"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987473	NM_002055.5(GFAP):c.1240del (p.Glu414fs)	GFAP (E414fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 66428	NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)	GFAP, LOC130060994 (L357P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1801329	NM_002055.5(GFAP):c.368T>C (p.Leu123Pro)	GFAP (L123P)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic

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