Related gene-specific medical variations for Gene (Select 2564) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701710	NM_004961.4(GABRE):c.1177C>T (p.Arg393Cys)	GABRE (R393C)	Single nucleotide variant (missense variant)	GABRE-related epilepsy	GUncertain significance
Select item 599549	NM_004961.4(GABRE):c.399C>A (p.Tyr133Ter)	GABRE (Y133*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 100849	NM_004961.4(GABRE):c.975C>A (p.Thr325=)	GABRE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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