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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H3-3A
(G45D)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
GUncertain significance
H3-3A
(T46N)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
GUncertain significance
H3-3A
(R18G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
H3-3A
(R129H)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
+5 more
GPathogenic/Likely pathogenic
H3-3A
(M121I)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
GPathogenic
H3-3A
(G91R)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
GUncertain significance
H3-3A
(R41C)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
+5 more
GPathogenic/Likely pathogenic
H3-3A
(T46I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
H3-3A
(N109S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely pathogenic
H3-3A
(R84G)
Single nucleotide variant
(missense variant)
Bryant-Li-Bhoj neurodevelopmental syndrome 1
+1 more
GLikely pathogenic
H3-3A
(P122L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
H3-3A
(Q126R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
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