ClinVar for MedGen (Select 356331) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031326	NM_001312909.2(FAM111A):c.533C>T (p.Ser178Leu)	FAM111A (S178L)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GUncertain significance
Select item 1031325	NM_001312909.2(FAM111A):c.1818G>A (p.Met606Ile)	FAM111A (M606I)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GUncertain significance
Select item 982416	NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe)	FAM111A, LOC130005740 (I311F)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GLikely pathogenic
Select item 930855	NM_001312909.2(FAM111A):c.1138A>G (p.Ile380Val)	FAM111A (I380V)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GUncertain significance
Select item 708105	NM_001312909.2(FAM111A):c.1758G>A (p.Lys586=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 56815	NM_001312909.2(FAM111A):c.1579C>A (p.Pro527Thr)	FAM111A (P527T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 56814	NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala)	FAM111A, LOC130005740 (T338A)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GPathogenic/Likely pathogenic
Select item 56813	NM_001312909.2(FAM111A):c.1583A>G (p.Asp528Gly)	FAM111A (D528G)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GPathogenic/Likely pathogenic
Select item 56811	NM_001312909.2(FAM111A):c.1020TTC[2] (p.Ser343del)	FAM111A, LOC130005740 (S343del)	Microsatellite (inframe_deletion)	Autosomal dominant Kenny-Caffey syndrome +2 more	GPathogenic/Likely pathogenic
Select item 56810	NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	FAM111A (R569H)	Single nucleotide variant (missense variant)	Osteocraniostenosis +3 more	GPathogenic/Likely pathogenic