"GeneDx"[submitter] AND "CD3D"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 518236	NM_000732.6(CD3D):c.451-18T>G	CD3D	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1291549	NM_000732.6(CD3D):c.450+60C>G	CD3D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 420806	NM_000732.6(CD3D):c.416C>T (p.Thr139Ile)	CD3D (T139I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19 +1 more	GUncertain significance
Select item 389289	NM_000732.6(CD3D):c.411C>T (p.Ala137=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19 +1 more	GLikely benign
Select item 1291558	NM_000732.6(CD3D):c.406+34GT[18]	CD3D	Microsatellite (intron variant)	not provided	GBenign
Select item 1287661	NM_000732.6(CD3D):c.406+34GT[17]	CD3D	Microsatellite (intron variant)	not provided	GBenign
Select item 1267430	NM_000732.6(CD3D):c.406+34GT[19]	CD3D	Microsatellite (intron variant)	not provided	GBenign
Select item 1276534	NM_000732.6(CD3D):c.406+34GT[14]	CD3D	Microsatellite (intron variant)	not provided	GBenign
Select item 1257778	NM_000732.6(CD3D):c.406+34GT[15]	CD3D	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 136688	NM_000732.6(CD3D):c.406+18G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19 +2 more	GBenign
Select item 1170068	NM_000732.6(CD3D):c.275-18T>C	CD3D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 506971	NM_000732.6(CD3D):c.56-17T>C	CD3D	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1204731	NM_000732.6(CD3D):c.55+289C>T	CD3D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215407	NC_000011.10:g.118342813G>A	CD3D	Single nucleotide variant	not provided	GLikely benign
Select item 1286140	NC_000011.10:g.118342917C>T	CD3D	Single nucleotide variant	not provided	GBenign
Select item 1203803	NC_000011.10:g.118343086G>A	CD3D	Single nucleotide variant	not provided	GLikely benign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic