ClinVar for MedGen (Select 816437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2696545	NM_000073.3(CD3G):c.484-17T>A	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
Select item 2431635	NM_000073.3:c.70_80del	CD3G	Deletion	Combined immunodeficiency due to CD3gamma deficiency	GLikely pathogenic
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
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 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 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 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 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 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 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 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 2053595	NM_000073.3(CD3G):c.513C>G (p.Tyr171Ter)	CD3G (Y171*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
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 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 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 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 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 2010246	NM_000073.3(CD3G):c.484-13C>T	CD3G	Single nucleotide variant (intron 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 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 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 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 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 1964376	NM_000073.3(CD3G):c.70_79+5del	CD3G	Deletion (splice donor variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely pathogenic
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 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 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 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 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 1671299	NM_000073.3(CD3G):c.440-7del	CD3G	Deletion (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GBenign
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 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 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 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 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 1612448	NM_000073.3(CD3G):c.440-19_440-18del	CD3G	Deletion (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
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 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 1577378	NM_000073.3(CD3G):c.484-4C>A	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 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 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 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 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 1492719	NM_000073.3(CD3G):c.484C>A (p.Pro162Thr)	CD3G (P162T)	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 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 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 1461017	NM_000073.3(CD3G):c.466A>C (p.Asn156His)	CD3G (N156H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1457956	NM_000073.3(CD3G):c.496C>T (p.Arg166Ter)	CD3G (R166*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
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 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 1430850	NM_000073.3(CD3G):c.497G>A (p.Arg166Gln)	CD3G (R166Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1408937	NC_000011.9:g.(?_118209877)_(118219785_?)dup	CD3D, CD3G	Duplication	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance
Select item 1399463	NM_000073.3(CD3G):c.529A>G (p.Asn177Asp)	CD3G (N177D)	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 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 1382299	NM_000073.3(CD3G):c.458T>C (p.Leu153Pro)	CD3G (L153P)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to CD3gamma deficiency	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 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 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 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 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 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 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 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 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 1134617	NM_000073.3(CD3G):c.484-4C>G	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GLikely benign
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 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 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 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 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 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 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 1056865	NM_000073.3(CD3G):c.521T>C (p.Leu174Pro)	CD3G (L174P)	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 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 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 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Immunodeficiency 18 +4 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 877940	NM_000073.3(CD3G):c.*650C>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 863273	NM_000073.3(CD3G):c.79+4G>A	CD3G	Single nucleotide variant (intron variant)	Combined immunodeficiency due to CD3gamma deficiency	GUncertain significance

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