"Ambry Genetics"[submitter] AND "LOC130004255"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2394561	NM_005271.5(GLUD1):c.125A>C (p.Gln42Pro)	GLUD1, LOC130004255 +1 more (Q42P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1935562	NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)	GLUD1, LOC130004255 +1 more (Q36R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1112781	NM_005271.5(GLUD1):c.102G>C (p.Arg34=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2301890	NM_005271.5(GLUD1):c.100C>G (p.Arg34Gly)	GLUD1, LOC130004255 +1 more (R34G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2450846	NM_005271.5(GLUD1):c.87G>T (p.Leu29Phe)	GLUD1, LOC130004255 +1 more (L29F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243210	NM_005271.5(GLUD1):c.73G>T (p.Asp25Tyr)	GLUD1, LOC130004255 +1 more (D25Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281667	NM_005271.5(GLUD1):c.25C>T (p.Leu9=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign

ClinVar