ClinVar for Gene (Select 9829) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360463	NM_001256864.2(DNAJC6):c.1113+3A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3342185	NM_001256864.2(DNAJC6):c.261A>C (p.Ala87=)	DNAJC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273138	NM_001256864.2(DNAJC6):c.938A>T (p.Asp313Val)	DNAJC6 (D313V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253523	NM_001256864.2(DNAJC6):c.968C>T (p.Ser323Leu)	DNAJC6 (S253L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247834	NC_000001.10:g.(?_65853999)_(65878708_?)dup	DNAJC6	Duplication	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 3247833	NC_000001.10:g.(?_65775429)_(65831899_?)dup	DNAJC6	Duplication	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3239534	NM_001256864.2(DNAJC6):c.1632G>A (p.Glu544=)	DNAJC6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3084604	NM_001256864.2(DNAJC6):c.608G>A (p.Arg203Gln)	DNAJC6 (R133Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084603	NM_001256864.2(DNAJC6):c.2619T>A (p.Asp873Glu)	DNAJC6 (D873E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084602	NM_001256864.2(DNAJC6):c.2450C>T (p.Pro817Leu)	DNAJC6 (P760L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084601	NM_001256864.2(DNAJC6):c.2273G>A (p.Gly758Asp)	DNAJC6 (G701D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084600	NM_001256864.2(DNAJC6):c.2122G>A (p.Gly708Arg)	DNAJC6 (G651R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084599	NM_001256864.2(DNAJC6):c.2051C>G (p.Pro684Arg)	DNAJC6 (P627R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084597	NM_001256864.2(DNAJC6):c.1649C>T (p.Pro550Leu)	DNAJC6 (P550L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084596	NM_001256864.2(DNAJC6):c.1643C>T (p.Pro548Leu)	DNAJC6 (P478L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084595	NM_001256864.2(DNAJC6):c.1640C>G (p.Ala547Gly)	DNAJC6 (A547G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067487	NM_001256864.2(DNAJC6):c.2373G>A (p.Gln791=)	DNAJC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057626	NM_001256864.2(DNAJC6):c.681A>G (p.Ala227=)	DNAJC6	Single nucleotide variant (synonymous variant)	DNAJC6-related disorder	GLikely benign
Select item 3008009	NM_001256864.2(DNAJC6):c.1504C>T (p.His502Tyr)	DNAJC6 (H432Y +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2994786	NM_001256864.2(DNAJC6):c.1383A>G (p.Leu461=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2912636	NM_001256864.2(DNAJC6):c.1185G>A (p.Lys395=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2908402	NM_001256864.2(DNAJC6):c.194-7_194-6del	DNAJC6	Deletion (intron variant)	Juvenile onset Parkinson disease 19A	GBenign
Select item 2879152	NM_001256864.2(DNAJC6):c.2594A>G (p.Lys865Arg)	DNAJC6 (K795R +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2871507	NM_001256864.2(DNAJC6):c.2790C>T (p.Val930=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2869307	NM_001256864.2(DNAJC6):c.344+12C>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2795964	NM_001256864.2(DNAJC6):c.789A>T (p.Pro263=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2788588	NM_001256864.2(DNAJC6):c.996-14G>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2779570	NM_001256864.2(DNAJC6):c.210C>T (p.Asp70=)	DNAJC6	Single nucleotide variant (synonymous variant +1 more)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2750267	NM_001256864.2(DNAJC6):c.2235T>C (p.Ser745=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2723122	NM_001256864.2(DNAJC6):c.1569G>A (p.Pro523=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2721385	NM_001256864.2(DNAJC6):c.996-15G>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2720586	NM_001256864.2(DNAJC6):c.2107+11G>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2704384	NM_001256864.2(DNAJC6):c.2643A>G (p.Glu881=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2704320	NM_001256864.2(DNAJC6):c.2039-4G>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2691666	NC_000001.10:g.(65845208_65849875)_(65855311_65858113)dup	DNAJC6	Duplication	DNAJC6-related disorder	GLikely pathogenic
Select item 2683718	NM_001256864.2(DNAJC6):c.673C>T (p.Arg225Trp)	DNAJC6 (R155W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672338	NM_001256864.2(DNAJC6):c.2886A>G (p.Glu962=)	DNAJC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638873	NM_001256864.2(DNAJC6):c.2061C>T (p.Asn687=)	DNAJC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603371	NM_001256864.2(DNAJC6):c.1315T>C (p.Cys439Arg)	DNAJC6 (C369R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598836	NM_001256864.2(DNAJC6):c.1432G>A (p.Gly478Arg)	DNAJC6 (G478R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552083	NM_001256864.2(DNAJC6):c.1520A>G (p.Asn507Ser)	DNAJC6 (N437S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538887	NM_001256864.2(DNAJC6):c.476A>G (p.His159Arg)	DNAJC6 (H102R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505345	NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)	DNAJC6 (P787fs +2 more)	Deletion (frameshift variant)	Juvenile onset Parkinson disease 19A	GLikely pathogenic
Select item 2492673	NM_001256864.2(DNAJC6):c.1373C>T (p.Thr458Met)	DNAJC6 (T388M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483761	NM_001256864.2(DNAJC6):c.1781C>T (p.Thr594Ile)	DNAJC6 (T524I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479910	NM_001256864.2(DNAJC6):c.1309C>T (p.His437Tyr)	DNAJC6 (H367Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479658	NM_001256864.2(DNAJC6):c.1069A>G (p.Met357Val)	DNAJC6 (M357V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477371	NM_001256864.2(DNAJC6):c.1277A>T (p.Asp426Val)	DNAJC6 (D369V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470570	NM_001256864.2(DNAJC6):c.1651C>G (p.Pro551Ala)	DNAJC6 (P551A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430412	NM_001256864.2(DNAJC6):c.1804G>A (p.Glu602Lys)	DNAJC6 (E532K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 2424028	NC_000001.10:g.(?_65849856)_(65855330_?)dup	DNAJC6	Duplication	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2417455	NM_001256864.2(DNAJC6):c.2370A>C (p.Pro790=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2414781	NM_001256864.2(DNAJC6):c.1388-18G>A	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2405089	NM_001256864.2(DNAJC6):c.2828A>G (p.Tyr943Cys)	DNAJC6 (Y886C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392586	NM_001256864.2(DNAJC6):c.1652C>G (p.Pro551Arg)	DNAJC6 (P551R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384831	NM_001256864.2(DNAJC6):c.2480C>T (p.Ser827Leu)	DNAJC6 (S827L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377186	NM_001256864.2(DNAJC6):c.1493G>A (p.Cys498Tyr)	DNAJC6 (C498Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355032	NM_001256864.2(DNAJC6):c.2546A>G (p.Asn849Ser)	DNAJC6 (N792S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340327	NM_001256864.2(DNAJC6):c.1190C>A (p.Thr397Asn)	DNAJC6 (T397N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339402	NM_001256864.2(DNAJC6):c.1478C>T (p.Ser493Leu)	DNAJC6 (S423L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325629	NM_001256864.2(DNAJC6):c.731C>T (p.Thr244Ile)	DNAJC6 (T187I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298898	NM_001256864.2(DNAJC6):c.1004G>A (p.Arg335His)	DNAJC6 (R265H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287915	NM_001256864.2(DNAJC6):c.2024C>T (p.Ser675Leu)	DNAJC6 (S618L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287271	NM_001256864.2(DNAJC6):c.815T>C (p.Met272Thr)	DNAJC6 (M202T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274603	NM_001256864.2(DNAJC6):c.1459T>C (p.Cys487Arg)	DNAJC6 (C417R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260989	NM_001256864.2(DNAJC6):c.1637C>T (p.Ala546Val)	DNAJC6 (A546V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248573	NM_001256864.2(DNAJC6):c.2098G>A (p.Ala700Thr)	DNAJC6 (A700T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245718	NM_001256864.2(DNAJC6):c.2739G>T (p.Met913Ile)	DNAJC6 (M843I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238338	NM_001256864.2(DNAJC6):c.2500C>A (p.Gln834Lys)	DNAJC6 (Q764K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229725	NM_001256864.2(DNAJC6):c.989G>A (p.Arg330Gln)	DNAJC6 (R260Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229538	NM_001256864.2(DNAJC6):c.1871C>T (p.Thr624Ile)	DNAJC6 (T554I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227914	NM_001256864.2(DNAJC6):c.1681G>A (p.Gly561Arg)	DNAJC6 (G491R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209354	NM_001256864.2(DNAJC6):c.2431G>T (p.Val811Leu)	DNAJC6 (V754L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201207	NM_001256864.2(DNAJC6):c.117G>A (p.Gln39=)	DNAJC6	Single nucleotide variant (synonymous variant +1 more)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2200270	NM_001256864.2(DNAJC6):c.149C>T (p.Pro50Leu)	DNAJC6 (P50L)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2200237	NM_001256864.2(DNAJC6):c.2553C>G (p.His851Gln)	DNAJC6 (H851Q +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2193577	NM_001256864.2(DNAJC6):c.2119A>G (p.Met707Val)	DNAJC6 (M650V +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2182758	NM_001256864.2(DNAJC6):c.1824T>C (p.Ser608=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2170667	NM_001256864.2(DNAJC6):c.79G>T (p.Asp27Tyr)	DNAJC6 (D27Y)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2159246	NM_001256864.2(DNAJC6):c.2476G>A (p.Gly826Arg)	DNAJC6 (G756R +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2157937	NM_001256864.2(DNAJC6):c.270C>T (p.Leu90=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2138764	NM_001256864.2(DNAJC6):c.2106A>G (p.Pro702=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2118363	NM_001256864.2(DNAJC6):c.2130G>A (p.Lys710=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2110587	NM_001256864.2(DNAJC6):c.2846T>C (p.Met949Thr)	DNAJC6 (M879T +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2103127	NM_001256864.2(DNAJC6):c.1741C>G (p.Leu581Val)	DNAJC6 (L511V +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2102131	NM_001256864.2(DNAJC6):c.2689A>T (p.Met897Leu)	DNAJC6 (M840L +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2099272	NM_001256864.2(DNAJC6):c.128C>T (p.Ala43Val)	DNAJC6 (A43V)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2096560	NM_001256864.2(DNAJC6):c.666+1G>A	DNAJC6	Single nucleotide variant (splice donor variant)	Juvenile onset Parkinson disease 19A	GLikely pathogenic
Select item 2086834	NM_001256864.2(DNAJC6):c.2634+18C>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2079427	NM_001256864.2(DNAJC6):c.700G>A (p.Ala234Thr)	DNAJC6 (A234T +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GUncertain significance
Select item 2074434	NM_001256864.2(DNAJC6):c.1974C>T (p.Asn658=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2071733	NM_001256864.2(DNAJC6):c.83T>C (p.Leu28Ser)	DNAJC6 (L28S)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2067663	NM_001256864.2(DNAJC6):c.2205T>G (p.Pro735=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2065446	NM_001256864.2(DNAJC6):c.876G>A (p.Ser292=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2063008	NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2053413	NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)	DNAJC6 (Q614R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051812	NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GBenign

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