LOC129934515[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154199	GRCh38/hg38 2q12.2-12.3(chr2:106170872-106809420)x3	UXS1, CD8B2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2236818	NM_001253875.2(UXS1):c.35C>T (p.Ala12Val)	LOC129934515, UXS1 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188109	NM_001253875.2(UXS1):c.28G>C (p.Val10Leu)	LOC129934515, UXS1 (V10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331819	NM_001253875.2(UXS1):c.22C>A (p.Arg8Ser)	LOC129934515, UXS1 (R8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619393	NM_001253875.2(UXS1):c.5T>C (p.Val2Ala)	LOC129934515, UXS1 (V2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance