Related gene-specific medical variations for Gene (Select 200576) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324912	NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)	PIKFYVE (S215* +1 more)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GLikely pathogenic
Select item 895357	NM_015040.4(PIKFYVE):c.-134C>T	LOC129935518, PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 895356	NM_015040.4(PIKFYVE):c.-153A>T	LOC129935518, PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333882	NM_015040.4(PIKFYVE):c.-10+5G>A	LOC129935518, PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GLikely benign
Select item 223249	NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del)	PIKFYVE	Deletion	Fleck corneal dystrophy	GPathogenic

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