ClinVar for Gene (Select 64215) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273054	NM_022365.4(DNAJC1):c.986A>C (p.Glu329Ala)	DNAJC1 (E329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273053	NM_022365.4(DNAJC1):c.1584G>A (p.Pro528=)	DNAJC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3273052	NM_022365.4(DNAJC1):c.1048C>T (p.Pro350Ser)	DNAJC1 (P350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084436	NM_022365.4(DNAJC1):c.962G>A (p.Arg321Gln)	DNAJC1 (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084435	NM_022365.4(DNAJC1):c.899A>C (p.Asp300Ala)	DNAJC1 (D300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084434	NM_022365.4(DNAJC1):c.808G>C (p.Glu270Gln)	DNAJC1 (E270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084433	NM_022365.4(DNAJC1):c.645G>A (p.Met215Ile)	DNAJC1 (M215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084432	NM_022365.4(DNAJC1):c.320G>C (p.Arg107Thr)	DNAJC1 (R107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084431	NM_022365.4(DNAJC1):c.1255G>T (p.Gly419Trp)	DNAJC1 (G419W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685371	GRCh37/hg19 10p12.31(chr10:22065691-22160130)x1	DNAJC1	Copy number loss	not provided	GUncertain significance
Select item 2640347	NM_022365.4(DNAJC1):c.993A>G (p.Thr331=)	DNAJC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605528	NM_022365.4(DNAJC1):c.1250C>G (p.Ala417Gly)	DNAJC1 (A417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593980	NM_022365.4(DNAJC1):c.1472G>A (p.Arg491Gln)	DNAJC1 (R491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2541435	NM_022365.4(DNAJC1):c.137G>T (p.Arg46Leu)	DNAJC1 (R46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540173	NM_022365.4(DNAJC1):c.1660A>G (p.Ser554Gly)	DNAJC1 (S554G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528266	NM_022365.4(DNAJC1):c.514T>G (p.Ser172Ala)	DNAJC1 (S172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487030	NM_022365.4(DNAJC1):c.775G>C (p.Glu259Gln)	DNAJC1 (E259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484251	NM_022365.4(DNAJC1):c.311C>T (p.Thr104Ile)	DNAJC1 (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483676	NM_022365.4(DNAJC1):c.53G>A (p.Gly18Glu)	DNAJC1 (G18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483066	NM_022365.4(DNAJC1):c.559A>C (p.Lys187Gln)	DNAJC1 (K187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476168	NM_022365.4(DNAJC1):c.720C>G (p.His240Gln)	DNAJC1 (H240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475922	NM_022365.4(DNAJC1):c.1304C>T (p.Thr435Ile)	DNAJC1 (T435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466659	NM_022365.4(DNAJC1):c.13T>C (p.Cys5Arg)	DNAJC1 (C5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456191	NM_022365.4(DNAJC1):c.173T>C (p.Leu58Ser)	DNAJC1 (L58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455689	NM_022365.4(DNAJC1):c.35C>A (p.Pro12His)	DNAJC1 (P12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366694	NM_022365.4(DNAJC1):c.1322G>A (p.Arg441Gln)	DNAJC1 (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364847	NM_022365.4(DNAJC1):c.1334G>A (p.Arg445Gln)	DNAJC1 (R445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347983	NM_022365.4(DNAJC1):c.965C>T (p.Thr322Ile)	DNAJC1 (T322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347656	NM_022365.4(DNAJC1):c.232T>G (p.Ser78Ala)	DNAJC1 (S78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307626	NM_022365.4(DNAJC1):c.985G>A (p.Glu329Lys)	DNAJC1 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306292	NM_022365.4(DNAJC1):c.179A>C (p.Glu60Ala)	DNAJC1 (E60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284580	NM_022365.4(DNAJC1):c.1352T>C (p.Leu451Pro)	DNAJC1 (L451P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278183	NM_022365.4(DNAJC1):c.189G>C (p.Gln63His)	DNAJC1 (Q63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269297	NM_022365.4(DNAJC1):c.1487C>T (p.Pro496Leu)	DNAJC1 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213767	NM_022365.4(DNAJC1):c.1288T>G (p.Ser430Ala)	DNAJC1 (S430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808767	GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)x3	ARMC3, BMI1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1340437	GRCh37/hg19 10p12.31(chr10:22065691-22208630)x1	DNAJC1	Copy number loss	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 686574	GRCh37/hg19 10p12.31(chr10:19774176-22330966)x1	C10orf113, DNAJC1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442597	GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3	BMI1, COMMD3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221472	GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3	BMI1, COMMD3 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150847	GRCh38/hg38 10p12.31(chr10:20964970-22049554)x3	C10orf113, DNAJC1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52