"PreventionGenetics, part of Exact Sciences"[submitter] AND "PIK3R5"[g - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047480	NM_001142633.3(PIK3R5):c.2361A>G (p.Lys787=)	PIK3R5	Single nucleotide variant (synonymous variant)	PIK3R5-related disorder	GLikely benign
Select item 257557	NM_001142633.3(PIK3R5):c.2299+18T>G	PIK3R5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257556	NM_001142633.3(PIK3R5):c.2299+13G>A	PIK3R5	Single nucleotide variant (intron variant)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 3042728	NM_001142633.3(PIK3R5):c.1905+5G>A	PIK3R5	Single nucleotide variant (intron variant)	PIK3R5-related disorder	GLikely benign
Select item 715692	NM_001142633.3(PIK3R5):c.1791C>T (p.Thr597=)	PIK3R5	Single nucleotide variant (synonymous variant)	PIK3R5-related disorder +1 more	GBenign/Likely benign
Select item 257555	NM_001142633.3(PIK3R5):c.1572C>T (p.Ser524=)	PIK3R5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 130136	NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 779454	NM_001142633.3(PIK3R5):c.1076T>C (p.Leu359Ser)	PIK3R5 (L359S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129893	NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 129892	NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 129895	NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 3047549	NM_001142633.3(PIK3R5):c.895+10C>T	PIK3R5	Single nucleotide variant (intron variant)	PIK3R5-related disorder	GLikely benign
Select item 3046513	NM_001142633.3(PIK3R5):c.861G>A (p.Arg287=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	PIK3R5-related disorder	GLikely benign
Select item 129894	NM_001142633.3(PIK3R5):c.837C>T (p.His279=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 3046620	NM_001142633.3(PIK3R5):c.780G>C (p.Val260=)	PIK3R5	Single nucleotide variant (synonymous variant +2 more)	PIK3R5-related disorder	GLikely benign
Select item 3053541	NM_001142633.3(PIK3R5):c.18G>A (p.Thr6=)	PIK3R5	Single nucleotide variant (synonymous variant +2 more)	PIK3R5-related disorder	GLikely benign