4624[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 405

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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
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 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	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 338287	NM_000178.4(GSS):c.*391A>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 338288	NM_000178.4(GSS):c.*390G>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 895319	NM_000178.4(GSS):c.*323G>A	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 895320	NM_000178.4(GSS):c.*185C>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 895321	NM_000178.4(GSS):c.*183C>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 338289	NM_000178.4(GSS):c.*181C>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 338290	NM_000178.4(GSS):c.*90A>G	GSS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 338291	NM_000178.4(GSS):c.*69G>T	GSS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 895322	NM_000178.4(GSS):c.*68G>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 895323	NM_000178.4(GSS):c.*31C>T	GSS	Single nucleotide variant (3 prime UTR variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 896741	NM_000178.4(GSS):c.*20G>C	GSS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338292	NM_000178.4(GSS):c.*2G>A	GSS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1141512	NM_000178.4(GSS):c.1422G>T (p.Val474=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1163158	NM_000178.4(GSS):c.1407C>A (p.Asp469Glu)	GSS (D469E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2860594	NM_000178.4(GSS):c.1389G>A (p.Ala463=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 235504	NM_000178.4(GSS):c.1388C>T (p.Ala463Val)	GSS (A463V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018166	NM_000178.4(GSS):c.1374T>C (p.Asp458=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2689179	NM_000178.4(GSS):c.1373A>G (p.Asp458Gly)	GSS (D458G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518006	NM_000178.4(GSS):c.1362C>T (p.Ile454=)	GSS	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2893658	NM_000178.4(GSS):c.1353C>G (p.Thr451=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2767899	NM_000178.4(GSS):c.1344A>T (p.Leu448=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2432330	NM_000178.4(GSS):c.1340A>G (p.His447Arg)	GSS (H447R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174778	NM_000178.4(GSS):c.1333G>A (p.Val445Met)	GSS (V445M)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 2561075	NM_000178.4(GSS):c.1332C>T (p.His444=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency +2 more	GLikely benign
Select item 3005468	NM_000178.4(GSS):c.1329G>A (p.Lys443=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1415236	NM_000178.4(GSS):c.1318G>A (p.Val440Met)	GSS (V440M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2730317	NM_000178.4(GSS):c.1317C>T (p.Leu439=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1469475	NM_000178.4(GSS):c.1316T>G (p.Leu439Arg)	GSS (L439R)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 2547593	NM_000178.4(GSS):c.1312A>G (p.Thr438Ala)	GSS (T438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683539	NM_000178.4(GSS):c.1310dup (p.Thr438fs)	GSS (T438fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1004243	NM_000178.4(GSS):c.1311G>C (p.Lys437Asn)	GSS (K437N)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 1027232	NM_000178.4(GSS):c.1309_1310del (p.Lys437fs)	GSS (K437fs)	Deletion (frameshift variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 2758221	NM_000178.4(GSS):c.1305G>A (p.Gln435=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1691073	NM_000178.4(GSS):c.1302-1G>A	GSS	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 388152	NM_000178.4(GSS):c.1302-3T>C	GSS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2860401	NM_000178.4(GSS):c.1302-11C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2872339	NM_000178.4(GSS):c.1302-14C>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2749069	NM_000178.4(GSS):c.1302-15C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2787822	NM_000178.4(GSS):c.1302-16G>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2770239	NM_000178.4(GSS):c.1302-16G>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2807188	NM_000178.4(GSS):c.1302-18C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1247699	NM_000178.4(GSS):c.1301+193C>A	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232487	NM_000178.4(GSS):c.1301+190T>C	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2737114	NM_000178.4(GSS):c.1301+15A>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 680913	NM_000178.4(GSS):c.1301+14G>C	GSS	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1549413	NM_000178.4(GSS):c.1301+13G>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2714877	NM_000178.4(GSS):c.1301+5G>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 1493565	NM_000178.4(GSS):c.1295_1296del (p.Tyr432fs)	GSS (Y432fs)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 2832091	NM_000178.4(GSS):c.1281C>T (p.Gly427=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2886987	NM_000178.4(GSS):c.1276C>T (p.Leu426=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2866595	NM_000178.4(GSS):c.1272A>G (p.Ser424=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1925020	NM_000178.4(GSS):c.1260C>T (p.Val420=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 338293	NM_000178.4(GSS):c.1260C>G (p.Val420=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GConflicting classifications of pathogenicity
Select item 338294	NM_000178.4(GSS):c.1253G>A (p.Arg418Gln)	GSS (R418Q)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2792734	NM_000178.4(GSS):c.1252C>A (p.Arg418=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2736961	NM_000178.4(GSS):c.1252C>T (p.Arg418Ter)	GSS (R418*)	Single nucleotide variant (nonsense)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 1383741	NM_000178.4(GSS):c.1247C>T (p.Pro416Leu)	GSS (P416L)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 3102939	NM_000178.4(GSS):c.1246C>A (p.Pro416Thr)	GSS (P416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1578408	NM_000178.4(GSS):c.1239T>C (p.Pro413=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2235378	NM_000178.4(GSS):c.1237C>T (p.Pro413Ser)	GSS (P413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2777545	NM_000178.4(GSS):c.1234C>A (p.Arg412=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1498729	NM_000178.4(GSS):c.1234C>T (p.Arg412Trp)	GSS (R412W)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency +1 more	GUncertain significance
Select item 2830322	NM_000178.4(GSS):c.1206A>G (p.Glu402=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2432331	NM_000178.4(GSS):c.1205A>G (p.Glu402Gly)	GSS (E402G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726640	NM_000178.4(GSS):c.1203C>A (p.Ile401=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 338295	NM_000178.4(GSS):c.1203C>T (p.Ile401=)	GSS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2429135	NM_000178.4(GSS):c.1192dup (p.Met398fs)	GSS (M398fs)	Duplication (frameshift variant)	Inherited glutathione synthetase deficiency	GLikely pathogenic
Select item 1939712	NM_000178.4(GSS):c.1188C>G (p.Ile396Met)	GSS (I396M)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 338296	NM_000178.4(GSS):c.1186A>G (p.Ile396Val)	GSS (I396V)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 2964800	NM_000178.4(GSS):c.1182C>T (p.Ser394=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2884912	NM_000178.4(GSS):c.1167T>C (p.Ser389=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 424539	NM_000178.4(GSS):c.1159A>C (p.Lys387Gln)	GSS (K387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338297	NM_000178.4(GSS):c.1158G>A (p.Leu386=)	GSS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2840754	NM_000178.4(GSS):c.1156C>T (p.Leu386=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2432328	NM_000178.4(GSS):c.1154A>G (p.Gln385Arg)	GSS (Q385R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163159	NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del)	GSS	Deletion (inframe_deletion)	Inherited glutathione synthetase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1730096	NM_000178.4(GSS):c.1137G>A (p.Met379Ile)	GSS (M379I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2705603	NM_000178.4(GSS):c.1134A>G (p.Glu378=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1677096	NM_000178.3(GSS):c.1113_1132del20	GSS	Deletion	Inherited glutathione synthetase deficiency	GLikely pathogenic
Select item 896742	NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)	GSS (G376R)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GConflicting classifications of pathogenicity
Select item 2823959	NM_000178.4(GSS):c.1122A>G (p.Leu374=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 897214	NM_000178.4(GSS):c.1121T>G (p.Leu374Arg)	GSS (L374R)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 2847737	NM_000178.4(GSS):c.1120C>T (p.Leu374=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1949931	NM_000178.4(GSS):c.1118A>G (p.Asn373Ser)	GSS (N373S)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GUncertain significance
Select item 2980174	NM_000178.4(GSS):c.1112-4G>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2838108	NM_000178.4(GSS):c.1112-18T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2792130	NM_000178.4(GSS):c.1112-18T>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 1237669	NM_000178.4(GSS):c.1112-223_1112-221del	GSS	Microsatellite (intron variant)	not provided	GBenign
Select item 2834539	NM_000178.4(GSS):c.1111+16T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2827337	NM_000178.4(GSS):c.1111+14C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3020314	NM_000178.4(GSS):c.1111+8G>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2714497	NM_000178.4(GSS):c.1103_1104del (p.Glu368fs)	GSS (E368fs)	Microsatellite (frameshift variant)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 2816205	NM_000178.4(GSS):c.1095C>T (p.Pro365=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2766506	NM_000178.4(GSS):c.1080G>A (p.Arg360=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2319955	NM_000178.4(GSS):c.1078C>T (p.Arg360Trp)	GSS (R360W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 5