ClinVar for Gene (Select 131118) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3084530	NM_145261.4(DNAJC19):c.58C>T (p.Arg20Cys)	DNAJC19 (R20C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3084529	NM_145261.4(DNAJC19):c.248G>A (p.Arg83Gln)	DNAJC19 (R83Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084527	NM_145261.4(DNAJC19):c.188C>T (p.Ala63Val)	DNAJC19 (A63V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069178	NM_145261.4(DNAJC19):c.102del (p.Lys34fs)	DNAJC19 (K34fs +1 more)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 5	GPathogenic
Select item 3064865	NM_145261.4(DNAJC19):c.26G>T (p.Gly9Val)	DNAJC19 (G9V)	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 3064132	NM_145261.4(DNAJC19):c.281-2A>C	DNAJC19	Single nucleotide variant (splice acceptor variant)	3-methylglutaconic aciduria type 5	GLikely pathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3036096	NM_145261.4(DNAJC19):c.281-4A>T	DNAJC19	Single nucleotide variant (intron variant)	DNAJC19-related condition	GLikely benign
Select item 3031560	NM_145261.4(DNAJC19):c.129T>C (p.Ser43=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	DNAJC19-related condition	GLikely benign
Select item 3013339	NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2990462	NM_145261.4(DNAJC19):c.4-24_15del	DNAJC19	Deletion (splice acceptor variant)	3-methylglutaconic aciduria type 5	GLikely pathogenic
Select item 2975972	NM_145261.4(DNAJC19):c.281-21_281-19del	DNAJC19	Deletion (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2919469	NM_145261.4(DNAJC19):c.210-12T>A	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2882195	NM_145261.4(DNAJC19):c.281-15T>G	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2857115	NM_145261.4(DNAJC19):c.56-17G>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2841822	NM_145261.4(DNAJC19):c.210-2A>G	DNAJC19	Single nucleotide variant (splice acceptor variant)	3-methylglutaconic aciduria type 5	GLikely pathogenic
Select item 2833132	NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2824013	NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)	DNAJC19	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2814977	NM_145261.4(DNAJC19):c.210-4T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2793250	NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2764371	NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)	DNAJC19 (R59Q +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2730004	NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2717499	NM_145261.4(DNAJC19):c.280+1_280+5del	DNAJC19	Deletion (splice donor variant)	3-methylglutaconic aciduria type 5	GLikely pathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2573662	NM_145261.4(DNAJC19):c.198dup (p.Leu67fs)	DNAJC19 (L42fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2503858	NM_145261.4(DNAJC19):c.210-18A>G	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5 +1 more	GConflicting classifications of pathogenicity
Select item 2440940	NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)	DNAJC19 (K52E +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2427336	NC_000003.11:g.(?_180332709)_(180707390_?)del	CCDC39, DNAJC19 +1 more	Deletion	3-methylglutaconic aciduria type 5	GPathogenic
Select item 2201358	NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)	DNAJC19 (G43D +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2198930	NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)	DNAJC19 (E111A +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2194846	NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)	DNAJC19 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2189633	NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)	DNAJC19 (Y24H +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2185705	NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)	DNAJC19 (I74fs +1 more)	Duplication (frameshift variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2169935	NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)	DNAJC19 (E111K +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2167093	NM_145261.4(DNAJC19):c.281-4A>G	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2165764	NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)	DNAJC19 (A2T)	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2159905	NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2159904	NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)	DNAJC19	Deletion (inframe_deletion +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2157602	NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)	DNAJC19 (R59* +1 more)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria type 5	GPathogenic
Select item 2153014	NM_145261.4(DNAJC19):c.130-4T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2150977	NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)	DNAJC19 (S21G +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2140962	NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)	DNAJC19 (V22I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2129907	NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)	DNAJC19 (A106T +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2126212	NM_145261.4(DNAJC19):c.56-7G>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2112095	NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)	DNAJC19 (A14V)	Single nucleotide variant (missense variant +2 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2107195	NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)	DNAJC19 (G51R +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2084488	NM_145261.4(DNAJC19):c.210-14_210-11del	DNAJC19	Deletion (intron variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2080942	NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)	DNAJC19 (H82Q +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 2065740	NM_145261.4(DNAJC19):c.55+10T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2060886	NM_145261.4(DNAJC19):c.84T>C (p.His28=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 2039814	NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)	DNAJC19 (A48T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2024044	NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)	DNAJC19 (I41M +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1978111	NM_145261.4(DNAJC19):c.280+4_280+7del	DNAJC19	Deletion (splice donor variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1954116	NM_145261.4(DNAJC19):c.281-21_281-20del	DNAJC19	Deletion (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1934721	NM_145261.4(DNAJC19):c.280+15A>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1927218	NM_145261.4(DNAJC19):c.209+19T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1903999	NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1703376	NM_145261.4(DNAJC19):c.137G>T (p.Ser46Ile)	DNAJC19 (S21I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691439	NM_145261.4(DNAJC19):c.129+1G>A	DNAJC19	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1665823	NM_145261.4(DNAJC19):c.281-5T>A	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1659312	NM_145261.4(DNAJC19):c.280+19C>A	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1648385	NM_145261.4(DNAJC19):c.3+13T>C	DNAJC19	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1646446	NM_145261.4(DNAJC19):c.55+20A>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1640522	NM_145261.4(DNAJC19):c.348A>G (p.Lys116=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1631156	NM_145261.4(DNAJC19):c.210-14_210-13del	DNAJC19	Deletion (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1626436	NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=)	DNAJC19	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1612656	NM_145261.4(DNAJC19):c.209+11C>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1598383	NM_145261.4(DNAJC19):c.129+11G>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1591359	NM_145261.4(DNAJC19):c.210-17T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1580567	NM_145261.4(DNAJC19):c.210-19C>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1576706	NM_145261.4(DNAJC19):c.288T>G (p.Ser96=)	DNAJC19	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1563564	NM_145261.4(DNAJC19):c.280+16A>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1532330	NM_145261.4(DNAJC19):c.281-15dup	DNAJC19	Duplication (intron variant)	3-methylglutaconic aciduria type 5	GBenign
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1507838	NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)	DNAJC19 (A25T)	Single nucleotide variant (non-coding transcript variant +2 more)	3-methylglutaconic aciduria type 5 +1 more	GUncertain significance
Select item 1502917	NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser)	DNAJC19 (L84S +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1498100	NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val)	DNAJC19 (G43V +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1493559	NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)	DNAJC19 (E111Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1483790	NM_145261.4(DNAJC19):c.129+6A>G	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1479177	NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser)	DNAJC19 (G23S +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1474649	NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)	DNAJC19 (G43S +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1460139	NC_000003.11:g.(?_180707368)_(180707390_?)del	DNAJC19	Deletion	3-methylglutaconic aciduria type 5	GPathogenic
Select item 1444627	NM_145261.4(DNAJC19):c.280+5G>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1406083	NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser)	DNAJC19 (N74S +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1400798	NM_145261.4(DNAJC19):c.167C>A (p.Pro56His)	DNAJC19 (P31H +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1396288	NM_145261.4(DNAJC19):c.280+1G>A	DNAJC19	Single nucleotide variant (splice donor variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1360309	NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val)	DNAJC19 (L109V +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1359690	NM_145261.4(DNAJC19):c.83A>G (p.His28Arg)	DNAJC19 (H28R +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1352732	NM_145261.4(DNAJC19):c.55+5G>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1349917	NM_145261.4(DNAJC19):c.55+1G>A	DNAJC19	Single nucleotide variant (splice donor variant)	3-methylglutaconic aciduria type 5	GPathogenic/Likely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 1324286	NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)	DNAJC19	Deletion (5 prime UTR variant +2 more)	3-methylglutaconic aciduria type 5	GPathogenic/Likely pathogenic
Select item 1299515	NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)	DNAJC19 (Y21*)	Duplication (5 prime UTR variant +2 more)	3-methylglutaconic aciduria type 5	GPathogenic
Select item 1278417	NM_145261.4(DNAJC19):c.210-296_210-295insC	DNAJC19	Insertion (intron variant)	not provided	GBenign
Select item 1269631	NM_145261.4(DNAJC19):c.4-143dup	DNAJC19	Duplication (intron variant)	not provided	GBenign
Select item 1253152	NM_145261.4(DNAJC19):c.*188G>A	DNAJC19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1252282	NM_145261.4(DNAJC19):c.4-129_4-128insG	DNAJC19	Insertion (intron variant)	not provided	GBenign

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