"GeneDx"[submitter] AND "DNAJC6"[gene] - ClinVar

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Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 1282584	NC_000001.11:g.65264541G>C	DNAJC6	Single nucleotide variant	not provided	GBenign
Select item 1280775	NM_014787.4(DNAJC6):c.22+236C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181884	NM_014787.4(DNAJC6):c.22+247A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290812	NM_014787.4(DNAJC6):c.22+44297C>T	DNAJC6, DNAJC6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267604	NM_014787.4(DNAJC6):c.22+44572G>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190193	NM_001256864.2(DNAJC6):c.-108G>A	DNAJC6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1289986	NM_001256864.2(DNAJC6):c.193+177G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263428	NM_001256864.2(DNAJC6):c.193+196C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208804	NM_001256864.2(DNAJC6):c.193+221C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197078	NM_001256864.2(DNAJC6):c.194-22dup	DNAJC6	Duplication (intron variant)	not provided	GLikely benign
Select item 1258041	NM_001256864.2(DNAJC6):c.194-21G>T	DNAJC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1204308	NM_001256864.2(DNAJC6):c.194-6dup	DNAJC6	Duplication (intron variant)	not provided	GLikely benign
Select item 1260451	NM_001256864.2(DNAJC6):c.194-20_194-19insG	DNAJC6	Insertion (intron variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 1178033	NM_001256864.2(DNAJC6):c.194-6del	DNAJC6	Deletion (intron variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 1277678	NM_001256864.2(DNAJC6):c.194-19T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 1215186	NM_001256864.2(DNAJC6):c.194-18T>G	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 474676	NM_001256864.2(DNAJC6):c.194-5G>T	DNAJC6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1222461	NM_001256864.2(DNAJC6):c.344+140T>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197050	NM_001256864.2(DNAJC6):c.344+297del	DNAJC6	Deletion (intron variant)	not provided	GLikely benign
Select item 1309325	NM_001256864.2(DNAJC6):c.416A>G (p.Asn139Ser)	DNAJC6 (N139S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289828	NM_001256864.2(DNAJC6):c.543+135A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283865	NM_001256864.2(DNAJC6):c.544-122A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188725	NM_001256864.2(DNAJC6):c.544-45G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227901	NM_001256864.2(DNAJC6):c.544-43A>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170298	NM_001256864.2(DNAJC6):c.544-9C>T	DNAJC6	Single nucleotide variant (intron variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 1195726	NM_001256864.2(DNAJC6):c.666+216C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230460	NM_001256864.2(DNAJC6):c.666+239A>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199846	NM_001256864.2(DNAJC6):c.666+288A>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474681	NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)	DNAJC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 541544	NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)	DNAJC6 (I249V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1298426	NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr)	DNAJC6 (A207T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1202114	NM_001256864.2(DNAJC6):c.995+54G>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243721	NM_001256864.2(DNAJC6):c.995+170G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194546	NM_001256864.2(DNAJC6):c.995+218C>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211619	NM_001256864.2(DNAJC6):c.995+272A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251233	NM_001256864.2(DNAJC6):c.996-185A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270673	NM_001256864.2(DNAJC6):c.1113+258A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195747	NM_001256864.2(DNAJC6):c.1113+324A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214950	NM_001256864.2(DNAJC6):c.1114-72C>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186817	NM_001256864.2(DNAJC6):c.1194-208T>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212526	NM_001256864.2(DNAJC6):c.1194-148A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197999	NM_001256864.2(DNAJC6):c.1194-148A>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 702187	NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 445731	NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)	DNAJC6 (L416F +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 1191476	NM_001256864.2(DNAJC6):c.1468+171G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267313	NM_001256864.2(DNAJC6):c.1469-26T>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 703945	NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)	DNAJC6 (C441S +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GConflicting classifications of pathogenicity
Select item 1170299	NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 1167136	NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 3375884	NM_001256864.2(DNAJC6):c.1593G>C (p.Lys531Asn)	DNAJC6 (K461N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703807	NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
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 1194697	NM_001256864.2(DNAJC6):c.1904-326T>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211172	NM_001256864.2(DNAJC6):c.1904-68G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167137	NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 3375889	NM_001256864.2(DNAJC6):c.1997C>T (p.Pro666Leu)	DNAJC6 (P596L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170300	NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 1234289	NM_001256864.2(DNAJC6):c.2038+159T>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151358	GRCh38/hg38 1p31.3(chr1:65395820-65473801)x3	DNAJC6, LEPR +4 more	Copy number gain	See cases	GLikely benign
Select item 1246857	NM_001256864.2(DNAJC6):c.2039-298A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231080	NM_001256864.2(DNAJC6):c.2039-276G>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307711	NM_001256864.2(DNAJC6):c.2062A>T (p.Ile688Phe)	DNAJC6 (I618F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311281	NM_001256864.2(DNAJC6):c.2086T>G (p.Trp696Gly)	DNAJC6 (W626G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214317	NM_001256864.2(DNAJC6):c.2107+288C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202077	NM_001256864.2(DNAJC6):c.2108-202A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280630	NM_001256864.2(DNAJC6):c.2108-53C>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196512	NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu)	DNAJC6 (S650L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1167138	NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)	DNAJC6 (S658N +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign
Select item 1280721	NM_001256864.2(DNAJC6):c.2227+152C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198113	NM_001256864.2(DNAJC6):c.2227+171G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211957	NM_001256864.2(DNAJC6):c.2227+271C>T	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211286	NM_001256864.2(DNAJC6):c.2227+306G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271884	NM_001256864.2(DNAJC6):c.2227+311G>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272566	NM_001256864.2(DNAJC6):c.2491+195A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250424	NM_001256864.2(DNAJC6):c.2491+203A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181759	NM_001256864.2(DNAJC6):c.2491+208_2491+209del	DNAJC6	Deletion (intron variant)	not provided	GBenign
Select item 1210479	NM_001256864.2(DNAJC6):c.2491+276G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287944	NM_001256864.2(DNAJC6):c.2492-287T>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296193	NM_001256864.2(DNAJC6):c.2492-177T>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275547	NM_001256864.2(DNAJC6):c.2634+170dup	DNAJC6	Duplication (intron variant)	not provided	GBenign
Select item 1238772	NM_001256864.2(DNAJC6):c.2634+324A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214783	NM_001256864.2(DNAJC6):c.2635-64del	DNAJC6	Deletion (intron variant)	not provided	GLikely benign
Select item 1213305	NM_001256864.2(DNAJC6):c.2635-62G>A	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309326	NM_001256864.2(DNAJC6):c.2696C>G (p.Thr899Ser)	DNAJC6 (T829S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203244	NM_001256864.2(DNAJC6):c.2811+135T>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209023	NM_001256864.2(DNAJC6):c.2811+229T>C	DNAJC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274631	NM_001256864.2(DNAJC6):c.2811+308del	DNAJC6	Deletion (intron variant)	not provided	GBenign
Select item 1212454	NM_001256864.2(DNAJC6):c.*174C>T	DNAJC6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3360463	NM_001256864.2(DNAJC6):c.1113+3A>G	DNAJC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 94