Condition: not provided CUBN-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5422277	rs_151134377	4 SubmittersRCV002092369 RCV002473352 RCV003948886 RCV005321103
NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro)	SNV Germline	Chr17:41813213	Likely pathogenic	Bruck syndrome 1	Criteria Provided Single Submitter	CA399513716	rs_2144041758	1 SubmittersRCV002244230
NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter)	SNV Germline	Chr17:41813158	Pathogenic	Bruck syndrome 1	Criteria Provided Single Submitter	CA399513531	rs_2144041488	1 SubmittersRCV002250878
NM_182943.3(PLOD2):c.648C>A (p.Cys216Ter)	SNV Germline	Chr3:146104310	Pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter	CA354894483	rs_2108057452	1 SubmittersRCV002267184
NM_001081.4(CUBN):c.2792-1G>T	SNV Germline	Chr10:17068281	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter	CA376156638	rs_2131845016	1 SubmittersRCV002272122
NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)	SNV Germline	Chr3:146071314	Conflicting classifications of pathogenicity	Bruck syndrome 2 Osteogenesis imperfecta Condition: not provided	Criteria Provided Conflicting Classifications	CA84500173	rs_967744523	3 SubmittersRCV002283921 RCV005239348 RCV003096377
NM_015922.3(NSDHL):c.796C>T (p.His266Tyr)	SNV Germline	ChrX:152868790	Conflicting classifications of pathogenicity	Child syndrome CK syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA415287049	rs_2521816926	2 SubmittersRCV004725288 RCV002461708
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)	SNV Germline	Chr10:16947259	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA203590625	rs_776483762	2 SubmittersRCV002569382 RCV004785736
NM_001081.4(CUBN):c.6822-1G>A	SNV Germline	Chr10:16918801	Likely pathogenic	Imerslund-Grasbeck syndrome Proteinuria, chronic benign CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA376148462	rs_1353402674	3 SubmittersRCV003076464 RCV003236596 RCV003410060
NM_001081.4(CUBN):c.8063-1G>A	SNV Germline	Chr10:16901460	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376141809	rs_1431973744	1 SubmittersRCV003074441
NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)	SNV Germline	Chr10:16869655	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5422714	rs_375276752	3 SubmittersRCV003061217 RCV005363002 RCV005323322
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)	SNV Germline	Chr10:16954406	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome Inborn genetic diseases CUBN-related disorder Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5424243	rs_147343635	6 SubmittersRCV003149048 RCV003079265 RCV004614336 RCV004744565 RCV005034642
NM_001081.4(CUBN):c.10033-1G>A	SNV Germline	Chr10:16836383	Likely pathogenic	Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5422496	rs_765616473	2 SubmittersRCV003090727 RCV003404063
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)	SNV Germline	Chr10:17071600	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424968	rs_768531445	2 SubmittersRCV003092922 RCV005034688
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)	SNV Germline	Chr10:16950003	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424151	rs_372361501	3 SubmittersRCV003082304 RCV004073113 RCV005034681
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)	SNV Germline	Chr10:17068206	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5424837	rs_141859334	4 SubmittersRCV002596308 RCV004614376 RCV003143509 RCV005034757
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)	SNV Germline	Chr10:16984264	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 CUBN-related disorder Inborn genetic diseases Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5424392	rs_377730376	5 SubmittersRCV002606213 RCV005052007 RCV003963676 RCV004068942 RCV005034742
NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)	SNV Germline	Chr10:17068670	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5424887	rs_774486522	2 SubmittersRCV002624550 RCV004614390
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)	SNV Germline	Chr10:16825012	Conflicting classifications of pathogenicity	Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5422276	rs_142120325	3 SubmittersRCV004244620 RCV005036664 RCV003121526
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)	SNV Germline	Chr10:17068202	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424836	rs_748865271	3 SubmittersRCV002582600 RCV004064371 RCV005032302
NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)	SNV Germline	Chr10:17068617	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA376157012	rs_1400804891	2 SubmittersRCV002573010 RCV004612184
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)	SNV Germline	Chr10:16925682	Conflicting classifications of pathogenicity	Inborn genetic diseases Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Condition: not provided	Criteria Provided Conflicting Classifications	CA5423700	rs_140117869	4 SubmittersRCV002614515 RCV002614514 RCV005032356 RCV005623484
NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)	SNV Germline	Chr10:16938995	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376155936	rs_2491536970	1 SubmittersRCV002885016
NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)	SNV Germline	ChrX:152868836	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Child syndrome CK syndrome	Criteria Provided Conflicting Classifications	CA10544859	rs_782143078	3 SubmittersRCV002932634 RCV002932633 RCV005045058
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)	SNV Germline	Chr10:17103228	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5425282	rs_756449782	3 SubmittersRCV002938998 RCV004067259 RCV005034507
NM_001081.4(CUBN):c.4969+2T>G	SNV Germline	Chr10:16952274	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA203594668	rs_967367446	1 SubmittersRCV003038209
NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)	SNV Germline	Chr10:16877002	Conflicting classifications of pathogenicity	Inborn genetic diseases Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5422839	rs_772487756	2 SubmittersRCV002859234 RCV005036568
NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)	SNV Germline	Chr10:16928283	Conflicting classifications of pathogenicity	Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5423783	rs_141319759	2 SubmittersRCV002692914 RCV005036613
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)	SNV Unknown	ChrX:21851597	Conflicting classifications of pathogenicity	Keratosis follicularis spinulosa decalvans, X-linked Osteogenesis imperfecta, type 19 Olmsted syndrome, X-linked IFAP syndrome 1, with or without BRESHECK syndrome MBTPS2-related disorder	Criteria Provided Conflicting Classifications	CA412562808	rs_2519561020	2 SubmittersRCV003148094 RCV003148097 RCV003148096 RCV003148095 RCV005430864
NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr3:146081778	Pathogenic/Likely pathogenic	Bruck syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2654932	rs_778254905	3 SubmittersRCV005036735 RCV003319893
NM_182943.3(PLOD2):c.1872T>G (p.Tyr624Ter)	SNV Germline	Chr3:146071400	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter	CA354883573	rs_1248510301	1 SubmittersRCV003330303
NM_001081.4(CUBN):c.4351-1G>C	SNV Germline	Chr10:16984280	Likely pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter	CA376145019	rs_2491711751	1 SubmittersRCV003337777
NM_001081.4(CUBN):c.349-6T>A	SNV Germline	Chr10:17126805	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA468307229	rs_1837201696	2 SubmittersRCV003481966 RCV005100296
NM_001081.4(CUBN):c.3829+1G>A	SNV Germline	Chr10:17043826	Pathogenic/Likely pathogenic	Condition: not provided Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376147466	rs_1349644537	2 SubmittersRCV003480442 RCV003611657
NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)	SNV Germline	Chr10:16925397	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Condition: not provided CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423653	rs_199915629	4 SubmittersRCV003506006 RCV004369035 RCV004697299 RCV004741619
NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)	SNV Germline	Chr10:16831260	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376120431	rs_1237603270	1 SubmittersRCV003506145
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)	SNV Germline	Chr10:16874381	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome CUBN-related disorder Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5422781	rs_372853086	4 SubmittersRCV003506416 RCV003966520 RCV005036876 RCV005554976
NM_001081.4(CUBN):c.8755+2T>C	SNV Germline	Chr10:16890369	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA5422927	rs_375789806	1 SubmittersRCV003506515
NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)	SNV Germline	Chr10:16933093	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA5423804	rs_770636895	1 SubmittersRCV003506570
NM_001081.4(CUBN):c.884-1G>A	SNV Germline	Chr10:17111051	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376164790	rs_2492087728	1 SubmittersRCV003505714
NM_001081.4(CUBN):c.1015+1G>A	SNV Germline	Chr10:17110918	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA5425451	rs_192997971	1 SubmittersRCV003612498
NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)	SNV Germline	Chr10:17045101	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376148566	rs_2491943944	1 SubmittersRCV003613509
NM_021939.4(FKBP10):c.1563+1G>A	SNV Germline	Chr17:41821818	Pathogenic/Likely pathogenic	Condition: not provided Bruck syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA399518986	rs_2144069621	2 SubmittersRCV003715539 RCV004798056
NM_001081.4(CUBN):c.5342+20G>A	SNV Germline	Chr10:16947215	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424043	rs_550781850	2 SubmittersRCV003612019 RCV005036992
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)	SNV Germline	Chr10:16925737	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications	CA5423717	rs_558139194	2 SubmittersRCV003612323 RCV005037021
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)	SNV Germline	Chr10:16925770	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA5423725	rs_146319349	2 SubmittersRCV003814973 RCV005038533
NM_001081.4(CUBN):c.9237-1G>C	SNV Germline	Chr10:16869854	Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts	CA376128666	rs_1343581366	2 SubmittersRCV003861804 RCV005038597
NM_001081.4(CUBN):c.10528+1G>A	SNV Germline	Chr10:16831251	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter	CA376120414	rs_2491125172	1 SubmittersRCV003873522
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)	SNV Germline	Chr10:17122797	Pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter	CA376168385	rs_2492138978	1 SubmittersRCV004515787
NM_182943.3(PLOD2):c.1848+1G>T	SNV Germline	Chr3:146072560	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter	CA354884140	rs_2473220795	1 SubmittersRCV003990202
NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)	SNV Germline	Chr10:17068186	Conflicting classifications of pathogenicity	Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5424834	rs_146730713	2 SubmittersRCV004375201 RCV005038648
NM_001081.4(CUBN):c.5927-1G>A	SNV Germline	Chr10:16933285	Likely pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter		rs_2491510569	1 SubmittersRCV004566413
NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)	SNV Germline	Chr10:17019959	Pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter	CA376142526	rs_2491869860	1 SubmittersRCV004555255
NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)	SNV Germline	ChrX:152846343	Conflicting classifications of pathogenicity	Inborn genetic diseases CK syndrome Child syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004650505 RCV005040738
NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)	SNV Germline	Chr10:17084271	Pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004696586
NM_182943.3(PLOD2):c.1754A>T (p.Asp585Val)	SNV Germline	Chr3:146072655	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV004765443
NM_001081.4(CUBN):c.3173C>T (p.Thr1058Ile)	SNV Germline	Chr10:17047570	Conflicting classifications of pathogenicity	Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications			2 SubmittersRCV004979389 RCV005040837
NM_021939.4(FKBP10):c.726T>G (p.Tyr242Ter)	SNV Germline	Chr17:41818526	Likely pathogenic	Bruck syndrome 1 Osteogenesis imperfecta type 11	Criteria Provided Single Submitter			1 SubmittersRCV005020220
NM_021939.4(FKBP10):c.1400-1G>T	SNV Germline	Chr17:41821653	Likely pathogenic	Bruck syndrome 1 Osteogenesis imperfecta type 11	Criteria Provided Single Submitter			1 SubmittersRCV005020223
NM_021939.4(FKBP10):c.1564-2A>T	SNV Germline	Chr17:41822221	Likely pathogenic	Bruck syndrome 1 Osteogenesis imperfecta type 11	Criteria Provided Single Submitter			1 SubmittersRCV005020225
NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)	SNV Germline	Chr10:16869803	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035377
NM_001081.4(CUBN):c.9236+5G>C	SNV Germline	Chr10:16874369	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Proteinuria	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043191 RCV005626933
NM_001081.4(CUBN):c.8756-2A>G	SNV Germline	Chr10:16888568	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035515
NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)	SNV Germline	Chr10:16890419	Pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035534
NM_001081.4(CUBN):c.8598+1G>T	SNV Germline	Chr10:16898995	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035583
NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)	SNV Germline	Chr10:16899101	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005043279
NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)	SNV Germline	Chr10:16900681	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035614
NM_182943.3(PLOD2):c.1359-1G>A	SNV Germline	Chr3:146079258	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005031279
NM_182943.3(PLOD2):c.502G>T (p.Gly168Ter)	SNV Germline	Chr3:146110285	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005031280
NM_182943.3(PLOD2):c.202-2A>G	SNV Germline	Chr3:146121250	Likely pathogenic	Bruck syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005031281
NM_001081.4(CUBN):c.10120A>G (p.Ile3374Val)	SNV Germline	Chr10:16836295	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005033255 RCV005555148
NM_001081.4(CUBN):c.9664-2A>C	SNV Germline	Chr10:16841049	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005033321
NM_001081.4(CUBN):c.9454+1G>A	SNV Germline	Chr10:16869635	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005035343 RCV005063303
NM_001081.4(CUBN):c.4695+1G>T	SNV Germline	Chr10:16982483	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005045589
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)	SNV Germline	Chr10:16984274	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005039521
NM_001081.4(CUBN):c.4133G>A (p.Arg1378His)	SNV Germline	Chr10:17019868	Conflicting classifications of pathogenicity	Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005039576 RCV005323689
NM_001081.4(CUBN):c.3672+2T>C	SNV Germline	Chr10:17045005	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005039677
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)	SNV Germline	Chr10:16937639	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037717
NM_001081.4(CUBN):c.5549-1G>A	SNV Germline	Chr10:16939148	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005045527
NM_001081.4(CUBN):c.5209+2T>C	SNV Germline	Chr10:16948476	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037855
NM_001081.4(CUBN):c.5209+1G>A	SNV Germline	Chr10:16948477	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037859
NM_001081.4(CUBN):c.4969+1G>A	SNV Germline	Chr10:16952275	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037923
NM_001081.4(CUBN):c.4855+1G>A	SNV Germline	Chr10:16954388	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037942
NM_001081.4(CUBN):c.4770C>G (p.Ile1590Met)	SNV Germline	Chr10:16954474	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005045586 RCV005555152
NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)	SNV Germline	Chr10:16915960	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005035822
NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)	SNV Germline	Chr10:16918673	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037546
NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)	SNV Germline	Chr10:16918709	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037557
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)	SNV Germline	Chr10:16920000	Likely pathogenic	Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Single Submitter			1 SubmittersRCV005037604
NM_015922.3(NSDHL):c.656C>T (p.Ala219Val)	SNV Germline	ChrX:152865931	Conflicting classifications of pathogenicity	CK syndrome Child syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005041679 RCV005105347
NM_015922.3(NSDHL):c.1100G>A (p.Arg367His)	SNV Germline	ChrX:152869094	Conflicting classifications of pathogenicity	CK syndrome Child syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005041685 RCV005377700
NM_001081.4(CUBN):c.3329+1G>A	SNV Germline	Chr10:17047413	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005068379
NM_021939.4(FKBP10):c.1256+1G>A	SNV Germline	Chr17:41820462	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Bruck syndrome 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005088536 RCV005414298
NM_001081.4(CUBN):c.10032+2T>G	SNV Germline	Chr10:16840328	Likely pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005144351
NM_001081.4(CUBN):c.5350C>T (p.Gln1784Ter)	SNV Germline	Chr10:16940230	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005168741
NM_001081.4(CUBN):c.2789T>A (p.Leu930Ter)	SNV Germline	Chr10:17068607	Pathogenic	Imerslund-Grasbeck syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005207028
NM_001081.4(CUBN):c.10339G>T (p.Glu3447Ter)	SNV Germline	Chr10:16835037	Likely pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005251554
NM_001081.4(CUBN):c.9237-2A>G	SNV Germline	Chr10:16869855	Likely pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005623162

NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)

SNV
Germline

Chr10:17041160

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA118423

rs_121434430

4 SubmittersRCV000049749 RCV001093723 RCV005041997

NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile)

SNV
Germline

Chr3:146071386

Pathogenic

Bruck syndrome 2

No Assertion Criteria Provided

CA118946

rs_121434459

1 SubmittersRCV000008080

NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val)

SNV
Germline

Chr3:146071407

Pathogenic

Bruck syndrome 2

No Assertion Criteria Provided

CA118948

rs_121434460

1 SubmittersRCV000008081

NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)

SNV
Germline

Chr3:146071416

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

CA118950

rs_121434461

3 SubmittersRCV000008082

NM_015884.4(MBTPS2):c.680A>T (p.His227Leu)

SNV
Germline

ChrX:21868476

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome

No Assertion Criteria Provided

CA121439

rs_122468176

1 SubmittersRCV000012155

NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile)

SNV
Germline

ChrX:21845207

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome

No Assertion Criteria Provided

CA121440

rs_122468177

1 SubmittersRCV000012156

NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His)

SNV
Germline

ChrX:21880921

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121441

rs_122468178

4 SubmittersRCV000012157 RCV000081781

NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser)

SNV
Germline

ChrX:21882519

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome

No Assertion Criteria Provided

CA121442

rs_122468179

1 SubmittersRCV000012158

NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu)

SNV
Germline

ChrX:21868473

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome

No Assertion Criteria Provided

CA121443

rs_122468180

1 SubmittersRCV000012159

NM_001081.4(CUBN):c.3329+1G>T

SNV
Germline

Chr10:17047413

Pathogenic

Imerslund-Grasbeck syndrome type 1

No Assertion Criteria Provided

CA376149956

rs_1205598688

1 SubmittersRCV000023226

NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)

SNV
Germline

Chr17:41817156

Pathogenic/Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129381

rs_387906960

5 SubmittersRCV000023609 RCV002281717 RCV001852024

NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)

SNV
Germline

Chr17:41817149

Pathogenic/Likely pathogenic

Bruck syndrome 1
Condition: not provided
Osteogenesis imperfecta type 11
Osteogenesis imperfecta
Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Multiple Submitters
No Conflicts

CA130860

rs_397514674

5 SubmittersRCV000034360 RCV003556108 RCV003137556 RCV004579534 RCV005016321

NM_001081.4(CUBN):c.1230+1G>A

SNV
Germline

Chr10:17105456

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA144246

rs_386833766

3 SubmittersRCV000049730 RCV005031536

NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)

SNV
Unknown

Chr10:17103219

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144247

rs_386833767

1 SubmittersRCV000049731

NM_001081.4(CUBN):c.1530G>A (p.Lys510=)

SNV
Unknown

Chr10:17103125

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144251

rs_386833769

1 SubmittersRCV000049733

NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter)

SNV
Unknown

Chr10:17085756

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144256

rs_182512508

1 SubmittersRCV000049736

NM_001081.4(CUBN):c.2068A>G (p.Ile690Val)

SNV
Unknown

Chr10:17085639

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144259

rs_386833772

1 SubmittersRCV000049737

NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu)

SNV
Unknown

Chr10:17071565

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144262

rs_386833773

1 SubmittersRCV000049738

NM_001081.4(CUBN):c.250C>T (p.Gln84Ter)

SNV
Unknown

Chr10:17129123

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144265

rs_386833774

1 SubmittersRCV000049739

NM_001081.4(CUBN):c.252+1G>A

SNV
Unknown

Chr10:17129120

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144269

rs_386833776

1 SubmittersRCV000049741

NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)

SNV
Germline

Chr10:17068723

Pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA144271

rs_386833778

3 SubmittersRCV000049743 RCV002490624

NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter)

SNV
Unknown

Chr10:17068123

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144274

rs_386833779

1 SubmittersRCV000049744

NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)

SNV
Unknown

Chr10:17065591

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144277

rs_386833780

1 SubmittersRCV000049745

NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly)

SNV
Unknown

Chr10:17045102

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144281

rs_386833783

1 SubmittersRCV000049747

NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)

SNV
Unknown

Chr10:17043907

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144284

rs_386833784

1 SubmittersRCV000049748

NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)

SNV
Germline

Chr10:17041051

Pathogenic

Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Single Submitter

CA144287

rs_386833785

2 SubmittersRCV000049750 RCV004609305

NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)

SNV
Unknown

Chr10:17019886

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144290

rs_386833786

1 SubmittersRCV000049751

NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)

SNV
Unknown

Chr10:17019833

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144293

rs_386833787

1 SubmittersRCV000049752

NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)

SNV
Unknown

Chr10:17123643

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144296

rs_386833788

1 SubmittersRCV000049753

NM_001081.4(CUBN):c.489G>A (p.Lys163=)

SNV
Unknown

Chr10:17123588

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144299

rs_386833789

1 SubmittersRCV000049754

NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)

SNV
Unknown

Chr10:17115518

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144302

rs_386833790

1 SubmittersRCV000049755

NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)

SNV
Unknown

Chr10:17111045

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA144305

rs_386833791

1 SubmittersRCV000049756

NM_001081.4(CUBN):c.3330-439C>G

SNV
Germline

Chr10:17046533

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1

No Assertion Criteria Provided

CA144509

rs_386833782

2 SubmittersRCV000050203 RCV002054879

NM_015884.4(MBTPS2):c.671-9T>G

SNV
Germline

ChrX:21868458

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome

No Assertion Criteria Provided

CA151267

rs_587777305

1 SubmittersRCV000114758

NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)

SNV
Germline

Chr7:94425136

Likely pathogenic

Condition: not provided
Bruck syndrome 1

Criteria Provided
Single Submitter

CA245593

rs_794727669

2 SubmittersRCV000178479 RCV002469046

NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)

SNV
Germline

Chr10:17085756

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5425139

rs_182512508

5 SubmittersRCV001105434 RCV000490503 RCV003947690

NM_001081.4(CUBN):c.9236+8A>G

SNV
Germline

Chr10:16874366

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5422778

rs_372673718

3 SubmittersRCV000346493 RCV001472287 RCV003949927

NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)

SNV
Germline

Chr10:16828928

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422328

rs_145909413

3 SubmittersRCV000339747 RCV000395469 RCV002059261

NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)

SNV
Germline

Chr3:146073298

Conflicting classifications of pathogenicity

Bruck syndrome 2
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2654797

rs_558336915

3 SubmittersRCV000329070 RCV002278536 RCV002057849

NM_182943.3(PLOD2):c.616-13T>A

SNV
Germline

Chr3:146104355

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2655182

rs_149019740

2 SubmittersRCV000378843 RCV003765986

NM_182943.3(PLOD2):c.471G>A (p.Val157=)

SNV
Germline

Chr3:146110316

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2655243

rs_761346369

2 SubmittersRCV000334791 RCV002057850

NM_182943.3(PLOD2):c.2121+14T>C

SNV
Germline

Chr3:146071028

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2654679

rs_376009508

3 SubmittersRCV000288228 RCV002057848

NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)

SNV
Germline

Chr10:16835131

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422431

rs_147730705

2 SubmittersRCV000321124 RCV000861380

NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)

SNV
Germline

Chr10:16876942

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5422827

rs_41289299

4 SubmittersRCV000259293 RCV000817141 RCV002504053 RCV002522144

NM_001081.4(CUBN):c.2013A>G (p.Pro671=)

SNV
Germline

Chr10:17085694

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425122

rs_137892259

2 SubmittersRCV000331535 RCV002520564

NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)

SNV
Germline

Chr10:16899115

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5423013

rs_373893072

3 SubmittersRCV000300282 RCV001502219 RCV003950007

NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)

SNV
Germline

Chr10:16900832

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5423082

rs_149802222

3 SubmittersRCV000328483 RCV000702628 RCV002520551

NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)

SNV
Germline

Chr10:16904007

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5423168

rs_184746130

3 SubmittersRCV000287195 RCV002480084 RCV004609350

NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)

SNV
Germline

Chr10:16906318

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5423238

rs_138758085

3 SubmittersRCV000395245 RCV002522146 RCV004692899

NM_001081.4(CUBN):c.7210+9A>G

SNV
Germline

Chr10:16915812

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5423442

rs_117711403

3 SubmittersRCV000358011 RCV000862185 RCV003736696

NM_001081.4(CUBN):c.5967G>C (p.Val1989=)

SNV
Germline

Chr10:16933244

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5423839

rs_139153235

2 SubmittersRCV000262605 RCV001511260

NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)

SNV
Germline

Chr10:16937656

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5423887

rs_181991723

3 SubmittersRCV000389899 RCV002520555 RCV003930256

NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)

SNV
Germline

Chr10:16937678

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5423894

rs_147617753

8 SubmittersRCV000326081 RCV000693099 RCV000507797 RCV001353067 RCV005033863 RCV003409464

NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)

SNV
Germline

Chr10:16947292

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424067

rs_149164899

3 SubmittersRCV000276516 RCV000638853 RCV004609351

NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)

SNV
Germline

Chr10:16950008

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424156

rs_200977290

2 SubmittersRCV000265534 RCV000868542

NM_001081.4(CUBN):c.2610A>G (p.Glu870=)

SNV
Germline

Chr10:17071441

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424934

rs_143471343

2 SubmittersRCV000406401 RCV005090435

NM_001081.4(CUBN):c.2446+11A>G

SNV
Germline

Chr10:17071816

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424986

rs_372125740

2 SubmittersRCV000304885 RCV002520560

NM_001081.4(CUBN):c.2120G>A (p.Arg707His)

SNV
Germline

Chr10:17084452

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome
Inborn genetic diseases
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA10631413

rs_763524933

5 SubmittersRCV000325755 RCV002494936 RCV002520563 RCV002520562 RCV004742377

NM_001081.4(CUBN):c.736G>A (p.Val246Ile)

SNV
Germline

Chr10:17114174

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5425512

rs_760990753

5 SubmittersRCV000285948 RCV002487331 RCV002520567 RCV003165810 RCV004021472

NM_001081.4(CUBN):c.735C>T (p.Cys245=)

SNV
Germline

Chr10:17114175

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5425513

rs_766772944

3 SubmittersRCV000340804 RCV002520568 RCV004808673

NM_001081.4(CUBN):c.387+13C>T

SNV
Germline

Chr10:17126748

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425697

rs_766779196

2 SubmittersRCV000403716 RCV002520570

NM_001081.4(CUBN):c.10119C>A (p.Val3373=)

SNV
Germline

Chr10:16836296

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Condition: not provided
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5422474

rs_139596037

6 SubmittersRCV000267153 RCV001797077 RCV000638876 RCV003967858

NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)

SNV
Germline

Chr10:16836338

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422484

rs_147563157

3 SubmittersRCV000372186 RCV002504052 RCV002520547

NM_001081.4(CUBN):c.9664-9T>G

SNV
Germline

Chr10:16841056

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5422628

rs_145383974

4 SubmittersRCV000394267 RCV002059531 RCV003930253 RCV005230235

NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)

SNV
Germline

Chr10:16851301

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5422662

rs_200457480

3 SubmittersRCV000347378 RCV001518929 RCV005434785

NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)

SNV
Germline

Chr10:16869823

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422747

rs_200124646

2 SubmittersRCV000354085 RCV002520550

NM_001081.4(CUBN):c.8599-8C>T

SNV
Germline

Chr10:16890535

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422976

rs_199774490

2 SubmittersRCV000335207 RCV002059533

NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)

SNV
Germline

Chr10:16899182

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5423026

rs_139990077

3 SubmittersRCV000369045 RCV002059534 RCV003957559

NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)

SNV
Germline

Chr10:16913835

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5423343

rs_201001705

3 SubmittersRCV000363614 RCV000861215 RCV001531050

NM_001081.4(CUBN):c.7001-4G>A

SNV
Germline

Chr10:16916034

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA10635046

rs_886046871

2 SubmittersRCV000259224 RCV002520552

NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)

SNV
Germline

Chr10:16925687

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Condition: not provided
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA5423703

rs_566060177

4 SubmittersRCV000290525 RCV003387829 RCV004725156 RCV005033861

NM_001081.4(CUBN):c.5926+5G>A

SNV
Germline

Chr10:16937587

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5423873

rs_143301088

5 SubmittersRCV000367668 RCV001495663 RCV003920230 RCV003736697

NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)

SNV
Germline

Chr10:16937722

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5423906

rs_376536525

2 SubmittersRCV000292078 RCV001429079

NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)

SNV
Germline

Chr10:16948498

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424110

rs_201958183

4 SubmittersRCV000315176 RCV000638855 RCV002487327 RCV004021470

NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)

SNV
Germline

Chr10:16950012

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
not specified
Condition: not provided
Imerslund-Grasbeck syndrome
CUBN-related disorder
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424158

rs_141640975

9 SubmittersRCV000323051 RCV000508050 RCV000727792 RCV001088899 RCV003930257 RCV005033866

NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)

SNV
Germline

Chr10:17045075

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424618

rs_141740096

3 SubmittersRCV000272974 RCV000638862 RCV003930258

NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)

SNV
Germline

Chr10:17046068

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424685

rs_141164907

6 SubmittersRCV000324630 RCV000861038 RCV001570785 RCV004742375

NM_001081.4(CUBN):c.1926C>T (p.Asp642=)

SNV
Germline

Chr10:17088185

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425161

rs_201938886

2 SubmittersRCV000385645 RCV000865087

NM_001081.4(CUBN):c.1111+5T>C

SNV
Germline

Chr10:17109635

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5425407

rs_199662739

3 SubmittersRCV000309033 RCV001308314 RCV003897679

NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)

SNV
Germline

Chr10:16851280

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA10635360

rs_559567467

2 SubmittersRCV000287793 RCV001067020

NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)

SNV
Germline

Chr10:16851373

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422678

rs_199499934

2 SubmittersRCV000303291 RCV002059532

NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)

SNV
Germline

Chr10:17019909

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424491

rs_199763912

2 SubmittersRCV000352129 RCV002059535

NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)

SNV
Germline

Chr10:17047491

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5424721

rs_142560894

4 SubmittersRCV000261165 RCV000860991 RCV003967859 RCV003417965

NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)

SNV
Germline

Chr10:17068740

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Inborn genetic diseases
Condition: not provided
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424906

rs_138545198

6 SubmittersRCV000344707 RCV001850582 RCV002520557 RCV004584664 RCV003920232

NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)

SNV
Germline

Chr10:17084369

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5425053

rs_370770104

4 SubmittersRCV000264699 RCV001203886 RCV002520561 RCV002504055

NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)

SNV
Germline

Chr10:17100089

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
not specified
Imerslund-Grasbeck syndrome
Inborn genetic diseases
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5425221

rs_147449194

5 SubmittersRCV000278473 RCV000594315 RCV001474062 RCV002520565 RCV003930262

NM_001081.4(CUBN):c.489+14T>C

SNV
Germline

Chr10:17123574

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA10635433

rs_886046882

2 SubmittersRCV000346774 RCV002520569

NM_001081.4(CUBN):c.349-9T>C

SNV
Germline

Chr10:17126808

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425704

rs_375431948

2 SubmittersRCV000307250 RCV001478067

NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)

SNV
Germline

Chr17:41818217

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided
Bruck syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8566264

rs_140950528

5 SubmittersRCV000352068 RCV002522960 RCV001329235 RCV004021702

NM_001081.4(CUBN):c.3G>T (p.Met1Ile)

SNV
Germline

Chr10:17129763

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5425815

rs_11254385

4 SubmittersRCV000413849 RCV001438020 RCV005044630

NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)

SNV
Germline

Chr3:146071125

Pathogenic/Likely pathogenic

9 conditions
Condition: not provided
Bruck syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16043397

rs_780770356

5 SubmittersRCV000415250 RCV000627278 RCV001782894

NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)

SNV
Germline

Chr3:146079255

Conflicting classifications of pathogenicity

9 conditions
not specified
Condition: not provided
Bruck syndrome 2

Criteria Provided
Conflicting Classifications

CA2654910

rs_778360818

4 SubmittersRCV000415031 RCV004689730 RCV001861447 RCV004786681

NM_001081.4(CUBN):c.2756A>G (p.His919Arg)

SNV
Germline

Chr10:17068640

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA5424879

rs_148869805

6 SubmittersRCV001083838 RCV001106472 RCV000507264 RCV002252145

NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)

SNV
Germline

Chr10:16888428

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5422883

rs_117620008

8 SubmittersRCV000766837 RCV001029961 RCV001106016 RCV003403188 RCV005418180

NM_001081.4(CUBN):c.382C>T (p.Gln128Ter)

SNV
Germline

Chr10:17126766

Pathogenic/Likely pathogenic

Condition: not provided
Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376169069

rs_374695194

2 SubmittersRCV000585217 RCV003611520

NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)

SNV
Germline

Chr10:17103149

Pathogenic/Likely pathogenic

Condition: not provided
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA5425267

rs_145818316

2 SubmittersRCV000597860 RCV002476318

NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)

SNV
Germline

Chr10:16877035

Conflicting classifications of pathogenicity

not specified
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5422845

rs_115888073

7 SubmittersRCV000596622 RCV001106014 RCV000862571 RCV003945422 RCV004024812 RCV004707355

NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)

SNV
Germline

Chr10:16876950

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Condition: not provided
CUBN-related disorder
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5422829

rs_370778353

9 SubmittersRCV000625649 RCV001095374 RCV002223233 RCV004742540 RCV005034198

NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter)

SNV
Germline

Chr10:16904073

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376142712

rs_1554790861

2 SubmittersRCV000625850

NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp)

SNV
Germline

Chr10:17100212

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5425241

rs_564637804

3 SubmittersRCV000638854 RCV005034212 RCV004975738

NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)

SNV
Germline

Chr10:16877060

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5422851

rs_767131065

3 SubmittersRCV000638858 RCV001106015 RCV005034213

NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)

SNV
Germline

Chr10:16982510

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424315

rs_140970422

6 SubmittersRCV000658122 RCV001087887 RCV001105249 RCV003907922

NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)

SNV
Germline

Chr10:16933191

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5423827

rs_140202552

4 SubmittersRCV000694238 RCV002485672 RCV003334003 RCV004025185

NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)

SNV
Germline

Chr10:16940152

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Autism spectrum disorder
CUBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5424004

rs_143944436

10 SubmittersRCV000705555 RCV001547777 RCV001536070 RCV003313972 RCV003918139

NM_001081.4(CUBN):c.348+2T>C

SNV
Germline

Chr10:17127827

Likely pathogenic

Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5425727

rs_146047781

3 SubmittersRCV000693751 RCV001784320 RCV005046943

NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter)

SNV
Germline

Chr10:16940050

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376157143

rs_1564435943

1 SubmittersRCV000702873

NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)

SNV
Germline

Chr10:16984171

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5424383

rs_145661597

5 SubmittersRCV000698044 RCV004721561 RCV005034310 RCV005357933

NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)

SNV
Germline

Chr10:16906209

Pathogenic

Imerslund-Grasbeck syndrome
Condition: not provided
CUBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5423214

rs_137998687

4 SubmittersRCV000690027 RCV001797127 RCV004742573

NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)

SNV
Germline

Chr10:17041118

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA203600387

rs_1037514591

3 SubmittersRCV000700444 RCV002533589 RCV002507220

NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)

SNV
Germline

Chr13:20189056

Pathogenic

IFAP syndrome 1, with or without BRESHECK syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6904245

rs_781767722

2 SubmittersRCV000766235 RCV002534992

NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)

SNV
Germline

Chr10:16840413

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA376123649

rs_1564379463

1 SubmittersRCV000735733

NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)

SNV
Germline

Chr10:16840440

Likely pathogenic

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder

Criteria Provided
Single Submitter

CA5422545

rs_752843169

3 SubmittersRCV000735723 RCV002493368 RCV003975295

NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)

SNV
Germline

Chr10:16851374

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5422679

rs_368697251

3 SubmittersRCV000735728 RCV005036079

NM_001081.4(CUBN):c.5549-2A>C

SNV
Germline

Chr10:16939149

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA376156610

rs_1564435513

1 SubmittersRCV000735762

NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)

SNV
Germline

Chr10:17045951

Likely pathogenic; Affects

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign

No Assertion Criteria Provided

CA376149177

rs_1564492988

2 SubmittersRCV000735780 RCV001095375

NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)

SNV
Germline

Chr10:16954407

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5424245

rs_769881615

2 SubmittersRCV000778277 RCV005036096

NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr)

SNV
Germline

Chr10:16874444

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5422793

rs_569915247

2 SubmittersRCV000811423 RCV004028725

NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)

SNV
Germline

Chr10:17045033

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Condition: not provided
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424614

rs_145881708

4 SubmittersRCV000803662 RCV001759533 RCV002501081 RCV002534760

NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala)

SNV
Germline

Chr10:17046033

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Condition: not provided
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424681

rs_201138390

4 SubmittersRCV000794885 RCV001759499 RCV004027506 RCV005036140

NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)

SNV
Germline

Chr10:16933116

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5423810

rs_201720797

6 SubmittersRCV000857246 RCV001776065 RCV003236590 RCV005036241

NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)

SNV
Germline

Chr10:16828994

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422347

rs_145569358

2 SubmittersRCV001102845 RCV002062242

NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)

SNV
Germline

Chr10:16840360

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5422527

rs_147330179

4 SubmittersRCV000860975 RCV002275164 RCV003955568 RCV004707419

NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)

SNV
Germline

Chr10:16876925

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5422824

rs_140524729

3 SubmittersRCV000861451 RCV001104851 RCV003413673

NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)

SNV
Germline

Chr10:16918773

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5423535

rs_373804380

2 SubmittersRCV000864952 RCV001105058

NM_001081.4(CUBN):c.1236T>C (p.Thr412=)

SNV
Germline

Chr10:17104600

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5425329

rs_201404467

3 SubmittersRCV001106581 RCV001439376 RCV003948124

NM_001081.4(CUBN):c.6822-6C>T

SNV
Germline

Chr10:16918806

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5423545

rs_762758607

4 SubmittersRCV001418282 RCV002495251 RCV003965697 RCV004027654

NM_001081.4(CUBN):c.6125-5C>T

SNV
Germline

Chr10:16928308

Conflicting classifications of pathogenicity

Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5423791

rs_767744034

2 SubmittersRCV005036252 RCV005092718

NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)

SNV
Germline

Chr3:146079165

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Bruck syndrome 2

Criteria Provided
Conflicting Classifications

CA2654892

rs_142909885

4 SubmittersRCV000930681 RCV003317400 RCV001147125

NM_021939.4(FKBP10):c.1256+8C>G

SNV
Germline

Chr17:41820469

Conflicting classifications of pathogenicity

Condition: not provided
Bruck syndrome 1
FKBP10-related disorder

Criteria Provided
Conflicting Classifications

CA915950011

rs_1206061120

3 SubmittersRCV000942760 RCV001332421 RCV003978123

NM_001081.4(CUBN):c.4350+5G>A

SNV
Germline

Chr10:16990329

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424418

rs_200324164

3 SubmittersRCV000983940 RCV001251509 RCV003972996

NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)

SNV
Germline

Chr3:146081816

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA84513472

rs_893004444

4 SubmittersRCV000995609 RCV001858817 RCV005438050

NM_001081.4(CUBN):c.7534-1G>T

SNV
Germline

Chr10:16907680

Likely pathogenic

Imerslund-Grasbeck syndrome

No Assertion Criteria Provided

CA376144814

rs_1588639188

1 SubmittersRCV001029867

NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)

SNV
Germline

Chr10:16933123

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5423816

rs_374417889

6 SubmittersRCV001029890 RCV001784565 RCV002497349 RCV003928668

NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)

SNV
Germline

Chr10:16835131

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376121234

rs_147730705

1 SubmittersRCV001037142

NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)

SNV
Germline

Chr10:16915053

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA5423415

rs_557208468

1 SubmittersRCV001040296

NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)

SNV
Germline

Chr10:17068178

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5424832

rs_147955566

3 SubmittersRCV001064135 RCV004030524 RCV005036369

NM_001081.4(CUBN):c.7001-2A>T

SNV
Germline

Chr10:16916032

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376146983

rs_2131458620

1 SubmittersRCV001054115

NM_021939.4(FKBP10):c.391+1G>A

SNV
Germline

Chr17:41817204

Pathogenic

Bruck syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8566210

rs_141847881

3 SubmittersRCV001260285 RCV003660842

NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)

SNV
Germline

Chr10:17110924

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Condition: not provided
Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA5425453

rs_202153130

8 SubmittersRCV001095371 RCV001811645 RCV002555971 RCV002489738 RCV004609623

NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)

SNV
Germline

Chr10:17046089

Pathogenic

Imerslund-Grasbeck syndrome type 1

No Assertion Criteria Provided

CA376149791

rs_2131820786

1 SubmittersRCV001095372

NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)

SNV
Germline

Chr10:16828840

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422310

rs_139051724

2 SubmittersRCV001108059 RCV001475867

NM_001081.4(CUBN):c.10293C>T (p.His3431=)

SNV
Germline

Chr10:16835083

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA468299089

rs_1266678482

2 SubmittersRCV001102846 RCV003505164

NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)

SNV
Germline

Chr10:16869755

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
CUBN-related disorder
Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5422733

rs_150985118

4 SubmittersRCV001102939 RCV004743291 RCV002069715 RCV005540276

NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)

SNV
Germline

Chr10:16906278

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5423230

rs_144626884

6 SubmittersRCV001106115 RCV002069748 RCV003928707 RCV003480958

NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)

SNV
Germline

Chr10:16913889

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5423357

rs_144942741

2 SubmittersRCV001103146 RCV002069717

NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)

SNV
Germline

Chr10:16940183

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424011

rs_147772422

2 SubmittersRCV001106286 RCV002556085

NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)

SNV
Germline

Chr10:16954504

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424266

rs_200115233

2 SubmittersRCV001105248 RCV002069735

NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)

SNV
Germline

Chr10:17045075

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424617

rs_141740096

3 SubmittersRCV001103416 RCV002069719 RCV003906196

NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)

SNV
Germline

Chr10:17045184

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424644

rs_143531829

2 SubmittersRCV001103418 RCV001521980

NM_001081.4(CUBN):c.2932C>A (p.His978Asn)

SNV
Germline

Chr10:17068140

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Inborn genetic diseases
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424821

rs_369981313

5 SubmittersRCV001105345 RCV002558052 RCV001856416 RCV002497514 RCV003928705

NM_001081.4(CUBN):c.2673C>T (p.Cys891=)

SNV
Germline

Chr10:17068723

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5424902

rs_386833778

4 SubmittersRCV001106473 RCV001873508 RCV003953478 RCV003413919

NM_001081.4(CUBN):c.1230C>T (p.Ile410=)

SNV
Germline

Chr10:17105457

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5425357

rs_144627803

3 SubmittersRCV001108754 RCV001856452 RCV003883554

NM_001081.4(CUBN):c.879A>G (p.Pro293=)

SNV
Germline

Chr10:17114031

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425489

rs_142466038

2 SubmittersRCV001103592 RCV003611547

NM_001081.4(CUBN):c.483G>A (p.Gln161=)

SNV
Germline

Chr10:17123594

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425655

rs_371508247

2 SubmittersRCV001105538 RCV001445665

NM_001081.4(CUBN):c.165G>A (p.Thr55=)

SNV
Germline

Chr10:17129208

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5425771

rs_370127775

2 SubmittersRCV001106681 RCV001862858

NM_001081.4(CUBN):c.5343-11C>T

SNV
Germline

Chr10:16940248

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5424029

rs_777975604

2 SubmittersRCV001106287 RCV002558067

NM_001081.4(CUBN):c.348+10A>G

SNV
Germline

Chr10:17127819

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5425724

rs_373954000

3 SubmittersRCV001106680 RCV001470489 RCV003953479

NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)

SNV
Germline

Chr3:146071060

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2654686

rs_555534138

2 SubmittersRCV001145157 RCV002070753

NM_182943.3(PLOD2):c.1744-11A>G

SNV
Germline

Chr3:146072676

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2654778

rs_376704588

3 SubmittersRCV001145160 RCV001760103

NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter)

SNV
Germline

Chr10:16900642

Pathogenic

Condition: not provided
Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376140997

rs_1841332247

2 SubmittersRCV001169854 RCV003505165

NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)

SNV
Germline

Chr10:16915936

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA5423458

rs_374538208

2 SubmittersRCV001205838 RCV002497701

NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)

SNV
Germline

Chr10:17071968

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA5425011

rs_776704427

1 SubmittersRCV001206326

NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr10:17115488

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA376166461

rs_1461982823

2 SubmittersRCV001212584 RCV002491652

NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)

SNV
Germline

Chr10:16840334

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5422521

rs_150358307

4 SubmittersRCV001315141 RCV002486235 RCV003166803 RCV005423966

NM_001081.4(CUBN):c.6821+2T>C

SNV
Germline

Chr10:16919961

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Condition: not provided
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5423571

rs_150901286

5 SubmittersRCV001322176 RCV001535839 RCV001780247 RCV004743403

NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)

SNV
Germline

Chr10:16869645

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035350

NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)

SNV
Germline

Chr10:16831318

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5422375

rs_201426128

2 SubmittersRCV001388387 RCV002499808

NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter)

SNV
Germline

Chr10:16915980

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376146794

rs_2131458386

1 SubmittersRCV001388462

NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser)

SNV
Germline

Chr10:17068121

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5424814

rs_200851536

3 SubmittersRCV001463448 RCV002561263 RCV004743510

NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)

SNV
Unknown

Chr10:16890371

Likely pathogenic

Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

CA5422930

rs_370038232

1 SubmittersRCV001536056

NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)

SNV
Germline

Chr10:16899131

Pathogenic

Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5423017

rs_759203841

2 SubmittersRCV001536060 RCV002568229

NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)

SNV
Unknown

Chr10:17114114

Pathogenic

Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

CA376165591

rs_1161400848

1 SubmittersRCV001536066

NM_001081.4(CUBN):c.6673G>C (p.Asp2225His)

SNV
Germline

Chr10:16920111

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5423608

rs_140862613

2 SubmittersRCV001576426 RCV002072264

NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)

SNV
Germline

Chr10:17043910

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424577

rs_151039810

6 SubmittersRCV001730252 RCV002538701 RCV001861030 RCV005038285

NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)

SNV
Germline

Chr10:16828957

Pathogenic/Likely pathogenic

Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5422333

rs_756614749

3 SubmittersRCV001780594 RCV002478008 RCV003505186

NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)

SNV
Germline

Chr10:16835143

Pathogenic

Condition: not provided
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA203537464

rs_144484373

4 SubmittersRCV001780595 RCV001868833 RCV002272497 RCV005040373

NM_182943.3(PLOD2):c.1483C>T (p.Arg495Ter)

SNV
Germline

Chr3:146079133

Pathogenic/Likely pathogenic

Bruck syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354888260

rs_1436930576

3 SubmittersRCV001782659 RCV003128791

NM_001081.4(CUBN):c.4350+2T>C

SNV
Germline

Chr10:16990332

Likely pathogenic

Condition: not provided
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA203572988

rs_371489485

3 SubmittersRCV001797261 RCV002541305 RCV005040384

NM_001081.4(CUBN):c.6821+3A>G

SNV
Germline

Chr10:16919960

Pathogenic/Likely pathogenic

Proteinuria, chronic benign
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5423570

rs_767078847

4 SubmittersRCV001807894 RCV002478041 RCV004801054

NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)

SNV
Germline

ChrX:152850421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
CK syndrome
Child syndrome

Criteria Provided
Conflicting Classifications

CA10544735

rs_145580873

3 SubmittersRCV001819171 RCV003574889 RCV002482358

NM_015922.3(NSDHL):c.44G>A (p.Arg15Gln)

SNV
Germline

ChrX:152846368

Conflicting classifications of pathogenicity

CK syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10544701

rs_200748828

2 SubmittersRCV001837326 RCV003688950

NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)

SNV
Germline

Chr10:16928217

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5423765

rs_567146793

3 SubmittersRCV001974150 RCV002492211 RCV005552576

NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)

SNV
Germline

Chr10:16952338

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424214

rs_538984401

3 SubmittersRCV001870993 RCV002490054 RCV002551631

NM_182943.3(PLOD2):c.1045A>G (p.Lys349Glu)

SNV
Germline

Chr3:146086869

Conflicting classifications of pathogenicity

Condition: not provided
Bruck syndrome 2

Criteria Provided
Conflicting Classifications

CA84518517

rs_368727638

2 SubmittersRCV001992475 RCV004720346

NM_001081.4(CUBN):c.424C>T (p.Gln142Ter)

SNV
Germline

Chr10:17123653

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376168807

rs_765941616

1 SubmittersRCV001992370

NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter)

SNV
Germline

Chr10:16906313

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376143354

rs_1841554531

1 SubmittersRCV001955924

NM_015922.3(NSDHL):c.790-9T>A

SNV
Germline

ChrX:152868775

Conflicting classifications of pathogenicity

Condition: not provided
Child syndrome
CK syndrome

Criteria Provided
Conflicting Classifications

CA873244027

rs_1323999679

2 SubmittersRCV002042724 RCV005042670

NM_001081.4(CUBN):c.1418-9C>A

SNV
Germline

Chr10:17103246

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5425286

rs_779016475

2 SubmittersRCV002015670 RCV002486624

NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln)

SNV
Germline

Chr10:17043832

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424562

rs_755862991

2 SubmittersRCV001887215 RCV004975798

NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys)

SNV
Germline

Chr10:17068149

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424824

rs_199835213

2 SubmittersRCV001985607 RCV003289312

NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr17:41822280

Pathogenic/Likely pathogenic

Condition: not provided
Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Multiple Submitters
No Conflicts

CA8566710

rs_782682320

3 SubmittersRCV002001645 RCV005017026

NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu)

SNV
Germline

Chr10:16913836

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5423344

rs_140983139

3 SubmittersRCV002085157 RCV005042723 RCV005542705

NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)

SNV
Germline

Chr10:16825013

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Condition: not provided
CUBN-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5422277

rs_151134377

4 SubmittersRCV002092369 RCV002473352 RCV003948886 RCV005321103

NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro)

SNV
Germline

Chr17:41813213

Likely pathogenic

Bruck syndrome 1

Criteria Provided
Single Submitter

CA399513716

rs_2144041758

1 SubmittersRCV002244230

NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter)

SNV
Germline

Chr17:41813158

Pathogenic

Bruck syndrome 1

Criteria Provided
Single Submitter

CA399513531

rs_2144041488

1 SubmittersRCV002250878

NM_182943.3(PLOD2):c.648C>A (p.Cys216Ter)

SNV
Germline

Chr3:146104310

Pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

CA354894483

rs_2108057452

1 SubmittersRCV002267184

NM_001081.4(CUBN):c.2792-1G>T

SNV
Germline

Chr10:17068281

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

CA376156638

rs_2131845016

1 SubmittersRCV002272122

NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)

SNV
Germline

Chr3:146071314

Conflicting classifications of pathogenicity

Bruck syndrome 2
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA84500173

rs_967744523

3 SubmittersRCV002283921 RCV005239348 RCV003096377

NM_015922.3(NSDHL):c.796C>T (p.His266Tyr)

SNV
Germline

ChrX:152868790

Conflicting classifications of pathogenicity

Child syndrome
CK syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415287049

rs_2521816926

2 SubmittersRCV004725288 RCV002461708

NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)

SNV
Germline

Chr10:16947259

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA203590625

rs_776483762

2 SubmittersRCV002569382 RCV004785736

NM_001081.4(CUBN):c.6822-1G>A

SNV
Germline

Chr10:16918801

Likely pathogenic

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
CUBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA376148462

rs_1353402674

3 SubmittersRCV003076464 RCV003236596 RCV003410060

NM_001081.4(CUBN):c.8063-1G>A

SNV
Germline

Chr10:16901460

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376141809

rs_1431973744

1 SubmittersRCV003074441

NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)

SNV
Germline

Chr10:16869655

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5422714

rs_375276752

3 SubmittersRCV003061217 RCV005363002 RCV005323322

NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)

SNV
Germline

Chr10:16954406

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome
Inborn genetic diseases
CUBN-related disorder
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5424243

rs_147343635

6 SubmittersRCV003149048 RCV003079265 RCV004614336 RCV004744565 RCV005034642

NM_001081.4(CUBN):c.10033-1G>A

SNV
Germline

Chr10:16836383

Likely pathogenic

Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5422496

rs_765616473

2 SubmittersRCV003090727 RCV003404063

NM_001081.4(CUBN):c.2451C>T (p.Cys817=)

SNV
Germline

Chr10:17071600

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424968

rs_768531445

2 SubmittersRCV003092922 RCV005034688

NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)

SNV
Germline

Chr10:16950003

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424151

rs_372361501

3 SubmittersRCV003082304 RCV004073113 RCV005034681

NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)

SNV
Germline

Chr10:17068206

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5424837

rs_141859334

4 SubmittersRCV002596308 RCV004614376 RCV003143509 RCV005034757

NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)

SNV
Germline

Chr10:16984264

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder
Inborn genetic diseases
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5424392

rs_377730376

5 SubmittersRCV002606213 RCV005052007 RCV003963676 RCV004068942 RCV005034742

NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)

SNV
Germline

Chr10:17068670

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5424887

rs_774486522

2 SubmittersRCV002624550 RCV004614390

NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)

SNV
Germline

Chr10:16825012

Conflicting classifications of pathogenicity

Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5422276

rs_142120325

3 SubmittersRCV004244620 RCV005036664 RCV003121526

NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)

SNV
Germline

Chr10:17068202

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424836

rs_748865271

3 SubmittersRCV002582600 RCV004064371 RCV005032302

NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)

SNV
Germline

Chr10:17068617

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA376157012

rs_1400804891

2 SubmittersRCV002573010 RCV004612184

NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)

SNV
Germline

Chr10:16925682

Conflicting classifications of pathogenicity

Inborn genetic diseases
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5423700

rs_140117869

4 SubmittersRCV002614515 RCV002614514 RCV005032356 RCV005623484

NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)

SNV
Germline

Chr10:16938995

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376155936

rs_2491536970

1 SubmittersRCV002885016

NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)

SNV
Germline

ChrX:152868836

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Child syndrome
CK syndrome

Criteria Provided
Conflicting Classifications

CA10544859

rs_782143078

3 SubmittersRCV002932634 RCV002932633 RCV005045058

NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)

SNV
Germline

Chr10:17103228

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5425282

rs_756449782

3 SubmittersRCV002938998 RCV004067259 RCV005034507

NM_001081.4(CUBN):c.4969+2T>G

SNV
Germline

Chr10:16952274

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA203594668

rs_967367446

1 SubmittersRCV003038209

NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)

SNV
Germline

Chr10:16877002

Conflicting classifications of pathogenicity

Inborn genetic diseases
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5422839

rs_772487756

2 SubmittersRCV002859234 RCV005036568

NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)

SNV
Germline

Chr10:16928283

Conflicting classifications of pathogenicity

Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5423783

rs_141319759

2 SubmittersRCV002692914 RCV005036613

NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)

SNV
Unknown

ChrX:21851597

Conflicting classifications of pathogenicity

Keratosis follicularis spinulosa decalvans, X-linked
Osteogenesis imperfecta, type 19
Olmsted syndrome, X-linked
IFAP syndrome 1, with or without BRESHECK syndrome
MBTPS2-related disorder

Criteria Provided
Conflicting Classifications

CA412562808

rs_2519561020

2 SubmittersRCV003148094 RCV003148097 RCV003148096 RCV003148095 RCV005430864

NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr3:146081778

Pathogenic/Likely pathogenic

Bruck syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2654932

rs_778254905

3 SubmittersRCV005036735 RCV003319893

NM_182943.3(PLOD2):c.1872T>G (p.Tyr624Ter)

SNV
Germline

Chr3:146071400

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

CA354883573

rs_1248510301

1 SubmittersRCV003330303

NM_001081.4(CUBN):c.4351-1G>C

SNV
Germline

Chr10:16984280

Likely pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

CA376145019

rs_2491711751

1 SubmittersRCV003337777

NM_001081.4(CUBN):c.349-6T>A

SNV
Germline

Chr10:17126805

Conflicting classifications of pathogenicity

Condition: not provided
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA468307229

rs_1837201696

2 SubmittersRCV003481966 RCV005100296

NM_001081.4(CUBN):c.3829+1G>A

SNV
Germline

Chr10:17043826

Pathogenic/Likely pathogenic

Condition: not provided
Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376147466

rs_1349644537

2 SubmittersRCV003480442 RCV003611657

NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)

SNV
Germline

Chr10:16925397

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Inborn genetic diseases
Condition: not provided
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA5423653

rs_199915629

4 SubmittersRCV003506006 RCV004369035 RCV004697299 RCV004741619

NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)

SNV
Germline

Chr10:16831260

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376120431

rs_1237603270

1 SubmittersRCV003506145

NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)

SNV
Germline

Chr10:16874381

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
CUBN-related disorder
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5422781

rs_372853086

4 SubmittersRCV003506416 RCV003966520 RCV005036876 RCV005554976

NM_001081.4(CUBN):c.8755+2T>C

SNV
Germline

Chr10:16890369

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA5422927

rs_375789806

1 SubmittersRCV003506515

NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)

SNV
Germline

Chr10:16933093

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA5423804

rs_770636895

1 SubmittersRCV003506570

NM_001081.4(CUBN):c.884-1G>A

SNV
Germline

Chr10:17111051

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376164790

rs_2492087728

1 SubmittersRCV003505714

NM_001081.4(CUBN):c.1015+1G>A

SNV
Germline

Chr10:17110918

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA5425451

rs_192997971

1 SubmittersRCV003612498

NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)

SNV
Germline

Chr10:17045101

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376148566

rs_2491943944

1 SubmittersRCV003613509

NM_021939.4(FKBP10):c.1563+1G>A

SNV
Germline

Chr17:41821818

Pathogenic/Likely pathogenic

Condition: not provided
Bruck syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA399518986

rs_2144069621

2 SubmittersRCV003715539 RCV004798056

NM_001081.4(CUBN):c.5342+20G>A

SNV
Germline

Chr10:16947215

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424043

rs_550781850

2 SubmittersRCV003612019 RCV005036992

NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)

SNV
Germline

Chr10:16925737

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Conflicting Classifications

CA5423717

rs_558139194

2 SubmittersRCV003612323 RCV005037021

NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)

SNV
Germline

Chr10:16925770

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA5423725

rs_146319349

2 SubmittersRCV003814973 RCV005038533

NM_001081.4(CUBN):c.9237-1G>C

SNV
Germline

Chr10:16869854

Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Multiple Submitters
No Conflicts

CA376128666

rs_1343581366

2 SubmittersRCV003861804 RCV005038597

NM_001081.4(CUBN):c.10528+1G>A

SNV
Germline

Chr10:16831251

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

CA376120414

rs_2491125172

1 SubmittersRCV003873522

NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)

SNV
Germline

Chr10:17122797

Pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

CA376168385

rs_2492138978

1 SubmittersRCV004515787

NM_182943.3(PLOD2):c.1848+1G>T

SNV
Germline

Chr3:146072560

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

CA354884140

rs_2473220795

1 SubmittersRCV003990202

NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)

SNV
Germline

Chr10:17068186

Conflicting classifications of pathogenicity

Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

CA5424834

rs_146730713

2 SubmittersRCV004375201 RCV005038648

NM_001081.4(CUBN):c.5927-1G>A

SNV
Germline

Chr10:16933285

Likely pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

rs_2491510569

1 SubmittersRCV004566413

NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)

SNV
Germline

Chr10:17019959

Pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

CA376142526

rs_2491869860

1 SubmittersRCV004555255

NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)

SNV
Germline

ChrX:152846343

Conflicting classifications of pathogenicity

Inborn genetic diseases
CK syndrome
Child syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004650505 RCV005040738

NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)

SNV
Germline

Chr10:17084271

Pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004696586

NM_182943.3(PLOD2):c.1754A>T (p.Asp585Val)

SNV
Germline

Chr3:146072655

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004765443

NM_001081.4(CUBN):c.3173C>T (p.Thr1058Ile)

SNV
Germline

Chr10:17047570

Conflicting classifications of pathogenicity

Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004979389 RCV005040837

NM_021939.4(FKBP10):c.726T>G (p.Tyr242Ter)

SNV
Germline

Chr17:41818526

Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005020220

NM_021939.4(FKBP10):c.1400-1G>T

SNV
Germline

Chr17:41821653

Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005020223

NM_021939.4(FKBP10):c.1564-2A>T

SNV
Germline

Chr17:41822221

Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005020225

NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)

SNV
Germline

Chr10:16869803

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035377

NM_001081.4(CUBN):c.9236+5G>C

SNV
Germline

Chr10:16874369

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Proteinuria

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043191 RCV005626933

NM_001081.4(CUBN):c.8756-2A>G

SNV
Germline

Chr10:16888568

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035515

NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)

SNV
Germline

Chr10:16890419

Pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035534

NM_001081.4(CUBN):c.8598+1G>T

SNV
Germline

Chr10:16898995

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035583

NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)

SNV
Germline

Chr10:16899101

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005043279

NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)

SNV
Germline

Chr10:16900681

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035614

NM_182943.3(PLOD2):c.1359-1G>A

SNV
Germline

Chr3:146079258

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005031279

NM_182943.3(PLOD2):c.502G>T (p.Gly168Ter)

SNV
Germline

Chr3:146110285

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005031280

NM_182943.3(PLOD2):c.202-2A>G

SNV
Germline

Chr3:146121250

Likely pathogenic

Bruck syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005031281

NM_001081.4(CUBN):c.10120A>G (p.Ile3374Val)

SNV
Germline

Chr10:16836295

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033255 RCV005555148

NM_001081.4(CUBN):c.9664-2A>C

SNV
Germline

Chr10:16841049

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005033321

NM_001081.4(CUBN):c.9454+1G>A

SNV
Germline

Chr10:16869635

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005035343 RCV005063303

NM_001081.4(CUBN):c.4695+1G>T

SNV
Germline

Chr10:16982483

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005045589

NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)

SNV
Germline

Chr10:16984274

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005039521

NM_001081.4(CUBN):c.4133G>A (p.Arg1378His)

SNV
Germline

Chr10:17019868

Conflicting classifications of pathogenicity

Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005039576 RCV005323689

NM_001081.4(CUBN):c.3672+2T>C

SNV
Germline

Chr10:17045005

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005039677

NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)

SNV
Germline

Chr10:16937639

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037717

NM_001081.4(CUBN):c.5549-1G>A

SNV
Germline

Chr10:16939148

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005045527

NM_001081.4(CUBN):c.5209+2T>C

SNV
Germline

Chr10:16948476

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037855

NM_001081.4(CUBN):c.5209+1G>A

SNV
Germline

Chr10:16948477

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037859

NM_001081.4(CUBN):c.4969+1G>A

SNV
Germline

Chr10:16952275

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037923

NM_001081.4(CUBN):c.4855+1G>A

SNV
Germline

Chr10:16954388

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037942

NM_001081.4(CUBN):c.4770C>G (p.Ile1590Met)

SNV
Germline

Chr10:16954474

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005045586 RCV005555152

NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)

SNV
Germline

Chr10:16915960

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005035822

NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)

SNV
Germline

Chr10:16918673

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037546

NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)

SNV
Germline

Chr10:16918709

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037557

NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)

SNV
Germline

Chr10:16920000

Likely pathogenic

Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign

Criteria Provided
Single Submitter

1 SubmittersRCV005037604

NM_015922.3(NSDHL):c.656C>T (p.Ala219Val)

SNV
Germline

ChrX:152865931

Conflicting classifications of pathogenicity

CK syndrome
Child syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041679 RCV005105347

NM_015922.3(NSDHL):c.1100G>A (p.Arg367His)

SNV
Germline

ChrX:152869094

Conflicting classifications of pathogenicity

CK syndrome
Child syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041685 RCV005377700

NM_001081.4(CUBN):c.3329+1G>A

SNV
Germline

Chr10:17047413

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005068379

NM_021939.4(FKBP10):c.1256+1G>A

SNV
Germline

Chr17:41820462

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Bruck syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005088536 RCV005414298

NM_001081.4(CUBN):c.10032+2T>G

SNV
Germline

Chr10:16840328

Likely pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005144351

NM_001081.4(CUBN):c.5350C>T (p.Gln1784Ter)

SNV
Germline

Chr10:16940230

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005168741

NM_001081.4(CUBN):c.2789T>A (p.Leu930Ter)

SNV
Germline

Chr10:17068607

Pathogenic

Imerslund-Grasbeck syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005207028

NM_001081.4(CUBN):c.10339G>T (p.Glu3447Ter)

SNV
Germline

Chr10:16835037

Likely pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005251554

NM_001081.4(CUBN):c.9237-2A>G

SNV
Germline

Chr10:16869855

Likely pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005623162