A total 20 pathogenic variants reported in gene potassium inwardly rectifying channel subfamily J member 13 (KCNJ13)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp)	SNV Germline	Chr2:232768790	Pathogenic/Likely pathogenic	Snowflake vitreoretinal degeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118359	rs_121918542	4 SubmittersRCV000006963 RCV001389454
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)	SNV Germline	Chr2:232768778	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA259778	rs_387906858	2 SubmittersRCV000023266
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)	SNV Germline	Chr2:232768552	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA259781	rs_143607153	1 SubmittersRCV000023267
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)	SNV Germline	Chr2:232771004	Pathogenic	Condition: not provided Leber congenital amaurosis 16	Criteria Provided Single Submitter	CA236131	rs_786205550	2 SubmittersRCV000171339 RCV000210435
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	SNV Germline	Chr2:232770905	Pathogenic/Likely pathogenic	Leber congenital amaurosis 16 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278972	rs_863224884	3 SubmittersRCV000197888 RCV000515663 RCV005090017
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)	SNV Germline	Chr2:232771205	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA358744	rs_869320631	2 SubmittersRCV000210439
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=)	SNV Germline	Chr2:232768716	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA10605925	rs_886043769	2 SubmittersRCV000408288
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=)	SNV Germline	Chr2:232768800	Conflicting classifications of pathogenicity	Leber congenital amaurosis 16 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2170027	rs_769501717	3 SubmittersRCV000395001 RCV001465808 RCV005582303
NM_002242.4(KCNJ13):c.930A>G (p.Glu310=)	SNV Germline	Chr2:232768344	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2169966	rs_377736321	2 SubmittersRCV000997698
NM_002242.4(KCNJ13):c.53G>A (p.Arg18Gln)	SNV Germline	Chr2:232771310	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2170091	rs_144268831	2 SubmittersRCV001044483 RCV004031361
NM_002242.4(KCNJ13):c.870G>A (p.Pro290=)	SNV Germline	Chr2:232768404	Conflicting classifications of pathogenicity	Leber congenital amaurosis 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA2169975	rs_539013622	2 SubmittersRCV001143770 RCV002557062
NM_002242.4(KCNJ13):c.141C>T (p.Ile47=)	SNV Germline	Chr2:232771222	Conflicting classifications of pathogenicity	Leber congenital amaurosis 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA2170080	rs_770352640	2 SubmittersRCV001137214 RCV002070602
NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro)	SNV Germline	Chr2:232770932	Likely pathogenic	Leber congenital amaurosis 16 Retinitis pigmentosa	Criteria Provided Single Submitter	CA351011908	rs_1361858388	2 SubmittersRCV001269022 RCV004813155
NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter)	SNV Germline	Chr2:232768619	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA351009875	rs_1475176373	1 SubmittersRCV001257099
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile)	SNV Germline	Chr2:232771049	Likely pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA351013697	rs_1699223440	1 SubmittersRCV001257100
NM_002242.4(KCNJ13):c.913C>T (p.Arg305Ter)	SNV Germline	Chr2:232768361	Conflicting classifications of pathogenicity	Condition: not provided Snowflake vitreoretinal degeneration	Criteria Provided Conflicting Classifications	CA351008023	rs_1699065038	2 SubmittersRCV001307652 RCV005253792
NM_002242.4(KCNJ13):c.474G>T (p.Ala158=)	SNV Germline	Chr2:232768800	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2170026	rs_769501717	3 SubmittersRCV001506873 RCV004037864
NM_002242.4(KCNJ13):c.827A>C (p.Glu276Ala)	SNV Germline	Chr2:232768447	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2169980	rs_374411396	2 SubmittersRCV001521269