"Athena Diagnostics"[submitter] AND "GLUD1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129163	NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 259739	NM_005271.5(GLUD1):c.1403-11dup	GLUD1	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129162	NM_005271.5(GLUD1):c.1060-10T>A	GLUD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 447454	NM_005271.5(GLUD1):c.956A>G (p.Tyr319Cys)	GLUD1 (Y319C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 129164	NM_005271.5(GLUD1):c.942A>G (p.Leu314=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 585939	NM_005271.5(GLUD1):c.921+15A>C	GLUD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 418235	NM_005271.5(GLUD1):c.646+16_646+17del	GLUD1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 585938	NM_005271.5(GLUD1):c.585T>C (p.Asp195=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome +2 more	GBenign/Likely benign
Select item 785322	NM_005271.5(GLUD1):c.393C>G (p.Val131=)	GLUD1, LOC130004254	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 585937	NM_005271.5(GLUD1):c.195C>T (p.Asn65=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome +2 more	GLikely benign