ClinVar for MedGen (Select 481692) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 59

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9784341.	NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile) GRCh37: Chr2:233635759 GRCh38: Chr2:232771049	GIGYF2, KCNJ13	S105I, S25I	Leber congenital amaurosis 16	Likely pathogenic	no assertion criteria provided
Select item 9784332.	NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter) GRCh37: Chr2:233633329 GRCh38: Chr2:232768619	GIGYF2, KCNJ13	Q139, Q219	Leber congenital amaurosis 16	Pathogenic	no assertion criteria provided
Select item 9784323.	NM_002242.4(KCNJ13):c.494del (p.Asn165fs) GRCh37: Chr2:233633490 GRCh38: Chr2:232768780	GIGYF2, KCNJ13	K86fs, N165fs, N85fs	Leber congenital amaurosis 16	Pathogenic	no assertion criteria provided
Select item 9167174.	NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) GRCh37: Chr2:233635642 GRCh38: Chr2:232770932	KCNJ13, GIGYF2	L144P, L64P	Leber congenital amaurosis 16	Uncertain significance	no assertion criteria provided
Select item 8993215.	NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) GRCh37: Chr2:233633499 GRCh38: Chr2:232768789	GIGYF2, KCNJ13	R162Q, R82Q	not provided, Leber congenital amaurosis 16	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8993206.	NM_002242.4(KCNJ13):c.870G>A (p.Pro290=) GRCh37: Chr2:233633114 GRCh38: Chr2:232768404	GIGYF2, KCNJ13		not provided, Leber congenital amaurosis 16	Conflicting interpretations of pathogenicity (May 9, 2022)	criteria provided, conflicting interpretations
Select item 8993197.	NM_001103146.3(GIGYF2):c.532+6687A>G GRCh37: Chr2:233632833 GRCh38: Chr2:232768123	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8992638.	NM_001103146.3(GIGYF2):c.532+5037A>G GRCh37: Chr2:233631183 GRCh38: Chr2:232766473	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8992629.	NM_001103146.3(GIGYF2):c.532+4998T>A GRCh37: Chr2:233631144 GRCh38: Chr2:232766434	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89926110.	NM_001103146.3(GIGYF2):c.532+4748A>C GRCh37: Chr2:233630894 GRCh38: Chr2:232766184	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89821411.	NM_001103146.3(GIGYF2):c.532+6429T>C GRCh37: Chr2:233632575 GRCh38: Chr2:232767865	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89816212.	NM_001103146.3(GIGYF2):c.532+4602C>T GRCh37: Chr2:233630748 GRCh38: Chr2:232766038	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89816113.	NM_001103146.3(GIGYF2):c.532+4530C>T GRCh37: Chr2:233630676 GRCh38: Chr2:232765966	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89658914.	NM_001103146.3(GIGYF2):c.532+6288T>G GRCh37: Chr2:233632434 GRCh38: Chr2:232767724	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89658815.	NM_001103146.3(GIGYF2):c.532+6140G>A GRCh37: Chr2:233632286 GRCh38: Chr2:232767576	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89658716.	NM_001103146.3(GIGYF2):c.532+6135C>T GRCh37: Chr2:233632281 GRCh38: Chr2:232767571	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89658617.	NM_001103146.3(GIGYF2):c.532+5971A>G GRCh37: Chr2:233632117 GRCh38: Chr2:232767407	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89658518.	NM_001103146.3(GIGYF2):c.532+5899T>C GRCh37: Chr2:233632045 GRCh38: Chr2:232767335	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89523119.	NM_002242.4(KCNJ13):c.125G>C (p.Arg42Pro) GRCh37: Chr2:233635948 GRCh38: Chr2:232771238	GIGYF2, KCNJ13	R42P	Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89523020.	NM_002242.4(KCNJ13):c.141C>T (p.Ile47=) GRCh37: Chr2:233635932 GRCh38: Chr2:232771222	GIGYF2, KCNJ13		not provided, Leber congenital amaurosis 16	Conflicting interpretations of pathogenicity (Feb 24, 2022)	criteria provided, conflicting interpretations
Select item 89522921.	NM_002242.4(KCNJ13):c.242T>C (p.Met81Thr) GRCh37: Chr2:233635831 GRCh38: Chr2:232771121	GIGYF2, KCNJ13	M1T, M81T	Leber congenital amaurosis 16, not provided	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89516922.	NM_001103146.3(GIGYF2):c.532+5596A>G GRCh37: Chr2:233631742 GRCh38: Chr2:232767032	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89516823.	NM_001103146.3(GIGYF2):c.532+5560C>A GRCh37: Chr2:233631706 GRCh38: Chr2:232766996	KCNJ13, GIGYF2		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89516724.	NM_001103146.3(GIGYF2):c.532+5202A>C GRCh37: Chr2:233631348 GRCh38: Chr2:232766638	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89516625.	NM_001103146.3(GIGYF2):c.532+5120A>G GRCh37: Chr2:233631266 GRCh38: Chr2:232766556	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33506126.	NM_001103146.3(GIGYF2):c.533-10612T>A GRCh37: Chr2:233641248 GRCh38: Chr2:232776538	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33506027.	NM_001103146.3(GIGYF2):c.533-10648G>A GRCh37: Chr2:233641212 GRCh38: Chr2:232776502	KCNJ13, GIGYF2		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33505928.	NM_001103146.3(GIGYF2):c.533-10649A>G GRCh37: Chr2:233641211 GRCh38: Chr2:232776501	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33505729.	NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) GRCh37: Chr2:233633510 GRCh38: Chr2:232768800	KCNJ13, GIGYF2	E80K	not provided, Leber congenital amaurosis 16	Conflicting interpretations of pathogenicity (Jun 17, 2022)	criteria provided, conflicting interpretations
Select item 33505630.	NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) GRCh37: Chr2:233633460 GRCh38: Chr2:232768750	GIGYF2, KCNJ13	T175I, T95I	not provided, Leber congenital amaurosis 16	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33505531.	NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) GRCh37: Chr2:233633436 GRCh38: Chr2:232768726	GIGYF2, KCNJ13	G183D, G103D	Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33505432.	NM_002242.4(KCNJ13):c.621A>G (p.Val207=) GRCh37: Chr2:233633363 GRCh38: Chr2:232768653	KCNJ13, GIGYF2		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33505333.	NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) GRCh37: Chr2:233633295 GRCh38: Chr2:232768585	GIGYF2, KCNJ13	S230N, S150N	not provided, Inborn genetic diseases, Leber congenital amaurosis 16	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33505234.	NM_001103146.3(GIGYF2):c.532+6661T>G GRCh37: Chr2:233632807 GRCh38: Chr2:232768097	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33505135.	NM_001103146.3(GIGYF2):c.532+6653A>C GRCh37: Chr2:233632799 GRCh38: Chr2:232768089	KCNJ13, GIGYF2		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33505036.	NM_001103146.3(GIGYF2):c.532+6634T>C GRCh37: Chr2:233632780 GRCh38: Chr2:232768070	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33504937.	NM_001103146.3(GIGYF2):c.532+6620T>C GRCh37: Chr2:233632766 GRCh38: Chr2:232768056	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33504738.	NM_001103146.3(GIGYF2):c.532+6499C>T GRCh37: Chr2:233632645 GRCh38: Chr2:232767935	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33504639.	NM_001103146.3(GIGYF2):c.532+6465A>G GRCh37: Chr2:233632611 GRCh38: Chr2:232767901	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 33504540.	NM_001103146.3(GIGYF2):c.532+6413T>C GRCh37: Chr2:233632559 GRCh38: Chr2:232767849	KCNJ13, GIGYF2		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33504441.	NM_001103146.3(GIGYF2):c.532+6384A>G GRCh37: Chr2:233632530 GRCh38: Chr2:232767820	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33504342.	NM_001103146.3(GIGYF2):c.532+6136G>A GRCh37: Chr2:233632282 GRCh38: Chr2:232767572	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33504243.	NM_001103146.3(GIGYF2):c.532+6063A>G GRCh37: Chr2:233632209 GRCh38: Chr2:232767499	KCNJ13, GIGYF2		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33504144.	NM_001103146.3(GIGYF2):c.532+5994G>A GRCh37: Chr2:233632140 GRCh38: Chr2:232767430	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33504045.	NM_001103146.3(GIGYF2):c.532+5798T>C GRCh37: Chr2:233631944 GRCh38: Chr2:232767234	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33503946.	NM_001103146.3(GIGYF2):c.532+5667A>G GRCh37: Chr2:233631813 GRCh38: Chr2:232767103	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33503847.	NM_001103146.3(GIGYF2):c.532+5554G>A GRCh37: Chr2:233631700 GRCh38: Chr2:232766990	GIGYF2, KCNJ13		not provided, Leber congenital amaurosis 16	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 33503648.	NM_001103146.3(GIGYF2):c.532+5255C>T GRCh37: Chr2:233631401 GRCh38: Chr2:232766691	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33503449.	NM_001103146.3(GIGYF2):c.532+4997A>T GRCh37: Chr2:233631143 GRCh38: Chr2:232766433	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33503350.	NM_001103146.3(GIGYF2):c.532+4951C>T GRCh37: Chr2:233631097 GRCh38: Chr2:232766387	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33503251.	NM_001103146.3(GIGYF2):c.532+4916T>C GRCh37: Chr2:233631062 GRCh38: Chr2:232766352	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33503152.	NM_001103146.3(GIGYF2):c.532+4888A>G GRCh37: Chr2:233631034 GRCh38: Chr2:232766324	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33503053.	NM_001103146.3(GIGYF2):c.532+4874A>T GRCh37: Chr2:233631020 GRCh38: Chr2:232766310	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33502954.	NM_001103146.3(GIGYF2):c.532+4431G>A GRCh37: Chr2:233630577 GRCh38: Chr2:232765867	GIGYF2, KCNJ13		Leber congenital amaurosis 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22485755.	NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) GRCh37: Chr2:233635915 GRCh38: Chr2:232771205	KCNJ13, GIGYF2	W53*	Leber congenital amaurosis 16	Pathogenic (Mar 31, 2016)	no assertion criteria provided
Select item 21694756.	NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) GRCh37: Chr2:233635615 GRCh38: Chr2:232770905	GIGYF2, KCNJ13	T153I, T73I	Leber congenital amaurosis 16	Likely pathogenic (Nov 20, 2012)	criteria provided, single submitter
Select item 19115557.	NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) GRCh37: Chr2:233635714 GRCh38: Chr2:232771004	GIGYF2, KCNJ13	I120T, I40T	Leber congenital amaurosis 16, not provided	Pathogenic/Likely pathogenic (Mar 31, 2016)	no assertion criteria provided
Select item 3033258.	NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) GRCh37: Chr2:233633262 GRCh38: Chr2:232768552	GIGYF2, KCNJ13	L241P, L161P	Leber congenital amaurosis 16	Pathogenic (Jul 15, 2011)	no assertion criteria provided
Select item 3033159.	NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) GRCh37: Chr2:233633488 GRCh38: Chr2:232768778	GIGYF2, KCNJ13	R166, S87L, R86	Leber congenital amaurosis 16	Pathogenic (Jul 15, 2011)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 59