ClinVar for MedGen (Select 816141) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 (5 prime UTR 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 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 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 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 (intron 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)	DNAJC6-related disorder +1 more	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 +1 more	GBenign/Likely benign
Select item 2048442	NM_001256864.2(DNAJC6):c.542G>A (p.Arg181Gln)	DNAJC6 (R181Q +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 2038049	NM_001256864.2(DNAJC6):c.156A>G (p.Arg52=)	DNAJC6	Single nucleotide variant (synonymous variant +1 more)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 2011404	NM_001256864.2(DNAJC6):c.2506G>T (p.Ala836Ser)	DNAJC6 (A766S +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1974816	NM_001256864.2(DNAJC6):c.344+6C>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1974739	NM_001256864.2(DNAJC6):c.1894G>C (p.Val632Leu)	DNAJC6 (V562L +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1962880	NM_001256864.2(DNAJC6):c.1662G>A (p.Val554=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1962720	NM_001256864.2(DNAJC6):c.1012G>C (p.Asp338His)	DNAJC6 (D338H +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1948734	NM_001256864.2(DNAJC6):c.194-15T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1947761	NM_001256864.2(DNAJC6):c.845G>A (p.Arg282His)	DNAJC6 (R225H +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GBenign
Select item 1943951	NM_001256864.2(DNAJC6):c.2309C>T (p.Ala770Val)	DNAJC6 (A713V +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GUncertain significance
Select item 1938238	NM_001256864.2(DNAJC6):c.1041C>A (p.Ile347=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GBenign
Select item 1933282	NM_001256864.2(DNAJC6):c.543+10T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1910945	NM_001256864.2(DNAJC6):c.544-20C>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GBenign
Select item 1909404	NM_001256864.2(DNAJC6):c.2351C>T (p.Ala784Val)	DNAJC6 (A784V +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1904424	NM_001256864.2(DNAJC6):c.1819C>A (p.Pro607Thr)	DNAJC6 (P550T +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1694517	NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GLikely benign
Select item 1676536	NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter)	DNAJC6 (E17*)	Single nucleotide variant	Juvenile onset Parkinson disease 19A	GLikely pathogenic
Select item 1669121	NM_001256864.2(DNAJC6):c.144G>T (p.Arg48=)	DNAJC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1668669	NM_001256864.2(DNAJC6):c.1533G>A (p.Glu511=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1664053	NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1657427	NM_001256864.2(DNAJC6):c.2697C>T (p.Thr899=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1653067	NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1651122	NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1644557	NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1625972	NM_001256864.2(DNAJC6):c.1269G>A (p.Gln423=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1618322	NM_001256864.2(DNAJC6):c.1904-12A>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1604566	NM_001256864.2(DNAJC6):c.2463C>T (p.Asn821=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1598421	NM_001256864.2(DNAJC6):c.2228-17T>A	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1595879	NM_001256864.2(DNAJC6):c.194-17T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GBenign
Select item 1575180	NM_001256864.2(DNAJC6):c.666+10C>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1571616	NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1565953	NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A	GBenign
Select item 1554713	NM_001256864.2(DNAJC6):c.194-13T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1554517	NM_001256864.2(DNAJC6):c.194-16T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1544023	NM_001256864.2(DNAJC6):c.801-14A>C	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1528955	NM_001256864.2(DNAJC6):c.995+16T>C	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GLikely benign
Select item 1522190	NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val)	DNAJC6 (A611V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509579	NM_001256864.2(DNAJC6):c.2107+8_2107+10del	DNAJC6	Deletion (intron variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1500680	NM_001256864.2(DNAJC6):c.973T>C (p.Cys325Arg)	DNAJC6 (C255R +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1493001	NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser)	DNAJC6 (A815S +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1491251	NM_001256864.2(DNAJC6):c.2003T>A (p.Leu668His)	DNAJC6 (L668H +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1489629	NM_001256864.2(DNAJC6):c.1794G>C (p.Gln598His)	DNAJC6 (Q541H +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1484761	NM_001256864.2(DNAJC6):c.344+4C>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1481601	NM_001256864.2(DNAJC6):c.2873G>T (p.Trp958Leu)	DNAJC6 (W901L +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1478736	NM_001256864.2(DNAJC6):c.2255C>T (p.Thr752Ile)	DNAJC6 (T682I +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1451316	NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs)	DNAJC6 (Q820fs +2 more)	Duplication (frameshift variant)	Juvenile onset Parkinson disease 19A	GPathogenic
Select item 1447596	NM_001256864.2(DNAJC6):c.32C>T (p.Thr11Ile)	DNAJC6 (T11I)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1446499	NM_001256864.2(DNAJC6):c.164C>A (p.Pro55Gln)	DNAJC6 (P55Q)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1445553	NM_001256864.2(DNAJC6):c.119G>T (p.Arg40Ile)	DNAJC6 (R40I)	Single nucleotide variant (missense variant +1 more)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1444657	NM_001256864.2(DNAJC6):c.1666C>T (p.Leu556Phe)	DNAJC6 (L499F +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1444053	NM_001256864.2(DNAJC6):c.809G>A (p.Gly270Asp)	DNAJC6 (G200D +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1432952	NM_001256864.2(DNAJC6):c.2839G>A (p.Ala947Thr)	DNAJC6 (A947T +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1426533	NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn)	DNAJC6 (S604N +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 1425297	NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys)	DNAJC6 (R561C +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance

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