Related gene-specific medical variations for Gene (Select 84069) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215178	NM_032129.3(PLEKHN1):c.44G>C (p.Arg15Pro)	LOC129929066, PLEKHN1 (R15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594813	NM_032129.3(PLEKHN1):c.43C>T (p.Arg15Trp)	LOC129929066, PLEKHN1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352765	NM_032129.3(PLEKHN1):c.53T>C (p.Phe18Ser)	LOC129929066, PLEKHN1 (F18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340688	NM_032129.3(PLEKHN1):c.23C>T (p.Pro8Leu)	LOC129929066, PLEKHN1 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782834	NM_032129.3(PLEKHN1):c.12C>A (p.Ser4Arg)	LOC129929066, PLEKHN1 (S4R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782833	NM_032129.3(PLEKHN1):c.11G>A (p.Ser4Asn)	LOC129929066, PLEKHN1 (S4N)	Single nucleotide variant (missense variant)	not provided	GBenign

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