ClinVar for MedGen (Select 854616) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023157	NM_152309.3(PIK3AP1):c.2121G>A (p.Thr707=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 3021294	NM_152309.3(PIK3AP1):c.1398T>G (p.Ser466Arg)	PIK3AP1 (S466R)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 3016442	NM_152309.3(PIK3AP1):c.759A>C (p.Leu253Phe)	PIK3AP1 (L253F)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 3000183	NM_152309.3(PIK3AP1):c.1068C>T (p.Leu356=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2999291	NM_152309.3(PIK3AP1):c.2171-17T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2996805	NM_152309.3(PIK3AP1):c.608A>G (p.Asp203Gly)	PIK3AP1 (D203G)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2978879	NM_152309.3(PIK3AP1):c.612C>T (p.Asp204=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2970108	NM_152309.3(PIK3AP1):c.1740G>A (p.Pro580=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2963480	NM_152309.3(PIK3AP1):c.18G>A (p.Val6=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2962798	NM_152309.3(PIK3AP1):c.233A>G (p.His78Arg)	PIK3AP1 (H78R)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2959247	NM_152309.3(PIK3AP1):c.492G>C (p.Ser164=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2956257	NM_152309.3(PIK3AP1):c.442G>T (p.Asp148Tyr)	PIK3AP1 (D148Y)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2918896	NM_152309.3(PIK3AP1):c.1186-17C>T	PIK3AP1	Single nucleotide variant (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 2911997	NM_152309.3(PIK3AP1):c.2360+19T>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2908565	NM_152309.3(PIK3AP1):c.856-20A>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
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 2904008	NM_152309.3(PIK3AP1):c.112C>G (p.Arg38Gly)	PIK3AP1 (R38G)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2903456	NM_152309.3(PIK3AP1):c.855+13C>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2897031	NM_152309.3(PIK3AP1):c.662G>A (p.Arg221Lys)	PIK3AP1 (R221K)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2895189	NM_152309.3(PIK3AP1):c.156C>T (p.Ser52=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
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 2889797	NM_152309.3(PIK3AP1):c.1966A>T (p.Ser656Cys)	PIK3AP1 (S656C)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2889779	NM_152309.3(PIK3AP1):c.135C>T (p.His45=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2889368	NM_152309.3(PIK3AP1):c.1930C>T (p.Arg644Cys)	PIK3AP1 (R644C)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2887627	NM_152309.3(PIK3AP1):c.512C>G (p.Thr171Arg)	PIK3AP1 (T171R)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2886878	NM_152309.3(PIK3AP1):c.431-5T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2885253	NM_152309.3(PIK3AP1):c.713-19T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2881137	NM_152309.3(PIK3AP1):c.1650C>G (p.Asn550Lys)	PIK3AP1 (N550K)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2875351	NM_152309.3(PIK3AP1):c.53C>T (p.Pro18Leu)	PIK3AP1 (P18L)	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 2862043	NM_152309.3(PIK3AP1):c.14-17G>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GBenign
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 2849012	NM_152309.3(PIK3AP1):c.1233C>T (p.His411=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2847142	NM_152309.3(PIK3AP1):c.313G>A (p.Val105Met)	PIK3AP1 (V105M)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2844215	NM_152309.3(PIK3AP1):c.91T>C (p.Phe31Leu)	PIK3AP1 (F31L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2835487	NM_152309.3(PIK3AP1):c.813T>C (p.Asn271=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2830666	NM_152309.3(PIK3AP1):c.988+6T>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GUncertain significance
Select item 2816152	NM_152309.3(PIK3AP1):c.363G>T (p.Trp121Cys)	PIK3AP1 (W121C)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2813671	NM_152309.3(PIK3AP1):c.319G>A (p.Asp107Asn)	PIK3AP1 (D107N)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2810596	NM_152309.3(PIK3AP1):c.1670-9A>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2809053	NM_152309.3(PIK3AP1):c.13+19C>T	LOC130004450, 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 2801924	NM_152309.3(PIK3AP1):c.1213A>C (p.Ile405Leu)	PIK3AP1 (I405L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2801238	NM_152309.3(PIK3AP1):c.1543A>G (p.Thr515Ala)	PIK3AP1 (T515A)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2800729	NM_152309.3(PIK3AP1):c.1414C>T (p.Pro472Ser)	PIK3AP1 (P472S)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2794498	NM_152309.3(PIK3AP1):c.426C>T (p.Ser142=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2793330	NM_152309.3(PIK3AP1):c.758T>C (p.Leu253Ser)	PIK3AP1 (L253S)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2769257	NM_152309.3(PIK3AP1):c.1325A>T (p.Asp442Val)	LOC130004439, PIK3AP1 (D442V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2766182	NM_152309.3(PIK3AP1):c.216C>G (p.Ser72=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2751986	NM_152309.3(PIK3AP1):c.1436C>T (p.Ala479Val)	PIK3AP1 (A479V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2747344	NM_152309.3(PIK3AP1):c.1471+6T>C	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	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 2740705	NM_152309.3(PIK3AP1):c.2132G>A (p.Arg711Gln)	PIK3AP1 (R711Q)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2734261	NM_152309.3(PIK3AP1):c.325G>A (p.Glu109Lys)	PIK3AP1 (E109K)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2734242	NM_152309.3(PIK3AP1):c.2170+15G>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2725604	NM_152309.3(PIK3AP1):c.1507C>G (p.Gln503Glu)	PIK3AP1 (Q503E)	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 2719318	NM_152309.3(PIK3AP1):c.1281A>T (p.Thr427=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2716176	NM_152309.3(PIK3AP1):c.1190C>T (p.Thr397Met)	PIK3AP1 (T397M)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2711931	NM_152309.3(PIK3AP1):c.1032G>T (p.Ala344=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2707548	NM_152309.3(PIK3AP1):c.1471+18G>A	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2698279	NM_152309.3(PIK3AP1):c.1536T>G (p.Val512=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2696802	NM_152309.3(PIK3AP1):c.381C>A (p.Asp127Glu)	PIK3AP1 (D127E)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2469506	NM_152309.3(PIK3AP1):c.123G>C (p.Lys41Asn)	PIK3AP1 (K41N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2413359	NM_152309.3(PIK3AP1):c.219G>A (p.Ala73=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2198825	NM_152309.3(PIK3AP1):c.1242G>A (p.Glu414=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2198546	NM_152309.3(PIK3AP1):c.748T>G (p.Ser250Ala)	PIK3AP1 (S250A)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2195324	NM_152309.3(PIK3AP1):c.1765C>T (p.Pro589Ser)	PIK3AP1 (P589S)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2192697	NM_152309.3(PIK3AP1):c.1177G>A (p.Glu393Lys)	PIK3AP1 (E393K)	Single nucleotide variant (missense variant)	Infantile spasms	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 2174195	NM_152309.3(PIK3AP1):c.1092G>C (p.Ala364=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
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 2165952	NM_152309.3(PIK3AP1):c.1176C>T (p.Asp392=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2164028	NM_152309.3(PIK3AP1):c.367G>A (p.Glu123Lys)	PIK3AP1 (E123K)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2160388	NM_152309.3(PIK3AP1):c.1031C>T (p.Ala344Val)	PIK3AP1 (A344V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2158047	NM_152309.3(PIK3AP1):c.158_160del (p.Phe53del)	PIK3AP1 (F53del)	Deletion (inframe_deletion)	Infantile spasms	GUncertain significance
Select item 2146188	NM_152309.3(PIK3AP1):c.1311C>T (p.Pro437=)	LOC130004439, PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2144649	NM_152309.3(PIK3AP1):c.295G>C (p.Val99Leu)	PIK3AP1 (V99L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2144166	NM_152309.3(PIK3AP1):c.1143A>G (p.Lys381=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GBenign
Select item 2143616	NM_152309.3(PIK3AP1):c.1694G>A (p.Arg565Gln)	PIK3AP1 (R565Q)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2140984	NM_152309.3(PIK3AP1):c.514G>C (p.Val172Leu)	PIK3AP1 (V172L)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2140927	NM_152309.3(PIK3AP1):c.829G>A (p.Ala277Thr)	PIK3AP1 (A277T)	Single nucleotide variant (missense variant)	not specified +1 more	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 2122746	NM_152309.3(PIK3AP1):c.1736G>C (p.Gly579Ala)	PIK3AP1 (G579A)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2084555	NM_152309.3(PIK3AP1):c.1060T>A (p.Leu354Met)	PIK3AP1 (L354M)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2080994	NM_152309.3(PIK3AP1):c.1243G>T (p.Ala415Ser)	PIK3AP1 (A415S)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2078492	NM_152309.3(PIK3AP1):c.1669+17A>G	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 2059947	NM_152309.3(PIK3AP1):c.218C>T (p.Ala73Val)	PIK3AP1 (A73V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2053525	NM_152309.3(PIK3AP1):c.312C>T (p.Gly104=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GUncertain significance
Select item 2050031	NM_152309.3(PIK3AP1):c.988+11A>G	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2045882	NM_152309.3(PIK3AP1):c.1703A>T (p.Asn568Ile)	PIK3AP1 (N568I)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2036613	NM_152309.3(PIK3AP1):c.2360+15G>T	PIK3AP1	Single nucleotide variant (intron variant)	Infantile spasms	GLikely benign
Select item 2029983	NM_152309.3(PIK3AP1):c.333C>T (p.Phe111=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2023709	NM_152309.3(PIK3AP1):c.2196C>G (p.Thr732=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2015416	NM_152309.3(PIK3AP1):c.646G>A (p.Asp216Asn)	PIK3AP1 (D216N)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2013288	NM_152309.3(PIK3AP1):c.1470A>G (p.Glu490=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GUncertain significance
Select item 2006975	NM_152309.3(PIK3AP1):c.253C>T (p.Leu85=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 2003408	NM_152309.3(PIK3AP1):c.621G>T (p.Ala207=)	PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign

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