ClinVar for MedGen (Select 44193) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 11114

<< First< Prev

Page of 112

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3245695	NC_000007.13:g.(?_150674906)_(150675001_?)del	KCNH2	Deletion	Long QT syndrome	GPathogenic
Select item 3245694	NC_000007.13:g.(?_150324807)_(150706375_?)del	AOC1, GIMAP1 +7 more	Deletion	Long QT syndrome	GPathogenic
Select item 3244545	NC_000011.9:g.(?_2683171)_(2799287_?)dup	KCNQ1, KCNQ1OT1	Duplication	Long QT syndrome	GLikely pathogenic
Select item 3244544	NC_000011.9:g.(?_2233574)_(2499178_?)dup	ASCL2, C11orf21 +5 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3244543	NC_000011.9:g.(?_2466329)_(2869233_?)dup	KCNQ1, KCNQ1OT1	Duplication	Long QT syndrome	GUncertain significance
Select item 3244542	NC_000011.9:g.(?_2549138)_(2594236_?)del	KCNQ1	Deletion	Long QT syndrome	GPathogenic
Select item 3244541	NC_000011.9:g.(?_2604645)_(2604795_?)del	KCNQ1	Deletion	Long QT syndrome	GPathogenic
Select item 3244540	NC_000011.9:g.(?_2868977)_(2869233_?)del	KCNQ1	Deletion	Long QT syndrome	GPathogenic
Select item 3244234	NC_000012.11:g.(?_2566713)_(2800365_?)dup	CACNA1C	Duplication	Long QT syndrome	GUncertain significance
Select item 3244233	NC_000012.11:g.(?_2797593)_(2800365_?)dup	CACNA1C	Duplication	Long QT syndrome	GUncertain significance
Select item 3244232	NC_000012.11:g.(?_2659089)_(2800365_?)dup	CACNA1C	Duplication	Long QT syndrome	GUncertain significance
Select item 3244231	NC_000012.11:g.(?_2162729)_(2666163_?)dup	CACNA1C	Duplication	Long QT syndrome	GUncertain significance
Select item 3236854	NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs)	KCNH2 (Q25fs)	Insertion (frameshift variant +1 more)	Long QT syndrome	GPathogenic
Select item 3233417	NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser)	CACNA1C (R515S +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +1 more	GLikely pathogenic
Select item 3075500	NM_000238.4(KCNH2):c.1339T>C (p.Tyr447His)	KCNH2 (Y107H +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075421	NM_000238.4(KCNH2):c.2367C>T (p.Ile789=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3075397	NM_000238.4(KCNH2):c.2194C>T (p.Leu732=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3075396	NM_000218.3(KCNQ1):c.1252-12T>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3075368	NM_000238.4(KCNH2):c.438C>A (p.Asn146Lys)	KCNH2 (N146K +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075354	NM_000218.3(KCNQ1):c.2028_*9del (p.Ter677GlyextTer?)	KCNQ1, KCNQ1-AS1	Deletion (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 3075342	NM_000218.3(KCNQ1):c.1179G>C (p.Lys393Asn)	KCNQ1 (K213N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 3075340	NM_000218.3(KCNQ1):c.1892C>T (p.Pro631Leu)	KCNQ1, KCNQ1-AS1 (P135L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075325	NM_000238.4(KCNH2):c.2287G>C (p.Ala763Pro)	KCNH2 (A423P +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075313	NM_000238.4(KCNH2):c.2075C>T (p.Pro692Leu)	KCNH2 (P352L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075307	NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs)	KCNH2 (V565fs +2 more)	Duplication (frameshift variant)	Long QT syndrome	GPathogenic
Select item 3075294	NM_000238.4(KCNH2):c.2918T>G (p.Leu973Arg)	KCNH2 (L633R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075291	NM_000238.4(KCNH2):c.2939G>A (p.Ser980Asn)	KCNH2 (S640N +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075255	NM_000218.3(KCNQ1):c.1946A>G (p.Asp649Gly)	KCNQ1, KCNQ1-AS1 (D153G +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075247	NM_000238.4(KCNH2):c.2491C>T (p.His831Tyr)	KCNH2 (H491Y +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075242	NM_000238.4(KCNH2):c.1989C>G (p.Ile663Met)	KCNH2 (I323M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075218	NM_000238.4(KCNH2):c.2354G>A (p.Gly785Asp)	KCNH2 (G445D +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075204	NM_000218.3(KCNQ1):c.1822C>T (p.Leu608Phe)	KCNQ1, KCNQ1-AS1 (L112F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075200	NM_000218.3(KCNQ1):c.1282G>T (p.Asp428Tyr)	KCNQ1 (D248Y +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075141	NM_000218.3(KCNQ1):c.1065G>A (p.Val355=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3075130	NM_000238.4(KCNH2):c.472+3A>G	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3075125	NM_000218.3(KCNQ1):c.660G>T (p.Gln220His)	KCNQ1 (Q130H +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075080	NM_000218.3(KCNQ1):c.1067_1078del (p.Gln356_Gln359del)	KCNQ1	Deletion (inframe_deletion +1 more)	Long QT syndrome	GUncertain significance
Select item 3075071	NM_000238.4(KCNH2):c.2882C>T (p.Pro961Leu)	KCNH2 (P621L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075051	NM_000238.4(KCNH2):c.52A>C (p.Ile18Leu)	KCNH2 (I18L)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075023	NM_000218.3(KCNQ1):c.1162G>C (p.Asp388His)	KCNQ1 (D208H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074995	NM_000218.3(KCNQ1):c.1891C>G (p.Pro631Ala)	KCNQ1, KCNQ1-AS1 (P135A +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074983	NM_000238.4(KCNH2):c.3474C>A (p.Gly1158=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3074960	NM_000218.3(KCNQ1):c.1856T>C (p.Leu619Ser)	KCNQ1, KCNQ1-AS1 (L123S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074935	NM_000218.3(KCNQ1):c.1046C>T (p.Ser349Leu)	KCNQ1 (S222L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074832	NM_000238.4(KCNH2):c.2100C>T (p.Tyr700=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3074807	NM_000238.4(KCNH2):c.2548G>A (p.Asp850Asn)	KCNH2 (D510N +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074799	NM_000218.3(KCNQ1):c.1403G>T (p.Ser468Ile)	KCNQ1, KCNQ1OT1 (S288I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074738	NM_000238.4(KCNH2):c.3374C>T (p.Pro1125Leu)	KCNH2 (P1029L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074641	NM_000238.4(KCNH2):c.2687A>G (p.Asp896Gly)	KCNH2 (D556G +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3074542	NM_000238.4(KCNH2):c.1945T>G (p.Ser649Ala)	KCNH2 (S309A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074538	NM_000218.3(KCNQ1):c.1132G>C (p.Ala378Pro)	KCNQ1 (A198P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074516	NM_000218.3(KCNQ1):c.1045T>G (p.Ser349Ala)	KCNQ1 (S222A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074474	NM_000238.4(KCNH2):c.2202C>T (p.Arg734=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3074316	NM_000218.3(KCNQ1):c.1747C>G (p.Arg583Gly)	KCNQ1 (R403G +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074296	NM_000218.3(KCNQ1):c.1257G>C (p.Lys419Asn)	KCNQ1 (K239N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074294	NM_000238.4(KCNH2):c.90C>T (p.Ile30=)	KCNH2	Single nucleotide variant (synonymous variant +2 more)	Long QT syndrome	GLikely benign
Select item 3074275	NM_000218.3(KCNQ1):c.1944C>G (p.Val648=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3074230	NM_000218.3(KCNQ1):c.906G>C (p.Ala302=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3074189	NM_000238.4(KCNH2):c.2198A>C (p.Asn733Thr)	KCNH2 (N393T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074168	NM_000238.4(KCNH2):c.302A>C (p.Lys101Thr)	KCNH2 (K101T +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074159	NM_000238.4(KCNH2):c.1917C>A (p.Ile639=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3074117	NM_000238.4(KCNH2):c.2531T>C (p.Met844Thr)	KCNH2 (M504T +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074111	NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs)	KCNH2 (A375fs +4 more)	Microsatellite (frameshift variant +1 more)	Long QT syndrome	GPathogenic
Select item 3074102	NM_000218.3(KCNQ1):c.1145A>G (p.Tyr382Cys)	KCNQ1 (Y202C +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074046	NM_000218.3(KCNQ1):c.684-7T>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3074036	NM_000238.4(KCNH2):c.3478T>G (p.Ter1160Glu)	KCNH2	Single nucleotide variant (stop lost +1 more)	Long QT syndrome	GUncertain significance
Select item 3074002	NM_000238.4(KCNH2):c.437A>G (p.Asn146Ser)	KCNH2 (N146S +3 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073983	NM_000218.3(KCNQ1):c.1819G>A (p.Ala607Thr)	KCNQ1, KCNQ1-AS1 (A111T +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073965	NM_000218.3(KCNQ1):c.1868G>T (p.Ser623Ile)	KCNQ1, KCNQ1-AS1 (S127I +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073960	NM_000238.4(KCNH2):c.83A>G (p.Lys28Arg)	KCNH2 (K28R)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GUncertain significance
Select item 3073936	NM_000238.4(KCNH2):c.35A>T (p.Asn12Ile)	KCNH2 (N12I)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073928	NM_000238.4(KCNH2):c.3052C>T (p.Pro1018Ser)	KCNH2 (P1018S +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073915	NM_000238.4(KCNH2):c.1636G>A (p.Gly546Ser)	KCNH2 (G206S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073894	NM_000238.4(KCNH2):c.2657A>C (p.Lys886Thr)	KCNH2 (K546T +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073879	NM_000238.4(KCNH2):c.23T>G (p.Val8Gly)	KCNH2 (V8G)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073871	NM_000238.4(KCNH2):c.3055A>C (p.Thr1019Pro)	KCNH2 (T1019P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073819	NM_000218.3(KCNQ1):c.715C>G (p.Leu239Val)	KCNQ1 (L112V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073755	NM_000218.3(KCNQ1):c.1310T>G (p.Met437Arg)	KCNQ1 (M257R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073751	NM_000238.4(KCNH2):c.3459C>A (p.His1153Gln)	KCNH2 (H1057Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073701	NM_000218.3(KCNQ1):c.1686-12C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3073699	NM_000238.4(KCNH2):c.308-14C>T	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3073692	NM_000218.3(KCNQ1):c.970G>C (p.Val324Leu)	KCNQ1 (V176L +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073690	NM_000218.3(KCNQ1):c.564G>C (p.Trp188Cys)	KCNQ1 (W188C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073671	NM_000238.4(KCNH2):c.2598C>T (p.Asn866=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign

<< First< Prev

Page of 112