Related gene-specific medical variations for Gene (Select 29085) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306289	NM_014172.6(PHPT1):c.75C>G (p.Ile25Met)	LOC130003047, PHPT1 (I25M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470453	NM_014172.6(PHPT1):c.35T>C (p.Val12Ala)	LOC130003047, PHPT1 (V12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350595	NM_014172.6(PHPT1):c.13G>A (p.Asp5Asn)	LOC130003047, PHPT1 (D5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317842	NM_014172.6(PHPT1):c.134G>A (p.Arg45His)	LOC130003047, PHPT1 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274972	NM_014172.6(PHPT1):c.60C>G (p.Phe20Leu)	LOC130003047, PHPT1 (F20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777838	NM_014172.6(PHPT1):c.117G>C (p.Glu39Asp)	LOC130003047, PHPT1 (E39D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 711030	NM_014172.6(PHPT1):c.8T>C (p.Val3Ala)	LOC130003047, PHPT1 (V3A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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