HSPC102[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 2221265	NM_001282509.2(TSPAN16):c.373G>A (p.Val125Met)	HSPC102, TSPAN16 (V125M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183810	NM_001282509.2(TSPAN16):c.377C>T (p.Thr126Ile)	HSPC102, TSPAN16 (T101I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2330810	NM_001282509.2(TSPAN16):c.406G>A (p.Glu136Lys)	HSPC102, TSPAN16 (E111K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244558	NM_001282509.2(TSPAN16):c.671G>A (p.Gly224Glu)	HSPC102, TSPAN16 (G199E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance