ClinVar for Gene (Select 171177) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154117	NM_133639.4(RHOV):c.31C>T (p.Pro11Ser)	LOC130056876, RHOV (P11S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2424553	NC_000015.9:g.(?_40987528)_(41230232_?)dup	ZFYVE19, C15orf62 +9 more	Duplication	not provided	GUncertain significance
Select item 2358921	NM_133639.4(RHOV):c.52A>C (p.Thr18Pro)	LOC130056876, RHOV (T18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332080	NM_133639.4(RHOV):c.75C>G (p.Ser25Arg)	LOC130056876, RHOV (S25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317815	NM_133639.4(RHOV):c.76G>A (p.Ala26Thr)	LOC130056876, RHOV (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304875	NM_133639.4(RHOV):c.302C>G (p.Pro101Arg)	RHOV (P101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261953	NM_133639.4(RHOV):c.118G>A (p.Gly40Ser)	LOC130056876, RHOV (G40S)	Single nucleotide variant (missense variant)	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