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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM111A
(S178L)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GUncertain significance
FAM111A
(M606I)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GUncertain significance
FAM111A, LOC130005740
(I311F)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GLikely pathogenic
FAM111A
(I380V)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FAM111A
(P527T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FAM111A, LOC130005740
(T338A)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GPathogenic/Likely pathogenic
FAM111A
(D528G)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GPathogenic/Likely pathogenic
FAM111A, LOC130005740
(S343del)
Microsatellite
(inframe_deletion)
Autosomal dominant Kenny-Caffey syndrome
+2 more
GPathogenic/Likely pathogenic
FAM111A
(R569H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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