CD3D[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 302669	NM_000732.6(CD3D):c.*59C>T	CD3D	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 19	GBenign
Select item 302670	NM_000732.6(CD3D):c.510C>T (p.Asn170=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GConflicting classifications of pathogenicity
Select item 1016811	NM_000732.6(CD3D):c.506G>A (p.Arg169Gln)	CD3D (R125Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 962292	NM_000732.6(CD3D):c.505C>T (p.Arg169Trp)	CD3D (R125W +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19 +1 more	GUncertain significance
Select item 1367674	NM_000732.6(CD3D):c.491G>C (p.Gly164Ala)	CD3D (G120A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2822781	NM_000732.6(CD3D):c.486C>T (p.His162=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 639952	NM_000732.6(CD3D):c.485A>T (p.His162Leu)	CD3D (H118L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2962597	NM_000732.6(CD3D):c.480C>T (p.Tyr160=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2893415	NM_000732.6(CD3D):c.477G>A (p.Gln159=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2836217	NM_000732.6(CD3D):c.465A>C (p.Arg155=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 474829	NM_000732.6(CD3D):c.463C>T (p.Arg155Ter)	CD3D (R155* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 19	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 2152873	NM_000732.6(CD3D):c.458G>A (p.Arg153Gln)	CD3D (R109Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 940758	NM_000732.6(CD3D):c.457C>T (p.Arg153Ter)	CD3D (R153* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 19	GUncertain significance
Select item 653087	NM_000732.6(CD3D):c.457C>G (p.Arg153Gly)	CD3D (R109G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 849523	NM_000732.6(CD3D):c.455T>C (p.Leu152Pro)	CD3D (L152P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 3068902	NM_000732.6(CD3D):c.453_454del (p.Leu152fs)	CD3D (L108fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1662389	NM_000732.6(CD3D):c.453C>T (p.Pro151=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 2777074	NM_000732.6(CD3D):c.451-7C>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1090761	NM_000732.6(CD3D):c.451-9_451-7del	CD3D	Microsatellite (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2192122	NM_000732.6(CD3D):c.451-8T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2115956	NM_000732.6(CD3D):c.451-9C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2716434	NM_000732.6(CD3D):c.451-12C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1614860	NM_000732.6(CD3D):c.451-15C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2767048	NM_000732.6(CD3D):c.451-18T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 518236	NM_000732.6(CD3D):c.451-18T>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19 +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 1586194	NM_000732.6(CD3D):c.450+19G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2831423	NM_000732.6(CD3D):c.450+18G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1370612	NM_000732.6(CD3D):c.450+14G>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1132213	NM_000732.6(CD3D):c.450+8T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2159334	NM_000732.6(CD3D):c.450+7G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 879824	NM_000732.6(CD3D):c.450+7G>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GConflicting classifications of pathogenicity
Select item 35805	NM_000732.6(CD3D):c.450+6C>T	CD3D	Single nucleotide variant (intron variant)	Severe combined immunodeficiency disease +1 more	GUncertain significance
Select item 2912701	NM_000732.6(CD3D):c.444C>G (p.Val148=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 645619	NM_000732.6(CD3D):c.440A>G (p.Gln147Arg)	CD3D (Q103R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 1391251	NM_000732.6(CD3D):c.435T>A (p.Asn145Lys)	CD3D (N145K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2746145	NM_000732.6(CD3D):c.430A>C (p.Arg144=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 1395852	NM_000732.6(CD3D):c.418C>G (p.Gln140Glu)	CD3D (Q96E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 541673	NM_000732.6(CD3D):c.418C>A (p.Gln140Lys)	CD3D (Q140K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 420806	NM_000732.6(CD3D):c.416C>T (p.Thr139Ile)	CD3D (T139I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1022082	NM_000732.6(CD3D):c.412G>A (p.Asp138Asn)	CD3D (D138N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 2701304	NM_000732.6(CD3D):c.411C>A (p.Ala137=)	CD3D	Single nucleotide variant (synonymous variant)	Immunodeficiency 19	GLikely benign
Select item 389289	NM_000732.6(CD3D):c.411C>T (p.Ala137=)	CD3D	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2126383	NM_000732.6(CD3D):c.407C>G (p.Ala136Gly)	CD3D (A136G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 19	GUncertain significance
Select item 1508408	NM_000732.6(CD3D):c.407-1G>A	CD3D	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 19	GLikely pathogenic
Select item 1468778	NM_000732.6(CD3D):c.407-2A>G	CD3D	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 19	GLikely pathogenic
Select item 2909914	NM_000732.6(CD3D):c.407-7C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2859520	NM_000732.6(CD3D):c.407-10G>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2829609	NM_000732.6(CD3D):c.407-10G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2133603	NM_000732.6(CD3D):c.407-19CT[3]	CD3D	Microsatellite (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2843821	NM_000732.6(CD3D):c.407-13C>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1534048	NM_000732.6(CD3D):c.407-15C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2425706	NM_000732.6(CD3D):c.407-17C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2765131	NM_000732.6(CD3D):c.407-18T>C	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	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 specified +1 more	GBenign
Select item 136688	NM_000732.6(CD3D):c.406+18G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19 +1 more	GBenign
Select item 2967760	NM_000732.6(CD3D):c.406+14C>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2704297	NM_000732.6(CD3D):c.406+14C>T	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2838513	NM_000732.6(CD3D):c.406+12A>G	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 2871336	NM_000732.6(CD3D):c.406+7G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GLikely benign
Select item 1402654	NM_000732.6(CD3D):c.406+5G>A	CD3D	Single nucleotide variant (intron variant)	Immunodeficiency 19	GUncertain significance
Select item 2810710	NM_000732.6(CD3D):c.406+1G>T	CD3D	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 19	GLikely pathogenic
Select item 2971957	NM_000732.6(CD3D):c.404G>A (p.Gly135Glu)	CD3D (G135E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 846720	NM_000732.6(CD3D):c.403G>A (p.Gly135Arg)	CD3D (G135R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2740560	NM_000732.6(CD3D):c.399G>C (p.Leu133=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2736334	NM_000732.6(CD3D):c.396G>A (p.Arg132=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 764400	NM_000732.6(CD3D):c.390T>C (p.Thr130=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 636432	NM_000732.6(CD3D):c.386A>G (p.Glu129Gly)	CD3D (E129G)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19 +2 more	GUncertain significance
Select item 2717911	NM_000732.6(CD3D):c.384T>C (p.His128=)	CD3D	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 1375889	NM_000732.6(CD3D):c.383A>T (p.His128Leu)	CD3D (H128L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 970636	NM_000732.6(CD3D):c.382C>A (p.His128Asn)	CD3D (H128N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2966146	NM_000732.6(CD3D):c.381A>C (p.Gly127=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 1567417	NM_000732.6(CD3D):c.378T>C (p.Ala126=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 1415416	NM_000732.6(CD3D):c.373T>C (p.Phe125Leu)	CD3D (F125L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 763721	NM_000732.6(CD3D):c.360G>A (p.Leu120=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 1519670	NM_000732.6(CD3D):c.356C>A (p.Ala119Asp)	CD3D (A119D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 952605	NM_000732.6(CD3D):c.356C>T (p.Ala119Val)	CD3D (A119V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2960196	NM_000732.6(CD3D):c.351C>T (p.Leu117=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2772015	NM_000732.6(CD3D):c.346C>T (p.Leu116=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2150111	NM_000732.6(CD3D):c.344C>A (p.Thr115Asn)	CD3D (T115N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 2133775	NM_000732.6(CD3D):c.343A>C (p.Thr115Pro)	CD3D (T115P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 1479199	NM_000732.6(CD3D):c.343A>T (p.Thr115Ser)	CD3D (T115S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 1626019	NM_000732.6(CD3D):c.342C>T (p.Ala114=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 2960765	NM_000732.6(CD3D):c.327C>T (p.Val109=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign
Select item 840028	NM_000732.6(CD3D):c.317G>A (p.Gly106Asp)	CD3D (G106D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 19	GUncertain significance
Select item 755525	NM_000732.6(CD3D):c.309C>T (p.Thr103=)	CD3D	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 19	GLikely benign

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