Related gene-specific medical variations for Gene (Select 5293) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242097	NM_005026.5(PIK3CD):c.1243-7_1243-5del	LOC126805612, PIK3CD	Deletion (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 3237514	NM_005026.5(PIK3CD):c.317dup (p.Asp107fs)	PIK3CD (D107fs)	Duplication (frameshift variant)	Immunodeficiency 14b, autosomal recessive	GLikely pathogenic
Select item 3234574	NM_005026.5(PIK3CD):c.1195G>A (p.Glu399Lys)	LOC126805612, PIK3CD (E370K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022066	NM_005026.5(PIK3CD):c.1339+16G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 3018044	NM_005026.5(PIK3CD):c.1339+8C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 3003474	NM_005026.5(PIK3CD):c.1114A>G (p.Lys372Glu)	LOC126805612, PIK3CD (K372E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2991049	NM_005026.5(PIK3CD):c.1302C>T (p.Thr434=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2965948	NM_005026.5(PIK3CD):c.1054G>A (p.Glu352Lys)	LOC126805612, PIK3CD (E352K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2898779	NM_005026.5(PIK3CD):c.1378C>T (p.Arg460Cys)	LOC126805612, PIK3CD (R460C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2854467	NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)	LOC126805612, PIK3CD (K404R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2850919	NM_005026.5(PIK3CD):c.1339+6C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 2838846	NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)	LOC126805612, PIK3CD (S367L +1 more)	Indel (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2820848	NM_005026.5(PIK3CD):c.1303G>A (p.Gly435Arg)	LOC126805612, PIK3CD (G435R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2758361	NM_005026.5(PIK3CD):c.1306G>T (p.Glu436Ter)	LOC126805612, PIK3CD (E407* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 14	GUncertain significance
Select item 2748223	NM_005026.5(PIK3CD):c.1363C>T (p.Pro455Ser)	LOC126805612, PIK3CD (P426S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2746984	NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)	PIK3CD, LOC126805612 (M424I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2743398	NM_005026.5(PIK3CD):c.1021-14G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 2725753	NM_005026.5(PIK3CD):c.1339+20G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2722418	NM_005026.5(PIK3CD):c.1048G>A (p.Gly350Ser)	LOC126805612, PIK3CD (G350S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2719086	NM_005026.5(PIK3CD):c.1243-16C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GBenign
Select item 2709036	NM_005026.5(PIK3CD):c.1179G>T (p.Ala393=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2704372	NM_005026.5(PIK3CD):c.1383T>G (p.Ser461Arg)	LOC126805612, PIK3CD (S432R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2700393	NM_005026.5(PIK3CD):c.1047C>G (p.His349Gln)	LOC126805612, PIK3CD (H320Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2638189	NM_005026.5(PIK3CD):c.-138+2505G>A	PIK3CD, PIK3CD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2638188	NM_005026.5(PIK3CD):c.-138+2480C>T	PIK3CD, PIK3CD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2635780	NM_005026.5(PIK3CD):c.1306G>A (p.Glu436Lys)	LOC126805612, PIK3CD (E407K +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder	GUncertain significance
Select item 2582528	NM_005026.5(PIK3CD):c.266_273del (p.Leu89fs)	PIK3CD (L89fs)	Deletion (frameshift variant)	Immunodeficiency 14b, autosomal recessive	GLikely pathogenic
Select item 2416300	NM_005026.5(PIK3CD):c.1241C>T (p.Ala414Val)	LOC126805612, PIK3CD (A385V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2306703	NM_005026.5(PIK3CD):c.1313G>A (p.Cys438Tyr)	LOC126805612, PIK3CD (C409Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268262	NM_005026.5(PIK3CD):c.1093G>A (p.Val365Met)	LOC126805612, PIK3CD (V365M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244986	NM_005026.5(PIK3CD):c.1072G>T (p.Val358Leu)	LOC126805612, PIK3CD (V358L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195929	NM_005026.5(PIK3CD):c.1428C>T (p.Pro476=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2180805	NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)	LOC126805612, PIK3CD (S338L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2166407	NM_005026.5(PIK3CD):c.1021-16C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2152846	NM_005026.5(PIK3CD):c.1269C>T (p.Leu423=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 2143993	NM_005026.5(PIK3CD):c.1367C>T (p.Thr456Met)	LOC126805612, PIK3CD (T427M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2142766	NM_005026.5(PIK3CD):c.1242+16G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2133049	NM_005026.5(PIK3CD):c.1220C>T (p.Thr407Ile)	LOC126805612, PIK3CD (T407I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2127407	NM_005026.5(PIK3CD):c.1242+13G>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 2115894	NM_005026.5(PIK3CD):c.1355T>C (p.Leu452Pro)	LOC126805612, PIK3CD (L423P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2096466	NM_005026.5(PIK3CD):c.1188C>G (p.Ala396=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2074844	NM_005026.5(PIK3CD):c.1073T>C (p.Val358Ala)	LOC126805612, PIK3CD (V358A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GLikely benign
Select item 2052886	NM_005026.5(PIK3CD):c.1165C>T (p.Arg389Cys)	LOC126805612, PIK3CD (R360C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2045530	NM_005026.5(PIK3CD):c.1243-15C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2034295	NM_005026.5(PIK3CD):c.1243-11T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2015562	NM_005026.5(PIK3CD):c.1257C>T (p.Ala419=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1998252	NM_005026.5(PIK3CD):c.1344G>C (p.Glu448Asp)	LOC126805612, PIK3CD (E419D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1997237	NM_005026.5(PIK3CD):c.1362C>T (p.Asn454=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1996640	NM_005026.5(PIK3CD):c.1442A>C (p.His481Pro)	LOC126805612, PIK3CD (H452P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1969546	NM_005026.5(PIK3CD):c.1310G>A (p.Arg437His)	LOC126805612, PIK3CD (R437H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1967373	NM_005026.5(PIK3CD):c.1083G>A (p.Ser361=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1949697	NM_005026.5(PIK3CD):c.1021-7T>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1931509	NM_005026.5(PIK3CD):c.1395G>A (p.Thr465=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1927568	NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)	LOC126805612, PIK3CD (K433N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1926061	NM_005026.5(PIK3CD):c.1185C>T (p.Tyr395=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1916397	NM_005026.5(PIK3CD):c.1021-9C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1711209	NM_005026.5(PIK3CD):c.1076C>A (p.Ser359Tyr)	LOC126805612, PIK3CD (S330Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694490	NM_005026.5(PIK3CD):c.1461C>T (p.Ala487=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679581	NM_005026.5(PIK3CD):c.2764A>C (p.Lys922Gln)	PIK3CD (K893Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1670843	NM_005026.5(PIK3CD):c.1350C>T (p.Gly450=)	PIK3CD, LOC126805612	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1665540	NM_005026.5(PIK3CD):c.1021-17C>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1663304	NM_005026.5(PIK3CD):c.1243-5T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1657596	NM_005026.5(PIK3CD):c.1354C>T (p.Leu452=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1655009	NM_005026.5(PIK3CD):c.1458C>T (p.Pro486=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1653624	NM_005026.5(PIK3CD):c.1242+15C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1651474	NM_005026.5(PIK3CD):c.1021-17C>G	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1646541	NM_005026.5(PIK3CD):c.1339+17G>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1635791	NM_005026.5(PIK3CD):c.1339+17G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1617982	NM_005026.5(PIK3CD):c.1029G>A (p.Val343=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1613795	NM_005026.5(PIK3CD):c.1340-10_1340-9del	LOC126805612, PIK3CD	Deletion (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1607444	NM_005026.5(PIK3CD):c.1340-12C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1595811	NM_005026.5(PIK3CD):c.1053C>T (p.Asn351=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1590306	NM_005026.5(PIK3CD):c.1332C>T (p.Ser444=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1588837	NM_005026.5(PIK3CD):c.1242+13G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1568684	NM_005026.5(PIK3CD):c.1179G>A (p.Ala393=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1565695	NM_005026.5(PIK3CD):c.1290C>T (p.Asp430=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 1502434	NM_005026.5(PIK3CD):c.1368G>A (p.Thr456=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1499033	NM_005026.5(PIK3CD):c.1439C>T (p.Pro480Leu)	LOC126805612, PIK3CD (P451L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1495102	NM_005026.5(PIK3CD):c.1057A>G (p.Met353Val)	LOC126805612, PIK3CD (M324V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1445160	NM_005026.5(PIK3CD):c.1333G>A (p.Val445Ile)	LOC126805612, PIK3CD (V416I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1438615	NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu)	LOC126805612, PIK3CD (V314L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1435006	NM_005026.5(PIK3CD):c.1353G>C (p.Glu451Asp)	LOC126805612, PIK3CD (E422D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1425491	NM_005026.5(PIK3CD):c.1153C>T (p.Pro385Ser)	LOC126805612, PIK3CD (P385S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1421743	NM_005026.5(PIK3CD):c.1332C>A (p.Ser444=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1418141	NM_005026.5(PIK3CD):c.1251C>T (p.Pro417=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1409092	NM_005026.5(PIK3CD):c.1214G>A (p.Arg405His)	LOC126805612, PIK3CD (R376H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1407956	NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val)	LOC126805612, PIK3CD (E333V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1399114	NM_005026.5(PIK3CD):c.1121G>A (p.Arg374Gln)	PIK3CD, LOC126805612 (R374Q +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder +1 more	GUncertain significance
Select item 1319059	NM_005026.5(PIK3CD):c.1772A>G (p.His591Arg)	PIK3CD (H562R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318706	NM_005026.5(PIK3CD):c.1340-1G>A	LOC126805612, PIK3CD	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1315936	NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg)	LOC126805612, PIK3CD (S335R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 1249488	NM_005026.5(PIK3CD):c.1242+315A>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234673	NM_005026.5(PIK3CD):c.1243-108T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1168254	NM_005026.5(PIK3CD):c.1047C>T (p.His349=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GBenign
Select item 1166664	NM_005026.5(PIK3CD):c.1021-20C>G	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GBenign
Select item 1143405	NM_005026.5(PIK3CD):c.1224G>A (p.Lys408=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1143331	NM_005026.5(PIK3CD):c.1209G>A (p.Lys403=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1142640	NM_005026.5(PIK3CD):c.1083G>C (p.Ser361=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1136006	NM_005026.5(PIK3CD):c.1083G>T (p.Ser361=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1135502	NM_005026.5(PIK3CD):c.1389C>T (p.Pro463=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign

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