"Invitae"[submitter] AND "LOC126861358"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not provided +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	GUncertain significance
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 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	GConflicting classifications of pathogenicity
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 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 644192	NM_000073.3(CD3G):c.326A>G (p.Glu109Gly)	CD3G, LOC126861358 (E109G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1997728	NM_000073.3(CD3G):c.338C>G (p.Ala113Gly)	CD3G, LOC126861358 (A113G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1491711	NM_000073.3(CD3G):c.338C>T (p.Ala113Val)	CD3G, LOC126861358 (A113V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 849416	NM_000073.3(CD3G):c.353T>C (p.Phe118Ser)	CD3G, LOC126861358 (F118S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1993104	NM_000073.3(CD3G):c.357_358del (p.Phe120fs)	CD3G, LOC126861358 (F120fs)	Microsatellite (frameshift variant)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 2172334	NM_000073.3(CD3G):c.364G>A (p.Glu122Lys)	CD3G, LOC126861358 (E122K)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1354605	NM_000073.3(CD3G):c.368del (p.Ile123fs)	CD3G, LOC126861358 (I123fs)	Deletion (frameshift variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1611526	NM_000073.3(CD3G):c.381C>T (p.Phe127=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2110132	NM_000073.3(CD3G):c.386T>G (p.Leu129Arg)	CD3G, LOC126861358 (L129R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 661539	NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe)	CD3G, LOC126861358	Indel (missense variant)	not specified +1 more	GUncertain significance
Select item 474799	NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe)	CD3G, LOC126861358 (V131F)	Indel (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GBenign
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 1114340	NM_000073.3(CD3G):c.393T>C (p.Val131=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 756049	NM_000073.3(CD3G):c.417G>A (p.Gln139=)	CD3G, LOC126861358	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1010005	NM_000073.3(CD3G):c.437G>C (p.Arg146Thr)	CD3G, LOC126861358 (R146T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1168135	NM_000073.3(CD3G):c.439+11G>A	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GBenign
Select item 445361	NM_000073.3(CD3G):c.439+12C>T	CD3G, LOC126861358	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 69