2729[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 170

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1225691	NM_001498.4(GCLC):c.*59AGCC[1]	GCLC, GCLC-AS1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1934431	NM_001498.4(GCLC):c.1909A>G (p.Asn637Asp)	GCLC, GCLC-AS1 (N637D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663934	NM_001498.4(GCLC):c.1907C>G (p.Ser636Cys)	GCLC, GCLC-AS1 (S598C +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 1916326	NM_001498.4(GCLC):c.1874A>G (p.Lys625Arg)	GCLC, GCLC-AS1 (K587R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2280048	NM_001498.4(GCLC):c.1864G>T (p.Ala622Ser)	GCLC, GCLC-AS1 (A622S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075036	NM_001498.4(GCLC):c.1818C>T (p.Asn606=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3390083	NM_001498.4(GCLC):c.1791G>A (p.Met597Ile)	GCLC-AS1, GCLC (M559I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2594446	NM_001498.4(GCLC):c.1791G>T (p.Met597Ile)	GCLC, GCLC-AS1 (M559I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993395	NM_001498.4(GCLC):c.1787A>C (p.Glu596Ala)	GCLC, GCLC-AS1 (E558A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689121	NM_001498.4(GCLC):c.1743C>G (p.Ile581Met)	GCLC, GCLC-AS1 (I543M +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 788729	NM_001498.4(GCLC):c.1743C>T (p.Ile581=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057703	NM_001498.4(GCLC):c.1735G>A (p.Glu579Lys)	GCLC, GCLC-AS1 (E541K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330719	NM_001498.4(GCLC):c.1703-8G>A	GCLC-AS1, GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811041	NM_001498.4(GCLC):c.1703-11C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995642	NM_001498.4(GCLC):c.1703-19G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278849	NM_001498.4(GCLC):c.1703-45del	GCLC, GCLC-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1278938	NM_001498.4(GCLC):c.1703-183C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2013661	NM_001498.4(GCLC):c.1702+15T>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708048	NM_001498.4(GCLC):c.1702+10C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 995605	NM_001498.4(GCLC):c.1632C>T (p.Asn544=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2673063	NM_001498.4(GCLC):c.1608A>T (p.Pro536=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913988	NM_001498.4(GCLC):c.1582-14C>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229628	NM_001498.4(GCLC):c.1581+26C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1951629	NM_001498.4(GCLC):c.1581+19A>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921192	NM_001498.4(GCLC):c.1581+8G>A	GCLC-AS1, GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969299	NM_001498.4(GCLC):c.1575T>C (p.Asn525=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708373	NM_001498.4(GCLC):c.1563C>T (p.Asp521=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2689123	NM_001498.4(GCLC):c.1538A>T (p.Glu513Val)	GCLC, GCLC-AS1 (E475V +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2069479	NM_001498.4(GCLC):c.1531G>A (p.Ala511Thr)	GCLC-AS1, GCLC (A511T +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	GUncertain significance
Select item 732959	NM_001498.4(GCLC):c.1524G>A (p.Thr508=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2428512	NM_001498.4(GCLC):c.1523C>T (p.Thr508Met)	GCLC, GCLC-AS1 (T470M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896667	NM_001498.4(GCLC):c.1520G>T (p.Ser507Ile)	GCLC, GCLC-AS1 (S469I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760693	NM_001498.4(GCLC):c.1506C>T (p.Gly502=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993959	NM_001498.4(GCLC):c.1505G>T (p.Gly502Val)	GCLC, GCLC-AS1 (G464V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448042	NM_001498.4(GCLC):c.1499G>A (p.Gly500Asp)	GCLC, GCLC-AS1 (G500D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861011	NM_001498.4(GCLC):c.1494G>A (p.Val498=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330870	NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)	GCLC, GCLC-AS1 (A458S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3250577	NM_001498.4(GCLC):c.1484A>G (p.Asn495Ser)	GCLC, GCLC-AS1 (N457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432090	NM_001498.4(GCLC):c.1478-3C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 790349	NM_001498.4(GCLC):c.1478-6C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1330938	NM_001498.4(GCLC):c.1478-16C>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1560784	NM_001498.4(GCLC):c.1477+10T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084290	NM_001498.4(GCLC):c.1427G>T (p.Arg476Ile)	GCLC, GCLC-AS1 (R438I +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +2 more	GUncertain significance
Select item 2702678	NM_001498.4(GCLC):c.1396-6C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835650	NM_001498.4(GCLC):c.1396-8T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038753	NM_001498.4(GCLC):c.1396-17T>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246572	NM_001498.4(GCLC):c.1396-63G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267804	NM_001498.4(GCLC):c.1395+176C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289924	NM_001498.4(GCLC):c.1395+83A>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981846	NM_001498.4(GCLC):c.1395+20T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948333	NM_001498.4(GCLC):c.1395+15C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920915	NM_001498.4(GCLC):c.1395+7A>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 618661	NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)	GCLC, GCLC-AS1 (P462S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1701505	NM_001498.4(GCLC):c.1303_1311delinsCCTAGAC (p.Asp435fs)	GCLC, GCLC-AS1 (D397fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1646527	NM_001498.4(GCLC):c.1291-16G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235148	NM_001498.4(GCLC):c.1291-101G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2432086	NM_001498.4(GCLC):c.1280G>C (p.Arg427Pro)	GCLC-AS1, GCLC (R389P +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2689122	NM_001498.4(GCLC):c.1267A>G (p.Arg423Gly)	GCLC, GCLC-AS1 (R385G +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2956719	NM_001498.4(GCLC):c.1198-8T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251336	NM_001498.4(GCLC):c.1198-59T>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222945	NM_001498.4(GCLC):c.1197+251T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1978414	NM_001498.4(GCLC):c.1197+5C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2841393	NM_001498.4(GCLC):c.1143A>C (p.Thr381=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581202	NM_001498.4(GCLC):c.1140G>A (p.Leu380=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920974	NM_001498.4(GCLC):c.1111G>A (p.Val371Ile)	GCLC (V371I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3958	NM_001498.4(GCLC):c.1109A>T (p.His370Leu)	GCLC (H370L +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GPathogenic
Select item 2432087	NM_001498.4(GCLC):c.1106A>G (p.Gln369Arg)	GCLC (Q331R +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 993747	NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly)	GCLC (D326G +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1261932	NM_001498.4(GCLC):c.1084+133A>G	GCLC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2847191	NM_001498.4(GCLC):c.1084+16A>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689118	NM_001498.4(GCLC):c.1066G>A (p.Glu356Lys)	GCLC (E318K +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 3519381	NM_001498.4(GCLC):c.1054A>G (p.Lys352Glu)	GCLC (K352E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046265	NM_001498.4(GCLC):c.1051G>C (p.Asp351His)	GCLC (D313H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486669	NM_001498.4(GCLC):c.1049T>C (p.Ile350Thr)	GCLC (I350T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2597128	NM_001498.4(GCLC):c.1048A>G (p.Ile350Val)	GCLC (I350V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715730	NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)	GCLC (D347N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3379684	NM_001498.4(GCLC):c.1036A>G (p.Ile346Val)	GCLC (I308V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432085	NM_001498.4(GCLC):c.1004A>G (p.Tyr335Cys)	GCLC (Y297C +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 763977	NM_001498.4(GCLC):c.984A>T (p.Arg328=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1975308	NM_001498.4(GCLC):c.965A>G (p.Tyr322Cys)	GCLC (Y284C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036503	NM_001498.4(GCLC):c.948A>T (p.Pro316=)	GCLC	Single nucleotide variant (synonymous variant)	GCLC-related disorder	GLikely benign
Select item 1595187	NM_001498.4(GCLC):c.948A>G (p.Pro316=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967604	NM_001498.4(GCLC):c.946-15A>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294102	NM_001498.4(GCLC):c.945+288T>C	GCLC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238919	NM_001498.4(GCLC):c.945+196C>G	GCLC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2689119	NM_001498.4(GCLC):c.935G>A (p.Arg312Gln)	GCLC (R274Q +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	GUncertain significance
Select item 2067484	NM_001498.4(GCLC):c.892G>A (p.Gly298Arg)	GCLC (G260R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 793593	NM_001498.4(GCLC):c.888C>T (p.Arg296=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903815	NM_001498.4(GCLC):c.866A>G (p.Tyr289Cys)	GCLC (Y251C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389589	NM_001498.4(GCLC):c.860G>A (p.Arg287Gln)	GCLC (R249Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727095	NM_001498.4(GCLC):c.852C>G (p.Pro284=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927418	NM_001498.4(GCLC):c.829-14_829-13dup	GCLC	Duplication (intron variant)	not provided	GLikely benign
Select item 1251214	NM_001498.4(GCLC):c.829-116_829-115insGGTGGA	GCLC	Insertion (intron variant)	not provided	GBenign
Select item 1286757	NM_001498.4(GCLC):c.828+203G>A	GCLC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2747795	NM_001498.4(GCLC):c.828+14dup	GCLC	Duplication (intron variant)	not provided	GLikely benign
Select item 1330891	NM_001498.4(GCLC):c.828+13T>C	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2