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Items: 1 to 100 of 192

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
LOC126861897, MHRT
+1 more
(S1735T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126861897, MHRT
+1 more
Deletion
(intron variant)
not provided
GBenign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+3 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
(R1712Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GPathogenic
LOC126861897, MHRT
+1 more
(R1712W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GLikely pathogenic
LOC126861897, MHRT
+1 more
(E1711K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC126861897, MHRT
+1 more
(E1708V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC126861897, MHRT
+1 more
(I1707T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
(Q1704*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GBenign
LOC126861897, MHRT
+1 more
(R1697W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
(E1696A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GLikely benign
MHRT, LOC126861897
+1 more
(V1691M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
(R1689H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1689C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+10 more
GUncertain significance
LOC126861897, MHRT
+1 more
(N1679K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+8 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1677H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary dilated cardiomyopathy
+10 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1677C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(R1676Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
(V1674L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
(I1673V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
(I1671V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(E1669*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
(K1668E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
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
(V1661I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
(A1660E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+8 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GBenign
LOC126861897, MHRT
+1 more
(D1652Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+10 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+7 more
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
(S1645R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MHRT, MYH7
+1 more
(A1639V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+8 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
(A1637T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Left ventricular noncompaction cardiomyopathy
+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
(R1634H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+10 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1634S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1634C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
(A1632T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+10 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
(E1624D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GLikely benign
LOC126861897, MHRT
+1 more
(L1622F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GUncertain significance
LOC126861897, MHRT
+1 more
(E1619K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(M1618T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
(K1617del)
Microsatellite
(inframe_deletion +1 more)
MYH7-related skeletal myopathy
+3 more
GPathogenic/Likely pathogenic
LOC126861897, MHRT
+1 more
(R1613K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
(A1611V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
LOC126861897, MHRT
+1 more
(A1611S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
Indel
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC126861897, MHRT
+1 more
(E1610Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+3 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
(R1608H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1606H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+7 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1606C)
Single nucleotide variant
(non-coding transcript variant +1 more)
MYH7-related skeletal myopathy
+8 more
GUncertain significance
LOC126861897, MHRT
+1 more
(A1603T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+9 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 1
+12 more
GBenign/Likely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GLikely benign
LOC126861897, MHRT
+1 more
(S1600F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GBenign
LOC126861897, MHRT
+1 more
(S1596L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 1
+4 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(L1591P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
LOC126861897, MHRT
+1 more
(R1588P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
LOC126861897, MHRT
+1 more
(R1588S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
(K1575N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GLikely benign
LOC126861897, MHRT
+1 more
(E1573K)
Single nucleotide variant
(non-coding transcript variant +1 more)
MYH7-related disorder
+7 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GBenign
LOC126861897, MHRT
+1 more
(A1570E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
(Q1567H)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
MHRT, MYH7
+1 more
(A1561P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1560P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
LOC126861897, MHRT
+1 more
(R1560Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(E1555G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
LOC126861897, MHRT
+1 more
(E1554K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126861897, MHRT
+1 more
(S1550F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH7, MHRT
+1 more
Deletion
(intron variant)
not provided
GLikely benign
MHRT, LOC126861897
+1 more
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MHRT, MYH7
Single nucleotide variant
(intron variant)
not provided
GBenign
MHRT, MYH7
Single nucleotide variant
(intron variant)
not provided
GBenign
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