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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2A
(C1194Y)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(G1940E +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(F1956C +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
Deletion
Wiedemann-Steiner syndrome
GPathogenic
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