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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171189	NM_001007532.3(STH):c.63G>T (p.Trp21Cys)	MAPT, STH (W21C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171188	NM_001007532.3(STH):c.355G>C (p.Gly119Arg)	MAPT, STH (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681568	NM_001007532.3(STH):c.81C>T (p.Cys27=)	MAPT, STH	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2597510	NM_001007532.3(STH):c.256A>G (p.Asn86Asp)	MAPT, STH (N86D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2397123	NM_001007532.3(STH):c.5G>T (p.Ser2Ile)	MAPT, STH (S2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387091	NM_001007532.3(STH):c.194T>C (p.Val65Ala)	MAPT, STH (V65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371666	NM_001007532.3(STH):c.368C>T (p.Ala123Val)	MAPT, STH (A123V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2259157	NM_001007532.3(STH):c.335C>A (p.Ala112Asp)	MAPT, STH (A112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218021	NM_001007532.3(STH):c.65C>T (p.Pro22Leu)	MAPT, STH (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217588	NM_001007532.3(STH):c.74T>C (p.Ile25Thr)	MAPT, STH (I25T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign