GGT5[gene] - ClinVar - NCBI

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	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 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 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 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	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 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
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 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	IGLV3-22, IGLV3-25 +160 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 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
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 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 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 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 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 2618146	NM_004121.5(GGT5):c.1748C>T (p.Ala583Val)	GGT5 (A507V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515535	NM_004121.5(GGT5):c.1720G>A (p.Val574Ile)	GGT5 (V498I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281327	NM_004121.5(GGT5):c.1690G>A (p.Val564Met)	GGT5 (V565M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521582	NM_004121.5(GGT5):c.1666T>G (p.Phe556Val)	GGT5 (F556V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569441	NM_004121.5(GGT5):c.1604A>G (p.Asn535Ser)	GGT5 (N459S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608824	NM_004121.5(GGT5):c.1578C>G (p.Ser526Arg)	GGT5 (S526R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610761	NM_004121.5(GGT5):c.1555G>A (p.Ala519Thr)	GGT5 (A487T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478043	NM_004121.5(GGT5):c.1541G>A (p.Arg514Lys)	GGT5 (R515K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318884	NM_004121.5(GGT5):c.1504G>A (p.Ala502Thr)	GGT5 (A502T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217328	NM_004121.5(GGT5):c.1402C>T (p.Pro468Ser)	GGT5 (P392S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393882	NM_004121.5(GGT5):c.1397G>A (p.Arg466His)	GGT5 (R434H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652987	NM_004121.5(GGT5):c.1352T>G (p.Val451Gly)	GGT5 (V375G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3281322	NM_004121.5(GGT5):c.1318G>A (p.Gly440Ser)	GGT5 (G440S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710165	NM_004121.5(GGT5):c.1310G>A (p.Arg437Gln)	GGT5 (R405Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3281325	NM_004121.5(GGT5):c.1298A>C (p.Glu433Ala)	GGT5 (E433A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601517	NM_004121.5(GGT5):c.1297G>A (p.Glu433Lys)	GGT5 (E356K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099641	NM_004121.5(GGT5):c.1264A>G (p.Ile422Val)	GGT5 (I422V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531581	NM_004121.5(GGT5):c.1202T>G (p.Val401Gly)	GGT5 (V369G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652988	NM_004121.5(GGT5):c.1164G>A (p.Thr388=)	GGT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2462470	NM_004121.5(GGT5):c.1163C>T (p.Thr388Met)	GGT5 (T356M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290719	NM_004121.5(GGT5):c.1152C>G (p.His384Gln)	GGT5 (H352Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777672	NM_004121.5(GGT5):c.1149C>T (p.Gly383=)	GGT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3099639	NM_004121.5(GGT5):c.1138G>A (p.Glu380Lys)	GGT5 (E303K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099638	NM_004121.5(GGT5):c.1096G>A (p.Asp366Asn)	GGT5 (D289N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333572	NM_004121.5(GGT5):c.1085G>T (p.Arg362Leu)	GGT5 (R330L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226444	NM_004121.5(GGT5):c.1085G>A (p.Arg362His)	GGT5 (R285H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3099637	NM_004121.5(GGT5):c.1048C>T (p.Arg350Trp)	GGT5 (R350W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239277	NM_004121.5(GGT5):c.1005G>T (p.Arg335Ser)	GGT5 (R258S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270654	NM_004121.5(GGT5):c.1004G>A (p.Arg335Lys)	GGT5 (R303K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307338	NM_004121.5(GGT5):c.992G>C (p.Gly331Ala)	GGT5 (G299A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281324	NM_004121.5(GGT5):c.960C>A (p.His320Gln)	GGT5 (H243Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281326	NM_004121.5(GGT5):c.951C>A (p.Asn317Lys)	GGT5 (N240K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369685	NM_004121.5(GGT5):c.851C>T (p.Pro284Leu)	GGT5 (P284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599754	NM_004121.5(GGT5):c.796G>A (p.Glu266Lys)	GGT5 (E189K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462818	NM_004121.5(GGT5):c.767C>T (p.Thr256Met)	GGT5 (T224M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099649	NM_004121.5(GGT5):c.721G>T (p.Gly241Cys)	GGT5 (G164C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722446	NM_004121.5(GGT5):c.711G>A (p.Thr237=)	GGT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390679	NM_004121.5(GGT5):c.697G>A (p.Glu233Lys)	GGT5 (E201K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320030	NM_004121.5(GGT5):c.673G>A (p.Glu225Lys)	GGT5 (E225K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317889	NM_004121.5(GGT5):c.622C>A (p.Pro208Thr)	GGT5 (P131T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512262	NM_004121.5(GGT5):c.612C>A (p.Asn204Lys)	GGT5 (N127K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610079	NM_004121.5(GGT5):c.606C>G (p.Phe202Leu)	GGT5 (F125L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363531	NM_004121.5(GGT5):c.595C>T (p.Arg199Cys)	GGT5 (R199C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509385	NM_004121.5(GGT5):c.568C>T (p.Arg190Trp)	GGT5 (A114V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603157	NM_004121.5(GGT5):c.530C>A (p.Ala177Asp)	GGT5 (A177D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099646	NM_004121.5(GGT5):c.475T>A (p.Trp159Arg)	GGT5 (W159R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099645	NM_004121.5(GGT5):c.467G>A (p.Arg156His)	GGT5 (R156H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544844	NM_004121.5(GGT5):c.466C>T (p.Arg156Cys)	GGT5 (R124C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312768	NM_004121.5(GGT5):c.458G>A (p.Arg153His)	GGT5 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531473	NM_004121.5(GGT5):c.454C>G (p.Arg152Gly)	GGT5 (P76R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407580	NM_004121.5(GGT5):c.445G>A (p.Glu149Lys)	GGT5 (E117K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715751	NM_004121.5(GGT5):c.400+5C>A	GGT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3099644	NM_004121.5(GGT5):c.377C>T (p.Ala126Val)	GGT5 (A126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281323	NM_004121.5(GGT5):c.329G>A (p.Arg110Gln)	GGT5 (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603777	NM_004121.5(GGT5):c.257T>C (p.Met86Thr)	GGT5 (M86T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518308	NM_004121.5(GGT5):c.241G>A (p.Val81Ile)	GGT5 (V81I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607021	NM_004121.5(GGT5):c.235A>G (p.Ser79Gly)	GGT5 (S79G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513419	NM_004121.5(GGT5):c.220G>A (p.Ala74Thr)	GGT5 (A74T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288869	NM_004121.5(GGT5):c.218C>T (p.Ala73Val)	GGT5 (A73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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