Related gene-specific medical variations for Gene (Select 23533) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442065	NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)	PIK3R5 (R159H +1 more)	Single nucleotide variant (missense variant)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 2434864	NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)	PIK3R5 (V394del +3 more)	Microsatellite (inframe_deletion)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 2434863	NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)	PIK3R5 (T465M +3 more)	Single nucleotide variant (missense variant)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 2434862	NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)	PIK3R5 (N398S +3 more)	Single nucleotide variant (missense variant)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 446029	NM_001142633.3(PIK3R5):c.2554A>G (p.Thr852Ala)	PIK3R5 (T852A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257555	NM_001142633.3(PIK3R5):c.1572C>T (p.Ser524=)	PIK3R5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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