ClinVar for Gene (Select 84419) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	DUOXA1, DUOXA2 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2424188	NC_000015.9:g.(?_45656975)_(45884494_?)dup	AFG2B, BLOC1S6 +3 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2248047	NM_197955.3(C15orf48):c.64G>C (p.Val22Leu)	C15orf48 (V22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526450	GRCh37/hg19 15q21.1(chr15:45056077-45772114)	C15orf48, DUOX1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	B2M, BLOC1S6 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 980034	GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3	SORD, TERB2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685684	GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3	C15orf48, DUOX1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	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 +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442681	GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	AFG2B, C15orf48 +10 more	Copy number gain	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253933	GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	C15orf48, TERB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 24