Related gene-specific medical variations for Gene (Select 10842) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340086	NM_006658.5(PPP1R17):c.169G>A (p.Glu57Lys)	PDE1C, PPP1R17 (E57K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia	GUncertain significance
Select item 3309387	NM_006658.5(PPP1R17):c.358C>T (p.Pro120Ser)	PDE1C, PPP1R17 (P69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309386	NM_006658.5(PPP1R17):c.259A>G (p.Lys87Glu)	PDE1C, PPP1R17 (K36E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309385	NM_006658.5(PPP1R17):c.53A>G (p.Asp18Gly)	PDE1C, PPP1R17 (D18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309384	NM_006658.5(PPP1R17):c.438C>A (p.Asp146Glu)	PDE1C, PPP1R17 (D146E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217539	NM_006658.5(PPP1R17):c.427G>A (p.Val143Met)	PDE1C, PPP1R17 (V92M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217538	NM_006658.5(PPP1R17):c.401T>C (p.Leu134Pro)	PDE1C, PPP1R17 (L83P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548365	NM_006658.5(PPP1R17):c.50T>C (p.Leu17Pro)	PDE1C, PPP1R17 (L17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411879	NM_006658.5(PPP1R17):c.186A>C (p.Lys62Asn)	PDE1C, PPP1R17 (K62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335210	NM_006658.5(PPP1R17):c.233C>T (p.Pro78Leu)	PDE1C, PPP1R17 (P78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268207	NM_006658.5(PPP1R17):c.303C>G (p.Ile101Met)	PDE1C, PPP1R17 (I101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222682	NM_006658.5(PPP1R17):c.63C>A (p.Asp21Glu)	PDE1C, PPP1R17 (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403336	NM_006658.5(PPP1R17):c.29T>G (p.Leu10Arg)	PDE1C, PPP1R17 (L10R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 5861	PPP1R17, -1323T-C	PPP1R17	Single nucleotide variant	Hypercholesterolemia, susceptibility to	Grisk factor