ClinVar for Gene (Select 2686) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281337	NM_178026.3(GGT7):c.603C>A (p.His201Gln)	GGT7 (H201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281336	NM_178026.3(GGT7):c.381G>A (p.Met127Ile)	GGT7 (M127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281335	NM_178026.3(GGT7):c.1195G>A (p.Val399Ile)	GGT7 (V399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281334	NM_178026.3(GGT7):c.565G>T (p.Val189Leu)	GGT7 (V189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3099676	NM_178026.3(GGT7):c.995C>T (p.Thr332Ile)	GGT7 (T332I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099675	NM_178026.3(GGT7):c.965C>T (p.Pro322Leu)	GGT7 (P322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099674	NM_178026.3(GGT7):c.228G>C (p.Glu76Asp)	GGT7 (E76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099673	NM_178026.3(GGT7):c.1928A>G (p.Asn643Ser)	GGT7 (N643S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099672	NM_178026.3(GGT7):c.1915C>G (p.Arg639Gly)	GGT7 (R639G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099671	NM_178026.3(GGT7):c.1904T>C (p.Val635Ala)	GGT7 (V635A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099670	NM_178026.3(GGT7):c.1867G>A (p.Gly623Ser)	GGT7 (G623S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3099669	NM_178026.3(GGT7):c.1754G>A (p.Arg585Gln)	GGT7 (R585Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099668	NM_178026.3(GGT7):c.16G>C (p.Glu6Gln)	GGT7, LOC130065735 (E6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099667	NM_178026.3(GGT7):c.1685G>C (p.Gly562Ala)	GGT7 (G562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099666	NM_178026.3(GGT7):c.1646G>A (p.Arg549Gln)	GGT7 (R549Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099665	NM_178026.3(GGT7):c.1558C>T (p.Arg520Trp)	GGT7 (R520W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099664	NM_178026.3(GGT7):c.1454T>C (p.Ile485Thr)	GGT7 (I485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099663	NM_178026.3(GGT7):c.139G>A (p.Glu47Lys)	GGT7 (E47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099662	NM_178026.3(GGT7):c.1202G>A (p.Arg401Gln)	GGT7 (R401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618850	NM_178026.3(GGT7):c.266G>A (p.Arg89His)	GGT7 (R89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613469	NM_178026.3(GGT7):c.635C>A (p.Ala212Asp)	GGT7 (A212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588127	NM_178026.3(GGT7):c.1073T>C (p.Val358Ala)	GGT7 (V358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555098	NM_178026.3(GGT7):c.1093G>A (p.Val365Met)	GGT7 (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525137	NM_178026.3(GGT7):c.908C>T (p.Ser303Leu)	GGT7 (S303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467719	NM_178026.3(GGT7):c.1280A>C (p.Tyr427Ser)	GGT7 (Y427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397959	NM_178026.3(GGT7):c.1652C>T (p.Ala551Val)	GGT7 (A551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395245	NM_178026.3(GGT7):c.1276G>A (p.Val426Ile)	GGT7 (V426I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394877	NM_178026.3(GGT7):c.280T>G (p.Ser94Ala)	GGT7 (S94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394246	NM_178026.3(GGT7):c.1414A>G (p.Thr472Ala)	GGT7 (T472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364159	NM_178026.3(GGT7):c.1678G>A (p.Ala560Thr)	GGT7 (A560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330507	NM_178026.3(GGT7):c.490G>A (p.Val164Met)	GGT7 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330275	NM_178026.3(GGT7):c.1679C>G (p.Ala560Gly)	GGT7 (A560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324042	NM_178026.3(GGT7):c.437C>G (p.Ala146Gly)	GGT7 (A146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324041	NM_178026.3(GGT7):c.436G>A (p.Ala146Thr)	GGT7 (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320111	NM_178026.3(GGT7):c.590G>A (p.Arg197Gln)	GGT7 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319584	NM_178026.3(GGT7):c.145G>A (p.Ala49Thr)	GGT7 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293231	NM_178026.3(GGT7):c.1100G>A (p.Arg367Lys)	GGT7 (R367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283284	NM_178026.3(GGT7):c.1225G>A (p.Ala409Thr)	GGT7 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279914	NM_178026.3(GGT7):c.1687G>A (p.Ala563Thr)	GGT7 (A563T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268851	NM_178026.3(GGT7):c.856G>A (p.Glu286Lys)	GGT7 (E286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226666	NM_178026.3(GGT7):c.1120C>A (p.Pro374Thr)	GGT7 (P374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226331	NM_178026.3(GGT7):c.1714G>A (p.Gly572Ser)	GGT7 (G572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 150003	GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3	ACSS2, GGT7 +10 more	Copy number gain	See cases	GLikely benign
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57