Related gene-specific medical variations for Gene (Select 89801) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236582	NM_033215.5(PPP1R3F):c.828C>G (p.Asn276Lys)	PPP1R3F (N276K)	Single nucleotide variant (missense variant +1 more)	PPP1R3F Associated Neurodevelopmental Disorder	GUncertain significance
Select item 3217683	NM_033215.5(PPP1R3F):c.171G>T (p.Trp57Cys)	LOC130068282, PPP1R3F (W57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534488	NM_033215.5(PPP1R3F):c.89C>T (p.Ala30Val)	LOC130068282, PPP1R3F (A30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522159	NM_033215.5(PPP1R3F):c.40T>C (p.Ser14Pro)	LOC130068282, PPP1R3F (S14P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2466821	NM_033215.5(PPP1R3F):c.77C>T (p.Thr26Ile)	LOC130068282, PPP1R3F (T26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351800	NM_033215.5(PPP1R3F):c.167C>G (p.Pro56Arg)	LOC130068282, PPP1R3F (P56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206056	NM_033215.5(PPP1R3F):c.58G>A (p.Ala20Thr)	LOC130068282, PPP1R3F (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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