C0270726[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323608	NM_002055.5(GFAP):c.*16G>A	GFAP	Single nucleotide variant (3 prime UTR variant)	Alexander disease +1 more	GBenign/Likely benign
Select item 323610	NM_002055.5(GFAP):c.1171+5G>A	GFAP	Single nucleotide variant (synonymous variant +1 more)	Alexander disease	GUncertain significance
Select item 1199219	NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys)	GFAP, LOC130060994 (E371K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16167	NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)	GFAP (R239C)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GPathogenic
Select item 323620	NM_002055.5(GFAP):c.462-8dup	GFAP	Duplication (intron variant)	Alexander disease +1 more	GBenign/Likely benign
Select item 323622	NM_002055.5(GFAP):c.381C>T (p.Leu127=)	GFAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66477	NM_002055.5(GFAP):c.259G>C (p.Val87Leu)	GFAP (V87L)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 16171	NM_002055.5(GFAP):c.235C>T (p.Arg79Cys)	GFAP (R79C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

ClinVar