ClinVar for Gene (Select 8192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3145958	NM_006012.4(CLPP):c.246G>T (p.Glu82Asp)	CLPP, LOC130063288 (E82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145956	NM_006012.4(CLPP):c.172C>T (p.Leu58Phe)	CLPP (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145955	NM_006012.4(CLPP):c.128C>T (p.Ala43Val)	CLPP (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068435	NM_006012.2(CLPP):c.-995_270+222del	CLPP, LOC130063288	Deletion	Perrault syndrome 3	GLikely pathogenic
Select item 3047377	NM_006012.4(CLPP):c.556-14_556-4del	CLPP	Deletion (intron variant)	CLPP-related disorder	GLikely benign
Select item 3044127	NM_006012.4(CLPP):c.481G>A (p.Ala161Thr)	CLPP (A161T)	Single nucleotide variant (missense variant)	CLPP-related disorder	GUncertain significance
Select item 3029167	NM_006012.4(CLPP):c.355A>G (p.Ile119Val)	CLPP (I119V)	Single nucleotide variant (missense variant)	CLPP-related disorder	GUncertain significance
Select item 2998411	NM_006012.4(CLPP):c.441C>T (p.Cys147=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991077	NM_006012.4(CLPP):c.363C>T (p.Ser121=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982593	NM_006012.4(CLPP):c.199-4C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977449	NM_006012.4(CLPP):c.270+12G>C	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974759	NM_006012.4(CLPP):c.270+15C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974191	NM_006012.4(CLPP):c.39G>T (p.Ala13=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967186	NM_006012.4(CLPP):c.199-11T>G	LOC130063288, CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965912	NM_006012.4(CLPP):c.573T>C (p.Ile191=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908079	NM_006012.4(CLPP):c.372T>C (p.Gly124=)	CLPP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2902153	NM_006012.4(CLPP):c.687C>T (p.Tyr229=)	CLPP	Single nucleotide variant (synonymous variant)	CLPP-related disorder +1 more	GLikely benign
Select item 2813266	NM_006012.4(CLPP):c.252C>T (p.Ile84=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809585	NM_006012.4(CLPP):c.556-7C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788196	NM_006012.4(CLPP):c.30C>G (p.Ala10=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756337	NM_006012.4(CLPP):c.360C>T (p.Asn120=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723996	NM_006012.4(CLPP):c.804G>A (p.Pro268=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2716761	NM_006012.4(CLPP):c.627C>T (p.Tyr209=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712961	NM_006012.4(CLPP):c.315C>T (p.Phe105=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704979	NM_006012.4(CLPP):c.18G>A (p.Leu6=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2682512	NM_006012.4(CLPP):c.533A>G (p.His178Arg)	CLPP (H178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584518	NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)	CLPP (G162S)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
Select item 2579749	NM_006012.4(CLPP):c.383_399dup (p.Asp134fs)	CLPP (D134fs)	Duplication (frameshift variant)	Perrault syndrome 1	GPathogenic
Select item 2558185	NM_006012.4(CLPP):c.121G>A (p.Gly41Ser)	CLPP (G41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545662	NM_006012.4(CLPP):c.106C>G (p.Arg36Gly)	CLPP (R36G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543569	NM_006012.4(CLPP):c.365C>T (p.Pro122Leu)	CLPP (P122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483916	NM_006012.4(CLPP):c.11G>A (p.Gly4Glu)	CLPP (G4E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467457	NM_006012.4(CLPP):c.94C>T (p.Arg32Trp)	CLPP (R32W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442653	NM_006012.4(CLPP):c.148G>A (p.Ala50Thr)	CLPP (A50T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430701	NM_006012.4(CLPP):c.169C>G (p.Pro57Ala)	CLPP (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2414346	NM_006012.4(CLPP):c.381C>T (p.Thr127=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390946	NM_006012.4(CLPP):c.800C>T (p.Ala267Val)	CLPP (A267V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318597	NM_006012.4(CLPP):c.472C>A (p.Leu158Ile)	CLPP (L158I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313221	NM_006012.4(CLPP):c.554G>A (p.Arg185Gln)	CLPP (R185Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285932	NM_006012.4(CLPP):c.31C>T (p.Arg11Trp)	CLPP (R11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264592	NM_006012.4(CLPP):c.416T>C (p.Ile139Thr)	CLPP (I139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197967	NM_006012.4(CLPP):c.23G>C (p.Gly8Ala)	CLPP (G8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180155	NM_006012.4(CLPP):c.711G>A (p.Glu237=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180024	NM_006012.4(CLPP):c.321A>G (p.Gln107=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171411	NM_006012.4(CLPP):c.199-1G>C	CLPP, LOC130063288	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2138191	NM_006012.4(CLPP):c.661G>A (p.Glu221Lys)	CLPP (E221K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2138190	NM_006012.4(CLPP):c.21del (p.Ala10fs)	CLPP (A10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2069662	NM_006012.4(CLPP):c.99G>A (p.Pro33=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063969	NM_006012.4(CLPP):c.791T>C (p.Val264Ala)	CLPP (V264A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057776	NM_006012.4(CLPP):c.750G>A (p.Gln250=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2031987	NM_006012.4(CLPP):c.585_586insAT (p.Glu196fs)	CLPP (E196fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2031295	NM_006012.4(CLPP):c.661+11T>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023518	NM_006012.4(CLPP):c.367+16C>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013256	NM_006012.4(CLPP):c.521G>A (p.Arg174His)	CLPP (R174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998987	NM_006012.4(CLPP):c.182T>C (p.Ile61Thr)	CLPP (I61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981545	NM_006012.4(CLPP):c.617A>G (p.Tyr206Cys)	CLPP (Y206C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977777	NM_006012.4(CLPP):c.273C>T (p.Ile91=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976906	NM_006012.4(CLPP):c.513C>A (p.Pro171=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973126	NM_006012.4(CLPP):c.93G>T (p.Gln31His)	CLPP (Q31H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969231	NM_006012.4(CLPP):c.720C>G (p.Ile240Met)	CLPP (I240M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967215	NM_006012.4(CLPP):c.60G>A (p.Leu20=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955444	NM_006012.4(CLPP):c.21A>G (p.Val7=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954114	NM_006012.4(CLPP):c.199-9T>A	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951487	NM_006012.4(CLPP):c.555+9C>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948054	NM_006012.4(CLPP):c.101C>T (p.Pro34Leu)	CLPP (P34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948005	NM_006012.4(CLPP):c.555+17C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1942387	NM_006012.4(CLPP):c.43T>C (p.Cys15Arg)	CLPP (C15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935134	NM_006012.4(CLPP):c.595A>G (p.Met199Val)	CLPP (M199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930360	NM_006012.4(CLPP):c.729G>C (p.Lys243Asn)	CLPP (K243N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929972	NM_006012.4(CLPP):c.553C>T (p.Arg185Trp)	CLPP (R185W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926082	NM_006012.4(CLPP):c.33G>A (p.Arg11=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924847	NM_006012.4(CLPP):c.726C>T (p.Asp242=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924796	NM_006012.4(CLPP):c.708G>A (p.Gln236=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920166	NM_006012.4(CLPP):c.770C>T (p.Thr257Met)	CLPP (T257M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916981	NM_006012.4(CLPP):c.697A>G (p.Met233Val)	CLPP (M233V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907924	NM_006012.4(CLPP):c.367+17C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903770	NM_006012.4(CLPP):c.198+11C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902739	NM_006012.4(CLPP):c.683G>A (p.Arg228His)	CLPP (R228H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902384	NM_006012.4(CLPP):c.300C>T (p.Ile100=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803648	NM_006012.4(CLPP):c.29C>G (p.Ala10Gly)	CLPP (A10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705010	NM_006012.4(CLPP):c.85C>T (p.Pro29Ser)	CLPP (P29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687092	NM_006012.4(CLPP):c.556-2A>T	CLPP	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1675716	NM_006012.4(CLPP):c.497T>C (p.Met166Thr)	CLPP (M166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667841	NM_006012.4(CLPP):c.199-16A>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657885	NM_006012.4(CLPP):c.555+18G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649486	NM_006012.4(CLPP):c.156G>A (p.Ala52=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626111	NM_006012.4(CLPP):c.271-10C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605689	NM_006012.4(CLPP):c.480C>T (p.Ala160=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605637	NM_006012.4(CLPP):c.771G>A (p.Thr257=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587821	NM_006012.4(CLPP):c.753C>T (p.Asp251=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557838	NM_006012.4(CLPP):c.201T>C (p.Gly67=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551026	NM_006012.4(CLPP):c.240G>A (p.Leu80=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549013	NM_006012.4(CLPP):c.199-16A>G	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548781	NM_006012.4(CLPP):c.507G>A (p.Ser169=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534791	NM_006012.4(CLPP):c.234G>A (p.Arg78=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534540	NM_006012.4(CLPP):c.662-18C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534245	NM_006012.4(CLPP):c.270+11C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign

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