ClinVar for Gene (Select 130057690) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
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 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
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