ClinVar for MedGen (Select 481692) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978434	NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile)	GIGYF2, KCNJ13 (S105I +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 16	GLikely pathogenic
Select item 978433	NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter)	GIGYF2, KCNJ13 (Q139* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Leber congenital amaurosis 16	GPathogenic
Select item 978432	NM_002242.4(KCNJ13):c.494del (p.Asn165fs)	GIGYF2, KCNJ13 (K86fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 16	GPathogenic
Select item 916717	NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro)	GIGYF2, KCNJ13 (L144P +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899321	NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln)	GIGYF2, KCNJ13 (R162Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 16 +1 more	GUncertain significance
Select item 899320	NM_002242.4(KCNJ13):c.870G>A (p.Pro290=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899319	NM_002242.4(KCNJ13):c.*68T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899263	NM_002242.4(KCNJ13):c.*1718T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899262	NM_002242.4(KCNJ13):c.*1757A>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899261	NM_002242.4(KCNJ13):c.*2007T>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 898214	NM_002242.4(KCNJ13):c.*326A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 898162	NM_002242.4(KCNJ13):c.*2153G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 898161	NM_002242.4(KCNJ13):c.*2225G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 896589	NM_002242.4(KCNJ13):c.*467A>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896588	NM_002242.4(KCNJ13):c.*615C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896587	NM_002242.4(KCNJ13):c.*620G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896586	NM_002242.4(KCNJ13):c.*784T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896585	NM_002242.4(KCNJ13):c.*856A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895231	NM_002242.4(KCNJ13):c.125G>C (p.Arg42Pro)	GIGYF2, KCNJ13 (R42P)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895230	NM_002242.4(KCNJ13):c.141C>T (p.Ile47=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895229	NM_002242.4(KCNJ13):c.242T>C (p.Met81Thr)	GIGYF2, KCNJ13 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 895169	NM_002242.4(KCNJ13):c.*1159T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895168	NM_002242.4(KCNJ13):c.*1195G>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895167	NM_002242.4(KCNJ13):c.*1553T>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895166	NM_002242.4(KCNJ13):c.*1635T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335061	NM_002242.4(KCNJ13):c.-110A>T	GIGYF2, KCNJ13	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335060	NM_002242.4(KCNJ13):c.-74C>T	GIGYF2, KCNJ13	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335059	NM_002242.4(KCNJ13):c.-73T>C	GIGYF2, KCNJ13	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335057	NM_002242.4(KCNJ13):c.474G>A (p.Ala158=)	GIGYF2, KCNJ13 (E80K)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 16 +1 more	GConflicting classifications of pathogenicity
Select item 335056	NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile)	GIGYF2, KCNJ13 (T175I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Leber congenital amaurosis 16 +1 more	GBenign
Select item 335055	NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp)	GIGYF2, KCNJ13 (G183D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335054	NM_002242.4(KCNJ13):c.621A>G (p.Val207=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335053	NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn)	GIGYF2, KCNJ13 (S230N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GUncertain significance
Select item 335052	NM_002242.4(KCNJ13):c.*94A>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335051	NM_002242.4(KCNJ13):c.*102T>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335050	NM_002242.4(KCNJ13):c.*121A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335049	NM_002242.4(KCNJ13):c.*135A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16 +1 more	GBenign
Select item 335047	NM_002242.4(KCNJ13):c.*256G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335046	NM_002242.4(KCNJ13):c.*290T>C	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335045	NM_002242.4(KCNJ13):c.*342A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335044	NM_002242.4(KCNJ13):c.*371T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335043	NM_002242.4(KCNJ13):c.*619C>T	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335042	NM_002242.4(KCNJ13):c.*692T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335041	NM_002242.4(KCNJ13):c.*761C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GLikely benign
Select item 335040	NM_002242.4(KCNJ13):c.*957A>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335039	NM_002242.4(KCNJ13):c.*1088T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335038	NM_002242.4(KCNJ13):c.*1201C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335036	NM_002242.4(KCNJ13):c.*1500G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335034	NM_002242.4(KCNJ13):c.*1758T>A	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335033	NM_002242.4(KCNJ13):c.*1804G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335032	NM_002242.4(KCNJ13):c.*1839A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GBenign
Select item 335031	NM_002242.4(KCNJ13):c.*1867T>C	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335030	NM_002242.4(KCNJ13):c.*1881T>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335029	NM_002242.4(KCNJ13):c.*2324C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16 +1 more	GUncertain significance
Select item 224857	NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)	GIGYF2, KCNJ13 (W53*)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 16	GPathogenic
Select item 216947	NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	GIGYF2, KCNJ13 (T153I +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 16	GLikely pathogenic
Select item 191155	NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)	GIGYF2, KCNJ13 (I120T +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 16	GPathogenic
Select item 30332	NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)	GIGYF2, KCNJ13 (L241P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Leber congenital amaurosis 16	GPathogenic
Select item 30331	NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)	GIGYF2, KCNJ13 (R166* +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 16	GPathogenic

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Links from MedGen

Items: 59