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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH9
(D1941fs)
Deletion
(frameshift variant)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GPathogenic
MYH9
(R1933*)
Single nucleotide variant
(nonsense)
MYH9-related disorder
+2 more
GPathogenic
MYH9
(E1841K)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+3 more
GPathogenic/Likely pathogenic
MYH9
(D1447V)
Single nucleotide variant
(missense variant)
MYH9-related disorder
GLikely pathogenic
MYH9
(D1424Y)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+1 more
GPathogenic
MYH9
(D1424N)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+5 more
GPathogenic/Likely pathogenic
MYH9
(D1424H)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GPathogenic
MYH9
(R1165L)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Gnot provided
MYH9
(R1165C)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+4 more
GPathogenic
MYH9
(R705H)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
+1 more
GPathogenic/Likely pathogenic
MYH9
(R702H)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+2 more
GPathogenic/Likely pathogenic
MYH9
(R702C)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+3 more
GPathogenic
MYH9
(S96L)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+2 more
GPathogenic/Likely pathogenic
MYH9
(N93K)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+1 more
GPathogenic
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