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Links from MedGen

Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH8, MYHAS
(D602N)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
MYHAS, MYH8
(I266T)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(3 prime UTR variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(3 prime UTR variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(P85L)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GUncertain significance
MYH8, MYHAS
(M93V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH8, MYHAS
(P102A)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GConflicting classifications of pathogenicity
MYHAS, MYH8
(W133C)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(K601N)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(I1383V)
Single nucleotide variant
(missense variant)
MYH8-related disorder
+2 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(A226T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(R284I)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(non-coding transcript variant +1 more)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYH8
+1 more
(L1051V)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
+1 more
GConflicting classifications of pathogenicity
MYHAS, LOC126862494
+1 more
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
+1 more
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(K1732E)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(5 prime UTR variant)
Hecht syndrome
+1 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(E320V)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(T345S)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GUncertain significance
MYH8, MYHAS
(I352L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(R20Q)
Single nucleotide variant
(missense variant)
Hecht syndrome
+2 more
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(E58Q)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(A384T)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(E528G)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYH8
+1 more
(G1157S)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(L1227R)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(C1252R)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
LOC126862493, MYH8
+1 more
(R1848Q)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126862493, MYH8
+1 more
(A1820V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(S48F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Carney complex - trismus - pseudocamptodactyly syndrome
+3 more
GBenign/Likely benign
MYH8, MYHAS
(D1605N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(N605K)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GBenign/Likely benign
MYH8, MYHAS
(I160N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
MYH8, MYHAS
(Q318H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(T1500M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MYH8, MYHAS
(I326T)
Single nucleotide variant
(missense variant)
Carney complex - trismus - pseudocamptodactyly syndrome
+2 more
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(splice donor variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(Q478*)
Single nucleotide variant
(nonsense)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(M496fs)
Deletion
(frameshift variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(L658*)
Single nucleotide variant
(nonsense)
Hecht syndrome
GUncertain significance
LOC126862493, MYH8
+1 more
(E1838A)
Single nucleotide variant
(missense variant)
Hecht syndrome
+2 more
GBenign/Likely benign
LOC126862494, MYH8
+1 more
(L1107fs)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
Single nucleotide variant
(5 prime UTR variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(5 prime UTR variant)
Hecht syndrome
GBenign
MYH8, MYHAS
Single nucleotide variant
(5 prime UTR variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(G68V)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(R193H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYHAS, MYH8
(A202V)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(T356I)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GUncertain significance
MYH8, MYHAS
(V423G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(E577D)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GBenign/Likely benign
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
+1 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(R706H)
Single nucleotide variant
(missense variant)
MYH8-related disorder
+1 more
GBenign/Likely benign
LOC126862494, MYH8
+1 more
(E931K)
Single nucleotide variant
(missense variant)
Hecht syndrome
+1 more
GUncertain significance
LOC126862494, MYH8
+1 more
(S996C)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYH8
+1 more
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYH8
+1 more
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYH8
+1 more
Single nucleotide variant
(synonymous variant)
Hecht syndrome
+1 more
GConflicting classifications of pathogenicity
LOC126862494, MYHAS
+1 more
(E1126Q)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYHAS
+1 more
(A1130S)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
LOC126862494, MYH8
+1 more
(A1184T)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(S1235G)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(A1335T)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(L1417V)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYHAS, MYH8
(R1478H)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(R1563H)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(A1580T)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(R1595K)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
(R1637H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH8, MYHAS
(R1665Q)
Single nucleotide variant
(missense variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(intron variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
+1 more
(K1812R)
Single nucleotide variant
(missense variant)
Hecht syndrome
GLikely benign
LOC126862493, MYH8
+1 more
(E1847K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYHAS, MYH8
Single nucleotide variant
(synonymous variant)
Hecht syndrome
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
MYH8, MYHAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
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