Related gene-specific medical variations for Gene (Select 9622) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065689	NM_004917.5(KLK4):c.224+2T>C	KLK4	Single nucleotide variant (5 prime UTR variant +2 more)	Amelogenesis imperfecta type 2A1	GLikely pathogenic
Select item 1327589	NM_004917.5(KLK4):c.170C>A (p.Ser57Ter)	KLK4 (S57*)	Single nucleotide variant (5 prime UTR variant +2 more)	Amelogenesis imperfecta	GPathogenic
Select item 1327588	NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)	KLK4 (C118R +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta	GPathogenic

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