"Ambry Genetics"[submitter] AND "FCER1A"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2319677	NM_001387280.1(FCER1A):c.184A>G (p.Thr62Ala)	FCER1A (T29A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454361	NM_001387280.1(FCER1A):c.200A>G (p.Asn67Ser)	FCER1A (N67S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325062	NM_001387280.1(FCER1A):c.206G>A (p.Ser69Asn)	FCER1A (S36N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295662	NM_001387280.1(FCER1A):c.374G>T (p.Gly125Val)	FCER1A (G125V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298483	NM_001387280.1(FCER1A):c.385T>A (p.Phe129Ile)	FCER1A (F129I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253091	NM_001387280.1(FCER1A):c.415G>A (p.Asp139Asn)	FCER1A (D139N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537959	NM_001387280.1(FCER1A):c.418G>A (p.Val140Met)	FCER1A (V140M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552976	NM_001387280.1(FCER1A):c.474C>A (p.Asn158Lys)	FCER1A (N73K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611496	NM_001387280.1(FCER1A):c.566C>T (p.Pro189Leu)	FCER1A (P104L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350193	NM_001387280.1(FCER1A):c.724G>T (p.Gly242Cys)	FCER1A (G157C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344013	NM_001387280.1(FCER1A):c.725G>C (p.Gly242Ala)	FCER1A (G242A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463169	NM_001387280.1(FCER1A):c.734T>A (p.Leu245His)	FCER1A (L245H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405481	NM_001387280.1(FCER1A):c.734T>G (p.Leu245Arg)	FCER1A (L160R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance