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Items: 1 to 100 of 767

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
ACSS2, ACTL10
+254 more
Copy number gain
See cases
GPathogenic
AAR2, ACSS2
+214 more
Copy number loss
See cases
GPathogenic
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
MYH7B
(D3E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(T22M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(P28T)
Single nucleotide variant
(missense variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(W29*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
Microsatellite
(intron variant)
not provided
GLikely benign
MYH7B
(R34*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYH7B
(E40K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYH7B
(Q41E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(A43T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(Y44fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(A47G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(A47V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(T59I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(T62A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(K66E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(K66N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
MYH7B
(V67M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(N79D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(M89T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MYH7B
(Y108F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(R110L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
(L119V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYH7B
(V137I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(A139V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(P150A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(A157V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(R166C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
(R168*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYH7B
(Q171K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(S172P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
(S179L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(R189Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(A195V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MYH7B
(V197I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(V197A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(A198T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(K206fs)
Microsatellite
(frameshift variant)
Hypertrophic cardiomyopathy 1
GPathogenic
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
(G203R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(P204L)
Single nucleotide variant
(missense variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYH7B
(K207R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(A208V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 1
GPathogenic
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
(T215M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7B
Duplication
(intron variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7B
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH7B
(D221G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(E225K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH7B
(N227S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7B
(G234A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH7B
(A236T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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