6566[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 324

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	TAFA3, WNT2B +61 more	Copy number gain	See cases	GUncertain significance
Select item 146756	GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3	CAPZA1, LINC01356 +27 more	Copy number gain	See cases	GLikely benign
Select item 57014	GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3	LINC01356, LINC01357 +32 more	Copy number gain	See cases	GUncertain significance
Select item 549573	NC_000001.11:g.112796384_112887499dup	CAPZA1, LINC01356 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 291827	NM_003051.4(SLC16A1):c.*1942T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291828	NM_003051.4(SLC16A1):c.*1876G>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291829	NM_003051.4(SLC16A1):c.*1801A>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875888	NM_003051.4(SLC16A1):c.*1654A>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291830	NM_003051.4(SLC16A1):c.*1624A>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291831	NM_003051.4(SLC16A1):c.*1414C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291832	NM_003051.4(SLC16A1):c.*1312G>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291833	NM_003051.4(SLC16A1):c.*1281T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 876883	NM_003051.4(SLC16A1):c.*1134G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291834	NM_003051.4(SLC16A1):c.*1085dup	SLC16A1	Duplication (3 prime UTR variant)	Hyperinsulinism, Dominant +1 more	GUncertain significance
Select item 291835	NM_003051.4(SLC16A1):c.*1085del	SLC16A1	Deletion (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291836	NM_003051.4(SLC16A1):c.*1072G>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 876884	NM_003051.4(SLC16A1):c.*1071T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291837	NM_003051.4(SLC16A1):c.*1064G>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291838	NM_003051.4(SLC16A1):c.*1051G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 876885	NM_003051.4(SLC16A1):c.*1044T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291839	NM_003051.4(SLC16A1):c.*1018T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291840	NM_003051.4(SLC16A1):c.*969dup	SLC16A1	Duplication (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291841	NM_003051.4(SLC16A1):c.*948G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874081	NM_003051.4(SLC16A1):c.*946G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291842	NM_003051.4(SLC16A1):c.*815G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874082	NM_003051.4(SLC16A1):c.*739T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291843	NM_003051.4(SLC16A1):c.*739T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874083	NM_003051.4(SLC16A1):c.*657C>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291844	NM_003051.4(SLC16A1):c.*629C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291845	NM_003051.4(SLC16A1):c.*603T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291846	NM_003051.4(SLC16A1):c.*516C>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875013	NM_003051.4(SLC16A1):c.*361G>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875014	NM_003051.4(SLC16A1):c.*332T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291847	NM_003051.4(SLC16A1):c.*145T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875015	NM_003051.4(SLC16A1):c.*137A>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291848	NM_003051.4(SLC16A1):c.135_136insTTT	SLC16A1	Insertion (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291849	NM_003051.4(SLC16A1):c.*104C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291850	NM_003051.4(SLC16A1):c.*77C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1953005	NM_003051.4(SLC16A1):c.1488G>A (p.Glu496=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986395	NM_003051.4(SLC16A1):c.1476G>A (p.Gly492=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130315	NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)	SLC16A1 (D490E)	Single nucleotide variant (missense variant)	Metabolic myopathy due to lactate transporter defect +4 more	GBenign
Select item 3017221	NM_003051.4(SLC16A1):c.1453G>A (p.Asp485Asn)	SLC16A1 (D485N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087117	NM_003051.4(SLC16A1):c.1453G>T (p.Asp485Tyr)	SLC16A1 (D485Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291851	NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=)	SLC16A1	Single nucleotide variant (synonymous variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 2191901	NM_003051.4(SLC16A1):c.1451C>T (p.Pro484Leu)	SLC16A1 (P484L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698170	NM_003051.4(SLC16A1):c.1447T>A (p.Ser483Thr)	SLC16A1 (S483T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291852	NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)	SLC16A1 (V477A)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 2038400	NM_003051.4(SLC16A1):c.1429G>C (p.Val477Leu)	SLC16A1 (V477L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012340	NM_003051.4(SLC16A1):c.1425T>C (p.Asn475=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156624	NM_003051.4(SLC16A1):c.1421C>A (p.Pro474Gln)	SLC16A1 (P474Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8915	NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)	SLC16A1 (G472R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2992764	NM_003051.4(SLC16A1):c.1412C>G (p.Ala471Gly)	SLC16A1 (A471G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181035	NM_003051.4(SLC16A1):c.1397C>A (p.Thr466Asn)	SLC16A1 (T466N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962832	NM_003051.4(SLC16A1):c.1384A>G (p.Lys462Glu)	SLC16A1 (K462E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302352	NM_003051.4(SLC16A1):c.1369C>T (p.Gln457Ter)	SLC16A1 (Q457*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 875941	NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)	SLC16A1 (E456V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2972559	NM_003051.4(SLC16A1):c.1366G>C (p.Glu456Gln)	SLC16A1 (E456Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175509	NM_003051.4(SLC16A1):c.1365C>T (p.Asn455=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798730	NM_003051.4(SLC16A1):c.1354C>A (p.Gln452Lys)	SLC16A1 (Q452K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814240	NM_003051.4(SLC16A1):c.1346C>T (p.Ala449Val)	SLC16A1 (A449V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291853	NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr)	SLC16A1 (A449T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291854	NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2182740	NM_003051.4(SLC16A1):c.1337G>A (p.Arg446Gln)	SLC16A1 (R446Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753409	NM_003051.4(SLC16A1):c.1335T>C (p.Tyr445=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878631	NM_003051.4(SLC16A1):c.1309C>G (p.Leu437Val)	SLC16A1 (L437V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952740	NM_003051.4(SLC16A1):c.1303A>T (p.Ile435Phe)	SLC16A1 (I435F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438034	NM_003051.4(SLC16A1):c.1303A>G (p.Ile435Val)	SLC16A1 (I435V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871302	NM_003051.4(SLC16A1):c.1301G>A (p.Gly434Asp)	SLC16A1 (G434D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814125	NM_003051.4(SLC16A1):c.1300G>A (p.Gly434Ser)	SLC16A1 (G434S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3318905	NM_003051.4(SLC16A1):c.1291A>G (p.Ile431Val)	SLC16A1 (I431V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163048	NM_003051.4(SLC16A1):c.1285G>T (p.Val429Phe)	SLC16A1 (V429F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434023	NM_003051.4(SLC16A1):c.1285G>A (p.Val429Ile)	SLC16A1 (V429I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964812	NM_003051.4(SLC16A1):c.1284C>T (p.Val428=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2188819	NM_003051.4(SLC16A1):c.1283T>G (p.Val428Gly)	SLC16A1 (V428G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733619	NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)	SLC16A1 (V428I)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism +1 more	GBenign/Likely benign
Select item 876928	NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2039412	NM_003051.4(SLC16A1):c.1267T>A (p.Tyr423Asn)	SLC16A1 (Y423N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897444	NM_003051.4(SLC16A1):c.1247A>G (p.Tyr416Cys)	SLC16A1 (Y416C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997134	NM_003051.4(SLC16A1):c.1244T>C (p.Met415Thr)	SLC16A1 (M415T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436731	NM_003051.4(SLC16A1):c.1236C>T (p.Leu412=)	SLC16A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3002758	NM_003051.4(SLC16A1):c.1232G>A (p.Arg411Gln)	SLC16A1 (R411Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993046	NM_003051.4(SLC16A1):c.1231C>T (p.Arg411Trp)	SLC16A1 (R411W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824808	NM_003051.4(SLC16A1):c.1231C>A (p.Arg411=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2637017	NM_003051.4(SLC16A1):c.1229G>A (p.Gly410Asp)	SLC16A1 (G410D)	Single nucleotide variant (missense variant)	SLC16A1-related disorder	GUncertain significance
Select item 2090714	NM_003051.4(SLC16A1):c.1229-17T>G	SLC16A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941576	NM_003051.4(SLC16A1):c.1229-20G>C	SLC16A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841035	NM_003051.4(SLC16A1):c.1228+17T>G	SLC16A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899629	NM_003051.4(SLC16A1):c.1228+16C>T	SLC16A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 291858	NM_003051.4(SLC16A1):c.1228+6G>A	SLC16A1	Single nucleotide variant (intron variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 1935043	NM_003051.4(SLC16A1):c.1228+4T>C	SLC16A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2577567	NM_003051.4(SLC16A1):c.1211dup (p.Pro406fs)	SLC16A1 (P406fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1905891	NM_003051.4(SLC16A1):c.1210C>T (p.Leu404=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562991	NM_003051.4(SLC16A1):c.1167C>T (p.Ser389=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924610	NM_003051.4(SLC16A1):c.1157G>C (p.Arg386Thr)	SLC16A1 (R386T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999354	NM_003051.4(SLC16A1):c.1148G>T (p.Gly383Val)	SLC16A1 (G383V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534660	NM_003051.4(SLC16A1):c.1132T>C (p.Leu378=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 291859	NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)	SLC16A1 (V373I)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism +2 more	GUncertain significance
Select item 2638998	NM_003051.4(SLC16A1):c.1101C>T (p.Phe367=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 4