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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH8, MYHAS
(T547M)
Single nucleotide variant
(missense variant)
Carney complex - trismus - pseudocamptodactyly syndrome
GUncertain significance
MYH8, MYHAS
(V1575A)
Single nucleotide variant
(missense variant)
Carney complex - trismus - pseudocamptodactyly syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Carney complex - trismus - pseudocamptodactyly syndrome
+3 more
GBenign/Likely benign
MYH8, MYHAS
(I160N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
MYH8, MYHAS
(I326T)
Single nucleotide variant
(missense variant)
Carney complex - trismus - pseudocamptodactyly syndrome
+2 more
GUncertain significance
LOC126862494, MYH8
+1 more
(L1107fs)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(R1292*)
Single nucleotide variant
(nonsense)
Carney complex - trismus - pseudocamptodactyly syndrome
+1 more
GUncertain significance
MYH8, MYHAS
(M1229T)
Single nucleotide variant
(missense variant)
Hecht syndrome
+4 more
GBenign/Likely benign
MYH8, MYHAS
(R674Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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