ClinVar for Gene (Select 91461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213709	NM_138370.3(PKDCC):c.839G>A (p.Arg280His)	PKDCC (R280H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213708	NM_138370.3(PKDCC):c.763A>T (p.Ile255Phe)	PKDCC (I255F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213707	NM_138370.3(PKDCC):c.212C>T (p.Ser71Phe)	PKDCC (S71F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213706	NM_138370.3(PKDCC):c.1360C>T (p.Arg454Trp)	PKDCC (R454W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213705	NM_138370.3(PKDCC):c.1220C>G (p.Thr407Ser)	PKDCC (T407S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3007204	NM_138370.3(PKDCC):c.1389C>G (p.Thr463=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992934	NM_138370.3(PKDCC):c.1140G>A (p.Glu380=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990061	NM_138370.3(PKDCC):c.267C>T (p.Asp89=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989410	NM_138370.3(PKDCC):c.501G>A (p.Ala167=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985805	NM_138370.3(PKDCC):c.362del (p.Pro121fs)	LOC129933565, PKDCC (P121fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2976140	NM_138370.3(PKDCC):c.523C>T (p.Leu175=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973851	NM_138370.3(PKDCC):c.763-13T>C	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973158	NM_138370.3(PKDCC):c.1170C>T (p.His390=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966747	NM_138370.3(PKDCC):c.1005C>T (p.Asn335=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961937	NM_138370.3(PKDCC):c.1114+11C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960758	NM_138370.3(PKDCC):c.1128G>T (p.Trp376Cys)	PKDCC (W376C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960137	NM_138370.3(PKDCC):c.16G>A (p.Ala6Thr)	LOC129933563, PKDCC (A6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957395	NM_138370.3(PKDCC):c.123T>C (p.Pro41=)	LOC129933564, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889288	NM_138370.3(PKDCC):c.1371G>T (p.Val457=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871964	NM_138370.3(PKDCC):c.1197G>A (p.Gln399=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861261	NM_138370.3(PKDCC):c.499del (p.Ala167fs)	LOC129933566, PKDCC (A167fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2843965	NM_138370.3(PKDCC):c.796C>T (p.Leu266=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810564	NM_138370.3(PKDCC):c.1164G>C (p.Val388=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807421	NM_138370.3(PKDCC):c.1115-15C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802673	NM_138370.3(PKDCC):c.1396+19C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781811	NM_138370.3(PKDCC):c.613C>A (p.Arg205=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771794	NM_138370.3(PKDCC):c.1397-17T>C	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753588	NM_138370.3(PKDCC):c.226_235del (p.Gly76fs)	PKDCC (G76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2750324	NM_138370.3(PKDCC):c.456G>A (p.Val152=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747922	NM_138370.3(PKDCC):c.1134G>A (p.Val378=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747039	NM_138370.3(PKDCC):c.915G>A (p.Pro305=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724534	NM_138370.3(PKDCC):c.1206G>A (p.Thr402=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719298	NM_138370.3(PKDCC):c.1290C>T (p.His430=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711077	NM_138370.3(PKDCC):c.882G>A (p.Thr294=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569474	NM_138370.3(PKDCC):c.551T>C (p.Val184Ala)	LOC129933566, PKDCC (V184A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569472	NM_138370.3(PKDCC):c.359G>T (p.Gly120Val)	LOC129933565, PKDCC (G120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569471	NM_138370.3(PKDCC):c.119A>G (p.Glu40Gly)	LOC129933564, PKDCC (E40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554102	NM_138370.3(PKDCC):c.955A>G (p.Arg319Gly)	PKDCC (R319G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518356	NM_138370.3(PKDCC):c.1129G>T (p.Gly377Trp)	PKDCC (G377W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510947	NM_138370.3(PKDCC):c.761G>A (p.Arg254Gln)	PKDCC (R254Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496568	NM_138370.3(PKDCC):c.895G>C (p.Ala299Pro)	PKDCC (A299P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479833	NM_138370.3(PKDCC):c.1123G>T (p.Ala375Ser)	PKDCC (A375S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2417719	NM_138370.3(PKDCC):c.684C>T (p.Thr228=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407751	NM_138370.3(PKDCC):c.548G>A (p.Gly183Glu)	LOC129933566, PKDCC (G183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380986	NM_138370.3(PKDCC):c.898C>A (p.Arg300Ser)	PKDCC (R300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376382	NM_138370.3(PKDCC):c.47T>G (p.Phe16Cys)	LOC129933563, PKDCC (F16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336840	NM_138370.3(PKDCC):c.1357T>G (p.Cys453Gly)	PKDCC (C453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315723	NM_138370.3(PKDCC):c.391G>T (p.Gly131Cys)	LOC129933565, PKDCC (G131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314089	NM_138370.3(PKDCC):c.320C>T (p.Pro107Leu)	PKDCC (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299226	NM_138370.3(PKDCC):c.726C>G (p.Ile242Met)	PKDCC (I242M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285331	NM_138370.3(PKDCC):c.111G>C (p.Gln37His)	LOC129933564, PKDCC (Q37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206271	NM_138370.3(PKDCC):c.808C>A (p.Pro270Thr)	PKDCC (P270T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203051	NM_138370.3(PKDCC):c.1223A>G (p.Glu408Gly)	PKDCC (E408G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200116	NM_138370.3(PKDCC):c.1127G>C (p.Trp376Ser)	PKDCC (W376S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191483	NM_138370.3(PKDCC):c.1164G>T (p.Val388=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190408	NM_138370.3(PKDCC):c.640-5C>G	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189426	NM_138370.3(PKDCC):c.1205C>T (p.Thr402Met)	PKDCC (T402M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187139	NM_138370.3(PKDCC):c.1240G>A (p.Asp414Asn)	PKDCC (D414N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174232	NM_138370.3(PKDCC):c.1128G>C (p.Trp376Cys)	PKDCC (W376C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153427	NM_138370.3(PKDCC):c.781C>T (p.Arg261Cys)	PKDCC (R261C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124340	NM_138370.3(PKDCC):c.525G>A (p.Leu175=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113408	NM_138370.3(PKDCC):c.640-19T>C	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094149	NM_138370.3(PKDCC):c.199G>C (p.Val67Leu)	LOC129933564, PKDCC (V67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093673	NM_138370.3(PKDCC):c.1210A>G (p.Ser404Gly)	PKDCC (S404G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070048	NM_138370.3(PKDCC):c.782G>A (p.Arg261His)	PKDCC (R261H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065028	NM_138370.3(PKDCC):c.993C>T (p.Cys331=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063779	NM_138370.3(PKDCC):c.1034+8C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056590	NM_138370.3(PKDCC):c.914C>T (p.Pro305Leu)	PKDCC (P305L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049781	NM_138370.3(PKDCC):c.1243A>G (p.Ser415Gly)	PKDCC (S415G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2031018	NM_138370.3(PKDCC):c.881C>T (p.Thr294Met)	PKDCC (T294M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029963	NM_138370.3(PKDCC):c.1114+8C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005315	NM_138370.3(PKDCC):c.1328C>G (p.Ala443Gly)	PKDCC (A443G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002227	NM_138370.3(PKDCC):c.1440C>T (p.Val480=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993094	NM_138370.3(PKDCC):c.942C>T (p.Leu314=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991323	NM_138370.3(PKDCC):c.141G>A (p.Pro47=)	LOC129933564, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990154	NM_138370.3(PKDCC):c.453C>G (p.Ala151=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989157	NM_138370.3(PKDCC):c.308C>G (p.Pro103Arg)	PKDCC (P103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1988899	NM_138370.3(PKDCC):c.276G>C (p.Pro92=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986184	NM_138370.3(PKDCC):c.643T>C (p.Tyr215His)	PKDCC (Y215H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984402	NM_138370.3(PKDCC):c.1213A>C (p.Ser405Arg)	PKDCC (S405R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955691	NM_138370.3(PKDCC):c.369C>G (p.Ser123=)	LOC129933565, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953657	NM_138370.3(PKDCC):c.364G>T (p.Gly122Cys)	LOC129933565, PKDCC (G122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949642	NM_138370.3(PKDCC):c.845G>A (p.Arg282Gln)	PKDCC (R282Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947336	NM_138370.3(PKDCC):c.222C>G (p.Gly74=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943729	NM_138370.3(PKDCC):c.441C>A (p.Gly147=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942112	NM_138370.3(PKDCC):c.338C>G (p.Pro113Arg)	PKDCC (P113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941831	NM_138370.3(PKDCC):c.380G>A (p.Gly127Asp)	LOC129933565, PKDCC (G127D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928985	NM_138370.3(PKDCC):c.351G>A (p.Pro117=)	LOC129933565, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927790	NM_138370.3(PKDCC):c.943G>A (p.Glu315Lys)	PKDCC (E315K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925027	NM_138370.3(PKDCC):c.779G>C (p.Gly260Ala)	PKDCC (G260A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923448	NM_138370.3(PKDCC):c.762+20C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911981	NM_138370.3(PKDCC):c.1129G>C (p.Gly377Arg)	PKDCC (G377R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908594	NM_138370.3(PKDCC):c.763-17T>C	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905239	NM_138370.3(PKDCC):c.347C>T (p.Pro116Leu)	LOC129933565, PKDCC (P116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905060	NM_138370.3(PKDCC):c.590T>G (p.Leu197Arg)	LOC129933566, PKDCC (L197R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904598	NM_138370.3(PKDCC):c.483C>T (p.Ala161=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904497	NM_138370.3(PKDCC):c.60C>T (p.Ser20=)	LOC129933563, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902714	NM_138370.3(PKDCC):c.276G>A (p.Pro92=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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