ClinVar for MedGen (Select 445) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338339	NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu)	SCN5A (R376L)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation	GLikely pathogenic
Select item 3338330	NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys)	KCNQ1 (E170K +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation	GLikely pathogenic
Select item 2504113	NM_006587.4(CORIN):c.684dup (p.Met229fs)	CORIN (M162fs +1 more)	Duplication (frameshift variant)	Myocardial fibrosis +3 more	GPathogenic
Select item 691749	NM_001267550.2(TTN):c.42513T>A (p.His14171Gln)	TTN (H12530Q +5 more)	Single nucleotide variant (missense variant)	Atrial fibrillation	GLikely benign
Select item 691748	NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn)	TTN (D5732N +5 more)	Single nucleotide variant (missense variant)	Atrial fibrillation +2 more	GConflicting classifications of pathogenicity
Select item 691745	NM_001267550.2(TTN):c.57356A>T (p.Lys19119Met)	TTN, TTN-AS1 (K10179M +5 more)	Single nucleotide variant (missense variant)	Atrial fibrillation	GLikely benign
Select item 691743	NM_001267550.2(TTN):c.63976C>T (p.His21326Tyr)	TTN, TTN-AS1 (H12386Y +5 more)	Single nucleotide variant (missense variant)	Atrial fibrillation	GLikely benign
Select item 691692	NM_001267550.2(TTN):c.57399A>C (p.Leu19133Phe)	TTN, TTN-AS1 (L17492F +5 more)	Single nucleotide variant (missense variant)	Atrial fibrillation	GUncertain significance
Select item 691684	NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln)	TTN, TTN-AS1 (R15399Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 629754	NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)	KCNQ1 (A243V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 617741	NM_000257.4(MYH7):c.5190G>T (p.Met1730Ile)	LOC126861897, MHRT +1 more (M1730I)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrial flutter +3 more	GUncertain significance
Select item 404123	NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg)	HCN4 (G906R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 379225	NM_000335.5(SCN5A):c.4434+5G>A	SCN5A	Single nucleotide variant (intron variant)	Atrial fibrillation +3 more	GConflicting classifications of pathogenicity
Select item 191549	NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)	AKAP9 (H47Y)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +9 more	GBenign/Likely benign
Select item 190528	NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)	ANK2 (I3285T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 178006	NM_004281.4(BAG3):c.187C>G (p.Pro63Ala)	BAG3 (P63A)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 162782	NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)	BAG3 (P380S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 137827	NM_001267550.2(TTN):c.8902+14T>A	TTN	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 137542	NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)	HCN4 (P883R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +9 more	GBenign/Likely benign
Select item 68014	NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)	SCN5A (V1950M +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +11 more	GConflicting classifications of pathogenicity
Select item 68002	NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr)	SCN5A (M1874T +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 67994	NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys)	SCN5A (R1825C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 67865	NM_000335.5(SCN5A):c.414G>A (p.Met138Ile)	SCN5A (M138I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 67795	NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)	SCN5A (T1130I +2 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 67617	NM_172201.2(KCNE2):c.269A>G (p.Glu90Gly)	KCNE2, LOC105372791 (E90G)	Single nucleotide variant (missense variant)	Atrial fibrillation	Gnot provided
Select item 67427	NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr)	KCNH2 (K557T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign
Select item 67094	NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro)	KCNQ1 (S209P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GPathogenic
Select item 67087	NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	KCNQ1 (R195W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 67074	NM_000218.3(KCNQ1):c.440A>G (p.Gln147Arg)	KCNQ1 (Q147R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 67072	NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)	KCNQ1 (V141M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 47636	NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)	TTN (R3120Q +1 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 47633	NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	TTN, TTN-AS1 (R33738C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more	GConflicting classifications of pathogenicity
Select item 47470	NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)	TTN, TTN-AS1 (R29293C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +11 more	GBenign/Likely benign
Select item 47265	NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)	TTN, TTN-AS1 (P23044S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +13 more	GConflicting classifications of pathogenicity
Select item 47051	NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)	LOC101927055, TTN (R1453S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 47010	NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)	TTN, TTN-AS1 (R15772Q +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 46644	NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	LOC126806430, TTN (T6259S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +13 more	GBenign/Likely benign
Select item 30121	NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)	KCNJ2 (V93I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 30049	NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys)	SCN5A (E655K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 10 +10 more	GUncertain significance
Select item 30048	NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys)	SCN5A (E428K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 10 +11 more	GUncertain significance
Select item 30047	NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys)	SCN5A (N470K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 30046	NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)	SCN5A (H445D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 30045	NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)	SCN5A (N1986K +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 16998	NM_181703.4(GJA5):c.286G>T (p.Ala96Ser)	GJA5 (A96S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 9402	NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)	SCN5A (D1819N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 8476	NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)	SNTA1 (A390V)	Single nucleotide variant (missense variant)	Atrial fibrillation +3 more	GConflicting classifications of pathogenicity
Select item 6055	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)	KCNE2, LOC105372791 (R27C)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 3143	NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly)	KCNQ1 (S140G +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3	GPathogenic

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Items: 49