DNAJC19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 344288	NM_145261.4(DNAJC19):c.*528GT[9]	DNAJC19	Microsatellite (3 prime UTR variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 344290	NM_145261.4(DNAJC19):c.*488G>C	DNAJC19	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 344295	NM_145261.4(DNAJC19):c.*190ATTA[1]	DNAJC19	Microsatellite (3 prime UTR variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
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 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 1045827	NM_145261.4(DNAJC19):c.348del (p.Lys116fs)	DNAJC19 (K116fs +1 more)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 1035808	NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)	DNAJC19 (K115R +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 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 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 1493559	NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)	DNAJC19 (E111Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 1123877	NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5 +1 more	GLikely benign
Select item 120181	NM_145261.4(DNAJC19):c.300del (p.Ala101fs)	DNAJC19 (A101fs +1 more)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 5	GPathogenic
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 1002196	NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)	DNAJC19 (I74V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 872142	NM_145261.4(DNAJC19):c.292dup (p.Tyr98fs)	DNAJC19 (Y73fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1576706	NM_145261.4(DNAJC19):c.288T>G (p.Ser96=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 137121	NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 214300	NM_145261.4(DNAJC19):c.281G>T (p.Gly94Val)	DNAJC19 (G94V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3036096	NM_145261.4(DNAJC19):c.281-4A>T	DNAJC19	Single nucleotide variant (intron variant)	DNAJC19-related disorder	GLikely benign
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 1665823	NM_145261.4(DNAJC19):c.281-5T>A	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 214297	NM_145261.4(DNAJC19):c.281-12T>C	DNAJC19	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1532330	NM_145261.4(DNAJC19):c.281-15dup	DNAJC19	Duplication (intron variant)	3-methylglutaconic aciduria type 5	GBenign
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 2975972	NM_145261.4(DNAJC19):c.281-21_281-19del	DNAJC19	Deletion (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
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 1201041	NM_145261.4(DNAJC19):c.281-160A>T	DNAJC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676303	NM_145261.4(DNAJC19):c.280+129G>A	DNAJC19	Single nucleotide variant (intron variant)	not provided	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 1563564	NM_145261.4(DNAJC19):c.280+16A>T	DNAJC19	Single nucleotide variant (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 1978111	NM_145261.4(DNAJC19):c.280+4_280+7del	DNAJC19	Deletion (splice donor variant)	3-methylglutaconic aciduria type 5	GUncertain significance
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 1444627	NM_145261.4(DNAJC19):c.280+5G>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GUncertain significance
Select item 779507	NM_145261.4(DNAJC19):c.280+2dup	DNAJC19	Duplication (splice donor variant)	3-methylglutaconic aciduria type 5	GLikely benign
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 1027288	NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)	DNAJC19 (L62F +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GUncertain significance
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 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 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 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 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 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 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 2039814	NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)	DNAJC19 (A48T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
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 2814977	NM_145261.4(DNAJC19):c.210-4T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 705383	NM_145261.4(DNAJC19):c.210-7T>A	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GBenign
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 2919469	NM_145261.4(DNAJC19):c.210-12T>A	DNAJC19	Single nucleotide variant (intron variant)	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 1591359	NM_145261.4(DNAJC19):c.210-17T>C	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
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 1580567	NM_145261.4(DNAJC19):c.210-19C>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
Select item 1237198	NM_145261.4(DNAJC19):c.210-305dup	DNAJC19	Duplication (intron variant)	not provided	GBenign
Select item 1212192	NM_145261.4(DNAJC19):c.210-291del	DNAJC19	Deletion (intron variant)	not provided	GLikely benign
Select item 1278417	NM_145261.4(DNAJC19):c.210-296_210-295insC	DNAJC19	Insertion (intron variant)	not provided	GBenign
Select item 676722	NM_145261.4(DNAJC19):c.209+95C>G	DNAJC19	Single nucleotide variant (intron variant)	not provided	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 1612656	NM_145261.4(DNAJC19):c.209+11C>T	DNAJC19	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 5	GLikely benign
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 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 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 2573662	NM_145261.4(DNAJC19):c.198dup (p.Leu67fs)	DNAJC19 (L42fs +1 more)	Duplication (frameshift variant +1 more)	not provided	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 632790	NM_145261.4(DNAJC19):c.192A>G (p.Ala64=)	DNAJC19	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 214299	NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)	DNAJC19 (R61Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214298	NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)	DNAJC19 (R61W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 993012	NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)	DNAJC19 (G28E +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GLikely pathogenic
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 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 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 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 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 1951	NM_145261.4(DNAJC19):c.130-1G>C	DNAJC19	Single nucleotide variant (splice acceptor variant)	DNAJC19-related disorder +1 more	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 1201473	NM_145261.4(DNAJC19):c.130-38_130-34del	DNAJC19	Microsatellite (intron variant)	not provided	GLikely benign
Select item 672546	NM_145261.4(DNAJC19):c.130-292T>C	DNAJC19	Single nucleotide variant (intron variant)	not provided	GLikely benign

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