23533[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 3213022	NM_001142633.3(PIK3R5):c.2626A>G (p.Ser876Gly)	PIK3R5 (S490G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213021	NM_001142633.3(PIK3R5):c.2591T>G (p.Leu864Arg)	PIK3R5 (L478R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 211906	NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)	PIK3R5 (P853S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 2354136	NM_001142633.3(PIK3R5):c.2530A>G (p.Ser844Gly)	PIK3R5 (S457G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327032	NM_001142633.3(PIK3R5):c.2496-46A>G	PIK3R5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2590113	NM_001142633.3(PIK3R5):c.2426G>C (p.Gly809Ala)	PIK3R5 (G808A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1030201	NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser)	PIK3R5 (G423S +3 more)	Single nucleotide variant (missense variant)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 3306638	NM_001142633.3(PIK3R5):c.2393C>T (p.Ser798Leu)	PIK3R5 (S412L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327033	NM_001142633.3(PIK3R5):c.2383-27T>C	PIK3R5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3047480	NM_001142633.3(PIK3R5):c.2361A>G (p.Lys787=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2593020	NM_001142633.3(PIK3R5):c.2321C>T (p.Thr774Met)	PIK3R5 (T388M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 257557	NM_001142633.3(PIK3R5):c.2299+18T>G	PIK3R5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257556	NM_001142633.3(PIK3R5):c.2299+13G>A	PIK3R5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 496952	NM_001142633.3(PIK3R5):c.2281C>T (p.Arg761Trp)	PIK3R5 (R761W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647460	NM_001142633.3(PIK3R5):c.2259C>T (p.Ser753=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746553	NM_001142633.3(PIK3R5):c.2256C>T (p.Thr752=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233794	NM_001142633.3(PIK3R5):c.2207G>T (p.Gly736Val)	PIK3R5 (G349V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790713	NM_001142633.3(PIK3R5):c.2205+10G>A	PIK3R5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2382505	NM_001142633.3(PIK3R5):c.2154C>G (p.Ile718Met)	PIK3R5 (I331M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213020	NM_001142633.3(PIK3R5):c.2077C>T (p.His693Tyr)	PIK3R5 (H693Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213019	NM_001142633.3(PIK3R5):c.2062A>G (p.Thr688Ala)	PIK3R5 (T302A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532070	NM_001142633.3(PIK3R5):c.2060C>T (p.Thr687Met)	PIK3R5 (T300M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213018	NM_001142633.3(PIK3R5):c.1955T>C (p.Leu652Pro)	PIK3R5 (L265P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458898	NM_001142633.3(PIK3R5):c.1937A>G (p.Glu646Gly)	PIK3R5 (E259G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042728	NM_001142633.3(PIK3R5):c.1905+5G>A	PIK3R5	Single nucleotide variant (intron variant)	PIK3R5-related disorder	GLikely benign
Select item 48651	NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)	PIK3R5 (P629S +1 more)	Single nucleotide variant (missense variant)	Ataxia with oculomotor apraxia type 3 +1 more	GConflicting classifications of pathogenicity
Select item 773065	NM_001142633.3(PIK3R5):c.1845C>T (p.Asp615=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715692	NM_001142633.3(PIK3R5):c.1791C>T (p.Thr597=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602974	NM_001142633.3(PIK3R5):c.1768G>A (p.Ala590Thr)	PIK3R5 (A204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289695	NM_001142633.3(PIK3R5):c.1754A>T (p.Asp585Val)	PIK3R5 (D199V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389837	NM_001142633.3(PIK3R5):c.1727G>A (p.Arg576Gln)	PIK3R5 (R190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589244	NM_001142633.3(PIK3R5):c.1715G>C (p.Cys572Ser)	PIK3R5 (C572S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778681	NM_001142633.3(PIK3R5):c.1681G>A (p.Val561Met)	PIK3R5 (V175M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3213017	NM_001142633.3(PIK3R5):c.1675G>A (p.Val559Met)	PIK3R5 (V173M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598051	NM_001142633.3(PIK3R5):c.1649G>A (p.Arg550Gln)	PIK3R5 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3239268	NM_001142633.3(PIK3R5):c.1633C>T (p.Arg545Cys)	PIK3R5 (R159C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306637	NM_001142633.3(PIK3R5):c.1627A>G (p.Asn543Asp)	PIK3R5 (N543D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791561	NM_001142633.3(PIK3R5):c.1610A>G (p.Asn537Ser)	PIK3R5 (N151S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528499	NM_001142633.3(PIK3R5):c.1576C>T (p.Arg526Trp)	PIK3R5 (R140W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 257555	NM_001142633.3(PIK3R5):c.1572C>T (p.Ser524=)	PIK3R5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2647461	NM_001142633.3(PIK3R5):c.1548G>A (p.Thr516=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213016	NM_001142633.3(PIK3R5):c.1492C>T (p.Arg498Cys)	PIK3R5 (R112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269238	NM_001142633.3(PIK3R5):c.1453G>A (p.Gly485Ser)	PIK3R5 (G99S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3257539	NM_001142633.3(PIK3R5):c.1440C>T (p.Pro480=)	PIK3R5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213015	NM_001142633.3(PIK3R5):c.1423C>T (p.Arg475Cys)	PIK3R5 (R475C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525859	NM_001142633.3(PIK3R5):c.1415G>A (p.Arg472Gln)	PIK3R5 (R472Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241499	NM_001142633.3(PIK3R5):c.1393G>A (p.Glu465Lys)	PIK3R5 (E465K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027493	NM_001142633.3(PIK3R5):c.1364G>A (p.Arg455Gln)	PIK3R5 (R455Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2607846	NM_001142633.3(PIK3R5):c.1334G>C (p.Gly445Ala)	PIK3R5 (G445A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515891	NM_001142633.3(PIK3R5):c.1322G>A (p.Arg441Gln)	PIK3R5 (R441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213014	NM_001142633.3(PIK3R5):c.1274A>G (p.Tyr425Cys)	PIK3R5 (Y39C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213013	NM_001142633.3(PIK3R5):c.1244G>A (p.Arg415His)	PIK3R5 (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543114	NM_001142633.3(PIK3R5):c.1232G>A (p.Arg411His)	PIK3R5 (R25H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384082	NM_001142633.3(PIK3R5):c.1231C>T (p.Arg411Cys)	PIK3R5 (R25C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1031877	NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser)	PIK3R5 (P403S +1 more)	Single nucleotide variant (missense variant)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 3306635	NM_001142633.3(PIK3R5):c.1159A>G (p.Met387Val)	PIK3R5 (M387V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250552	NM_001142633.3(PIK3R5):c.1115C>T (p.Ser372Leu)	PIK3R5 (S372L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 +2 more	GBenign
Select item 2235460	NM_001142633.3(PIK3R5):c.1081C>T (p.Leu361Phe)	PIK3R5 (L361F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779454	NM_001142633.3(PIK3R5):c.1076T>C (p.Leu359Ser)	PIK3R5 (L359S)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not provided +2 more	GBenign
Select item 755865	NM_001142633.3(PIK3R5):c.1035C>T (p.Ser345=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3306636	NM_001142633.3(PIK3R5):c.1012G>A (p.Gly338Arg)	PIK3R5 (G338R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 +2 more	GBenign
Select item 2460662	NM_001142633.3(PIK3R5):c.1006A>G (p.Thr336Ala)	PIK3R5 (T336A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647462	NM_001142633.3(PIK3R5):c.963A>T (p.Glu321Asp)	PIK3R5 (E321D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2239059	NM_001142633.3(PIK3R5):c.955G>A (p.Asp319Asn)	PIK3R5 (D319N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 +2 more	GBenign
Select item 3213025	NM_001142633.3(PIK3R5):c.928G>C (p.Glu310Gln)	PIK3R5 (E310Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 713209	NM_001142633.3(PIK3R5):c.855C>T (p.Val285=)	PIK3R5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 +2 more	GBenign
Select item 3213024	NM_001142633.3(PIK3R5):c.814A>G (p.Thr272Ala)	PIK3R5 (T272A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2589337	NM_001142633.3(PIK3R5):c.752G>A (p.Arg251Gln)	PIK3R5 (R251Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2510002	NM_001142633.3(PIK3R5):c.729C>G (p.Ile243Met)	PIK3R5 (I243M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367216	NM_001142633.3(PIK3R5):c.700G>A (p.Ala234Thr)	PIK3R5 (A234T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283106	NM_001142633.3(PIK3R5):c.667C>G (p.Leu223Val)	PIK3R5 (L223V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1327034	NM_001142633.3(PIK3R5):c.657+41T>C	PIK3R5	Single nucleotide variant (intron variant)	Ataxia with oculomotor apraxia type 3 +1 more	GBenign
Select item 496953	NM_001142633.3(PIK3R5):c.631G>A (p.Val211Ile)	PIK3R5 (V211I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 717559	NM_001142633.3(PIK3R5):c.597C>T (p.His199=)	PIK3R5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 211907	NM_001142633.3(PIK3R5):c.583A>G (p.Thr195Ala)	PIK3R5 (T195A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3213023	NM_001142633.3(PIK3R5):c.559C>T (p.His187Tyr)	PIK3R5 (H187Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386012	NM_001142633.3(PIK3R5):c.556G>A (p.Gly186Arg)	PIK3R5 (G186R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1032660	NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His)	PIK3R5 (R157H)	Single nucleotide variant (missense variant +1 more)	Ataxia with oculomotor apraxia type 3	GUncertain significance
Select item 2317363	NM_001142633.3(PIK3R5):c.469C>G (p.Arg157Gly)	PIK3R5 (R157G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145849	GRCh38/hg38 17p13.1(chr17:8898174-9088908)x3	LOC130060268, LOC130060269 +16 more	Copy number gain	See cases	GLikely benign
Select item 2371005	NM_001142633.3(PIK3R5):c.394G>A (p.Ala132Thr)	PIK3R5 (A132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1327035	NM_001142633.3(PIK3R5):c.205-21C>T	PIK3R5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2208929	NM_001142633.3(PIK3R5):c.166C>T (p.Leu56Phe)	PIK3R5 (L56F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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