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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H3-3B
(R18C)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GLikely pathogenic
H3-3B
(L110V)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GUncertain significance
H3-3B
(Q126K)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GLikely pathogenic
H3-3B
(T12I)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GLikely pathogenic
H3-3B
(T23R)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GLikely pathogenic
H3-3B
(Q126R)
Single nucleotide variant
(missense variant)
H3-3B-related disorder
+1 more
GPathogenic/Likely pathogenic
H3-3B
(P122R)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GPathogenic
H3-3B
(A30P)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
GPathogenic
H3-3B
(I52N)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 2
+5 more
GPathogenic/Likely pathogenic
H3-3B
(R9C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
H3-3B
(A8V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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