GGT1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 199

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	DRICH1, FAM230I +162 more	Copy number gain	See cases	GUncertain significance
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	LOC130067094, LOC130067095 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 148096	GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3	ADORA2A, ADORA2A-AS1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2653000	NM_207644.3(LRRC75B):c.921C>T (p.Pro307=)	GGT1, LRRC75B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3120959	NM_207644.3(LRRC75B):c.862G>A (p.Ala288Thr)	GGT1, LRRC75B (A288T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324479	NM_207644.3(LRRC75B):c.844C>A (p.Leu282Ile)	GGT1, LRRC75B (L282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120958	NM_207644.3(LRRC75B):c.832G>C (p.Glu278Gln)	GGT1, LRRC75B (E278Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120957	NM_207644.3(LRRC75B):c.821C>T (p.Pro274Leu)	GGT1, LRRC75B (P274L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336783	NM_207644.3(LRRC75B):c.807G>C (p.Gln269His)	GGT1, LRRC75B (Q269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258986	NM_207644.3(LRRC75B):c.784G>A (p.Gly262Ser)	GGT1, LRRC75B (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120956	NM_207644.3(LRRC75B):c.691G>T (p.Ala231Ser)	GGT1, LRRC75B (A231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348871	NM_207644.3(LRRC75B):c.656G>A (p.Arg219Gln)	GGT1, LRRC75B (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366471	NM_207644.3(LRRC75B):c.626G>A (p.Arg209His)	GGT1, LRRC75B (R209H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354983	NM_207644.3(LRRC75B):c.571G>C (p.Gly191Arg)	GGT1, LRRC75B (G191R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120955	NM_207644.3(LRRC75B):c.533A>G (p.His178Arg)	GGT1, LRRC75B (H178R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226320	NM_207644.3(LRRC75B):c.502G>A (p.Val168Met)	GGT1, LRRC75B (V168M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2368092	NM_207644.3(LRRC75B):c.431G>C (p.Ser144Thr)	GGT1, LRRC75B (S144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347196	NM_207644.3(LRRC75B):c.400C>T (p.Arg134Cys)	GGT1, LRRC75B (R134C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2556499	NM_207644.3(LRRC75B):c.372C>G (p.His124Gln)	GGT1, LRRC75B (H124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478786	NM_207644.3(LRRC75B):c.365C>T (p.Thr122Ile)	GGT1, LRRC75B (T122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120954	NM_207644.3(LRRC75B):c.364A>G (p.Thr122Ala)	GGT1, LRRC75B (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254354	NM_207644.3(LRRC75B):c.325T>C (p.Ser109Pro)	GGT1, LRRC75B (S109P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308132	NM_207644.3(LRRC75B):c.284G>A (p.Arg95Gln)	GGT1, LRRC75B (R95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120952	NM_207644.3(LRRC75B):c.242C>A (p.Pro81Gln)	GGT1, LRRC75B (P81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353882	NM_207644.3(LRRC75B):c.235C>G (p.Leu79Val)	GGT1, LRRC75B (L79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533983	NM_207644.3(LRRC75B):c.232T>A (p.Phe78Ile)	GGT1, LRRC75B (F78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120951	NM_207644.3(LRRC75B):c.142G>C (p.Glu48Gln)	GGT1, LRRC75B (E48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120950	NM_207644.3(LRRC75B):c.142G>A (p.Glu48Lys)	GGT1, LRRC75B (E48K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120949	NM_207644.3(LRRC75B):c.109G>A (p.Glu37Lys)	GGT1, LRRC75B (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289799	NM_207644.3(LRRC75B):c.106C>T (p.Arg36Cys)	GGT1, LRRC75B (R36C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120960	NM_207644.3(LRRC75B):c.94G>T (p.Val32Leu)	GGT1, LRRC75B (V32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479948	NM_207644.3(LRRC75B):c.85G>A (p.Glu29Lys)	GGT1, LRRC75B (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306696	NM_207644.3(LRRC75B):c.37G>A (p.Ala13Thr)	GGT1, LRRC75B (A13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1239221	NM_001288833.2(GGT1):c.-7-126T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2324927	NM_001288833.2(GGT1):c.15A>T (p.Leu5Phe)	GGT1 (L5F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1248239	NM_001288833.2(GGT1):c.84A>G (p.Ser28=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2239529	NM_001288833.2(GGT1):c.86C>T (p.Ala29Val)	GGT1 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029303	NM_001288833.2(GGT1):c.127G>A (p.Val43Met)	GGT1 (V43M)	Single nucleotide variant (missense variant)	gamma-Glutamyltransferase deficiency	GUncertain significance
Select item 2593475	NM_001288833.2(GGT1):c.133G>A (p.Ala45Thr)	GGT1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672900	NM_001288833.2(GGT1):c.154A>G (p.Lys52Glu)	GGT1 (K52E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1238718	NM_001288833.2(GGT1):c.164+139A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294465	NM_001288833.2(GGT1):c.165-145del	GGT1	Deletion (intron variant)	not provided	GBenign
Select item 1244940	NM_001288833.2(GGT1):c.168T>C (p.Asp56=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378527	NM_001288833.2(GGT1):c.185G>C (p.Gly62Ala)	GGT1 (G62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323876	NM_001288833.2(GGT1):c.191C>T (p.Ala64Val)	GGT1 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226346	NM_001288833.2(GGT1):c.295+12G>A	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273127	NM_001288833.2(GGT1):c.296-67G>A	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289175	NM_001288833.2(GGT1):c.296-65T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246179	NM_001288833.2(GGT1):c.296-41G>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483677	NM_001288833.2(GGT1):c.325G>T (p.Val109Leu)	GGT1 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271872	NM_001288833.2(GGT1):c.382+15A>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273914	NM_001288833.2(GGT1):c.382+175T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236112	NM_001288833.2(GGT1):c.382+226T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290240	NM_001288833.2(GGT1):c.382+238A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290063	NM_001288833.2(GGT1):c.383-254A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230205	NM_001288833.2(GGT1):c.383-89A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183246	NM_001288833.2(GGT1):c.383-88T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252200	NM_001288833.2(GGT1):c.399G>A (p.Ala133=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722638	NM_001288833.2(GGT1):c.456C>T (p.Pro152=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1294454	NM_001288833.2(GGT1):c.530C>T (p.Ala177Val)	GGT1 (A177V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3099634	NM_001288833.2(GGT1):c.545G>A (p.Arg182Gln)	GGT1 (R182Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496516	NM_001288833.2(GGT1):c.545G>C (p.Arg182Pro)	GGT1 (R182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724073	NM_001288833.2(GGT1):c.549C>T (p.Thr183=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1263073	NM_001288833.2(GGT1):c.576-143A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2473376	NM_001288833.2(GGT1):c.656C>T (p.Thr219Met)	GGT1 (T219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759042	NM_001288833.2(GGT1):c.699C>T (p.Leu233=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785682	NM_001288833.2(GGT1):c.702G>A (p.Thr234=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618095	NM_001288833.2(GGT1):c.721A>G (p.Ile241Val)	GGT1 (I241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099635	NM_001288833.2(GGT1):c.728C>T (p.Ala243Val)	GGT1 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099636	NM_001288833.2(GGT1):c.770G>A (p.Arg257His)	GGT1 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254423	NM_001288833.2(GGT1):c.782T>C (p.Ile261Thr)	GGT1 (I261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262267	NM_001288833.2(GGT1):c.815T>C (p.Val272Ala)	GGT1 (V272A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 757331	NM_001288833.2(GGT1):c.852C>T (p.Pro284=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1274246	NM_001288833.2(GGT1):c.883+144T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258797	NM_001288833.2(GGT1):c.883+175C>T	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733445	NM_001288833.2(GGT1):c.898C>T (p.Arg300Trp)	GGT1 (R300W)	Single nucleotide variant (missense variant)	not provided	GLikely benign

<< First< Prev

Page of 2