Related gene-specific medical variations for Gene (Select 114825) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184053	NM_003314.3(TTC1):c.813C>G (p.Ile271Met)	PWWP2A, TTC1 (I271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184052	NM_003314.3(TTC1):c.677G>A (p.Arg226Lys)	PWWP2A, TTC1 (R226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599797	NM_003314.3(TTC1):c.643A>G (p.Ile215Val)	PWWP2A, TTC1 (I215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487116	NM_003314.3(TTC1):c.740T>C (p.Met247Thr)	PWWP2A, TTC1 (M247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471753	NM_003314.3(TTC1):c.605C>T (p.Thr202Met)	PWWP2A, TTC1 (T202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289238	NM_003314.3(TTC1):c.772G>A (p.Val258Ile)	PWWP2A, TTC1 (V258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402170	NM_003314.3(TTC1):c.784T>G (p.Phe262Val)	PWWP2A, TTC1 (F262V)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic

ClinVar