Related gene-specific medical variations for Gene (Select 246744) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597510	NM_001007532.3(STH):c.256A>G (p.Asn86Asp)	MAPT, STH (N86D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2397123	NM_001007532.3(STH):c.5G>T (p.Ser2Ile)	STH, MAPT (S2I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387091	NM_001007532.3(STH):c.194T>C (p.Val65Ala)	STH, MAPT (V65A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371666	NM_001007532.3(STH):c.368C>T (p.Ala123Val)	STH, MAPT (A123V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2259157	NM_001007532.3(STH):c.335C>A (p.Ala112Asp)	STH, MAPT (A112D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218021	NM_001007532.3(STH):c.65C>T (p.Pro22Leu)	STH, MAPT (P22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217588	NM_001007532.3(STH):c.74T>C (p.Ile25Thr)	MAPT, STH (I25T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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