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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861898, MYH7
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
LOC126861898, MYH7
(A893V)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
LOC126861898, MYH7
(Q888*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GUncertain significance
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
LOC126861898, MYH7
(V878L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(R870L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
LOC126861898, MYH7
(R869H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely pathogenic
LOC126861898, MYH7
(R869C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
LOC126861898, MYH7
(A862G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
LOC126861898, MYH7
(E861G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
LOC126861898, MYH7
(R858C)
Single nucleotide variant
(missense variant)
MYH7-related skeletal myopathy
+10 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(K847E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
LOC126861898, MYH7
(E846Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Myosin storage myopathy
+8 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(S842N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(I836M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
LOC126861898, MYH7
(K835R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LOC126861898, MYH7
(W827R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126861898, MYH7
(V824I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(G823E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(F821S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC126861898, MYH7
(R819Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
LOC126861898, MYH7
(A797T)
Single nucleotide variant
(missense variant)
MYH7-related skeletal myopathy
+18 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(L796F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(S792P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126861898, MYH7
(R787H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely benign
LOC126861898, MYH7
(R787C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+7 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+9 more
GBenign/Likely benign
LOC126861898, MYH7
(D778E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(D778H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely pathogenic
LOC126861898, MYH7
(D778N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(G768R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
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