PIK3AP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 1465817	NM_152309.3(PIK3AP1):c.2387C>G (p.Pro796Arg)	PIK3AP1 (P796R)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1407144	NM_152309.3(PIK3AP1):c.2387C>A (p.Pro796His)	PIK3AP1 (P796H)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 474928	NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GBenign
Select item 1360489	NM_152309.3(PIK3AP1):c.2378C>T (p.Thr793Ile)	PIK3AP1 (T793I)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1385678	NM_152309.3(PIK3AP1):c.2369C>T (p.Thr790Ile)	PIK3AP1 (T790I)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 735437	NM_152309.3(PIK3AP1):c.2367G>A (p.Pro789=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1414381	NM_152309.3(PIK3AP1):c.2366C>T (p.Pro789Leu)	PIK3AP1 (P789L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1551922	NM_152309.3(PIK3AP1):c.2361-17C>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2911997	NM_152309.3(PIK3AP1):c.2360+19T>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1920256	NM_152309.3(PIK3AP1):c.2360+19T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1591470	NM_152309.3(PIK3AP1):c.2360+19T>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2036613	NM_152309.3(PIK3AP1):c.2360+15G>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1901500	NM_152309.3(PIK3AP1):c.2360+14T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1010512	NM_152309.3(PIK3AP1):c.2360+6A>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GUncertain significance
Select item 847053	NM_152309.3(PIK3AP1):c.2354C>T (p.Ser785Leu)	PIK3AP1 (S785L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1084139	NM_152309.3(PIK3AP1):c.2352C>T (p.Ala784=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1170324	NM_152309.3(PIK3AP1):c.2343G>A (p.Pro781=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GBenign
Select item 2889997	NM_152309.3(PIK3AP1):c.2342C>T (p.Pro781Leu)	PIK3AP1 (P781L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1063353	NM_152309.3(PIK3AP1):c.2339C>T (p.Pro780Leu)	PIK3AP1 (P780L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 474927	NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GBenign
Select item 1719366	NM_152309.3(PIK3AP1):c.2335G>C (p.Val779Leu)	PIK3AP1 (V779L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 707691	NM_152309.3(PIK3AP1):c.2335G>A (p.Val779Met)	PIK3AP1 (V779M)	Single nucleotide variant (missense variant)	Infantile spasms +1 more	GConflicting classifications of pathogenicity
Select item 1159709	NM_152309.3(PIK3AP1):c.2319C>G (p.Leu773=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 963571	NM_152309.3(PIK3AP1):c.2317C>T (p.Leu773Phe)	PIK3AP1 (L773F)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2317280	NM_152309.3(PIK3AP1):c.2311A>G (p.Met771Val)	PIK3AP1 (M771V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1368718	NM_152309.3(PIK3AP1):c.2305C>A (p.Pro769Thr)	PIK3AP1 (P769T)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1669185	NM_152309.3(PIK3AP1):c.2298T>C (p.Asp766=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 474926	NM_152309.3(PIK3AP1):c.2294T>C (p.Val765Ala)	PIK3AP1 (V765A)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2173114	NM_152309.3(PIK3AP1):c.2288C>A (p.Pro763Gln)	PIK3AP1 (P763Q)	Single nucleotide variant (missense variant)	Infantile spasms +1 more	GUncertain significance
Select item 1949750	NM_152309.3(PIK3AP1):c.2283C>T (p.Gly761=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 541746	NM_152309.3(PIK3AP1):c.2273G>A (p.Arg758His)	PIK3AP1 (R758H)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2907460	NM_152309.3(PIK3AP1):c.2272C>T (p.Arg758Cys)	PIK3AP1 (R758C)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 474925	NM_152309.3(PIK3AP1):c.2251G>T (p.Val751Phe)	PIK3AP1 (V751F)	Single nucleotide variant (missense variant)	Infantile spasms	GLikely benign
Select item 844080	NM_152309.3(PIK3AP1):c.2242-3T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GUncertain significance
Select item 1548407	NM_152309.3(PIK3AP1):c.2242-6del	PIK3AP1	Deletion (intron variant)	Infantile spasms	GLikely benign
Select item 2915712	NM_152309.3(PIK3AP1):c.2242-19C>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GBenign
Select item 1549542	NM_152309.3(PIK3AP1):c.2241+13A>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2070593	NM_152309.3(PIK3AP1):c.2241+6A>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GUncertain significance
Select item 725356	NM_152309.3(PIK3AP1):c.2238C>T (p.Asn746=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2849217	NM_152309.3(PIK3AP1):c.2237A>C (p.Asn746Thr)	PIK3AP1 (N746T)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1130465	NM_152309.3(PIK3AP1):c.2220C>T (p.Ser740=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1594919	NM_152309.3(PIK3AP1):c.2214G>T (p.Val738=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2488318	NM_152309.3(PIK3AP1):c.2210G>C (p.Ser737Thr)	PIK3AP1 (S737T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2742293	NM_152309.3(PIK3AP1):c.2205C>T (p.Leu735=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 957980	NM_152309.3(PIK3AP1):c.2198G>A (p.Arg733Gln)	PIK3AP1 (R733Q)	Single nucleotide variant (missense variant)	Infantile spasms +1 more	GUncertain significance
Select item 946389	NM_152309.3(PIK3AP1):c.2197C>T (p.Arg733Trp)	PIK3AP1 (R733W)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2023709	NM_152309.3(PIK3AP1):c.2196C>G (p.Thr732=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1124984	NM_152309.3(PIK3AP1):c.2187C>T (p.Arg729=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 474924	NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His)	PIK3AP1 (R729H)	Single nucleotide variant (missense variant)	PIK3AP1-related disorder +1 more	GBenign/Likely benign
Select item 963129	NM_152309.3(PIK3AP1):c.2185C>T (p.Arg729Cys)	PIK3AP1 (R729C)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 642249	NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile)	PIK3AP1 (T726I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 578637	NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg)	PIK3AP1 (T726R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 474922	NM_152309.3(PIK3AP1):c.2171-7C>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GBenign
Select item 2999291	NM_152309.3(PIK3AP1):c.2171-17T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1606929	NM_152309.3(PIK3AP1):c.2171-20A>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1650592	NM_152309.3(PIK3AP1):c.2170+18C>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1631608	NM_152309.3(PIK3AP1):c.2170+18C>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1671736	NM_152309.3(PIK3AP1):c.2170+17G>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2734242	NM_152309.3(PIK3AP1):c.2170+15G>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1547045	NM_152309.3(PIK3AP1):c.2170+14G>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1643205	NM_152309.3(PIK3AP1):c.2170+11G>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1353591	NM_152309.3(PIK3AP1):c.2147C>T (p.Thr716Ile)	PIK3AP1 (T716I)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1046300	NM_152309.3(PIK3AP1):c.2135G>A (p.Gly712Glu)	PIK3AP1 (G712E)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2740705	NM_152309.3(PIK3AP1):c.2132G>A (p.Arg711Gln)	PIK3AP1 (R711Q)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 3023157	NM_152309.3(PIK3AP1):c.2121G>A (p.Thr707=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 958927	NM_152309.3(PIK3AP1):c.2120C>T (p.Thr707Met)	PIK3AP1 (T707M)	Single nucleotide variant (missense variant)	Infantile spasms +1 more	GUncertain significance
Select item 2185778	NM_152309.3(PIK3AP1):c.2116A>C (p.Arg706=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 541747	NM_152309.3(PIK3AP1):c.2108T>C (p.Ile703Thr)	PIK3AP1 (I703T)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1496127	NM_152309.3(PIK3AP1):c.2103_2104inv (p.Val702Ile)	PIK3AP1 (V702I)	Inversion (missense variant)	Infantile spasms	GUncertain significance
Select item 1169952	NM_152309.3(PIK3AP1):c.2103T>C (p.Ser701=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GBenign
Select item 3212873	NM_152309.3(PIK3AP1):c.2102G>A (p.Ser701Asn)	PIK3AP1 (S701N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1673076	NM_152309.3(PIK3AP1):c.2100A>G (p.Lys700=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1410059	NM_152309.3(PIK3AP1):c.2099A>G (p.Lys700Arg)	PIK3AP1 (K700R)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1018992	NM_152309.3(PIK3AP1):c.2099A>T (p.Lys700Ile)	PIK3AP1 (K700I)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1696567	NM_152309.3(PIK3AP1):c.2087G>A (p.Ser696Asn)	PIK3AP1 (S696N)	Single nucleotide variant (missense variant)	PIK3AP1-related early onset epileptic encephalopathy	GUncertain significance
Select item 474920	NM_152309.3(PIK3AP1):c.2084A>T (p.Glu695Val)	PIK3AP1 (E695V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 474919	NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=)	PIK3AP1	Single nucleotide variant (synonymous variant)	PIK3AP1-related disorder +1 more	GBenign/Likely benign
Select item 3212872	NM_152309.3(PIK3AP1):c.2075G>T (p.Gly692Val)	PIK3AP1 (G692V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795656	NM_152309.3(PIK3AP1):c.2073T>C (p.Phe691=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1016037	NM_152309.3(PIK3AP1):c.2066T>C (p.Val689Ala)	PIK3AP1 (V689A)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 655116	NM_152309.3(PIK3AP1):c.2065G>A (p.Val689Met)	PIK3AP1 (V689M)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2532895	NM_152309.3(PIK3AP1):c.2056C>A (p.Pro686Thr)	PIK3AP1 (P686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1513115	NM_152309.3(PIK3AP1):c.2051A>G (p.His684Arg)	PIK3AP1 (H684R)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 851691	NM_152309.3(PIK3AP1):c.2035A>G (p.Ile679Val)	PIK3AP1 (I679V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2725597	NM_152309.3(PIK3AP1):c.2028G>A (p.Thr676=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 541748	NM_152309.3(PIK3AP1):c.2015-6T>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1563676	NM_152309.3(PIK3AP1):c.2014+17G>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2803589	NM_152309.3(PIK3AP1):c.2014+12C>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 642150	NM_152309.3(PIK3AP1):c.1998dup (p.Ser667fs)	PIK3AP1 (S667fs)	Duplication (frameshift variant)	Infantile spasms	GUncertain significance
Select item 1438932	NM_152309.3(PIK3AP1):c.1985G>A (p.Arg662Lys)	PIK3AP1 (R662K)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2872788	NM_152309.3(PIK3AP1):c.1983G>A (p.Gln661=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2889797	NM_152309.3(PIK3AP1):c.1966A>T (p.Ser656Cys)	PIK3AP1 (S656C)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1989336	NM_152309.3(PIK3AP1):c.1965C>T (p.Asp655=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1515774	NM_152309.3(PIK3AP1):c.1955G>A (p.Arg652Gln)	PIK3AP1 (R652Q)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2139090	NM_152309.3(PIK3AP1):c.1942-3C>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GUncertain significance
Select item 1582558	NM_152309.3(PIK3AP1):c.1942-10T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 1576080	NM_152309.3(PIK3AP1):c.1941+13G>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign

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