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Links from MedGen

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 17
+1 more
GUncertain significance
JPH2
(D125N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
JPH2
(R533H)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+2 more
GUncertain significance
JPH2
(H473Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+1 more
GUncertain significance
JPH2
(E19D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JPH2
(P183A)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+3 more
GUncertain significance
JPH2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
JPH2
(N172S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(A181T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(A620T)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+3 more
GUncertain significance
JPH2
(P526L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JPH2
(P585S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JPH2
(R93C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(H26R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(N321S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(E169K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
GUncertain significance
JPH2
(G591V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
JPH2
(A277S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(K503R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
Duplication
(splice donor variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(S306G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
GUncertain significance
JPH2
(A661E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(E317K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
JPH2
(P578T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
JPH2
(Q549*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(E623Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JPH2
(G219C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(R479L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
JPH2
(R655Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(W64*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 17
GLikely pathogenic
JPH2
(A659T)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+3 more
GUncertain significance
JPH2
(T646S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
JPH2
(E121K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JPH2
(R197L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
JPH2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 17
+2 more
GLikely benign
JPH2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
JPH2
(E632K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
JPH2
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
JPH2
(N207S)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+3 more
GUncertain significance
JPH2
(P465L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
JPH2
(A405T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(V345L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
JPH2
(T76A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
JPH2
(R572C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
JPH2
(S100L)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+4 more
GUncertain significance
JPH2
(P431L)
Single nucleotide variant
(missense variant)
Cardiomyopathy, dilated, 2E
+4 more
GUncertain significance
JPH2
(R93H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
(K653del)
Microsatellite
(inframe_deletion)
Cardiomyopathy, dilated, 2E
+4 more
GUncertain significance
JPH2
(E280K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
JPH2
(N360H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+3 more
GUncertain significance
JPH2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy, dilated, 2E
+3 more
GLikely benign
JPH2
(P478L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
JPH2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
JPH2
(P453S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JPH2
(A664T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JPH2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
JPH2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
JPH2
(T290I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JPH2
(R231Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+5 more
GUncertain significance
JPH2
(Q428*)
Single nucleotide variant
(nonsense)
Cardiomyopathy, dilated, 2E
+3 more
GUncertain significance
JPH2
(P188S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
JPH2
(F221L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JPH2
(R213W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+5 more
GConflicting classifications of pathogenicity
JPH2
(V153A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
JPH2
(N43S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
JPH2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JPH2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 17
+2 more
GUncertain significance
JPH2
(E402K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+6 more
GConflicting classifications of pathogenicity
JPH2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
JPH2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
JPH2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
JPH2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
JPH2
(A396T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
JPH2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
JPH2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
JPH2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
JPH2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
JPH2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JPH2
(G505S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
JPH2
(S165F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
GPathogenic
JPH2
(Y141H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
JPH2
(S101R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
GPathogenic
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