ClinVar for MedGen (Select 1641146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341345	NM_000218.3(KCNQ1):c.173C>A (p.Ala58Asp)	KCNQ1 (A58D)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 3247133	NC_000002.11:g.(?_47403560)_(47403582_?)dup	CALM2	Duplication	Long QT syndrome 1	GUncertain significance
Select item 3235934	NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser)	KCNQ1 (R411S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 3235891	NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa)	KCNQ1, KCNQ1-AS1	Deletion (stop lost)	Atrial fibrillation, familial, 3 +2 more	GLikely pathogenic
Select item 3002707	NM_005184.4(CALM3):c.422-7T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2973423	NM_005184.4(CALM3):c.34+11T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2967941	NM_005184.4(CALM3):c.421+16G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2918477	NM_001743.6(CALM2):c.286-19A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2917680	NM_005184.4(CALM3):c.3+17G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2917527	NM_005184.4(CALM3):c.159C>T (p.Ile53=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2915003	NM_005184.4(CALM3):c.132C>T (p.Pro44=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2913041	NM_005184.4(CALM3):c.57C>A (p.Leu19=)	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2903652	NM_001743.6(CALM2):c.286-6del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GBenign
Select item 2903536	NM_001743.6(CALM2):c.178+4A>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2900380	NM_001743.6(CALM2):c.4-19C>A	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2900219	NM_001743.6(CALM2):c.4-17C>G	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2897948	NM_001743.6(CALM2):c.422-9C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2894830	NM_001743.6(CALM2):c.291C>T (p.Gly97=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2891837	NM_001743.6(CALM2):c.285+3A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2883048	NM_005184.4(CALM3):c.3+19T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2871265	NM_001743.6(CALM2):c.308C>T (p.Ala103Val)	CALM2 (A103V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2867732	NM_005184.4(CALM3):c.332C>T (p.Thr111Met)	CALM3 (T111M +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2845331	NM_005184.4(CALM3):c.35-13C>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2836055	NM_001743.6(CALM2):c.249A>G (p.Glu83=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2827383	NM_005184.4(CALM3):c.159C>A (p.Ile53=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2824731	NM_001743.6(CALM2):c.178+10C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2813326	NM_001743.6(CALM2):c.105T>C (p.Thr35=)	CALM2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2802064	NM_001743.6(CALM2):c.359AAG[1] (p.Glu121del)	CALM2 (E121del +2 more)	Microsatellite (inframe_deletion)	Long QT syndrome 1	GUncertain significance
Select item 2799934	NM_005184.4(CALM3):c.35-18T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2795402	NM_005184.4(CALM3):c.213C>T (p.Thr71=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2789948	NM_005184.4(CALM3):c.342G>A (p.Gly114=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2785081	NM_001743.6(CALM2):c.421+4A>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2777764	NM_005184.4(CALM3):c.4-6T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2772141	NM_005184.4(CALM3):c.363G>A (p.Glu121=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2768970	NM_001743.6(CALM2):c.307G>A (p.Ala103Thr)	CALM2 (A67T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2742234	NM_001743.6(CALM2):c.286-14A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2739471	NM_005184.4(CALM3):c.51C>T (p.Phe17=)	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2738009	NM_005184.4(CALM3):c.147G>A (p.Leu49=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2737743	NM_001743.6(CALM2):c.286-13A>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2734184	NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)	CALM2 (F138L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 2733510	NM_001743.6(CALM2):c.35-14T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2729491	NM_001743.6(CALM2):c.421+13G>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2727891	NM_005184.4(CALM3):c.422-20C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2724661	NM_001743.6(CALM2):c.3+20G>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2724342	NM_005184.4(CALM3):c.325G>A (p.Val109Ile)	CALM3 (V109I +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2721341	NM_005184.4(CALM3):c.393C>T (p.Ile131=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2721251	NM_001743.6(CALM2):c.421+11C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2720409	NM_001743.6(CALM2):c.34+5G>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2717024	NM_005184.4(CALM3):c.35-14C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2714374	NM_001743.6(CALM2):c.441_*4del (p.Ala148fs)	CALM2 (A112fs +2 more)	Deletion (frameshift variant)	Long QT syndrome 1	GUncertain significance
Select item 2710832	NM_001743.6(CALM2):c.342A>C (p.Gly114=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2705241	NM_005184.4(CALM3):c.421+18T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2703155	NM_001743.6(CALM2):c.421+8T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2697885	NM_001743.6(CALM2):c.310G>A (p.Ala104Thr)	CALM2 (A68T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2696320	NM_001743.6(CALM2):c.16A>T (p.Thr6Ser)	CALM2 (T54S +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 2665045	NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)	KCNQ1 (S95R)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome type 2 +2 more	GUncertain significance
Select item 2619146	NM_005184.4(CALM3):c.421+5G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GUncertain significance
Select item 2577445	NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs)	KCNQ1 (G119fs)	Insertion (frameshift variant +1 more)	Long QT syndrome 1	GPathogenic
Select item 2575074	NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)	KCNQ1 (S227fs +4 more)	Insertion (frameshift variant)	Long QT syndrome 1	GPathogenic
Select item 2575073	NM_000218.3(KCNQ1):c.584_604+46del	KCNQ1	Deletion (splice donor variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 2575072	NM_000218.3(KCNQ1):c.1128+4dup	KCNQ1	Duplication (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2575071	NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)	KCNQ1	Deletion (inframe_deletion +1 more)	Long QT syndrome 1	GPathogenic
Select item 2575070	NM_000218.3(KCNQ1):c.387-1G>C	KCNQ1	Single nucleotide variant (splice acceptor variant)	Long QT syndrome 1	GLikely pathogenic
Select item 2575069	NC_000011.9:g.(?_2683186)_(2683314_?)del	KCNQ1OT1, KCNQ1	Deletion	Long QT syndrome 1	GPathogenic
Select item 2575068	NM_000218.3(KCNQ1):c.1487del (p.Leu496fs)	KCNQ1, KCNQ1OT1 (L316fs +4 more)	Deletion (frameshift variant)	Long QT syndrome 1	GLikely pathogenic
Select item 2575067	NM_000218.3(KCNQ1):c.398del (p.Val133fs)	KCNQ1 (V133fs +2 more)	Deletion (frameshift variant)	Long QT syndrome 1	GPathogenic
Select item 2575066	NM_000218.3(KCNQ1):c.1794+1G>A	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome 1	GLikely pathogenic
Select item 2575065	NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln)	KCNQ1 (L135Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 2575064	NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)	KCNQ1 (F192L +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 2575063	NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)	KCNQ1 (W177G +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 2574107	NM_000218.3(KCNQ1):c.788del (p.Ile263fs)	KCNQ1 (I136fs +2 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 1	GPathogenic
Select item 2574106	NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)	KCNQ1 (S246* +2 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 2502315	NM_000218.3(KCNQ1):c.248del (p.Pro83fs)	KCNQ1 (P83fs)	Deletion (frameshift variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 2502213	NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)	KCNQ1 (F237L +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 3 +3 more	GUncertain significance
Select item 2500049	NM_000218.3(KCNQ1):c.387-6394G>C	KCNQ1 (S27T)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 3 +3 more	GUncertain significance
Select item 2446426	NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg)	KCNQ1 (G179R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 2424228	NC_000002.11:g.(?_47387915)_(47397923_?)dup	CALM2	Duplication	Long QT syndrome 1	GUncertain significance
Select item 2424227	NC_000002.11:g.(?_47388842)_(47403582_?)dup	CALM2	Duplication	Long QT syndrome 1	GUncertain significance
Select item 2416848	NM_005184.4(CALM3):c.35-19C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2415104	NM_005184.4(CALM3):c.35-9T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2415025	NM_005184.4(CALM3):c.192T>A (p.Ile64=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2197543	NM_005184.4(CALM3):c.178+12A>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2195391	NM_005184.4(CALM3):c.3+14G>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2191629	NM_001743.6(CALM2):c.422-15C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2188743	NM_001743.6(CALM2):c.422-12C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2182759	NM_005184.4(CALM3):c.421+14A>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2177548	NM_001743.6(CALM2):c.34+19G>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2175885	NM_001743.6(CALM2):c.285+17A>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2171883	NM_005184.4(CALM3):c.310G>A (p.Ala104Thr)	CALM3 (A104T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2164047	NM_001743.6(CALM2):c.178+7C>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2156640	NM_005184.4(CALM3):c.286-4C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2155102	NM_005184.4(CALM3):c.422-5C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2154500	NM_001743.6(CALM2):c.285+9A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2154130	NM_001743.6(CALM2):c.3+13C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2151972	NM_005184.4(CALM3):c.35-18T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2147059	NM_005184.4(CALM3):c.421+6T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2145503	NM_001743.6(CALM2):c.421+19C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2144363	NM_005184.4(CALM3):c.179-13C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2141307	NM_001743.6(CALM2):c.3+18C>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2138308	NM_005184.4(CALM3):c.426T>G (p.Phe142Leu)	CALM3 (F106L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance

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