PIK3C2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 2382582	NM_001377334.1(PIK3C2B):c.4886G>A (p.Arg1629Gln)	PIK3C2B (R1601Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034564	NM_001377334.1(PIK3C2B):c.4863C>T (p.Thr1621=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 783961	NM_001377334.1(PIK3C2B):c.4862C>G (p.Thr1621Ser)	PIK3C2B (T1621S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3356825	NM_001377334.1(PIK3C2B):c.4827C>T (p.Ile1609=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 3034452	NM_001377334.1(PIK3C2B):c.4812C>T (p.Leu1604=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 784968	NM_001377334.1(PIK3C2B):c.4804G>A (p.Val1602Ile)	PIK3C2B (V1602I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3357175	NM_001377334.1(PIK3C2B):c.4783G>C (p.Glu1595Gln)	PIK3C2B (E1567Q +1 more)	Single nucleotide variant (missense variant)	PIK3C2B-related disorder	GUncertain significance
Select item 2224189	NM_001377334.1(PIK3C2B):c.4757G>A (p.Arg1586Gln)	PIK3C2B (R1586Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212915	NM_001377334.1(PIK3C2B):c.4648C>T (p.Pro1550Ser)	PIK3C2B (P1550S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033203	NM_001377334.1(PIK3C2B):c.4588-7A>G	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GLikely benign
Select item 3060868	NM_001377334.1(PIK3C2B):c.4533C>T (p.Ser1511=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 2622467	NM_001377334.1(PIK3C2B):c.4532C>A (p.Ser1511Tyr)	PIK3C2B (S1483Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058782	NM_001377334.1(PIK3C2B):c.4506A>G (p.Gly1502=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 2211066	NM_001377334.1(PIK3C2B):c.4396G>A (p.Glu1466Lys)	PIK3C2B (E1438K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059493	NM_001377334.1(PIK3C2B):c.4386T>C (p.Pro1462=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3345839	NM_001377334.1(PIK3C2B):c.4385C>T (p.Pro1462Leu)	PIK3C2B (P1434L +1 more)	Single nucleotide variant (missense variant)	PIK3C2B-related disorder	GUncertain significance
Select item 3060841	NM_001377334.1(PIK3C2B):c.4383C>T (p.Pro1461=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 2326183	NM_001377334.1(PIK3C2B):c.4372A>G (p.Ile1458Val)	PIK3C2B (I1458V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604745	NM_001377334.1(PIK3C2B):c.4333C>T (p.Arg1445Trp)	PIK3C2B (R1445W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412335	NM_001377334.1(PIK3C2B):c.4332G>C (p.Glu1444Asp)	PIK3C2B (E1444D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306540	NM_001377334.1(PIK3C2B):c.4330G>A (p.Glu1444Lys)	PIK3C2B (E1444K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356519	NM_001377334.1(PIK3C2B):c.4280+8C>T	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GLikely benign
Select item 2484842	NM_001377334.1(PIK3C2B):c.4240A>G (p.Asn1414Asp)	PIK3C2B (N1386D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057927	NM_001377334.1(PIK3C2B):c.4233A>G (p.Glu1411=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3352159	NM_001377334.1(PIK3C2B):c.4224G>A (p.Glu1408=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 3212914	NM_001377334.1(PIK3C2B):c.4208A>T (p.Gln1403Leu)	PIK3C2B (Q1403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043943	NM_001377334.1(PIK3C2B):c.4191C>T (p.His1397=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 727202	NM_001377334.1(PIK3C2B):c.4191C>A (p.His1397Gln)	PIK3C2B (H1397Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2323940	NM_001377334.1(PIK3C2B):c.4190A>G (p.His1397Arg)	PIK3C2B (H1397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212912	NM_001377334.1(PIK3C2B):c.4186A>G (p.Thr1396Ala)	PIK3C2B (T1368A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594439	NM_001377334.1(PIK3C2B):c.4118G>T (p.Cys1373Phe)	PIK3C2B (C1373F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709589	NM_001377334.1(PIK3C2B):c.4091C>G (p.Ser1364Cys)	PIK3C2B (S1364C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3049527	NM_001377334.1(PIK3C2B):c.4086G>A (p.Lys1362=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 2279844	NM_001377334.1(PIK3C2B):c.4031C>T (p.Thr1344Met)	PIK3C2B (T1316M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735675	NM_001377334.1(PIK3C2B):c.3906C>T (p.Ala1302=)	PIK3C2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060848	NM_001377334.1(PIK3C2B):c.3897G>A (p.Val1299=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3060088	NM_001377334.1(PIK3C2B):c.3843+6_3843+8del	PIK3C2B	Microsatellite (intron variant)	PIK3C2B-related disorder	GLikely benign
Select item 3043631	NM_001377334.1(PIK3C2B):c.3843+7A>C	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GLikely benign
Select item 727203	NM_001377334.1(PIK3C2B):c.3735C>T (p.Asn1245=)	PIK3C2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374611	NM_001377334.1(PIK3C2B):c.3634A>G (p.Ile1212Val)	PIK3C2B (I1184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212911	NM_001377334.1(PIK3C2B):c.3595G>A (p.Asp1199Asn)	PIK3C2B (D1171N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728464	NM_001377334.1(PIK3C2B):c.3567C>T (p.Tyr1189=)	PIK3C2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338551	NM_001377334.1(PIK3C2B):c.3563C>T (p.Thr1188Met)	PIK3C2B (T1160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491148	NM_001377334.1(PIK3C2B):c.3533T>C (p.Ile1178Thr)	PIK3C2B (I1150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041956	NM_001377334.1(PIK3C2B):c.3517-5C>T	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GBenign
Select item 3059686	NM_001377334.1(PIK3C2B):c.3444C>T (p.Thr1148=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3212910	NM_001377334.1(PIK3C2B):c.3371G>A (p.Arg1124Gln)	PIK3C2B (R1096Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212909	NM_001377334.1(PIK3C2B):c.3370C>T (p.Arg1124Trp)	PIK3C2B (R1124W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246871	NM_001377334.1(PIK3C2B):c.3281C>T (p.Thr1094Met)	PIK3C2B (T1066M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559828	NM_001377334.1(PIK3C2B):c.3251G>A (p.Cys1084Tyr)	PIK3C2B (C1056Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218609	NM_001377334.1(PIK3C2B):c.3236G>A (p.Arg1079His)	PIK3C2B (R1079H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315341	NM_001377334.1(PIK3C2B):c.3155G>A (p.Arg1052Lys)	PIK3C2B (R1024K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489909	NM_001377334.1(PIK3C2B):c.3151C>T (p.Pro1051Ser)	PIK3C2B (P1023S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050849	NM_001377334.1(PIK3C2B):c.3122G>C (p.Ser1041Thr)	PIK3C2B (S1013T +1 more)	Single nucleotide variant (missense variant)	PIK3C2B-related disorder	GLikely benign
Select item 3038706	NM_001377334.1(PIK3C2B):c.3105G>A (p.Ser1035=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 3352534	NM_001377334.1(PIK3C2B):c.3076G>A (p.Val1026Met)	PIK3C2B (V1026M +1 more)	Single nucleotide variant (missense variant)	PIK3C2B-related disorder	GLikely benign
Select item 3047948	NM_001377334.1(PIK3C2B):c.3049-4C>G	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GLikely benign
Select item 3352846	NM_001377334.1(PIK3C2B):c.3048+7G>A	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GLikely benign
Select item 783962	NM_001377334.1(PIK3C2B):c.3035C>A (p.Pro1012Gln)	PIK3C2B (P1012Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3057939	NM_001377334.1(PIK3C2B):c.3018G>A (p.Gln1006=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 3037850	NM_001377334.1(PIK3C2B):c.3005A>G (p.Lys1002Arg)	PIK3C2B (K1002R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2318817	NM_001377334.1(PIK3C2B):c.2890G>A (p.Asp964Asn)	PIK3C2B (D936N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463022	NM_001377334.1(PIK3C2B):c.2813G>A (p.Arg938His)	PIK3C2B (R910H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317501	NM_001377334.1(PIK3C2B):c.2804C>T (p.Pro935Leu)	PIK3C2B (P907L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060789	NM_001377334.1(PIK3C2B):c.2773-7G>A	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GBenign
Select item 3060357	NM_001377334.1(PIK3C2B):c.2773-9C>T	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GBenign
Select item 3036417	NM_001377334.1(PIK3C2B):c.2726C>T (p.Ser909Leu)	PIK3C2B (S881L +1 more)	Single nucleotide variant (missense variant)	PIK3C2B-related disorder	GLikely benign
Select item 3306543	NM_001377334.1(PIK3C2B):c.2636C>T (p.Thr879Ile)	PIK3C2B (T851I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609102	NM_001377334.1(PIK3C2B):c.2578G>A (p.Ala860Thr)	PIK3C2B (A860T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057476	NM_001377334.1(PIK3C2B):c.2577C>T (p.Ser859=)	PIK3C2B	Single nucleotide variant (synonymous variant +1 more)	PIK3C2B-related disorder	GBenign
Select item 2406570	NM_001377334.1(PIK3C2B):c.2543C>G (p.Ser848Trp)	PIK3C2B (S848W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392776	NM_001377334.1(PIK3C2B):c.2428A>G (p.Ser810Gly)	PIK3C2B (S810G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212906	NM_001377334.1(PIK3C2B):c.2413C>T (p.Arg805Cys)	PIK3C2B (R805C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212905	NM_001377334.1(PIK3C2B):c.2392C>G (p.Pro798Ala)	PIK3C2B (P798A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212904	NM_001377334.1(PIK3C2B):c.2363C>T (p.Ser788Leu)	PIK3C2B (S788L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059316	NM_001377334.1(PIK3C2B):c.2295C>T (p.Ser765=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3212903	NM_001377334.1(PIK3C2B):c.2252G>A (p.Arg751Gln)	PIK3C2B (R751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306545	NM_001377334.1(PIK3C2B):c.2210C>T (p.Thr737Ile)	PIK3C2B (T737I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048232	NM_001377334.1(PIK3C2B):c.2150C>T (p.Pro717Leu)	PIK3C2B (P717L)	Single nucleotide variant (missense variant)	PIK3C2B-related disorder	GLikely benign
Select item 3306541	NM_001377334.1(PIK3C2B):c.2101C>G (p.Arg701Gly)	PIK3C2B (R701G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306539	NM_001377334.1(PIK3C2B):c.2092C>T (p.Arg698Trp)	PIK3C2B (R698W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212902	NM_001377334.1(PIK3C2B):c.2070C>G (p.Ile690Met)	PIK3C2B (I690M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469576	NM_001377334.1(PIK3C2B):c.2065C>G (p.Gln689Glu)	PIK3C2B (Q689E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056606	NM_001377334.1(PIK3C2B):c.2052C>T (p.Ile684=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3306548	NM_001377334.1(PIK3C2B):c.2017A>G (p.Arg673Gly)	PIK3C2B (R673G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212901	NM_001377334.1(PIK3C2B):c.1988A>G (p.Lys663Arg)	PIK3C2B (K663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212899	NM_001377334.1(PIK3C2B):c.1984G>A (p.Gly662Ser)	PIK3C2B (G662S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057600	NM_001377334.1(PIK3C2B):c.1983C>T (p.Gly661=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 3212898	NM_001377334.1(PIK3C2B):c.1930A>C (p.Ile644Leu)	PIK3C2B (I644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056397	NM_001377334.1(PIK3C2B):c.1899C>T (p.Phe633=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 2224023	NM_001377334.1(PIK3C2B):c.1882G>T (p.Ala628Ser)	PIK3C2B (A628S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517154	NM_001377334.1(PIK3C2B):c.1847G>A (p.Arg616His)	PIK3C2B (R616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639828	NM_001377334.1(PIK3C2B):c.1729G>T (p.Ala577Ser)	PIK3C2B (A577S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3212897	NM_001377334.1(PIK3C2B):c.1669C>G (p.Gln557Glu)	PIK3C2B (Q557E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045190	NM_001377334.1(PIK3C2B):c.1632C>T (p.Ala544=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GLikely benign
Select item 3040177	NM_001377334.1(PIK3C2B):c.1623C>T (p.Asn541=)	PIK3C2B	Single nucleotide variant (synonymous variant)	PIK3C2B-related disorder	GBenign
Select item 3212896	NM_001377334.1(PIK3C2B):c.1576C>A (p.Pro526Thr)	PIK3C2B (P526T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060930	NM_001377334.1(PIK3C2B):c.1566+8C>G	PIK3C2B	Single nucleotide variant (intron variant)	PIK3C2B-related disorder	GBenign

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