DNAJC21[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037808	NM_001012339.3(DNAJC21):c.-7T>G	DNAJC21	Single nucleotide variant (5 prime UTR variant)	DNAJC21-related disorder	GLikely benign
Select item 1481068	NM_001012339.3(DNAJC21):c.98-19A>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658586	NM_001012339.3(DNAJC21):c.98-16T>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695074	NM_001012339.3(DNAJC21):c.98-13G>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663492	NM_001012339.3(DNAJC21):c.98-10A>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 617607	NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu)	DNAJC21 (K34E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1981059	NM_001012339.3(DNAJC21):c.101A>G (p.Lys34Arg)	DNAJC21 (K34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666698	NM_001012339.3(DNAJC21):c.117C>T (p.Ala39=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437621	NM_001012339.3(DNAJC21):c.118G>A (p.Ala40Thr)	DNAJC21 (A40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339571	NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)	DNAJC21 (Q50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1390276	NM_001012339.3(DNAJC21):c.175C>T (p.Pro59Ser)	DNAJC21 (P59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661089	NM_001012339.3(DNAJC21):c.189A>G (p.Ala63=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762942	NM_001012339.3(DNAJC21):c.191+8T>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164684	NM_001012339.3(DNAJC21):c.191+10A>G	DNAJC21	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1604718	NM_001012339.3(DNAJC21):c.191+11C>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1654440	NM_001012339.3(DNAJC21):c.191+12G>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864141	NM_001012339.3(DNAJC21):c.191+18C>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613406	NM_001012339.3(DNAJC21):c.191+18C>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900514	NM_001012339.3(DNAJC21):c.192-19G>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666559	NM_001012339.3(DNAJC21):c.192-14T>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839257	NM_001012339.3(DNAJC21):c.192-9G>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015553	NM_001012339.3(DNAJC21):c.192-4T>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1493426	NM_001012339.3(DNAJC21):c.192-3C>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2419259	NM_001012339.3(DNAJC21):c.198T>C (p.Asp66=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215909	NM_001012339.3(DNAJC21):c.203A>G (p.His68Arg)	DNAJC21 (H68R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GUncertain significance
Select item 2021093	NM_001012339.3(DNAJC21):c.213C>T (p.Ala71=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425044	NM_001012339.3(DNAJC21):c.214C>G (p.Leu72Val)	DNAJC21 (L72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732646	NM_001012339.3(DNAJC21):c.222A>G (p.Lys74=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1357982	NM_001012339.3(DNAJC21):c.230T>C (p.Phe77Ser)	DNAJC21 (F77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390681	NM_001012339.3(DNAJC21):c.238G>A (p.Glu80Lys)	DNAJC21 (E80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452422	NM_001012339.3(DNAJC21):c.247G>T (p.Asp83Tyr)	DNAJC21 (D83Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372084	NM_001012339.3(DNAJC21):c.253A>G (p.Ser85Gly)	DNAJC21 (S85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2900657	NM_001012339.3(DNAJC21):c.255C>T (p.Ser85=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469617	NM_001012339.3(DNAJC21):c.268C>T (p.Arg90Cys)	DNAJC21 (R90C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547970	NM_001012339.3(DNAJC21):c.270C>T (p.Arg90=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353226	NM_001012339.3(DNAJC21):c.271T>C (p.Tyr91His)	DNAJC21 (Y91H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764001	NM_001012339.3(DNAJC21):c.279C>T (p.Thr93=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2159235	NM_001012339.3(DNAJC21):c.280G>A (p.Val94Ile)	DNAJC21 (V94I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392677	NM_001012339.3(DNAJC21):c.280G>T (p.Val94Phe)	DNAJC21 (V94F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536817	NM_001012339.3(DNAJC21):c.290A>T (p.Tyr97Phe)	DNAJC21 (Y97F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365071	NM_001012339.3(DNAJC21):c.290A>C (p.Tyr97Ser)	DNAJC21 (Y97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181302	NM_001012339.3(DNAJC21):c.314del (p.Lys105fs)	DNAJC21 (K105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2853285	NM_001012339.3(DNAJC21):c.315+1G>T	DNAJC21	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2027515	NM_001012339.3(DNAJC21):c.316-18T>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548885	NM_001012339.3(DNAJC21):c.316-14T>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093252	NM_001012339.3(DNAJC21):c.316-3dup	DNAJC21	Duplication (intron variant)	not provided	GBenign
Select item 784050	NM_001012339.3(DNAJC21):c.316-8T>G	DNAJC21	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2585147	NM_001012339.3(DNAJC21):c.316-2A>C	DNAJC21	Single nucleotide variant (splice acceptor variant)	Bone marrow failure syndrome 3	GLikely pathogenic
Select item 1448657	NM_001012339.3(DNAJC21):c.326C>T (p.Thr109Met)	DNAJC21 (T109M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194452	NM_001012339.3(DNAJC21):c.327G>C (p.Thr109=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731093	NM_001012339.3(DNAJC21):c.327G>A (p.Thr109=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1448091	NM_001012339.3(DNAJC21):c.332A>G (p.Tyr111Cys)	DNAJC21 (Y111C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534566	NM_001012339.3(DNAJC21):c.334C>T (p.Arg112Cys)	DNAJC21 (R112C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1021219	NM_001012339.3(DNAJC21):c.335G>A (p.Arg112His)	DNAJC21 (R112H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548034	NM_001012339.3(DNAJC21):c.337A>T (p.Asn113Tyr)	DNAJC21 (N113Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1452644	NM_001012339.3(DNAJC21):c.340del (p.Val114fs)	DNAJC21 (V114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816354	NM_001012339.3(DNAJC21):c.345del (p.Phe115fs)	DNAJC21 (F115fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2986127	NM_001012339.3(DNAJC21):c.348A>G (p.Glu116=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404822	NM_001012339.3(DNAJC21):c.352A>G (p.Ile118Val)	DNAJC21 (I118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194636	NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)	DNAJC21 (E124Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1446309	NM_001012339.3(DNAJC21):c.377T>C (p.Val126Ala)	DNAJC21 (V126A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637849	NM_001012339.3(DNAJC21):c.378G>T (p.Val126=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065635	NM_001012339.3(DNAJC21):c.381delinsCTAGTGT (p.Leu127delinsPheTer)	DNAJC21	Indel (nonsense)	Bone marrow failure syndrome 3	GPathogenic
Select item 1608043	NM_001012339.3(DNAJC21):c.390G>C (p.Glu130Asp)	DNAJC21 (E130D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1438052	NM_001012339.3(DNAJC21):c.398A>G (p.Asp133Gly)	DNAJC21 (D133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336865	NM_001012339.3(DNAJC21):c.402C>T (p.Phe134=)	DNAJC21	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1427599	NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser)	DNAJC21 (F137S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336617	NM_001012339.3(DNAJC21):c.414A>G (p.Gly138=)	DNAJC21	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1427695	NM_001012339.3(DNAJC21):c.415G>A (p.Asp139Asn)	DNAJC21 (D139N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710396	NM_001012339.3(DNAJC21):c.420C>T (p.Ser140=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465745	NM_001012339.3(DNAJC21):c.425G>A (p.Ser142Asn)	DNAJC21 (S142N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273117	NM_001012339.3(DNAJC21):c.427G>A (p.Asp143Asn)	DNAJC21 (D143N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635017	NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)	DNAJC21 (D145G)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1438629	NM_001012339.3(DNAJC21):c.436dup (p.Thr146fs)	DNAJC21 (T146fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1398573	NM_001012339.3(DNAJC21):c.437C>T (p.Thr146Met)	DNAJC21 (T146M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1973664	NM_001012339.3(DNAJC21):c.438G>A (p.Thr146=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1634472	NM_001012339.3(DNAJC21):c.438+16A>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119932	NM_001012339.3(DNAJC21):c.439-4C>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126132	NM_001012339.3(DNAJC21):c.439-2A>G	DNAJC21	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1619883	NM_001012339.3(DNAJC21):c.441A>G (p.Val147=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396002	NM_001012339.3(DNAJC21):c.449C>G (p.Pro150Arg)	DNAJC21 (P150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069195	NM_001012339.3(DNAJC21):c.456C>T (p.Tyr152=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470400	NM_001012339.3(DNAJC21):c.458C>A (p.Ala153Asp)	DNAJC21 (A153D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008633	NM_001012339.3(DNAJC21):c.461A>C (p.Tyr154Ser)	DNAJC21 (Y154S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813932	NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg)	DNAJC21 (W155R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3	GUncertain significance
Select item 2901505	NM_001012339.3(DNAJC21):c.477C>T (p.Cys159=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357406	NM_001012339.3(DNAJC21):c.481C>G (p.Gln161Glu)	DNAJC21 (Q161E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1167946	NM_001012339.3(DNAJC21):c.483A>G (p.Gln161=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1959466	NM_001012339.3(DNAJC21):c.493G>A (p.Ala165Thr)	DNAJC21 (A165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747758	NM_001012339.3(DNAJC21):c.495A>G (p.Ala165=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412956	NM_001012339.3(DNAJC21):c.511G>A (p.Asp171Asn)	DNAJC21 (D171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020793	NM_001012339.3(DNAJC21):c.513T>C (p.Asp171=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985874	NM_001012339.3(DNAJC21):c.515C>T (p.Thr172Ile)	DNAJC21 (T172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222064	NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter)	DNAJC21 (R173*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 2062882	NM_001012339.3(DNAJC21):c.518G>A (p.Arg173Gln)	DNAJC21 (R173Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617606	NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter)	DNAJC21 (Q174*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3	GPathogenic
Select item 2655393	NM_001012339.3(DNAJC21):c.528A>G (p.Ser176=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273119	NM_001012339.3(DNAJC21):c.529A>G (p.Asn177Asp)	DNAJC21 (N177D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2094656	NM_001012339.3(DNAJC21):c.532C>T (p.Arg178Cys)	DNAJC21 (R178C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 598950	NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)	DNAJC21 (R182*)	Single nucleotide variant (nonsense)	See cases +8 more	GPathogenic

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