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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUPT16H
(R693*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GLikely pathogenic
SUPT16H
(I44M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
LOC126861887, SUPT16H
(S1031F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
SUPT16H
(A873T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
SUPT16H
(V325M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
SUPT16H
(L795V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
SUPT16H
(A592V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
SUPT16H
(N364S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GUncertain significance
SUPT16H
(R847W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GLikely pathogenic
SUPT16H
(L432P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GPathogenic
SUPT16H
(N571S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GPathogenic
SUPT16H
(R734W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
GLikely pathogenic
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