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	No Assertion Criteria Provided	CA118423	rs_121434430	2 SubmittersRCV000049749 RCV001093723
NM_001081.4(CUBN):c.3329+1G>T	SNV Germline	Chr10:17047413	Pathogenic	Imerslund-Grasbeck syndrome type 1	No Assertion Criteria Provided		rs_1205598688	1 SubmittersRCV000023226
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.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_001081.4(CUBN):c.1951C>G (p.Arg651Gly)	SNV Germline	Chr10:17085756	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5425139	rs_182512508	5 SubmittersRCV000490503 RCV001105434 RCV003947690
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_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.6089G>A (p.Arg2030Gln)	SNV Germline	Chr10:16933122	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5423814	rs_143400113	3 SubmittersRCV000355019 RCV000638865 RCV002520554
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 CUBN-related disorder Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5423887	rs_181991723	3 SubmittersRCV000389899 RCV003930256 RCV002520555
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)	SNV Germline	Chr10:16937678	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Condition: not provided Imerslund-Grasbeck syndrome Proteinuria, chronic benign CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5423894	rs_147617753	7 SubmittersRCV000326081 RCV000507797 RCV000693099 RCV001353067 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.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 Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign CUBN-related disorder	Criteria Provided Conflicting Classifications	CA10631413	rs_763524933	5 SubmittersRCV000325755 RCV002520563 RCV002520562 RCV002494936 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 Inborn genetic diseases Imerslund-Grasbeck syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5425512	rs_760990753	5 SubmittersRCV000285948 RCV002487331 RCV004021472 RCV002520567 RCV003165810
NM_001081.4(CUBN):c.735C>T (p.Cys245=)	SNV Germline	Chr10:17114175	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Condition: not provided Imerslund-Grasbeck syndrome	Criteria Provided Conflicting Classifications	CA5425513	rs_766772944	3 SubmittersRCV000340804 RCV004808673 RCV002520568
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 Imerslund-Grasbeck syndrome Condition: not provided CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5422474	rs_139596037	5 SubmittersRCV000267153 RCV000638876 RCV001797077 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	Criteria Provided Conflicting Classifications	CA5422628	rs_145383974	3 SubmittersRCV000394267 RCV002059531 RCV003930253
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	Criteria Provided Conflicting Classifications	CA5422662	rs_200457480	2 SubmittersRCV000347378 RCV001518929
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	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5423703	rs_566060177	4 SubmittersRCV000290525 RCV003387829 RCV004725156
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 Condition: not provided not specified Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424158	rs_141640975	8 SubmittersRCV000323051 RCV000727792 RCV000508050 RCV001088899 RCV003930257
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 Condition: not provided Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications	CA5424685	rs_141164907	6 SubmittersRCV000324630 RCV001570785 RCV000861038 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.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 Inborn genetic diseases Imerslund-Grasbeck syndrome CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5424906	rs_138545198	6 SubmittersRCV000344707 RCV002520557 RCV001850582 RCV003920232 RCV004584664
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)	SNV Germline	Chr10:17084369	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Inborn genetic diseases Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications	CA5425053	rs_370770104	4 SubmittersRCV000264699 RCV002520561 RCV001203886 RCV002504055
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)	SNV Germline	Chr10:17100089	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome not specified CUBN-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5425221	rs_147449194	5 SubmittersRCV000278473 RCV001474062 RCV000594315 RCV003930262 RCV002520565
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_001081.4(CUBN):c.2756A>G (p.His919Arg)	SNV Germline	Chr10:17068640	Conflicting classifications of pathogenicity	Condition: not provided Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 See cases	Criteria Provided Conflicting Classifications	CA5424879	rs_148869805	6 SubmittersRCV000507264 RCV001083838 RCV001106472 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	Criteria Provided Conflicting Classifications	CA5422883	rs_117620008	7 SubmittersRCV000766837 RCV001029961 RCV001106016 RCV003403188
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 Imerslund-Grasbeck syndrome type 1 CUBN-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5422845	rs_115888073	6 SubmittersRCV000596622 RCV000862571 RCV001106014 RCV003945422 RCV004024812 RCV004707355
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		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 Inborn genetic diseases Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_140202552	4 SubmittersRCV000694238 RCV004025185 RCV002485672 RCV003334003
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	SNV Germline	Chr10:16940152	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Condition: not provided Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign Autism spectrum disorder CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts		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 Imerslund-Grasbeck syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_146047781	3 SubmittersRCV000693751 RCV004760720 RCV001784320
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)	SNV Germline	Chr10:17041118	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Inborn genetic diseases Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications		rs_1037514591	3 SubmittersRCV000700444 RCV002533589 RCV002507220
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		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 Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 CUBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		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		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		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		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		rs_762758607	4 SubmittersRCV001418282 RCV002495251 RCV003965697 RCV004027654
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		rs_200324164	3 SubmittersRCV000983940 RCV001251509 RCV003972996
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		rs_374417889	6 SubmittersRCV001029890 RCV001784565 RCV002497349 RCV003928668
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 type 1 Proteinuria, chronic benign Imerslund-Grasbeck syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_202153130	8 SubmittersRCV001095371 RCV001811645 RCV002489738 RCV002555971 RCV004609623
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)	SNV Germline	Chr10:17046089	Pathogenic	Imerslund-Grasbeck syndrome type 1	No Assertion Criteria Provided		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		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		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 Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications		rs_150985118	3 SubmittersRCV001102939 RCV002069715 RCV004743291
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)	SNV Germline	Chr10:16906278	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Condition: not provided Imerslund-Grasbeck syndrome CUBN-related disorder	Criteria Provided Conflicting Classifications		rs_144626884	6 SubmittersRCV001106115 RCV003480958 RCV002069748 RCV003928707
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		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		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		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		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		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 Imerslund-Grasbeck syndrome Inborn genetic diseases CUBN-related disorder Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Conflicting Classifications		rs_369981313	5 SubmittersRCV001105345 RCV001856416 RCV002558052 RCV003928705 RCV002497514
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		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		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		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		rs_371508247	2 SubmittersRCV001105538 RCV001445665
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		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		rs_373954000	3 SubmittersRCV001106680 RCV001470489 RCV003953479
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		rs_374538208	2 SubmittersRCV001205838 RCV002497701
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)	SNV Germline	Chr10:17115488	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Multiple Submitters No Conflicts		rs_1461982823	2 SubmittersRCV001212584 RCV002491652
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)	SNV Germline	Chr10:16913910	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications		rs_148976047	2 SubmittersRCV001313034 RCV002499602
NM_001081.4(CUBN):c.6821+2T>C	SNV Germline	Chr10:16919961	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Condition: not provided CUBN-related disorder	Criteria Provided Conflicting Classifications		rs_150901286	5 SubmittersRCV001322176 RCV001535839 RCV001780247 RCV004743403
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		rs_201426128	2 SubmittersRCV001388387 RCV002499808
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		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		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		rs_1161400848	1 SubmittersRCV001536066
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_144484373	3 SubmittersRCV001780595 RCV001868833 RCV002272497
NM_001081.4(CUBN):c.6821+3A>G	SNV Germline	Chr10:16919960	Conflicting classifications of pathogenicity	Proteinuria, chronic benign Condition: not provided Imerslund-Grasbeck syndrome type 1 Proteinuria, chronic benign	Criteria Provided Conflicting Classifications		rs_767078847	4 SubmittersRCV001807894 RCV004801054 RCV002478041
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		rs_538984401	3 SubmittersRCV001870993 RCV002490054 RCV002551631
NM_001081.4(CUBN):c.2792-1G>T	SNV Germline	Chr10:17068281	Likely pathogenic	Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter		rs_2131845016	1 SubmittersRCV002272122
NM_001081.4(CUBN):c.4351-1G>C	SNV Germline	Chr10:16984280	Likely pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV003337777
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)	SNV Germline	Chr10:17122797	Pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004515787
NM_001081.4(CUBN):c.5927-1G>A	SNV Germline	Chr10:16933285	Likely pathogenic	Imerslund-Grasbeck syndrome type 1	Criteria Provided Single Submitter			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			1 SubmittersRCV004555255
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_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)

SNV
Germline

Chr10:17041160

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1

No Assertion Criteria Provided

CA118423

rs_121434430

2 SubmittersRCV000049749 RCV001093723

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

SNV
Germline

Chr10:17047413

Pathogenic

Imerslund-Grasbeck syndrome type 1

No Assertion Criteria Provided

rs_1205598688

1 SubmittersRCV000023226

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.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_001081.4(CUBN):c.1951C>G (p.Arg651Gly)

SNV
Germline

Chr10:17085756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5425139

rs_182512508

5 SubmittersRCV000490503 RCV001105434 RCV003947690

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_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.6089G>A (p.Arg2030Gln)

SNV
Germline

Chr10:16933122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5423814

rs_143400113

3 SubmittersRCV000355019 RCV000638865 RCV002520554

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
CUBN-related disorder
Imerslund-Grasbeck syndrome

Criteria Provided
Conflicting Classifications

CA5423887

rs_181991723

3 SubmittersRCV000389899 RCV003930256 RCV002520555

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

SNV
Germline

Chr10:16937678

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5423894

rs_147617753

7 SubmittersRCV000326081 RCV000507797 RCV000693099 RCV001353067 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.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
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 1
Proteinuria, chronic benign
CUBN-related disorder

Criteria Provided
Conflicting Classifications

CA10631413

rs_763524933

5 SubmittersRCV000325755 RCV002520563 RCV002520562 RCV002494936 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
Inborn genetic diseases
Imerslund-Grasbeck syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5425512

rs_760990753

5 SubmittersRCV000285948 RCV002487331 RCV004021472 RCV002520567 RCV003165810

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

SNV
Germline

Chr10:17114175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5425513

rs_766772944

3 SubmittersRCV000340804 RCV004808673 RCV002520568

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

Criteria Provided
Conflicting Classifications

CA5422474

rs_139596037

5 SubmittersRCV000267153 RCV000638876 RCV001797077 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

Criteria Provided
Conflicting Classifications

CA5422628

rs_145383974

3 SubmittersRCV000394267 RCV002059531 RCV003930253

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

Criteria Provided
Conflicting Classifications

CA5422662

rs_200457480

2 SubmittersRCV000347378 RCV001518929

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5423703

rs_566060177

4 SubmittersRCV000290525 RCV003387829 RCV004725156

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

Criteria Provided
Conflicting Classifications

CA5424158

rs_141640975

8 SubmittersRCV000323051 RCV000727792 RCV000508050 RCV001088899 RCV003930257

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

Criteria Provided
Conflicting Classifications

CA5424685

rs_141164907

6 SubmittersRCV000324630 RCV001570785 RCV000861038 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.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
Inborn genetic diseases
Imerslund-Grasbeck syndrome
CUBN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5424906

rs_138545198

6 SubmittersRCV000344707 RCV002520557 RCV001850582 RCV003920232 RCV004584664

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

SNV
Germline

Chr10:17084369

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5425053

rs_370770104

4 SubmittersRCV000264699 RCV002520561 RCV001203886 RCV002504055

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

SNV
Germline

Chr10:17100089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5425221

rs_147449194

5 SubmittersRCV000278473 RCV001474062 RCV000594315 RCV003930262 RCV002520565

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_001081.4(CUBN):c.2756A>G (p.His919Arg)

SNV
Germline

Chr10:17068640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5424879

rs_148869805

6 SubmittersRCV000507264 RCV001083838 RCV001106472 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

Criteria Provided
Conflicting Classifications

CA5422883

rs_117620008

7 SubmittersRCV000766837 RCV001029961 RCV001106016 RCV003403188

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

Criteria Provided
Conflicting Classifications

CA5422845

rs_115888073

6 SubmittersRCV000596622 RCV000862571 RCV001106014 RCV003945422 RCV004024812 RCV004707355

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

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

Criteria Provided
Conflicting Classifications

rs_140202552

4 SubmittersRCV000694238 RCV004025185 RCV002485672 RCV003334003

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

SNV
Germline

Chr10:16940152

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Imerslund-Grasbeck syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_146047781

3 SubmittersRCV000693751 RCV004760720 RCV001784320

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

SNV
Germline

Chr10:17041118

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1037514591

3 SubmittersRCV000700444 RCV002533589 RCV002507220

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

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

Criteria Provided
Conflicting Classifications

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

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

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

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

rs_762758607

4 SubmittersRCV001418282 RCV002495251 RCV003965697 RCV004027654

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

rs_200324164

3 SubmittersRCV000983940 RCV001251509 RCV003972996

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

rs_374417889

6 SubmittersRCV001029890 RCV001784565 RCV002497349 RCV003928668

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_202153130

8 SubmittersRCV001095371 RCV001811645 RCV002489738 RCV002555971 RCV004609623

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

SNV
Germline

Chr10:17046089

Pathogenic

Imerslund-Grasbeck syndrome type 1

No Assertion Criteria Provided

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

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

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
Imerslund-Grasbeck syndrome
CUBN-related disorder

Criteria Provided
Conflicting Classifications

rs_150985118

3 SubmittersRCV001102939 RCV002069715 RCV004743291

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

SNV
Germline

Chr10:16906278

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144626884

6 SubmittersRCV001106115 RCV003480958 RCV002069748 RCV003928707

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_369981313

5 SubmittersRCV001105345 RCV001856416 RCV002558052 RCV003928705 RCV002497514

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

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

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

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

rs_371508247

2 SubmittersRCV001105538 RCV001445665

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

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

rs_373954000

3 SubmittersRCV001106680 RCV001470489 RCV003953479

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

rs_374538208

2 SubmittersRCV001205838 RCV002497701

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

SNV
Germline

Chr10:17115488

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1461982823

2 SubmittersRCV001212584 RCV002491652

NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)

SNV
Germline

Chr10:16913910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_148976047

2 SubmittersRCV001313034 RCV002499602

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

SNV
Germline

Chr10:16919961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_150901286

5 SubmittersRCV001322176 RCV001535839 RCV001780247 RCV004743403

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

rs_201426128

2 SubmittersRCV001388387 RCV002499808

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

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

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

rs_1161400848

1 SubmittersRCV001536066

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_144484373

3 SubmittersRCV001780595 RCV001868833 RCV002272497

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

SNV
Germline

Chr10:16919960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767078847

4 SubmittersRCV001807894 RCV004801054 RCV002478041

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

rs_538984401

3 SubmittersRCV001870993 RCV002490054 RCV002551631

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

SNV
Germline

Chr10:17068281

Likely pathogenic

Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

rs_2131845016

1 SubmittersRCV002272122

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

SNV
Germline

Chr10:16984280

Likely pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337777

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

SNV
Germline

Chr10:17122797

Pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004515787

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

SNV
Germline

Chr10:16933285

Likely pathogenic

Imerslund-Grasbeck syndrome type 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV004555255

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