Related gene-specific medical variations for Gene (Select 23178) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208904	NM_015148.4(PASK):c.2245A>G (p.Ser749Gly)	LOC132088835, PASK (S714G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208903	NM_015148.4(PASK):c.2126C>T (p.Thr709Met)	LOC132088835, PASK (T674M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601227	NM_015148.4(PASK):c.1396G>A (p.Gly466Arg)	LOC129935998, PASK (G431R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378792	NM_015148.4(PASK):c.2227C>T (p.Leu743Phe)	LOC132088835, PASK (L708F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276897	NM_015148.4(PASK):c.2109C>A (p.Asp703Glu)	LOC132088835, PASK (D668E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227166	NM_015148.4(PASK):c.2129G>A (p.Gly710Asp)	LOC132088835, PASK (G675D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220376	NM_015148.4(PASK):c.1531A>G (p.Ile511Val)	PASK, LOC132088836 (I476V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 767878	NM_015148.4(PASK):c.1363C>T (p.Arg455Trp)	LOC129935998, PASK (R455W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748328	NM_015148.4(PASK):c.2165T>C (p.Leu722Pro)	LOC132088835, PASK (L687P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign