ClinVar for MedGen (Select 375800) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376461	NM_004699.4(FAM50A):c.394G>C (p.Glu132Gln)	FAM50A (E132Q)	Single nucleotide variant (missense variant)	Armfield syndrome	GUncertain significance
Select item 2444228	NM_004699.4(FAM50A):c.393C>T (p.Gly131=)	FAM50A	Single nucleotide variant (synonymous variant)	Armfield syndrome +1 more	GUncertain significance
Select item 1710418	NM_004699.4(FAM50A):c.634C>T (p.Arg212Trp)	FAM50A (R212W)	Single nucleotide variant (missense variant)	Armfield syndrome +1 more	GConflicting classifications of pathogenicity
Select item 872940	NM_004699.4(FAM50A):c.817C>T (p.Arg273Trp)	FAM50A (R273W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872939	NM_004699.4(FAM50A):c.616T>G (p.Trp206Gly)	FAM50A (W206G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872938	NM_004699.4(FAM50A):c.761A>G (p.Glu254Gly)	FAM50A (E254G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 872937	NM_004699.4(FAM50A):c.763G>A (p.Asp255Asn)	FAM50A (D255N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 872936	NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)	FAM50A (D255G)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic

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