"Ambry Genetics"[submitter] AND "LOC130059914"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105777	NM_006497.4(HIC1):c.751A>G (p.Ser251Gly)	HIC1, LOC130059914 (S270G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350930	NM_006497.4(HIC1):c.796G>A (p.Ala266Thr)	HIC1, LOC130059914 (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350931	NM_006497.4(HIC1):c.797C>G (p.Ala266Gly)	HIC1, LOC130059914 (A266G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105778	NM_006497.4(HIC1):c.799C>G (p.Leu267Val)	HIC1, LOC130059914 (L286V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105779	NM_006497.4(HIC1):c.805T>C (p.Ser269Pro)	HIC1, LOC130059914 (S269P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105780	NM_006497.4(HIC1):c.866G>T (p.Arg289Leu)	HIC1, LOC130059914 (R308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245392	NM_006497.4(HIC1):c.866G>A (p.Arg289His)	HIC1, LOC130059914 (R308H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284262	NM_006497.4(HIC1):c.913G>A (p.Gly305Arg)	HIC1, LOC130059914 (G324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284257	NM_006497.4(HIC1):c.929A>G (p.Tyr310Cys)	HIC1, LOC130059914 (Y310C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284261	NM_006497.4(HIC1):c.932G>A (p.Arg311His)	HIC1, LOC130059914 (R311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514121	NM_006497.4(HIC1):c.1003G>C (p.Glu335Gln)	HIC1, LOC130059914 (E335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105771	NM_006497.4(HIC1):c.1006C>T (p.Arg336Cys)	HIC1, LOC130059914 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance