ClinVar for Gene (Select 2697) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3235928	NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)	GJA1 (G60A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 3233891	NM_000165.5(GJA1):c.1066C>A (p.Leu356Ile)	GJA1 (L356I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099928	NM_000165.5(GJA1):c.460A>G (p.Thr154Ala)	GJA1 (T154A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 3099927	NM_000165.5(GJA1):c.1129C>T (p.Pro377Ser)	GJA1 (P377S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064131	NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter)	GJA1 (Y230*)	Single nucleotide variant (nonsense)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3010285	NM_000165.5(GJA1):c.539G>T (p.Ser180Ile)	GJA1 (S180I)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2955492	NM_000165.5(GJA1):c.219T>C (p.Ser73=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2912997	NM_000165.5(GJA1):c.952A>C (p.Asn318His)	GJA1 (N318H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2909257	NM_000165.5(GJA1):c.528C>G (p.Ile176Met)	GJA1 (I176M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2907846	NM_000165.5(GJA1):c.882C>G (p.Asn294Lys)	GJA1 (N294K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2887584	NM_000165.5(GJA1):c.466A>G (p.Ile156Val)	GJA1 (I156V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2884932	NM_000165.5(GJA1):c.747G>C (p.Ala249=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2881941	NM_000165.5(GJA1):c.1055A>T (p.Glu352Val)	GJA1 (E352V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2880971	NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)	GJA1 (E110K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2866250	NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)	GJA1 (G120A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2858640	NM_000165.5(GJA1):c.682C>T (p.Leu228Phe)	GJA1 (L228F)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2858355	NM_000165.5(GJA1):c.606C>A (p.Arg202=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2857408	NM_000165.5(GJA1):c.184G>A (p.Glu62Lys)	GJA1 (E62K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2853092	NM_000165.5(GJA1):c.103C>T (p.Leu35=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2848337	NM_000165.5(GJA1):c.908A>G (p.Lys303Arg)	GJA1 (K303R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2837241	NM_000165.5(GJA1):c.736C>A (p.Pro246Thr)	GJA1 (P246T)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2833842	NM_000165.5(GJA1):c.969G>A (p.Ala323=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2833020	NM_000165.5(GJA1):c.711G>C (p.Lys237Asn)	GJA1 (K237N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2826075	NM_000165.5(GJA1):c.430A>T (p.Lys144Ter)	GJA1 (K144*)	Single nucleotide variant (nonsense)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2816251	NM_000165.5(GJA1):c.283C>T (p.His95Tyr)	GJA1 (H95Y)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2812389	NM_000165.5(GJA1):c.847CCT[1] (p.Pro284del)	GJA1 (P284del)	Microsatellite (inframe_deletion)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2808739	NM_000165.5(GJA1):c.831C>T (p.Pro277=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2795551	NM_000165.5(GJA1):c.733G>A (p.Asp245Asn)	GJA1 (D245N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2769923	NM_000165.5(GJA1):c.393G>A (p.Glu131=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2753583	NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)	GJA1 (Y66C)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2748341	NM_000165.5(GJA1):c.330G>A (p.Glu110=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2747051	NM_000165.5(GJA1):c.413G>T (p.Gly138Val)	GJA1 (G138V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2738608	NM_000165.5(GJA1):c.867T>A (p.Val289=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2735522	NM_000165.5(GJA1):c.746C>T (p.Ala249Val)	GJA1 (A249V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2734941	NM_000165.5(GJA1):c.977C>T (p.Thr326Ile)	GJA1 (T326I)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2734940	NM_000165.5(GJA1):c.287T>C (p.Val96Ala)	GJA1 (V96A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2734939	NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)	GJA1 (R76C)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 2734938	NM_000165.5(GJA1):c.121G>C (p.Val41Leu)	GJA1 (V41L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 2731418	NM_000165.5(GJA1):c.875A>T (p.Asp292Val)	GJA1 (D292V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2724396	NM_000165.5(GJA1):c.654G>A (p.Leu218=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2718313	NM_000165.5(GJA1):c.1075G>A (p.Val359Met)	GJA1 (V359M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2705428	NM_000165.5(GJA1):c.32T>A (p.Leu11His)	GJA1 (L11H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 2702265	NM_000165.5(GJA1):c.655G>C (p.Val219Leu)	GJA1 (V219L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2636857	NM_000165.5(GJA1):c.1142A>C (p.Glu381Ala)	GJA1 (E381A)	Single nucleotide variant (missense variant)	GJA1-related disorder	GUncertain significance
Select item 2633062	NM_000165.5(GJA1):c.1126C>T (p.Arg376Trp)	GJA1 (R376W)	Single nucleotide variant (missense variant)	GJA1-related disorder	GUncertain significance
Select item 2632485	NM_000165.5(GJA1):c.676A>G (p.Ile226Val)	GJA1 (I226V)	Single nucleotide variant (missense variant)	GJA1-related disorder	GUncertain significance
Select item 2628335	NM_000165.5(GJA1):c.602C>T (p.Ser201Phe)	GJA1 (S201F)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 2614861	NM_000165.5(GJA1):c.1031C>G (p.Ser344Cys)	GJA1 (S344C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2504787	NM_000165.5(GJA1):c.643G>T (p.Val215Leu)	GJA1 (V215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428806	NM_000165.5(GJA1):c.37A>G (p.Lys13Glu)	GJA1 (K13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420621	NM_000165.5(GJA1):c.927C>T (p.Asn309=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2244378	NM_000165.5(GJA1):c.1118G>C (p.Ser373Thr)	GJA1 (S373T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194847	NM_000165.5(GJA1):c.747G>A (p.Ala249=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2185470	NM_000165.5(GJA1):c.826G>A (p.Ala276Thr)	GJA1 (A276T)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2184101	NM_000165.5(GJA1):c.875A>G (p.Asp292Gly)	GJA1 (D292G)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2173415	NM_000165.5(GJA1):c.492C>T (p.Ile164=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2169516	NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)	GJA1 (G38E)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 2153879	NM_000165.5(GJA1):c.503C>G (p.Ala168Gly)	GJA1 (A168G)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2149839	NM_000165.5(GJA1):c.651C>A (p.Ser217=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2148493	NM_000165.5(GJA1):c.158G>A (p.Arg53His)	GJA1 (R53H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2143199	NM_000165.5(GJA1):c.302G>A (p.Arg101Gln)	GJA1 (R101Q)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2136457	NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)	GJA1 (T154N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 2136231	NM_000165.5(GJA1):c.461C>T (p.Thr154Ile)	GJA1 (T154I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2128576	NM_000165.5(GJA1):c.1114A>G (p.Ser372Gly)	GJA1 (S372G)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2120526	NM_000165.5(GJA1):c.545G>A (p.Ser182Asn)	GJA1 (S182N)	Single nucleotide variant (missense variant)	GJA1-related disorder +1 more	GUncertain significance
Select item 2114301	NM_000165.5(GJA1):c.152C>G (p.Ala51Gly)	GJA1 (A51G)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2086151	NM_000165.5(GJA1):c.81A>G (p.Ser27=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2082430	NM_000165.5(GJA1):c.956G>A (p.Arg319Gln)	GJA1 (R319Q)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2082427	NM_000165.5(GJA1):c.992A>T (p.His331Leu)	GJA1 (H331L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2071630	NM_000165.5(GJA1):c.528C>A (p.Ile176=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2068380	NM_000165.5(GJA1):c.1146C>T (p.Ile382=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2061100	NM_000165.5(GJA1):c.852T>G (p.Pro284=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2046618	NM_000165.5(GJA1):c.1137C>A (p.Asp379Glu)	GJA1 (D379E)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2045241	NM_000165.5(GJA1):c.981C>G (p.Ile327Met)	GJA1 (I327M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2036892	NM_000165.5(GJA1):c.937_945dup (p.Ala315_Glu316insTyrSerAla)	GJA1	Duplication (inframe_insertion)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2033139	NM_000165.5(GJA1):c.942T>C (p.Ser314=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2028891	NM_000165.5(GJA1):c.954T>C (p.Asn318=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2014277	NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)	GJA1 (R153Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2013315	NM_000165.5(GJA1):c.501G>A (p.Val167=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2012851	NM_000165.5(GJA1):c.445G>A (p.Gly149Arg)	GJA1 (G149R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2012354	NM_000165.5(GJA1):c.402G>C (p.Lys134Asn)	GJA1 (K134N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2002272	NM_000165.5(GJA1):c.645G>A (p.Val215=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1996897	NM_000165.5(GJA1):c.861G>T (p.Lys287Asn)	GJA1 (K287N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1992927	NM_000165.5(GJA1):c.832C>T (p.Leu278Phe)	GJA1 (L278F)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive +1 more	GUncertain significance
Select item 1981823	NM_000165.5(GJA1):c.180T>C (p.Gly60=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1980938	NM_000165.5(GJA1):c.361G>A (p.Val121Ile)	GJA1 (V121I)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1974849	NM_000165.5(GJA1):c.264C>T (p.Pro88=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1968290	NM_000165.5(GJA1):c.759G>T (p.Ala253=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1966878	NM_000165.5(GJA1):c.493T>C (p.Phe165Leu)	GJA1 (F165L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1923919	NM_000165.5(GJA1):c.489T>A (p.Ser163=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1904972	NM_000165.5(GJA1):c.851C>T (p.Pro284Leu)	GJA1 (P284L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808541	GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3	CLVS2, FABP7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance

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