ClinVar (all) for Orgtrack (Select 508618) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1693216	NM_001005242.3(PKP2):c.1755del (p.Asn585fs)	PKP2 (N585fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693215	NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer)	DSP	Deletion (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693214	NM_004415.4(DSP):c.793_794del (p.Arg265fs)	DSP (R265fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693213	NM_004415.4(DSP):c.5380-1G>A	DSP	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693212	NM_024334.3(TMEM43):c.584-4T>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693211	NM_002230.4(JUP):c.1408G>A (p.Glu470Lys)	JUP (E470K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693210	NM_002230.4(JUP):c.*19G>A	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693209	NM_002230.4(JUP):c.708-3C>A	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693208	NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln)	TGFB3 (P285Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693207	NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys)	TGFB3 (R266C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693206	NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs)	DSP (R1795fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693205	NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys)	RYR2 (R4665K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693204	NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)	RYR2 (H3665Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 1693203	NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)	RYR2 (P3663S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 1693202	NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn)	RYR2 (S2797N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693201	NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu)	RYR2 (S2683L)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1693200	NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu)	RYR2 (M1487L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693199	NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys)	RYR2 (F1763C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693198	NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp)	RYR2 (N2365D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693197	NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs)	DSG2 (G640fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693196	NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile)	RYR2 (T2105I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693195	NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys)	RYR2 (Y2620C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693194	NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr)	RYR2 (D1623Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693193	NM_001005242.3(PKP2):c.337-5T>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693192	NM_001005242.3(PKP2):c.968_969del (p.Gln323fs)	PKP2 (Q323fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693191	NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu)	PKP2 (K455E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693190	NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)	DSP (L1764P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 1693189	NM_004415.4(DSP):c.6167G>T (p.Gly2056Val)	DSP (G1457V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693188	NM_004415.4(DSP):c.1627A>C (p.Asn543His)	DSP (N543H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693187	NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)	DSC2 (T168fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693186	NM_001943.5(DSG2):c.829-3C>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693185	NM_001943.5(DSG2):c.323C>G (p.Thr108Ser)	DSG2 (T108S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693184	NM_024422.6(DSC2):c.2251-3C>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1693183	NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys)	DSC2 (T713K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1693182	NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu)	RYR2 (K4674E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693181	NM_001005242.3(PKP2):c.938del (p.Ser313fs)	PKP2 (S313fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693180	NM_001005242.3(PKP2):c.861del (p.Arg287fs)	PKP2 (R287fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693179	NM_001005242.3(PKP2):c.1904del (p.His635fs)	PKP2 (H635fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1693178	NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)	DSC2 (S526*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1534162	NM_001943.5(DSG2):c.1014+7A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1514029	NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)	DSC2 (D238G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 1507790	NM_001943.5(DSG2):c.82-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1443926	NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs)	PKP2 (L422fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1384067	NM_000218.3(KCNQ1):c.921+1G>A	KCNQ1	Single nucleotide variant (splice donor variant +1 more)	Long QT syndrome 1 +1 more	GPathogenic
Select item 1264836	NM_000218.3(KCNQ1):c.1685+36A>G	KCNQ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 926686	NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser)	KCNQ1 (A160S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 869435	NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)	KCNQ1 (A243E +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 654023	NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)	RYR2 (E4081K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 620198	NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)	KCNQ1 (Q249* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 526906	NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln)	KCNQ1 (R384Q +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +3 more	GUncertain significance
Select item 449221	NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	KCNQ1 (P67fs)	Deletion (frameshift variant)	Long QT syndrome +7 more	GPathogenic/Likely pathogenic
Select item 405262	NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs)	KCNQ1 (R122fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +2 more	GPathogenic
Select item 404210	NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	RYR2 (S1765C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 280173	NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)	KCNQ1 (R104S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic
Select item 200857	NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)	KCNQ1 (R464L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 200814	NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)	KCNQ1 (R174L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 67040	NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)	KCNQ1 (A525V +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 53134	NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile)	KCNQ1 (T311I +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 53116	NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	KCNQ1 (S277L +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +6 more	GPathogenic
Select item 53100	NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	KCNQ1 (R259C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 53090	NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	KCNQ1 (D242N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 53086	NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	KCNQ1 (R231C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 53084	NM_000218.3(KCNQ1):c.683+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 53069	NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	KCNQ1 (R190fs +1 more)	Duplication (frameshift variant)	Long QT syndrome 1 +3 more	GPathogenic
Select item 53066	NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)	KCNQ1 (L187P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 53058	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1 (R174C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 53055	NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)	KCNQ1 (T169R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 53027	NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R505fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 53022	NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)	KCNQ1, KCNQ1-AS1 (G626S +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 53003	NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	KCNQ1 (R555H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GPathogenic/Likely pathogenic
Select item 52998	NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	KCNQ1 (R539W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 52978	NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	KCNQ1 (E449fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 52977	NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)	KCNQ1 (P448fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 52964	NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)	KCNQ1 (R380S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 52955	NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	KCNQ1 (R366W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +22 more	GPathogenic/Likely pathogenic
Select item 52950	NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	KCNQ1 (Q359* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +8 more	GPathogenic
Select item 52938	NM_000218.3(KCNQ1):c.1032+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1	GPathogenic/Likely pathogenic
Select item 52936	NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)	KCNQ1 (A344V +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +4 more	GPathogenic
Select item 42489	NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GBenign
Select item 42488	NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)	KCNQ1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +9 more	GBenign
Select item 3144	NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	KCNQ1 (G269S +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 3138	NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	KCNQ1 (T587M +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic
Select item 3135	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +6 more	GPathogenic
Select item 3128	NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	KCNQ1 (A300T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 3126	NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	KCNQ1 (R555C +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GPathogenic

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