ClinVar for Gene (Select 3777) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287692	NM_002246.3(KCNK3):c.148G>A (p.Ala50Thr)	KCNK3 (A50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287691	NM_002246.3(KCNK3):c.190C>G (p.Arg64Gly)	KCNK3 (R64G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257560	NM_002246.3(KCNK3):c.763A>G (p.Lys255Glu)	KCNK3 (K255E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247401	NC_000002.11:g.(?_26915744)_(26951436_?)dup	KCNK3	Duplication	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3113404	NM_002246.3(KCNK3):c.741G>A (p.Met247Ile)	KCNK3 (M247I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113403	NM_002246.3(KCNK3):c.1076G>T (p.Arg359Leu)	KCNK3 (R359L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039976	NM_002246.3(KCNK3):c.-2C>A	KCNK3	Single nucleotide variant (5 prime UTR variant)	KCNK3-related disorder	GLikely benign
Select item 3008454	NM_002246.3(KCNK3):c.1123T>A (p.Ser375Thr)	KCNK3 (S375T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2983188	NM_002246.3(KCNK3):c.933G>A (p.Ser311=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2973821	NM_002246.3(KCNK3):c.24G>C (p.Thr8=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GBenign
Select item 2968526	NM_002246.3(KCNK3):c.801C>A (p.Asn267Lys)	KCNK3 (N267K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2920534	NM_002246.3(KCNK3):c.989C>A (p.Pro330Gln)	KCNK3 (P330Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2918801	NM_002246.3(KCNK3):c.954C>T (p.Arg318=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2916087	NM_002246.3(KCNK3):c.202C>A (p.Arg68Ser)	KCNK3 (R68S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2901536	NM_002246.3(KCNK3):c.1047G>A (p.Gly349=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2898407	NM_002246.3(KCNK3):c.1045G>A (p.Gly349Arg)	KCNK3 (G349R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2895465	NM_002246.3(KCNK3):c.973A>C (p.Ile325Leu)	KCNK3 (I325L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2889515	NM_002246.3(KCNK3):c.465C>T (p.Ser155=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2876867	NM_002246.3(KCNK3):c.283+5C>T	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2867972	NM_002246.3(KCNK3):c.769G>A (p.Asp257Asn)	KCNK3 (D257N)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2863539	NM_002246.3(KCNK3):c.504C>G (p.Ile168Met)	KCNK3 (I168M)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2859865	NM_002246.3(KCNK3):c.40T>G (p.Cys14Gly)	KCNK3 (C14G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2851228	NM_002246.3(KCNK3):c.330del (p.Phe109_Cys110insTer)	KCNK3	Deletion (nonsense)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2851118	NM_002246.3(KCNK3):c.1005G>A (p.Thr335=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2846283	NM_002246.3(KCNK3):c.213G>T (p.Pro71=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2816226	NM_002246.3(KCNK3):c.108C>T (p.Ile36=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2796388	NM_002246.3(KCNK3):c.1009G>A (p.Asp337Asn)	KCNK3 (D337N)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2767948	NM_002246.3(KCNK3):c.152G>T (p.Arg51Leu)	KCNK3 (R51L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2744310	NM_002246.3(KCNK3):c.535T>C (p.Ser179Pro)	KCNK3 (S179P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2728109	NM_002246.3(KCNK3):c.133_147dup (p.Arg49_Ala50insGlnGlnGluLeuArg)	KCNK3	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2724139	NM_002246.3(KCNK3):c.817G>A (p.Gly273Ser)	KCNK3 (G273S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2716259	NM_002246.3(KCNK3):c.1071C>A (p.Pro357=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2575849	NM_002246.3(KCNK3):c.709G>A (p.Ala237Thr)	KCNK3 (A237T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569360	NM_002246.3(KCNK3):c.1100C>A (p.Pro367Gln)	KCNK3 (P367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569359	NM_002246.3(KCNK3):c.1076G>A (p.Arg359Gln)	KCNK3 (R359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504974	NM_002246.3(KCNK3):c.-128G>C	KCNK3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2446440	NM_002246.3(KCNK3):c.607G>C (p.Gly203Arg)	KCNK3 (G203R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GPathogenic
Select item 2429850	NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly)	KCNK3 (D211G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429849	NM_002246.3(KCNK3):c.460G>A (p.Val154Met)	KCNK3 (V154M)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2415565	NM_002246.3(KCNK3):c.802G>T (p.Gly268Trp)	KCNK3 (G268W)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2307723	NM_002246.3(KCNK3):c.948G>C (p.Lys316Asn)	KCNK3 (K316N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282779	NM_002246.3(KCNK3):c.83C>T (p.Ala28Val)	KCNK3 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276371	NM_002246.3(KCNK3):c.809C>T (p.Ala270Val)	KCNK3 (A270V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262625	NM_002246.3(KCNK3):c.1046G>A (p.Gly349Glu)	KCNK3 (G349E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239937	NM_002246.3(KCNK3):c.323T>G (p.Val108Gly)	KCNK3 (V108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189636	NM_002246.3(KCNK3):c.1002C>A (p.Ser334=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2165573	NM_002246.3(KCNK3):c.448C>A (p.Arg150=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2153100	NM_002246.3(KCNK3):c.1149C>T (p.Thr383=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2151496	NM_002246.3(KCNK3):c.1113C>T (p.Ile371=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2150464	NM_002246.3(KCNK3):c.1176C>T (p.Ser392=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2104013	NM_002246.3(KCNK3):c.826G>T (p.Gly276Cys)	KCNK3 (G276C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2085352	NM_002246.3(KCNK3):c.880G>A (p.Gly294Ser)	KCNK3 (G294S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2084560	NM_002246.3(KCNK3):c.610G>A (p.Asp204Asn)	KCNK3 (D204N)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2067650	NM_002246.3(KCNK3):c.178G>C (p.Glu60Gln)	KCNK3 (E60Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2066383	NM_002246.3(KCNK3):c.997C>G (p.Leu333Val)	KCNK3 (L333V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2066267	NM_002246.3(KCNK3):c.1159C>T (p.Leu387Phe)	KCNK3 (L387F)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2065413	NM_002246.3(KCNK3):c.283+20G>A	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2041227	NM_002246.3(KCNK3):c.283+18G>C	KCNK3	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2038807	NM_002246.3(KCNK3):c.824G>C (p.Gly275Ala)	KCNK3 (G275A)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2037067	NM_002246.3(KCNK3):c.997C>T (p.Leu333Phe)	KCNK3 (L333F)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2036963	NM_002246.3(KCNK3):c.955G>A (p.Glu319Lys)	KCNK3 (E319K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2032347	NM_002246.3(KCNK3):c.284-8del	KCNK3	Deletion (intron variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 2030221	NM_002246.3(KCNK3):c.1068G>A (p.Thr356=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1989515	NM_002246.3(KCNK3):c.1048G>A (p.Gly350Ser)	KCNK3 (G350S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1983665	NM_002246.3(KCNK3):c.972C>T (p.Ser324=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1962227	NM_002246.3(KCNK3):c.567C>T (p.Ala189=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1956684	NM_002246.3(KCNK3):c.640C>T (p.Leu214=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1952589	NM_002246.3(KCNK3):c.744C>T (p.Thr248=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1944611	NM_002246.3(KCNK3):c.93G>C (p.Ser31=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1940468	NM_002246.3(KCNK3):c.29C>A (p.Ala10Glu)	KCNK3 (A10E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1939909	NM_002246.3(KCNK3):c.220G>T (p.Ala74Ser)	KCNK3 (A74S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1923235	NM_002246.3(KCNK3):c.753C>T (p.Ala251=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1902810	NM_002246.3(KCNK3):c.342G>A (p.Ala114=)	KCNK3	Single nucleotide variant (synonymous variant)	KCNK3-related disorder +1 more	GLikely benign
Select item 1901815	NM_002246.3(KCNK3):c.1054C>T (p.Arg352Cys)	KCNK3 (R352C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1900683	NM_002246.3(KCNK3):c.877G>T (p.Gly293Cys)	KCNK3 (G293C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1714621	NM_002246.3(KCNK3):c.102G>T (p.Glu34Asp)	KCNK3 (E34D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1712193	NC_000002.12:g.26692489CT[5]	KCNK3	Microsatellite	not provided	GLikely benign
Select item 1709998	NM_002246.3(KCNK3):c.1021G>A (p.Glu341Lys)	KCNK3 (E341K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1706629	NM_002246.3(KCNK3):c.571_573delinsCAA (p.Tyr191Gln)	KCNK3 (Y191Q)	Indel (missense variant)	Pulmonary arterial hypertension	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1698316	NM_002246.3(KCNK3):c.244G>A (p.Gly82Ser)	KCNK3 (G82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1673216	NM_002246.3(KCNK3):c.1032C>T (p.His344=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1664094	NM_002246.3(KCNK3):c.1071C>T (p.Pro357=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1631390	NM_002246.3(KCNK3):c.439C>T (p.Leu147=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1622703	NM_002246.3(KCNK3):c.249C>T (p.Ser83=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1620523	NM_002246.3(KCNK3):c.978C>G (p.Pro326=)	KCNK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1610642	NM_002246.3(KCNK3):c.480G>T (p.Val160=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1598272	NM_002246.3(KCNK3):c.309G>A (p.Thr103=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1570038	NM_002246.3(KCNK3):c.39G>A (p.Val13=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1567191	NM_002246.3(KCNK3):c.1125C>T (p.Ser375=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1566696	NM_002246.3(KCNK3):c.363G>A (p.Thr121=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1565956	NM_002246.3(KCNK3):c.885C>G (p.Gly295=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1562191	NM_002246.3(KCNK3):c.324G>T (p.Val108=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1561724	NM_002246.3(KCNK3):c.795G>A (p.Thr265=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1551604	NM_002246.3(KCNK3):c.309G>T (p.Thr103=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign

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