ClinVar for MedGen (Select 1683283) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064520	NM_007144.3(PCGF2):c.1026del (p.Pro342_Leu343insTer)	CISD3, PCGF2	Deletion (3 prime UTR variant +1 more)	Wolfram syndrome 2 +1 more	GUncertain significance
Select item 2672205	NM_007144.3(PCGF2):c.147dup (p.Asn50fs)	PCGF2 (N50fs)	Duplication (frameshift variant)	Turnpenny-fry syndrome	GUncertain significance
Select item 2434608	NM_007144.3(PCGF2):c.629A>G (p.Asp210Gly)	PCGF2 (D210G)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome	GUncertain significance
Select item 1918480	NM_007144.3(PCGF2):c.661G>A (p.Gly221Arg)	CISD3, PCGF2 (G221R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1679580	NM_007144.3(PCGF2):c.592G>A (p.Glu198Lys)	PCGF2 (E198K)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome +1 more	GUncertain significance
Select item 1326991	NM_007144.3(PCGF2):c.435C>T (p.Asp145=)	PCGF2	Single nucleotide variant (synonymous variant)	Turnpenny-fry syndrome +1 more	GBenign
Select item 624617	NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser)	PCGF2 (P65S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 619193	NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)	PCGF2 (P65L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic

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