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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H4C3
(T74K)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GUncertain significance
H4C3
(K45*)
Single nucleotide variant
(nonsense)
Tessadori-van Haaften neurodevelopmental syndrome 1
GUncertain significance
H4C3
(K92E)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GPathogenic
H4C3
(K92R)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GLikely pathogenic
H4C11
(K92Q)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GPathogenic
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