A total 26 pathogenic variants reported in gene nucleoporin 107 (NUP107)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	SNV Germline	Chr12:68690746	Pathogenic/Likely pathogenic	Light complexion Global developmental delay Early onset focal segmental glomerulosclerosis Galloway-Mowat syndrome 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA249928	rs_730882216	5 SubmittersRCV000162125 RCV000721164 RCV001093320
NM_020401.4(NUP107):c.2492A>C (p.Asp831Ala)	SNV Germline	Chr12:68735334	Pathogenic	Nephrotic syndrome, type 11	Criteria Provided Single Submitter	CA279914	rs_864321632	2 SubmittersRCV000203507
NM_020401.4(NUP107):c.969+1G>A	SNV Germline	Chr12:68713809	Pathogenic	Nephrotic syndrome, type 11	No Assertion Criteria Provided	CA347927	rs_864321688	1 SubmittersRCV000203541
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)	SNV Germline	Chr12:68696839	Likely pathogenic	Nephrotic syndrome, type 11	Criteria Provided Single Submitter	CA279912	rs_864321633	2 SubmittersRCV000203505
NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn)	SNV Germline	Chr12:68721868	Pathogenic	Ovarian dysgenesis 6	No Assertion Criteria Provided	CA385694986	rs_1555178358	1 SubmittersRCV000677178
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys)	SNV Germline	Chr12:68741976	Likely pathogenic	Nephrotic syndrome, type 11	Criteria Provided Single Submitter	CA385699860	rs_1565707103	2 SubmittersRCV000721163
NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr)	SNV Germline	Chr12:68721854	Pathogenic	Galloway-Mowat syndrome 7	No Assertion Criteria Provided	CA6677751	rs_745342141	1 SubmittersRCV000760138
NM_020401.4(NUP107):c.496T>C (p.Ser166Pro)	SNV Germline	Chr12:68696866	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA6677453	rs_139326798	2 SubmittersRCV000907516
NM_020401.4(NUP107):c.1064G>A (p.Arg355His)	SNV Germline	Chr12:68715721	Pathogenic/Likely pathogenic	Ovarian dysgenesis 6	No Assertion Criteria Provided	CA6677638	rs_747135247	2 SubmittersRCV001839423
NM_020401.4(NUP107):c.1178C>A (p.Thr393Lys)	SNV Germline	Chr12:68719581	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA6677687	rs_539628480	2 SubmittersRCV001776882
NM_020401.4(NUP107):c.790C>T (p.Arg264Ter)	SNV Germline	Chr12:68709298	Likely pathogenic	NUP107-related disorder	Criteria Provided Single Submitter	CA6677549	rs_768060090	1 SubmittersRCV003419091
NM_020401.4(NUP107):c.580C>T (p.Arg194Ter)	SNV Germline	Chr12:68700753	Likely pathogenic	Nephrotic syndrome, type 11	Criteria Provided Single Submitter	CA6677494	rs_774346160	1 SubmittersRCV002250905
NM_020401.4(NUP107):c.2101+1G>T	SNV Germline	Chr12:68732740	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA238446243	rs_942432213	1 SubmittersRCV002283280
NM_020401.4(NUP107):c.262C>T (p.Arg88Ter)	SNV Germline	Chr12:68690705	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA6677361	rs_754567507	1 SubmittersRCV002646736
NM_020401.4(NUP107):c.553-2A>C	SNV Germline	Chr12:68700724	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385697417	rs_1876288355	1 SubmittersRCV002721475
NM_020401.4(NUP107):c.178C>T (p.Arg60Ter)	SNV Germline	Chr12:68689610	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385695936	rs_1473034869	1 SubmittersRCV003008958
NM_020401.4(NUP107):c.1930C>T (p.Arg644Ter)	SNV Germline	Chr12:68731651	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385698140	rs_1430547081	1 SubmittersRCV003031434
NM_020401.4(NUP107):c.1577-1G>T	SNV Germline	Chr12:68726498	Likely pathogenic	NUP107-related disorder	Criteria Provided Single Submitter	CA385696564	rs_2498970944	1 SubmittersRCV003391594
NM_020401.4(NUP107):c.303+2T>C	SNV Germline	Chr12:68690748	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA238431496	rs_918323808	1 SubmittersRCV003671965
NM_020401.4(NUP107):c.1063C>T (p.Arg355Cys)	SNV Germline	Chr12:68715720	Likely pathogenic	Galloway-Mowat syndrome 7	Criteria Provided Single Submitter	CA385692838	rs_1165860389	1 SubmittersRCV003993531
NM_020401.4(NUP107):c.1403C>G (p.Ser468Ter)	SNV Germline	Chr12:68721932	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005113944
NM_020401.4(NUP107):c.820G>T (p.Glu274Ter)	SNV Germline	Chr12:68710023	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005435815