DNAJA4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 2232530	NM_018602.4(DNAJA4):c.26G>C (p.Trp9Ser)	DNAJA4 (W9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645609	NM_001130182.2(DNAJA4):c.-14C>T	DNAJA4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3084378	NM_001130182.2(DNAJA4):c.-7A>G	DNAJA4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2253290	NM_001130182.2(DNAJA4):c.58G>C (p.Glu20Gln)	DNAJA4, LOC130057690 (E20Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288153	NM_001130182.2(DNAJA4):c.84G>C (p.Lys28Asn)	DNAJA4, LOC130057690 (K28N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263667	NM_001130182.2(DNAJA4):c.94A>C (p.Lys32Gln)	DNAJA4, LOC130057690 (K61Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084375	NM_001130182.2(DNAJA4):c.98A>G (p.Tyr33Cys)	DNAJA4, LOC130057690 (Y33C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267508	NM_001130182.2(DNAJA4):c.115C>G (p.Pro39Ala)	DNAJA4, LOC130057690 (P39A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402789	NM_001130182.2(DNAJA4):c.132+1348_132+1349del	DNAJA4 (M1fs)	Deletion (intron variant +2 more)	not specified	GLikely benign
Select item 2233988	NM_001130182.2(DNAJA4):c.205G>C (p.Glu69Gln)	DNAJA4 (E87Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389654	NM_001130182.2(DNAJA4):c.292C>T (p.Arg98Trp)	DNAJA4 (R116W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471637	NM_001130182.2(DNAJA4):c.322G>A (p.Val108Ile)	DNAJA4 (V137I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235491	NM_001130182.2(DNAJA4):c.337T>C (p.Ser113Pro)	DNAJA4 (S113P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377589	NM_001130182.2(DNAJA4):c.371C>T (p.Thr124Met)	DNAJA4 (T124M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371599	NM_001130182.2(DNAJA4):c.469C>T (p.Arg157Trp)	DNAJA4 (R130W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273024	NM_001130182.2(DNAJA4):c.477G>T (p.Met159Ile)	DNAJA4 (M159I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273021	NM_001130182.2(DNAJA4):c.498C>G (p.Ile166Met)	DNAJA4 (I139M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084376	NM_001130182.2(DNAJA4):c.522C>G (p.Ile174Met)	DNAJA4 (I192M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411455	NM_001130182.2(DNAJA4):c.559C>T (p.Arg187Cys)	DNAJA4 (R160C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084377	NM_001130182.2(DNAJA4):c.583G>A (p.Glu195Lys)	DNAJA4 (E168K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392695	NM_001130182.2(DNAJA4):c.602A>G (p.Lys201Arg)	DNAJA4 (K230R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348941	NM_001130182.2(DNAJA4):c.620A>T (p.Lys207Met)	DNAJA4 (K207M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293301	NM_001130182.2(DNAJA4):c.727G>A (p.Val243Met)	DNAJA4 (V216M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409635	NM_001130182.2(DNAJA4):c.772G>T (p.Asp258Tyr)	DNAJA4 (D231Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394537	NM_001130182.2(DNAJA4):c.797A>C (p.Gln266Pro)	DNAJA4 (Q239P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211120	NM_001130182.2(DNAJA4):c.830C>T (p.Thr277Met)	DNAJA4 (T277M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262058	NM_001130182.2(DNAJA4):c.856C>G (p.Leu286Val)	DNAJA4 (L259V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370539	NM_001130182.2(DNAJA4):c.968T>C (p.Ile323Thr)	DNAJA4 (I323T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084372	NM_001130182.2(DNAJA4):c.1017G>T (p.Lys339Asn)	DNAJA4 (K262N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550837	NM_001130182.2(DNAJA4):c.1021C>T (p.Pro341Ser)	DNAJA4 (P314S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273020	NM_001130182.2(DNAJA4):c.1027C>G (p.Leu343Val)	DNAJA4 (L361V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273023	NM_001130182.2(DNAJA4):c.1048C>G (p.Arg350Gly)	DNAJA4 (R273G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251870	NM_001130182.2(DNAJA4):c.1049G>C (p.Arg350Pro)	DNAJA4 (R273P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529931	NM_001130182.2(DNAJA4):c.1131C>A (p.His377Gln)	DNAJA4 (H300Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084374	NM_001130182.2(DNAJA4):c.1151A>G (p.Asp384Gly)	DNAJA4 (D196G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250288	NM_001130182.2(DNAJA4):c.1187C>T (p.Thr396Met)	DNAJA4 (T208M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809140	GRCh37/hg19 15q25.1(chr15:78488482-78757311)x3	ACSBG1, CRABP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564222	GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3	WDR61, SH2D7 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58