"Ambry Genetics"[submitter] AND "HES1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2257767	NM_005524.4(HES1):c.278G>A (p.Arg93Gln)	HES1, LOC126806915 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276363	NM_005524.4(HES1):c.332G>T (p.Arg111Leu)	HES1 (R111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533289	NM_005524.4(HES1):c.412C>T (p.Arg138Trp)	HES1 (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228848	NM_005524.4(HES1):c.469G>C (p.Gly157Arg)	HES1, LOC129938190 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369978	NM_005524.4(HES1):c.544G>A (p.Ala182Thr)	HES1, LOC129938190 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105488	NM_005524.4(HES1):c.563T>C (p.Val188Ala)	HES1, LOC129938190 (V188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105489	NM_005524.4(HES1):c.578G>A (p.Gly193Asp)	HES1, LOC129938190 (G193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284126	NM_005524.4(HES1):c.587C>T (p.Pro196Leu)	HES1, LOC129938190 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105490	NM_005524.4(HES1):c.592C>T (p.Pro198Ser)	HES1, LOC129938190 (P198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518273	NM_005524.4(HES1):c.725G>C (p.Gly242Ala)	HES1, LOC129938191 (G242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284127	NM_005524.4(HES1):c.739G>C (p.Val247Leu)	HES1, LOC129938191 (V247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409974	NM_005524.4(HES1):c.809C>T (p.Thr270Met)	HES1, LOC129938191 (T270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance