"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138009	NM_000218.3(KCNQ1):c.-5T>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 3 +7 more	GConflicting classifications of pathogenicity
Select item 53028	NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)	KCNQ1 (P7S)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 2899907	NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)	KCNQ1 (C34*)	Single nucleotide variant (nonsense +1 more)	Congenital long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 52982	NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)	KCNQ1 (A46T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +8 more	GUncertain significance
Select item 42487	NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)	KCNQ1	Duplication (inframe_insertion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 52989	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	KCNQ1 (Y51*)	Single nucleotide variant (nonsense)	Cardiac arrhythmia +4 more	GPathogenic/Likely pathogenic
Select item 517627	NM_000218.3(KCNQ1):c.181C>A (p.Pro61Thr)	KCNQ1 (P61T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3076068	NM_000218.3(KCNQ1):c.191del (p.Pro64fs)	KCNQ1 (P64fs)	Deletion (frameshift variant +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 666706	NM_000218.3(KCNQ1):c.192T>C (p.Pro64=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 138010	NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +7 more	GBenign/Likely benign
Select item 163732	NM_000218.3(KCNQ1):c.225T>C (p.Val75=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 666842	NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg)	KCNQ1 (S95R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 53034	NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)	KCNQ1 (V110I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178873	NM_000218.3(KCNQ1):c.347G>A (p.Arg116His)	KCNQ1 (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178384	NM_000218.3(KCNQ1):c.386+16242G>A	KCNQ1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 53040	NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu)	KCNQ1 (I132L +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 200891	NM_000218.3(KCNQ1):c.403del (p.Val135fs)	KCNQ1 (V135fs +1 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome +3 more	GPathogenic/Likely pathogenic
Select item 163734	NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 138011	NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 67075	NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)	KCNQ1 (T153M +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 138012	NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 200874	NM_000218.3(KCNQ1):c.477+1G>A	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome 1 +5 more	GPathogenic
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +6 more	GPathogenic
Select item 163735	NM_000218.3(KCNQ1):c.477+9C>T	KCNQ1	Single nucleotide variant (intron variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 42490	NM_000218.3(KCNQ1):c.478-10G>A	KCNQ1	Single nucleotide variant (intron variant)	not specified +8 more	GBenign
Select item 42491	NM_000218.3(KCNQ1):c.478-8C>T	KCNQ1	Single nucleotide variant (intron variant)	Congenital long QT syndrome +6 more	GBenign/Likely benign
Select item 67077	NM_000218.3(KCNQ1):c.484G>A (p.Val162Met)	KCNQ1 (V162M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 53050	NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	KCNQ1 (L36fs)	Deletion (frameshift variant)	Long QT syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 504601	NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +2 more	GLikely benign
Select item 178385	NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 227463	NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 53063	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	KCNQ1 (G179S +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +6 more	GPathogenic
Select item 207967	NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	KCNQ1 (G186D +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GLikely pathogenic
Select item 163737	NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 67084	NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	KCNQ1 (R190L +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GPathogenic/Likely pathogenic
Select item 3117	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic/Likely pathogenic
Select item 53072	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	KCNQ1 (R192fs +1 more)	Deletion (frameshift variant)	not provided +8 more	GPathogenic
Select item 578178	NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)	KCNQ1 (R65C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 53076	NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	KCNQ1 (K69fs +1 more)	Deletion (frameshift variant)	Cardiac arrhythmia +4 more	GPathogenic
Select item 178386	NM_000218.3(KCNQ1):c.604+12C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified +6 more	GLikely benign
Select item 226686	NM_000218.3(KCNQ1):c.605-11G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 37255	NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	KCNQ1 (V205M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 42492	NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)	KCNQ1 (V207M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 413279	NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 53083	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	KCNQ1 (S225L +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +9 more	GPathogenic/Likely pathogenic
Select item 504602	NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 651458	NM_000218.3(KCNQ1):c.683+1G>A	KCNQ1	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42493	NM_000218.3(KCNQ1):c.720C>T (p.His240=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
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 53092	NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	KCNQ1 (R243H +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome +5 more	GPathogenic/Likely pathogenic
Select item 53100	NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	KCNQ1 (R259C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 163739	NM_000218.3(KCNQ1):c.781-19TG[2]	KCNQ1	Microsatellite (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 379083	NM_000218.3(KCNQ1):c.804C>T (p.Ile268=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GLikely benign
Select item 3145	NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)	KCNQ1 (G269D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 138001	NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 67109	NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	KCNQ1 (I274V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 189232	NM_000218.3(KCNQ1):c.826del (p.Ser276fs)	KCNQ1 (S149fs +1 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome +1 more	GLikely pathogenic
Select item 53116	NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	KCNQ1 (S277L +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +6 more	GPathogenic
Select item 53118	NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu)	KCNQ1 (A287E +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 53120	NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)	KCNQ1 (E290K +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GUncertain significance
Select item 179293	NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1457672	NM_000218.3(KCNQ1):c.919del (p.Val307fs)	KCNQ1 (V307fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 53124	NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	KCNQ1 (W305* +2 more)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic
Select item 179935	NM_000218.3(KCNQ1):c.948G>C (p.Gly316=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 163741	NM_000218.3(KCNQ1):c.1032+11C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 255565	NM_000218.3(KCNQ1):c.1033-4C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 200836	NM_000218.3(KCNQ1):c.1033-2A>G	KCNQ1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 227458	NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GLikely benign
Select item 52946	NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	KCNQ1 (Q356* +2 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +6 more	GPathogenic
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	not provided +23 more	GConflicting classifications of pathogenicity
Select item 52955	NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	KCNQ1 (R366W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 200811	NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +8 more	GBenign/Likely benign
Select item 200842	NM_000218.3(KCNQ1):c.1128+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Hearing impairment +9 more	GConflicting classifications of pathogenicity
Select item 505422	NM_000218.3(KCNQ1):c.1129-8G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 928161	NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn)	KCNQ1 (D388N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 227459	NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 67020	NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	KCNQ1 (K393N +4 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 52970	NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	KCNQ1 (R397W +4 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome +11 more	GConflicting classifications of pathogenicity
Select item 228760	NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly)	KCNQ1 (A272G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 200903	NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp)	KCNQ1 (R274W +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 228765	NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln)	KCNQ1 (R274Q +4 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 42484	NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala)	KCNQ1 (P408A +4 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 505109	NM_000218.3(KCNQ1):c.1295C>T (p.Thr432Ile)	KCNQ1 (T305I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 52978	NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	KCNQ1 (E449fs +1 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic
Select item 67027	NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)	KCNQ1 (P448L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 67026	NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)	KCNQ1 (P448R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +8 more	GBenign/Likely benign
Select item 227460	NM_000218.3(KCNQ1):c.1374C>T (p.Val458=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 42485	NM_000218.3(KCNQ1):c.1394-14C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 163742	NM_000218.3(KCNQ1):c.1394-8C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 138004	NM_000218.3(KCNQ1):c.1394-8C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 42486	NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +9 more	GBenign/Likely benign
Select item 666841	NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)	KCNQ1, KCNQ1OT1 (I373V +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 52984	NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)	KCNQ1, KCNQ1OT1 (Q505* +4 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 227461	NM_000218.3(KCNQ1):c.1514+7G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 200850	NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)	KCNQ1 (E381* +4 more)	Single nucleotide variant (nonsense)	Congenital long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +8 more	GPathogenic
Select item 67037	NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)	KCNQ1 (R519C +4 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +8 more	GUncertain significance
Select item 36436	NM_000218.3(KCNQ1):c.1590+14T>C	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +8 more	GBenign/Likely benign
Select item 666975	NM_000218.3(KCNQ1):c.1591-1G>A	KCNQ1	Single nucleotide variant (splice acceptor variant)	Congenital long QT syndrome +1 more	GPathogenic/Likely pathogenic

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