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Items: 1 to 100 of 176

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYH10
(S1972T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(L1946P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1944H +3 more)
Single nucleotide variant
(missense variant)
Jaw-winking syndrome
GUncertain significance
MYH10
(R1952W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1971P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(S1939fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MYH10
(R1930W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH10
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH10
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH10
(Y1868* +3 more)
Duplication
(nonsense)
not provided
GUncertain significance
MYH10
(A1874T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1863Q +3 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
MYH10
(D1860N +3 more)
Single nucleotide variant
(missense variant)
MYH10-related disorder
GUncertain significance
MYH10
(R1846H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1848T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
Deletion
(inframe_deletion)
MYH10-related disorder
GUncertain significance
MYH10
(L1830R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(L1830F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(K1813M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(Q1789fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
MYH10
(R1818H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(N1785K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(S1778I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(V1766M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
Single nucleotide variant
(intron variant)
MYH10-related disorder
GLikely benign
MYH10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH10
Single nucleotide variant
(synonymous variant)
MYH10-related disorder
GLikely benign
MYH10
(F1768L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(D1757N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(E1751G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1768Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH10
(R1764C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1741L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1736V +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYH10
(A1757T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(T1718P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYH10
(E1709G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(Q1739E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1704Q +3 more)
Single nucleotide variant
(missense variant)
Jaw-winking syndrome
GUncertain significance
MYH10
Insertion
(intron variant)
not provided
GBenign
MYH10
Single nucleotide variant
(intron variant)
MYH10-related disorder
GLikely benign
MYH10
(I1671V +3 more)
Single nucleotide variant
(missense variant)
MYH10-related disorder
GUncertain significance
MYH10
(R1665H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1659H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1652P +3 more)
Single nucleotide variant
(missense variant)
MYH10-related disorder
GUncertain significance
MYH10
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH10
(E1630K +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH10
(L1626fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
MYH10
(R1612Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH10
(R1599Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH10
Single nucleotide variant
(splice donor variant)
See cases
+1 more
GConflicting classifications of pathogenicity
MYH10
(T1591I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(F1586L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(M1581R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(L1560P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(R1544W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1510* +3 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYH10
Single nucleotide variant
(synonymous variant)
MYH10-related disorder
GLikely benign
MYH10
(R1483Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1483W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(R1502P +3 more)
Single nucleotide variant
(missense variant)
Congenital ocular coloboma
+6 more
GPathogenic
MYH10
(Y1467H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(V1442I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MYH10
(R1440H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(R1407H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
Single nucleotide variant
(synonymous variant)
MYH10-related disorder
GLikely benign
MYH10
(K1396Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(I1387V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(D1383N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(D1383Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
Single nucleotide variant
(synonymous variant)
MYH10-related disorder
GLikely benign
MYH10
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
MYH10
(E1353Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(Q1340H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(I1348M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(I1348V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(L1323V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYH10
(Q1321* +3 more)
Single nucleotide variant
(nonsense)
Complex neurodevelopmental disorders
GPathogenic
MYH10
(K1308N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(G1312V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(K1302E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(K1301E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1282T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
(Q1262R +3 more)
Single nucleotide variant
(missense variant)
MYH10-related disorder
GUncertain significance
MYH10
(A1259T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1246V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(T1231A +3 more)
Single nucleotide variant
(missense variant)
MYH10-related disorder
GLikely benign
MYH10
(G1237V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1202T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(K1180T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH10
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
MYH10
(Q1124H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(A1118S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYH10
(G1094A +3 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
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