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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FRMD4A
Single nucleotide variant
(intron variant)
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
GBenign
FRMD4A
(S979L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FRMD4A
Microsatellite
(inframe_insertion)
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
+1 more
GBenign/Likely benign
FRMD4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FRMD4A
(G749fs +3 more)
Duplication
(frameshift variant)
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
GPathogenic
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