PIK3C2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 1327026	NM_002645.4(PIK3C2A):c.*13T>C	PIK3C2A	Single nucleotide variant (3 prime UTR variant)	Oculocerebrodental syndrome	GBenign
Select item 1623310	NM_002645.4(PIK3C2A):c.5058G>A (p.Leu1686=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164260	NM_002645.4(PIK3C2A):c.5046G>A (p.Ala1682=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081517	NM_002645.4(PIK3C2A):c.5045C>T (p.Ala1682Val)	PIK3C2A (A1626V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1911263	NM_002645.4(PIK3C2A):c.5033A>G (p.Tyr1678Cys)	PIK3C2A (Y1298C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192392	NM_002645.4(PIK3C2A):c.5022G>A (p.Thr1674=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930264	NM_002645.4(PIK3C2A):c.5021C>T (p.Thr1674Met)	PIK3C2A (T1674M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200468	NM_002645.4(PIK3C2A):c.5006A>G (p.Asn1669Ser)	PIK3C2A (N1289S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1906752	NM_002645.4(PIK3C2A):c.4997A>G (p.Lys1666Arg)	PIK3C2A (K1286R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928798	NM_002645.4(PIK3C2A):c.4974G>A (p.Leu1658=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937047	NM_002645.4(PIK3C2A):c.4957C>T (p.Arg1653Trp)	PIK3C2A (R1273W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931706	NM_002645.4(PIK3C2A):c.4942A>G (p.Ser1648Gly)	PIK3C2A (S1648G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169043	NM_002645.4(PIK3C2A):c.4879-4G>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987017	NM_002645.4(PIK3C2A):c.4878+19T>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2991337	NM_002645.4(PIK3C2A):c.4863G>A (p.Pro1621=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934274	NM_002645.4(PIK3C2A):c.4862C>T (p.Pro1621Leu)	PIK3C2A (P1565L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073552	NM_002645.4(PIK3C2A):c.4854G>A (p.Thr1618=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064381	NM_002645.4(PIK3C2A):c.4829G>C (p.Arg1610Pro)	PIK3C2A (R1230P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405466	NM_002645.4(PIK3C2A):c.4817A>G (p.Lys1606Arg)	PIK3C2A (K1226R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364815	NM_002645.4(PIK3C2A):c.4804C>G (p.Pro1602Ala)	PIK3C2A (P1546A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545723	NM_002645.4(PIK3C2A):c.4786G>C (p.Val1596Leu)	PIK3C2A (V1596L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1665149	NM_002645.4(PIK3C2A):c.4782A>G (p.Pro1594=)	PIK3C2A	Single nucleotide variant (synonymous variant)	PIK3C2A-related condition +1 more	GBenign/Likely benign
Select item 1720994	NM_002645.4(PIK3C2A):c.4771G>T (p.Asp1591Tyr)	PIK3C2A (D1211Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719956	NM_002645.4(PIK3C2A):c.4752+16G>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946850	NM_002645.4(PIK3C2A):c.4747G>T (p.Asp1583Tyr)	PIK3C2A (D1527Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911520	NM_002645.4(PIK3C2A):c.4709G>A (p.Arg1570Gln)	PIK3C2A (R1514Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181689	NM_002645.4(PIK3C2A):c.4671C>T (p.Gly1557=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719857	NM_002645.4(PIK3C2A):c.4643-17_4643-10dup	PIK3C2A	Duplication (intron variant)	not provided	GLikely benign
Select item 2765646	NM_002645.4(PIK3C2A):c.4643-10G>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071126	NM_002645.4(PIK3C2A):c.4642+9A>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507969	NM_002645.4(PIK3C2A):c.4633A>G (p.Arg1545Gly)	PIK3C2A (R1489G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066503	NM_002645.4(PIK3C2A):c.4630G>C (p.Ala1544Pro)	PIK3C2A (A1164P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2014848	NM_002645.4(PIK3C2A):c.4618del (p.Ala1540fs)	PIK3C2A (A1160fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2106809	NM_002645.4(PIK3C2A):c.4561G>A (p.Val1521Ile)	PIK3C2A (V1141I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619259	NM_002645.4(PIK3C2A):c.4560T>G (p.Asp1520Glu)	PIK3C2A (D1140E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052557	NM_002645.4(PIK3C2A):c.4557G>A (p.Thr1519=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942007	NM_002645.4(PIK3C2A):c.4554A>G (p.Ser1518=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120662	NM_002645.4(PIK3C2A):c.4551T>C (p.Ala1517=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444857	NM_002645.4(PIK3C2A):c.4543A>T (p.Met1515Leu)	PIK3C2A (M1135L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1978576	NM_002645.4(PIK3C2A):c.4526G>A (p.Ser1509Asn)	PIK3C2A (S1129N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010690	NM_002645.4(PIK3C2A):c.4451+14C>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975961	NM_002645.4(PIK3C2A):c.4451+13C>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950164	NM_002645.4(PIK3C2A):c.4451+10C>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998415	NM_002645.4(PIK3C2A):c.4451+8T>G	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654615	NM_002645.4(PIK3C2A):c.4442A>G (p.Lys1481Arg)	PIK3C2A (K1101R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1996445	NM_002645.4(PIK3C2A):c.4419C>T (p.Leu1473=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130331	NM_002645.4(PIK3C2A):c.4412A>G (p.Asn1471Ser)	PIK3C2A (N1471S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722074	NM_002645.4(PIK3C2A):c.4401G>A (p.Gln1467=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076053	NM_002645.4(PIK3C2A):c.4385C>T (p.Thr1462Ile)	PIK3C2A (T1406I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329497	NM_002645.4(PIK3C2A):c.4379T>C (p.Phe1460Ser)	PIK3C2A (F1080S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972697	NM_002645.4(PIK3C2A):c.4346T>G (p.Leu1449Trp)	PIK3C2A (L1393W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936962	NM_002645.4(PIK3C2A):c.4327-15G>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970447	NM_002645.4(PIK3C2A):c.4327-17G>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992483	NM_002645.4(PIK3C2A):c.4326+18A>G	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868536	NM_002645.4(PIK3C2A):c.4326+16A>G	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914535	NM_002645.4(PIK3C2A):c.4326+8del	PIK3C2A	Deletion (intron variant)	not provided	GLikely benign
Select item 1950016	NM_002645.4(PIK3C2A):c.4326+6T>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1918284	NM_002645.4(PIK3C2A):c.4324_4326del (p.Tyr1442del)	PIK3C2A (Y1386del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1913163	NM_002645.4(PIK3C2A):c.4298A>G (p.His1433Arg)	PIK3C2A (H1053R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929483	NM_002645.4(PIK3C2A):c.4279G>A (p.Val1427Ile)	PIK3C2A (V1427I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080332	NM_002645.4(PIK3C2A):c.4269A>T (p.Arg1423=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2749780	NM_002645.4(PIK3C2A):c.4267C>A (p.Arg1423=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540759	NM_002645.4(PIK3C2A):c.4261G>C (p.Asp1421His)	PIK3C2A (D1041H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2869058	NM_002645.4(PIK3C2A):c.4243del (p.Thr1415fs)	PIK3C2A (T1035fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1327027	NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala)	PIK3C2A (T1035A +2 more)	Single nucleotide variant (missense variant)	Oculocerebrodental syndrome +2 more	GBenign
Select item 2712285	NM_002645.4(PIK3C2A):c.4239T>G (p.Pro1413=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618927	NM_002645.4(PIK3C2A):c.4200T>C (p.Gly1400=)	PIK3C2A	Single nucleotide variant (synonymous variant)	PIK3C2A-related condition +1 more	GBenign
Select item 3004815	NM_002645.4(PIK3C2A):c.4182T>C (p.Ala1394=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962331	NM_002645.4(PIK3C2A):c.4180G>A (p.Ala1394Thr)	PIK3C2A (A1014T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798197	NM_002645.4(PIK3C2A):c.4176C>T (p.Asn1392=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 940980	NM_002645.4(PIK3C2A):c.4150A>G (p.Thr1384Ala)	PIK3C2A (T1004A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2300274	NM_002645.4(PIK3C2A):c.4093G>A (p.Ala1365Thr)	PIK3C2A (A1309T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1600208	NM_002645.4(PIK3C2A):c.4092C>T (p.Asp1364=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2085369	NM_002645.4(PIK3C2A):c.4059C>T (p.Tyr1353=)	PIK3C2A	Single nucleotide variant (synonymous variant)	PIK3C2A-related condition +1 more	GBenign
Select item 2173193	NM_002645.4(PIK3C2A):c.4039A>G (p.Ser1347Gly)	PIK3C2A (S1347G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033336	NM_002645.4(PIK3C2A):c.4035T>C (p.Leu1345=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090396	NM_002645.4(PIK3C2A):c.4009-6C>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914610	NM_002645.4(PIK3C2A):c.4008+16A>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970818	NM_002645.4(PIK3C2A):c.4008+7A>G	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943435	NM_002645.4(PIK3C2A):c.3983A>C (p.Asn1328Thr)	PIK3C2A (N948T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084796	NM_002645.4(PIK3C2A):c.3923G>A (p.Arg1308His)	PIK3C2A (R1252H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192428	NM_002645.4(PIK3C2A):c.3921T>A (p.Ile1307=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830669	NM_002645.4(PIK3C2A):c.3873G>T (p.Leu1291=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760733	NM_002645.4(PIK3C2A):c.3851+19T>C	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960566	NM_002645.4(PIK3C2A):c.3851+14G>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923110	NM_002645.4(PIK3C2A):c.3833T>A (p.Met1278Lys)	PIK3C2A (M898K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158106	NM_002645.4(PIK3C2A):c.3783G>A (p.Thr1261=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2809458	NM_002645.4(PIK3C2A):c.3774T>C (p.Leu1258=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268205	NM_002645.4(PIK3C2A):c.3752G>A (p.Arg1251Gln)	PIK3C2A (R1251Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1567569	NM_002645.4(PIK3C2A):c.3682-10T>G	PIK3C2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327028	NM_002645.4(PIK3C2A):c.3681+46G>A	PIK3C2A	Single nucleotide variant (intron variant)	Oculocerebrodental syndrome	GBenign
Select item 1905635	NM_002645.4(PIK3C2A):c.3681+19C>T	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986627	NM_002645.4(PIK3C2A):c.3613T>C (p.Ser1205Pro)	PIK3C2A (S1205P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2414845	NM_002645.4(PIK3C2A):c.3610G>A (p.Gly1204Arg)	PIK3C2A (G1148R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227980	NM_002645.4(PIK3C2A):c.3555G>T (p.Glu1185Asp)	PIK3C2A (E1185D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2875701	NM_002645.4(PIK3C2A):c.3545-15_3545-13del	PIK3C2A	Deletion (intron variant)	not provided	GLikely benign
Select item 1950121	NM_002645.4(PIK3C2A):c.3544+19T>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981599	NM_002645.4(PIK3C2A):c.3544+5G>A	PIK3C2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2483965	NM_002645.4(PIK3C2A):c.3542G>A (p.Arg1181Gln)	PIK3C2A (R1125Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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