LOC126806176[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 2610838	NM_014860.3(SUPT7L):c.1184G>C (p.Ser395Thr)	LOC126806176, SUPT7L (S260T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488434	NM_014860.3(SUPT7L):c.1166G>A (p.Gly389Asp)	LOC126806176, SUPT7L (G387D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477838	NM_014860.3(SUPT7L):c.1114A>G (p.Met372Val)	LOC126806176, SUPT7L (M372V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357810	NM_014860.3(SUPT7L):c.1063T>G (p.Ser355Ala)	LOC126806176, SUPT7L (S353A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510036	NM_014860.3(SUPT7L):c.1052A>G (p.Glu351Gly)	LOC126806176, SUPT7L (E216G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance