CD3G[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 181

<< First< Prev

Page of 2

	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 302678	NM_000073.3(CD3G):c.-62GCTG[4]	CD3D, CD3G	Microsatellite (5 prime UTR variant)	Severe combined immunodeficiency disease +1 more	GBenign/Likely benign
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 12753	NM_000073.3(CD3G):c.1A>G (p.Met1Val)	CD3G (M1V)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 950997	NM_000073.3(CD3G):c.11G>T (p.Gly4Val)	CD3G (G4V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1954180	NM_000073.3(CD3G):c.12G>A (p.Gly4=)	CD3G	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 965164	NM_000073.3(CD3G):c.13A>T (p.Lys5Ter)	CD3G (K5*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 1359225	NM_000073.3(CD3G):c.16G>C (p.Gly6Arg)	CD3G (G6R)	Single nucleotide variant (missense 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 580921	NM_000073.3(CD3G):c.33C>G (p.Ile11Met)	CD3G (I11M)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 649896	NM_000073.3(CD3G):c.36G>A (p.Leu12=)	CD3G	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 845191	NM_000073.3(CD3G):c.37G>A (p.Ala13Thr)	CD3G (A13T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1062542	NM_000073.3(CD3G):c.38C>T (p.Ala13Val)	CD3G (A13V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 643291	NM_000073.3(CD3G):c.40A>G (p.Ile14Val)	CD3G (I14V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GUncertain significance
Select item 1381729	NM_000073.3(CD3G):c.41T>A (p.Ile14Asn)	CD3G (I14N)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1139841	NM_000073.3(CD3G):c.55+8C>T	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2027150	NM_000073.3(CD3G):c.55+11_55+23delinsGGCTATCATTCTTCTTCAAGGTAAGGGCCTTC	CD3G	Indel (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 2026619	NM_000073.3(CD3G):c.55+11A>G	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2026620	NM_000073.3(CD3G):c.55+12C>G	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1560346	NM_000073.3(CD3G):c.55+14A>G	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2026621	NM_000073.3(CD3G):c.55+15G>A	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1104403	NM_000073.3(CD3G):c.55+16G>A	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2026622	NM_000073.3(CD3G):c.55+19T>C	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1574168	NM_000073.3(CD3G):c.56-17C>A	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1557905	NM_000073.3(CD3G):c.56-17C>T	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 794659	NM_000073.3(CD3G):c.56-5T>C	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 541656	NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)	CD3G (G19D)	Single nucleotide variant (missense variant)	CD3G-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 474800	NM_000073.3(CD3G):c.64G>A (p.Ala22Thr)	CD3G (A22T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GBenign
Select item 1964376	NM_000073.3(CD3G):c.70_79+5del	CD3G	Deletion (splice donor variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely pathogenic
Select item 1156640	NM_000073.3(CD3G):c.69G>A (p.Gln23=)	CD3G	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1452317	NM_000073.3(CD3G):c.71C>G (p.Ser24Ter)	CD3G (S24*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 1116724	NM_000073.3(CD3G):c.72A>T (p.Ser24=)	CD3G	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1110222	NM_000073.3(CD3G):c.72A>C (p.Ser24=)	CD3G	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1020660	NM_000073.3(CD3G):c.79+3A>G	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 863273	NM_000073.3(CD3G):c.79+4G>A	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
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 2642412	NM_000073.3(CD3G):c.79+45C>T	CD3G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413366	NM_000073.3(CD3G):c.80-19A>G	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2197642	NM_000073.3(CD3G):c.80-18C>A	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1610668	NM_000073.3(CD3G):c.80-18C>T	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1617739	NM_000073.3(CD3G):c.80-17G>A	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2825288	NM_000073.3(CD3G):c.80-10C>T	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 12754	NM_000073.2(CD3G):c.80_96del	CD3G, LOC126861358	Deletion	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 2097316	NM_000073.3(CD3G):c.98T>C (p.Val33Ala)	CD3G, LOC126861358 (V33A)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1485385	NM_000073.3(CD3G):c.101A>G (p.Tyr34Cys)	LOC126861358, CD3G (Y34C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 2833798	NM_000073.3(CD3G):c.109C>T (p.Gln37Ter)	CD3G, LOC126861358 (Q37*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 2163727	NM_000073.3(CD3G):c.111A>G (p.Gln37=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1153228	NM_000073.3(CD3G):c.114A>G (p.Glu38=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1473494	NM_000073.3(CD3G):c.122C>G (p.Ser41Trp)	CD3G, LOC126861358 (S41W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 661867	NM_000073.3(CD3G):c.122C>T (p.Ser41Leu)	CD3G, LOC126861358 (S41L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1548064	NM_000073.3(CD3G):c.123G>A (p.Ser41=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 648713	NM_000073.3(CD3G):c.128T>C (p.Leu43Pro)	CD3G, LOC126861358 (L43P)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 2113843	NM_000073.3(CD3G):c.136T>C (p.Cys46Arg)	CD3G, LOC126861358 (C46R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1053355	NM_000073.3(CD3G):c.152A>G (p.Lys51Arg)	CD3G, LOC126861358 (K51R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 302681	NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)	CD3G, LOC126861358 (I53T)	Single nucleotide variant (missense variant)	CD3G-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1365816	NM_000073.3(CD3G):c.161C>T (p.Thr54Ile)	CD3G, LOC126861358 (T54I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 2139858	NM_000073.3(CD3G):c.162A>G (p.Thr54=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1945363	NM_000073.3(CD3G):c.162A>C (p.Thr54=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1435289	NM_000073.3(CD3G):c.163T>A (p.Trp55Arg)	CD3G, LOC126861358 (W55R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1999516	NM_000073.3(CD3G):c.168T>G (p.Phe56Leu)	CD3G, LOC126861358 (F56L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 541653	NM_000073.3(CD3G):c.170A>C (p.Lys57Thr)	CD3G, LOC126861358 (K57T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 2848491	NM_000073.3(CD3G):c.174T>C (p.Asp58=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2004804	NM_000073.3(CD3G):c.174T>A (p.Asp58Glu)	CD3G, LOC126861358 (D58E)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1070478	NM_000073.3(CD3G):c.178A>T (p.Lys60Ter)	CD3G, LOC126861358 (K60*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 572829	NM_000073.3(CD3G):c.187G>A (p.Gly63Ser)	CD3G, LOC126861358 (G63S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1140354	NM_000073.3(CD3G):c.189C>T (p.Gly63=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1970078	NM_000073.3(CD3G):c.192C>T (p.Phe64=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2080151	NM_000073.3(CD3G):c.193C>T (p.Leu65=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2612612	NM_000073.3(CD3G):c.199G>A (p.Glu67Lys)	CD3G, LOC126861358 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 580586	NM_000073.3(CD3G):c.213dup (p.Trp72fs)	CD3G, LOC126861358 (W72fs)	Duplication (frameshift variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GPathogenic/Likely pathogenic
Select item 541654	NM_000073.3(CD3G):c.213del (p.Lys71fs)	CD3G, LOC126861358 (K71fs)	Deletion (frameshift variant)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 100626	NM_000073.3(CD3G):c.205A>T (p.Lys69Ter)	CD3G, LOC126861358 (K69*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 1911451	NM_000073.3(CD3G):c.214T>A (p.Trp72Arg)	CD3G, LOC126861358 (W72R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 796059	NM_000073.3(CD3G):c.219T>C (p.Asn73=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 937048	NM_000073.3(CD3G):c.223G>A (p.Gly75Arg)	LOC126861358, CD3G (G75R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1640592	NM_000073.3(CD3G):c.231T>C (p.Asn77=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
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 1942058	NM_000073.3(CD3G):c.245G>C (p.Arg82Pro)	CD3G, LOC126861358 (R82P)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1387582	NM_000073.3(CD3G):c.245G>A (p.Arg82Gln)	CD3G, LOC126861358 (R82Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1397672	NM_000073.3(CD3G):c.259T>C (p.Cys87Arg)	CD3G, LOC126861358 (C87R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1696074	NM_000073.3(CD3G):c.271C>T (p.Gln91Ter)	CD3G, LOC126861358 (Q91*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 640654	NM_000073.3(CD3G):c.273G>C (p.Gln91His)	CD3G, LOC126861358 (Q91H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GUncertain significance
Select item 2703772	NM_000073.3(CD3G):c.282A>G (p.Ser94=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1504218	NM_000073.3(CD3G):c.294A>T (p.Gln98His)	CD3G, LOC126861358 (Q98H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1895976	NM_000073.3(CD3G):c.307+9T>A	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
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 1621225	NM_000073.3(CD3G):c.307+18G>A	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 949724	NM_000073.3(CD3G):c.308-13_308-6del	CD3G, LOC126861358	Deletion (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1648592	NM_000073.3(CD3G):c.308-13C>T	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1658819	NM_000073.3(CD3G):c.308-10T>G	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 1059596	NM_000073.3(CD3G):c.308-9T>G	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
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

<< First< Prev

Page of 2