"GeneDx"[submitter] AND "CD3E"[gene] - ClinVar

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Items: 29

	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 302657	NM_000733.3(CD3E):c.-112G>A	CD3E	Single nucleotide variant	not provided +1 more	GBenign
Select item 1178693	NM_000733.4(CD3E):c.-60+49A>G	CD3E	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1707210	NM_000733.4(CD3E):c.49+175G>A	CD3E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300877	NM_000733.4(CD3E):c.49+191G>A	CD3E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321578	NM_000733.4(CD3E):c.50-80C>A	CD3E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 302659	NM_000733.4(CD3E):c.54C>T (p.Gly18=)	CD3E	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 426577	NM_000733.4(CD3E):c.55G>A (p.Val19Ile)	CD3E (V19I)	Single nucleotide variant (missense variant)	Immunodeficiency 18 +1 more	GConflicting classifications of pathogenicity
Select item 1264033	NM_000733.4(CD3E):c.71-100T>C	CD3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291548	NM_000733.4(CD3E):c.85+41A>G	CD3E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291552	NM_000733.4(CD3E):c.85+44G>A	CD3E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1264272	NM_000733.4(CD3E):c.86-208T>C	CD3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257079	NM_000733.4(CD3E):c.86-67G>A	CD3E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241608	NM_000733.4(CD3E):c.86-39T>A	CD3E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 136689	NM_000733.4(CD3E):c.104-17C>T	CD3E	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3340358	NM_000733.4(CD3E):c.173del (p.Leu58fs)	CD3E (L58fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 136690	NM_000733.4(CD3E):c.216T>C (p.Asp72=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18 +2 more	GBenign
Select item 1294692	NM_000733.4(CD3E):c.352+152C>T	CD3E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290102	NM_000733.4(CD3E):c.353-151T>C	CD3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321599	NM_000733.4(CD3E):c.353-72C>T	CD3E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 877841	NM_000733.4(CD3E):c.353-11A>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18 +1 more	GBenign/Likely benign
Select item 35807	NM_000733.4(CD3E):c.507C>T (p.Gly169=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18 +2 more	GBenign/Likely benign
Select item 1291553	NM_000733.4(CD3E):c.521-23T>C	CD3E	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1235448	NM_000733.4(CD3E):c.567+137G>A	CD3E	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1241178	NM_000733.4(CD3E):c.567+283T>C	CD3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228519	NM_000733.4(CD3E):c.568-282A>G	CD3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 302665	NM_000733.4(CD3E):c.*48C>A	CD3E	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 302666	NM_000733.4(CD3E):c.*55C>A	CD3E	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 18 +1 more	GBenign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 29