C3810107[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302679	NM_000073.3(CD3G):c.-17G>T	CD3G	Single nucleotide variant (5 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302680	NM_000073.3(CD3G):c.32T>C (p.Ile11Thr)	CD3G (I11T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 541656	NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)	CD3G (G19D)	Single nucleotide variant (missense variant)	CD3G-related condition +2 more	GConflicting classifications of pathogenicity
Select item 474801	NM_000073.3(CD3G):c.79+10A>G	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GConflicting classifications of pathogenicity
Select item 302681	NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)	CD3G, LOC126861358 (I53T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 541654	NM_000073.3(CD3G):c.213del (p.Lys71fs)	CD3G, LOC126861358 (K71fs)	Deletion (frameshift variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GPathogenic/Likely pathogenic
Select item 878050	NM_000073.3(CD3G):c.243T>C (p.Pro81=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GConflicting classifications of pathogenicity
Select item 302682	NM_000073.3(CD3G):c.307+13C>T	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Immunodeficiency due to defect in CD3-gamma +1 more	GConflicting classifications of pathogenicity
Select item 302683	NM_000073.3(CD3G):c.308-4A>G	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302684	NM_000073.3(CD3G):c.390T>C (p.Ala130=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GBenign
Select item 302685	NM_000073.3(CD3G):c.391G>T (p.Val131Phe)	CD3G, LOC126861358 (V131F)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GBenign
Select item 879514	NM_000073.3(CD3G):c.467A>G (p.Asn156Ser)	CD3G (N156S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 541655	NM_000073.3(CD3G):c.496C>A (p.Arg166=)	CD3G	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GConflicting classifications of pathogenicity
Select item 302686	NM_000073.3(CD3G):c.511T>C (p.Tyr171His)	CD3G (Y171H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GConflicting classifications of pathogenicity
Select item 302687	NM_000073.3(CD3G):c.*112C>T	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 879515	NM_000073.3(CD3G):c.*141G>A	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 879516	NM_000073.3(CD3G):c.*216C>A	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302688	NM_000073.3(CD3G):c.*244A>G	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GBenign
Select item 879878	NM_000073.3(CD3G):c.*253G>A	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302689	NM_000073.3(CD3G):c.*308G>A	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 879879	NM_000073.3(CD3G):c.*363C>T	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 879880	NM_000073.3(CD3G):c.*426T>G	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302691	NM_000073.3(CD3G):c.*450T>G	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302693	NM_000073.3(CD3G):c.*453G>T	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GBenign
Select item 302694	NM_000073.3(CD3G):c.*500G>A	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 879881	NM_000073.3(CD3G):c.*551C>T	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 877939	NM_000073.3(CD3G):c.*617G>T	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 877940	NM_000073.3(CD3G):c.*650C>T	CD3G	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance

ClinVar

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Items: 28