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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(T19609I +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
GUncertain significance
NKX2-5
(Y237*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary dilated cardiomyopathy
+4 more
GPathogenic
CACNA2D1
(D550Y +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+6 more
GConflicting classifications of pathogenicity
DSP
(S843*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+5 more
GPathogenic
MYH6
(R871H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+7 more
GUncertain significance
DSP
(R1045Q)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
+8 more
GConflicting classifications of pathogenicity
DSG2-AS1, DSG2
(G1089S)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
GUncertain significance
CACNB2
Single nucleotide variant
(intron variant)
Ventricular fibrillation
+1 more
GConflicting classifications of pathogenicity
AKAP9
(D1758H)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
GUncertain significance
PKP2
(G322C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
RYR2
(R420W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T27335S +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+9 more
GConflicting classifications of pathogenicity
AKAP9
(Q3031R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
KCNJ2
(R325C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
AKAP9
(R1609Q)
Indel
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
GAA
(L226V)
Single nucleotide variant
(missense variant)
GAA-related condition
+4 more
GBenign/Likely benign
TRPM4
(D561A +4 more)
Single nucleotide variant
(missense variant)
TRPM4-related condition
+6 more
GBenign/Likely benign
SNTA1
(A404T)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
GUncertain significance
SCN1B
(R187H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNB2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GUncertain significance
AKAP9
(A1194T)
Single nucleotide variant
(missense variant)
AKAP9-related condition
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R28C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
SCN5A
(G400A)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
Gnot provided
TTN, TTN-AS1
(M34793L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GBenign/Likely benign
TTN-AS1, TTN
(A31885T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(E19546Q +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(R19155K +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+9 more
GBenign/Likely benign
LOC130057222, TPM1
+1 more
(G3R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Ventricular fibrillation
+2 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(A1637T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GLikely benign
KCNQ1
Duplication
(inframe_insertion)
KCNQ1-related condition
+5 more
GConflicting classifications of pathogenicity
MYH7
(N1327K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely benign
ANK2
(E1813K +50 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+7 more
GBenign/Likely benign
SCN5A
(S1710L +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GPathogenic/Likely pathogenic
KCNE3, LIPT2
(R83H)
Single nucleotide variant
(missense variant)
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
+8 more
GConflicting classifications of pathogenicity
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