U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861897, MHRT
+1 more
(M1730I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
LOC126861897, MHRT
+1 more
(N1720D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(V1713M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(R1712Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GPathogenic
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GLikely benign
LOC126861897, MHRT
+1 more
(R1697G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(V1691M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
LOC126861897, MHRT
+1 more
(Q1682H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
MYH7, LOC126861897
+1 more
(R1677C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(I1673F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(R1662L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1662H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
(D1652Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
(A1637T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GLikely benign
MHRT, LOC126861897
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(M1635T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GLikely benign
LOC126861897, MHRT
+1 more
(E1610Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(R1608H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1606H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+7 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+13 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
(L1591Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126861897, MHRT
+1 more
(E1555K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
MHRT, MYH7
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GBenign/Likely benign
MHRT, MYH7
(E1548V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GUncertain significance
MHRT, MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GBenign/Likely benign
MHRT, MYH7
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 1
+7 more
GConflicting classifications of pathogenicity
MHRT, MYH7
(E1514G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MHRT, MYH7
(I1509M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
MHRT, MYH7
(R1500W)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+9 more
GPathogenic/Likely pathogenic
MHRT, MYH7
(T1497S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MHRT, MYH7
(L1495V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MHRT, MYH7
(H1494L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MHRT, MYH7
(K1485R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
MHRT, MYH7
(S1476F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
MHRT, MYH7
(E1468K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
MHRT, MYH7
(L1467V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MHRT, MYH7
(S1465L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
MHRT, MYH7
(K1459N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GLikely benign
MHRT, MYH7
(D1450N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MHRT, MYH7
(L1428S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
Format
Items per page
Sort by
Choose Destination