6640[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 899048	NM_003098.3(SNTA1):c.*412G>C	SNTA1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 338206	NM_003098.3(SNTA1):c.*343G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 338207	NM_003098.3(SNTA1):c.*342C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 899049	NM_003098.3(SNTA1):c.*333G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 899050	NM_003098.3(SNTA1):c.*231C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899051	NM_003098.3(SNTA1):c.*132C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 338208	NM_003098.3(SNTA1):c.*122G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 338209	NM_003098.3(SNTA1):c.*79C>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 381756	NM_003098.3(SNTA1):c.*14C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 496193	NM_003098.3(SNTA1):c.*8C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	SNTA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 338210	NM_003098.3(SNTA1):c.*6G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 2504942	NM_003098.3(SNTA1):c.1517_*2dup (p.Ter506=)	SNTA1	Duplication (no sequence alteration)	not provided +1 more	GLikely benign
Select item 577119	NM_003098.3(SNTA1):c.1518G>T (p.Ter506Tyr)	SNTA1	Single nucleotide variant (stop lost)	Long QT syndrome	GUncertain significance
Select item 840523	NM_003098.3(SNTA1):c.1505G>C (p.Gly502Ala)	SNTA1 (G502A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 190927	NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg)	SNTA1 (G502R)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GUncertain significance
Select item 1773940	NM_003098.3(SNTA1):c.1499G>A (p.Arg500His)	SNTA1 (R500H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 632993	NM_003098.3(SNTA1):c.1498del (p.Arg500fs)	SNTA1 (R500fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 191506	NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys)	SNTA1 (R500C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 378631	NM_003098.3(SNTA1):c.1488C>A (p.Ala496=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 2436218	NM_003098.3(SNTA1):c.1487C>T (p.Ala496Val)	SNTA1 (A496V)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 1000015	NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro)	SNTA1 (A496P)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GUncertain significance
Select item 1506114	NM_003098.3(SNTA1):c.1485G>A (p.Ser495=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2913646	NM_003098.3(SNTA1):c.1484C>A (p.Ser495Ter)	SNTA1 (S495* +1 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome	GUncertain significance
Select item 1385056	NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu)	SNTA1 (S495L)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +3 more	GUncertain significance
Select item 2110177	NM_003098.3(SNTA1):c.1482G>T (p.Leu494=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 390641	NM_003098.3(SNTA1):c.1480C>T (p.Leu494=)	SNTA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 338211	NM_003098.3(SNTA1):c.1479C>T (p.Phe493=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1773365	NM_003098.3(SNTA1):c.1471C>T (p.His491Tyr)	SNTA1 (H491Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1710784	NM_003098.3(SNTA1):c.1456A>G (p.Ile486Val)	SNTA1 (I486V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2562672	NM_003098.3(SNTA1):c.1450A>G (p.Lys484Glu)	SNTA1 (K484E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2164223	NM_003098.3(SNTA1):c.1443G>A (p.Ser481=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 188145	NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)	SNTA1 (S481L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 527101	NM_003098.3(SNTA1):c.1440C>T (p.His480=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 798661	NM_003098.3(SNTA1):c.1437G>A (p.Leu479=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1349611	NM_003098.3(SNTA1):c.1436T>C (p.Leu479Pro)	SNTA1 (L479P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 417156	NM_003098.3(SNTA1):c.1428G>A (p.Gln476=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2562671	NM_003098.3(SNTA1):c.1426-1G>A	SNTA1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 215503	NM_003098.3(SNTA1):c.1426-5T>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome 12 +4 more	GBenign/Likely benign
Select item 675231	NM_003098.3(SNTA1):c.1426-50G>A	SNTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516958	NM_003098.3(SNTA1):c.1425+18del	SNTA1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 3019539	NM_003098.3(SNTA1):c.1425+15G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1428754	NM_003098.3(SNTA1):c.1425+1G>T	SNTA1	Single nucleotide variant (splice donor variant)	Long QT syndrome	GUncertain significance
Select item 632994	NM_003098.3(SNTA1):c.1425+1G>A	SNTA1	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 632995	NM_003098.3(SNTA1):c.1425C>T (p.Ile475=)	SNTA1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1677746	NM_003098.3(SNTA1):c.1420G>A (p.Glu474Lys)	SNTA1 (E474K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2562675	NM_003098.3(SNTA1):c.1419C>T (p.Gly473=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2447604	NM_003098.3(SNTA1):c.1396C>T (p.Leu466=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190925	NM_003098.3(SNTA1):c.1394T>C (p.Phe465Ser)	SNTA1 (F465S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449724	NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg)	SNTA1 (L463R)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 511962	NM_003098.3(SNTA1):c.1386T>C (p.Ser462=)	SNTA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1927808	NM_003098.3(SNTA1):c.1382C>T (p.Ala461Val)	SNTA1 (A461V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1480612	NM_003098.3(SNTA1):c.1378G>A (p.Gly460Ser)	SNTA1 (G460S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 139223	NM_003098.3(SNTA1):c.1377C>T (p.Asp459=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 2625060	NM_003098.3(SNTA1):c.1361A>G (p.Gln454Arg)	SNTA1 (R465G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519398	NM_003098.3(SNTA1):c.1359G>A (p.Leu453=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770649	NM_003098.3(SNTA1):c.1353G>A (p.Glu451=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 239498	NM_003098.3(SNTA1):c.1350C>T (p.Phe450=)	SNTA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3013971	NM_003098.3(SNTA1):c.1345C>T (p.Pro449Ser)	SNTA1 (P449S)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1023617	NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln)	SNTA1 (R447Q)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 560703	NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter)	SNTA1 (R447*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 2094164	NM_003098.3(SNTA1):c.1338G>A (p.Leu446=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1770226	NM_003098.3(SNTA1):c.1335C>T (p.Leu445=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 191507	NM_003098.3(SNTA1):c.1330G>A (p.Val444Met)	SNTA1 (V444M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1061671	NM_003098.3(SNTA1):c.1325G>A (p.Arg442Gln)	SNTA1 (R442Q)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 190924	NM_003098.3(SNTA1):c.1324C>T (p.Arg442Ter)	SNTA1 (R442*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1510952	NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys)	SNTA1 (E437K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1769503	NM_003098.3(SNTA1):c.1305G>A (p.Ala435=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 840634	NM_003098.3(SNTA1):c.1304C>T (p.Ala435Val)	SNTA1 (A435V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1306697	NM_003098.3(SNTA1):c.1300_1301del (p.Trp434fs)	SNTA1 (W434fs)	Microsatellite (frameshift variant)	Long QT syndrome +1 more	GUncertain significance
Select item 190923	NM_003098.3(SNTA1):c.1300T>C (p.Trp434Arg)	SNTA1 (W434R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1768998	NM_003098.3(SNTA1):c.1287G>C (p.Lys429Asn)	SNTA1 (K429N)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1056568	NM_003098.3(SNTA1):c.1283A>G (p.Asp428Gly)	SNTA1 (D428G)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2063052	NM_003098.3(SNTA1):c.1281C>G (p.Ile427Met)	SNTA1 (I427M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1159773	NM_003098.3(SNTA1):c.1281C>T (p.Ile427=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 190922	NM_003098.3(SNTA1):c.1279A>G (p.Ile427Val)	SNTA1 (I427V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2625061	NM_003098.3(SNTA1):c.1278C>T (p.His426=)	SNTA1 (T437I)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2730541	NM_003098.3(SNTA1):c.1269G>A (p.Leu423=)	SNTA1 (C434Y)	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1762310	NM_003098.3(SNTA1):c.1258C>T (p.Pro420Ser)	SNTA1 (P420S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 190921	NM_003098.3(SNTA1):c.1256G>A (p.Arg419His)	SNTA1 (R419H)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 809246	NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys)	SNTA1 (R419C)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 706941	NM_003098.3(SNTA1):c.1245G>A (p.Thr415=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 190920	NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met)	SNTA1 (T415M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2625064	NM_003098.3(SNTA1):c.1238-1G>T	SNTA1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 844802	NM_003098.3(SNTA1):c.1238-3C>T	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2831479	NM_003098.3(SNTA1):c.1238-9dup	SNTA1	Duplication (intron variant)	Long QT syndrome	GLikely benign
Select item 190900	NM_003098.3(SNTA1):c.1238-11C>T	SNTA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 338212	NM_003098.3(SNTA1):c.1238-13G>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 896365	NM_003098.3(SNTA1):c.1238-14T>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1267991	NM_003098.3(SNTA1):c.1238-129C>T	SNTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675444	NM_003098.3(SNTA1):c.1237+158T>C	SNTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1536158	NM_003098.3(SNTA1):c.1237+20G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1061644	NM_003098.3(SNTA1):c.1237G>A (p.Ala413Thr)	SNTA1 (A413T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 519289	NM_003098.3(SNTA1):c.1230G>A (p.Val410=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190937	NM_003098.3(SNTA1):c.1225G>C (p.Glu409Gln)	SNTA1 (E409Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1751016	NM_003098.3(SNTA1):c.1213G>T (p.Glu405Ter)	SNTA1 (E405*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1128146	NM_003098.3(SNTA1):c.1212C>T (p.Ala404=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign

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