ClinVar for Gene (Select 2644) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099029	NM_005258.3(GCHFR):c.185G>A (p.Arg62His)	DNAJC17, GCHFR (R62H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063362	GRCh37/hg19 15q15.1(chr15:40892419-41125118)x3	C15orf62, DNAJC17 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2424553	NC_000015.9:g.(?_40987528)_(41230232_?)dup	ZFYVE19, C15orf62 +9 more	Duplication	not provided	GUncertain significance
Select item 2266868	NM_005258.3(GCHFR):c.238T>C (p.Cys80Arg)	DNAJC17, GCHFR (C80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic