"Ambry Genetics"[submitter] AND "LOC129929069"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2261120	NM_021170.4(HES4):c.638G>C (p.Gly213Ala)	HES4, LOC129929069 (G213A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360191	NM_021170.4(HES4):c.635C>G (p.Pro212Arg)	HES4, LOC129929069 (P212R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363714	NM_021170.4(HES4):c.629A>T (p.Gln210Leu)	HES4, LOC129929069 (Q178L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360190	NM_021170.4(HES4):c.620C>G (p.Ala207Gly)	HES4, LOC129929069 (A175G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389046	NM_021170.4(HES4):c.614C>T (p.Pro205Leu)	HES4, LOC129929069 (P173L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392662	NM_021170.4(HES4):c.605C>G (p.Pro202Arg)	HES4, LOC129929069 (P170R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529794	NM_021170.4(HES4):c.599C>T (p.Ala200Val)	HES4, LOC129929069 (A168V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292882	NM_021170.4(HES4):c.596G>T (p.Arg199Leu)	HES4, LOC129929069 (R199L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366625	NM_021170.4(HES4):c.572C>G (p.Pro191Arg)	HES4, LOC129929069 (P217R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461640	NM_021170.4(HES4):c.559C>T (p.Pro187Ser)	HES4, LOC129929069 (P155S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286486	NM_021170.4(HES4):c.481C>G (p.Pro161Ala)	HES4, LOC129929069 (P129A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467006	NM_021170.4(HES4):c.451G>C (p.Gly151Arg)	HES4, LOC129929069 (G119R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235539	NM_021170.4(HES4):c.430G>A (p.Ala144Thr)	HES4, LOC129929069 (A144T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481298	NM_021170.4(HES4):c.361G>A (p.Val121Met)	LOC129929069, HES4 (V121M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance