ClinVar for MedGen (Select 44193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3386962	NM_000218.3(KCNQ1):c.2027C>G (p.Ser676Cys)	KCNQ1, KCNQ1-AS1 (S180C +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386961	NM_000218.3(KCNQ1):c.2018A>T (p.Asp673Val)	KCNQ1, KCNQ1-AS1 (D177V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386960	NM_000218.3(KCNQ1):c.2017G>C (p.Asp673His)	KCNQ1, KCNQ1-AS1 (D177H +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386959	NM_000218.3(KCNQ1):c.2007G>A (p.Arg669=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3386958	NM_000218.3(KCNQ1):c.1967_1981dup (p.Pro660_Thr661insSerAsnThrLeuPro)	KCNQ1-AS1, KCNQ1	Duplication	Long QT syndrome	GUncertain significance
Select item 3386957	NM_000218.3(KCNQ1):c.1942G>T (p.Val648Phe)	KCNQ1-AS1, KCNQ1 (V152F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386956	NM_000218.3(KCNQ1):c.1909C>G (p.His637Asp)	KCNQ1-AS1, KCNQ1 (H141D +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386955	NM_000218.3(KCNQ1):c.1906G>A (p.Ala636Thr)	KCNQ1-AS1, KCNQ1 (A140T +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386953	NM_000218.3(KCNQ1):c.1877G>C (p.Gly626Ala)	KCNQ1, KCNQ1-AS1 (G130A +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386952	NM_000218.3(KCNQ1):c.1873C>G (p.Pro625Ala)	KCNQ1, KCNQ1-AS1 (P129A +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386951	NM_000218.3(KCNQ1):c.1832A>G (p.Asp611Gly)	KCNQ1-AS1, KCNQ1 (D115G +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386950	NM_000218.3(KCNQ1):c.1784_1786del (p.Val595del)	KCNQ1 (V415del +5 more)	Deletion	Long QT syndrome	GUncertain significance
Select item 3386949	NM_000218.3(KCNQ1):c.1733-11A>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386948	NM_000218.3(KCNQ1):c.1706A>G (p.Lys569Arg)	KCNQ1 (K442R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386947	NM_000218.3(KCNQ1):c.1686-14G>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386946	NM_000218.3(KCNQ1):c.1667T>A (p.Ile556Asn)	KCNQ1 (I376N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386945	NM_000218.3(KCNQ1):c.1654C>T (p.Leu552Phe)	KCNQ1 (L372F +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386944	NM_000218.3(KCNQ1):c.1556G>T (p.Arg519Leu)	KCNQ1 (R339L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386943	NM_000218.3(KCNQ1):c.1538C>T (p.Thr513Ile)	KCNQ1 (T333I +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386942	NM_000218.3(KCNQ1):c.1527C>G (p.His509Gln)	KCNQ1 (H329Q +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386941	NM_000218.3(KCNQ1):c.1449C>G (p.Asn483Lys)	KCNQ1, KCNQ1OT1 (N303K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386940	NM_000218.3(KCNQ1):c.1445C>A (p.Thr482Asn)	KCNQ1, KCNQ1OT1 (T302N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386939	NM_000218.3(KCNQ1):c.1413G>A (p.Leu471=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386938	NM_000218.3(KCNQ1):c.1390T>C (p.Ser464Pro)	KCNQ1 (S284P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386937	NM_000218.3(KCNQ1):c.1372G>C (p.Val458Leu)	KCNQ1 (V278L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386934	NM_000218.3(KCNQ1):c.1333T>A (p.Cys445Ser)	KCNQ1 (C265S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386933	NM_000218.3(KCNQ1):c.1331C>G (p.Thr444Arg)	KCNQ1 (T264R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386932	NM_000218.3(KCNQ1):c.1252-14_1252-10del	KCNQ1	Deletion (intron variant)	Long QT syndrome	GLikely benign
Select item 3386931	NM_000218.3(KCNQ1):c.1223C>T (p.Pro408Leu)	KCNQ1 (P228L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386930	NM_000218.3(KCNQ1):c.1204A>G (p.Ser402Gly)	KCNQ1 (S222G +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386929	NM_000218.3(KCNQ1):c.1196C>A (p.Ala399Asp)	KCNQ1 (A219D +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386928	NM_000218.3(KCNQ1):c.937A>G (p.Ile313Val)	KCNQ1 (I165V +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386927	NM_000218.3(KCNQ1):c.933C>T (p.Thr311=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3386926	NM_000218.3(KCNQ1):c.844C>A (p.Leu282Met)	KCNQ1 (L155M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386925	NM_000218.3(KCNQ1):c.718C>T (p.His240Tyr)	KCNQ1 (H113Y +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386924	NM_000218.3(KCNQ1):c.645G>T (p.Val215=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386923	NM_000218.3(KCNQ1):c.461G>T (p.Gly154Val)	KCNQ1 (G154V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3386922	NM_000238.4(KCNH2):c.1A>C (p.Met1Leu)	KCNH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GUncertain significance
Select item 3386921	NM_000238.4(KCNH2):c.32A>T (p.Gln11Leu)	KCNH2 (Q11L)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386920	NM_000238.4(KCNH2):c.77-3T>C	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386919	NM_000238.4(KCNH2):c.106G>A (p.Val36Met)	KCNH2 (V36M)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GUncertain significance
Select item 3386918	NM_000238.4(KCNH2):c.148G>A (p.Glu50Lys)	KCNH2 (E50K)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GUncertain significance
Select item 3386917	NM_000238.4(KCNH2):c.263G>A (p.Gly88Asp)	KCNH2 (G29D +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386916	NM_000238.4(KCNH2):c.306T>G (p.Asp102Glu)	KCNH2 (D102E +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386915	NM_000238.4(KCNH2):c.310A>G (p.Ser104Gly)	KCNH2 (S104G +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386914	NM_000238.4(KCNH2):c.320T>C (p.Leu107Pro)	KCNH2 (L107P +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386913	NM_000238.4(KCNH2):c.347A>G (p.Lys116Arg)	KCNH2 (K116R +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386912	NM_000238.4(KCNH2):c.372G>A (p.Met124Ile)	KCNH2 (M124I +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386911	NM_000238.4(KCNH2):c.917-16del	KCNH2	Deletion (intron variant)	Long QT syndrome	GLikely benign
Select item 3386910	NM_000238.4(KCNH2):c.917-14G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386909	NM_000238.4(KCNH2):c.942C>A (p.Gly314=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386908	NM_000238.4(KCNH2):c.1048G>T (p.Ala350Ser)	KCNH2 (A250S +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386907	NM_000238.4(KCNH2):c.1120G>T (p.Val374Phe)	KCNH2 (V274F +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386906	NM_000238.4(KCNH2):c.1129-11C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386905	NM_000238.4(KCNH2):c.1165A>C (p.Lys389Gln)	KCNH2 (K289Q +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386904	NM_000238.4(KCNH2):c.1254C>T (p.Val418=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386903	NM_000238.4(KCNH2):c.1419_1464del (p.Thr474fs)	KCNH2 (T134fs +4 more)	Deletion (frameshift variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386902	NM_000238.4(KCNH2):c.1466_1472del (p.Ile489fs)	KCNH2 (I149fs +4 more)	Deletion (frameshift variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386901	NM_000238.4(KCNH2):c.1854C>A (p.Thr618=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386900	NM_000238.4(KCNH2):c.1932C>G (p.Val644=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386898	NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter)	KCNH2 (Q324* +4 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome	GPathogenic
Select item 3386897	NM_000238.4(KCNH2):c.2146-15C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386896	NM_000238.4(KCNH2):c.2146-10C>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3386895	NM_000238.4(KCNH2):c.2283A>C (p.Thr761=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3386894	NM_000238.4(KCNH2):c.2284C>T (p.His762Tyr)	KCNH2 (H422Y +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 3386893	NM_000238.4(KCNH2):c.2360T>G (p.Ile787Ser)	KCNH2 (I447S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386892	NM_000238.4(KCNH2):c.2381T>G (p.Val794Gly)	KCNH2 (V454G +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386891	NM_000238.4(KCNH2):c.2596A>G (p.Asn866Asp)	KCNH2 (N526D +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386890	NM_000238.4(KCNH2):c.2614C>G (p.Pro872Ala)	KCNH2 (P532A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386889	NM_000238.4(KCNH2):c.2648G>C (p.Arg883Pro)	KCNH2 (R543P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386888	NM_000238.4(KCNH2):c.2658G>T (p.Lys886Asn)	KCNH2 (K546N +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386887	NM_000238.4(KCNH2):c.2888C>G (p.Pro963Arg)	KCNH2 (P623R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386885	NM_000238.4(KCNH2):c.2905G>T (p.Gly969Cys)	KCNH2 (G629C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386884	NM_000238.4(KCNH2):c.2913G>C (p.Glu971Asp)	KCNH2 (E631D +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386883	NM_000238.4(KCNH2):c.2957C>T (p.Pro986Leu)	KCNH2 (P646L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386881	NM_000238.4(KCNH2):c.3025T>A (p.Tyr1009Asn)	KCNH2 (Y1009N +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386880	NM_000238.4(KCNH2):c.3050C>T (p.Ala1017Val)	KCNH2 (A1017V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386879	NM_000238.4(KCNH2):c.3152+3G>A	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3386878	NM_000238.4(KCNH2):c.3367G>C (p.Gly1123Arg)	KCNH2 (G1027R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3386877	NM_000238.4(KCNH2):c.3401G>A (p.Arg1134Gln)	KCNH2 (R1038Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3338336	NM_006888.6(CALM1):c.398G>T (p.Gly133Val)	CALM1, LOC126862021 (G133V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 3338329	NM_000238.4(KCNH2):c.1591_1617del (p.Arg531_Leu539del)	KCNH2	Deletion (inframe_indel +1 more)	Long QT syndrome	GUncertain significance
Select item 3338328	NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp)	KCNH2 (A322D +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely pathogenic
Select item 3252924	NM_000238.4(KCNH2):c.1375G>A (p.Val459Met)	KCNH2 (V119M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3248229	NC_000020.10:g.(?_32005505)_(32005749_?)dup	SNTA1	Duplication	Long QT syndrome	GUncertain significance
Select item 3248228	NC_000020.10:g.(?_31996313)_(32031426_?)dup	SNTA1	Duplication	Long QT syndrome	GUncertain significance
Select item 3248227	NC_000020.10:g.(?_31997921)_(32031426_?)del	SNTA1	Deletion	Long QT syndrome	GUncertain significance
Select item 3248225	NC_000020.10:g.(?_31996313)_(32031426_?)del	SNTA1	Deletion	Long QT syndrome	GUncertain significance
Select item 3246842	NC_000003.11:g.(?_8772238)_(8775689_?)del	CAV3	Deletion	Long QT syndrome	GPathogenic
Select item 3246841	NC_000003.11:g.(?_8775563)_(8787553_?)del	CAV3	Deletion	Long QT syndrome	GPathogenic
Select item 3246584	NC_000004.11:g.(?_114281977)_(114368915_?)dup	ANK2	Duplication	Long QT syndrome	GUncertain significance
Select item 3245705	NC_000007.13:g.(?_91603005)_(91646436_?)dup	AKAP9	Duplication	Long QT syndrome	GUncertain significance
Select item 3245704	NC_000007.13:g.(?_91674302)_(91739473_?)del	AKAP9	Deletion	Long QT syndrome	GUncertain significance
Select item 3245703	NC_000007.13:g.(?_150644460)_(150650773_?)dup	KCNH2	Duplication	Long QT syndrome	GLikely pathogenic
Select item 3245702	NC_000007.13:g.(?_150324807)_(150706375_?)dup	AOC1, GIMAP1 +7 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3245700	NC_000007.13:g.(?_150648516)_(150656844_?)del	KCNH2	Deletion	Long QT syndrome	GPathogenic
Select item 3245699	NC_000007.13:g.(?_150642453)_(150644986_?)del	KCNH2	Deletion	Long QT syndrome	GPathogenic
Select item 3245698	NC_000007.13:g.(?_150644396)_(150644986_?)del	KCNH2	Deletion	Long QT syndrome	GPathogenic
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3245696	NC_000007.13:g.(?_150642453)_(150642622_?)del	KCNH2	Deletion	Long QT syndrome	GUncertain significance

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