"Ambry Genetics"[submitter] AND "CD3D"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1016811	NM_000732.6(CD3D):c.506G>A (p.Arg169Gln)	CD3D (R125Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19 +1 more	GUncertain significance
Select item 962292	NM_000732.6(CD3D):c.505C>T (p.Arg169Trp)	CD3D (R125W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3140583	NM_000732.6(CD3D):c.461A>G (p.Asp154Gly)	CD3D (D110G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 636432	NM_000732.6(CD3D):c.386A>G (p.Glu129Gly)	CD3D (E129G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2275702	NM_000732.6(CD3D):c.256G>A (p.Val86Met)	CD3D (V86M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140582	NM_000732.6(CD3D):c.248A>G (p.Glu83Gly)	CD3D (E83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1904316	NM_000732.6(CD3D):c.233T>C (p.Ile78Thr)	CD3D (I78T)	Single nucleotide variant (missense variant)	Immunodeficiency 19 +1 more	GUncertain significance
Select item 2605830	NM_000732.6(CD3D):c.210A>G (p.Ile70Met)	CD3D (I70M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460273	NM_000732.6(CD3D):c.188G>A (p.Arg63His)	CD3D (R63H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140579	NM_000732.6(CD3D):c.167C>G (p.Thr56Arg)	CD3D (T56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140578	NM_000732.6(CD3D):c.14C>T (p.Thr5Met)	CD3D (T5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign