"GABRE-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043062	NM_004961.4(GABRE):c.1415G>A (p.Arg472His)	GABRE (R472H)	Single nucleotide variant (missense variant)	GABRE-related disorder	GLikely benign
Select item 3044081	NM_004961.4(GABRE):c.833G>C (p.Gly278Ala)	GABRE (G278A)	Single nucleotide variant (missense variant)	GABRE-related disorder	GLikely benign
Select item 2629441	NM_004961.4(GABRE):c.439G>A (p.Val147Met)	GABRE (V147M)	Single nucleotide variant (missense variant)	GABRE-related disorder	GUncertain significance

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