ClinVar for MedGen (Select 164212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235185	NM_181523.3(PIK3R1):c.1708dup (p.Leu570fs)	PIK3R1 (L207fs +3 more)	Duplication (frameshift variant)	SHORT syndrome	GLikely pathogenic
Select item 2954440	NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)	PIK3R1 (M364I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2954159	NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2954101	NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)	PIK3R1 (D281G)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2953559	NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2952766	NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)	PIK3R1 (V136fs +3 more)	Deletion (frameshift variant)	SHORT syndrome +2 more	GPathogenic
Select item 2952024	NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)	PIK3R1 (E169fs +3 more)	Deletion (frameshift variant)	SHORT syndrome +2 more	GPathogenic
Select item 2951885	NM_181523.3(PIK3R1):c.1814+6T>G	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2951820	NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)	PIK3R1 (P268Q +3 more)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2951762	NM_181523.3(PIK3R1):c.1985+4T>G	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2951379	NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)	PIK3R1 (K188fs +3 more)	Deletion (frameshift variant)	SHORT syndrome +2 more	GPathogenic
Select item 2951378	NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)	PIK3R1	Deletion (inframe_indel)	SHORT syndrome +2 more	GUncertain significance
Select item 2950902	NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)	PIK3R1 (I220F)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2950010	NM_181523.3(PIK3R1):c.1300-15T>C	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 2949751	NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)	PIK3R1 (N285K)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2949126	NM_181523.3(PIK3R1):c.1300-13T>G	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2948712	NM_181523.3(PIK3R1):c.916+15G>T	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2948385	NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2947547	NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)	PIK3R1 (I259T +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2946851	NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2946486	NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)	PIK3R1 (S83L)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2945406	NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2944640	NM_181523.3(PIK3R1):c.1568+4G>C	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2944081	NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)	PIK3R1 (H334Q +3 more)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2943916	NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)	PIK3R1 (V179M)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2943769	NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2942741	NM_181523.3(PIK3R1):c.335-3C>T	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2941819	NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)	PIK3R1 (R48G +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SHORT syndrome +2 more	GUncertain significance
Select item 2941515	NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)	PIK3R1 (P125R)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2941361	NM_181523.3(PIK3R1):c.1119-13A>T	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2940897	NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)	PIK3R1 (D173N)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2940674	NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)	PIK3R1 (Y244H +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2940642	NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)	PIK3R1 (D168N)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2940521	NM_181523.3(PIK3R1):c.1425+11T>A	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2940149	NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2940098	NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)	PIK3R1 (R151G)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2940039	NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)	PIK3R1 (P92R)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2939897	NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)	PIK3R1 (E61D)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2939744	NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)	PIK3R1 (D257E +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2939428	NM_181523.3(PIK3R1):c.917-5T>A	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2939147	NM_181523.3(PIK3R1):c.414C>A (p.Ala138=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2939082	NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)	PIK3R1 (R454Q +3 more)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2939049	NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2938577	NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2938273	NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)	PIK3R1 (R301Q)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2938041	NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2937662	NM_181523.3(PIK3R1):c.1985+19C>A	PIK3R1	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 2936698	NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2936498	NM_181523.3(PIK3R1):c.836+14G>A	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 2935666	NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2935158	NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)	PIK3R1 (G329D +3 more)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2934825	NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)	PIK3R1 (D107H)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2934374	NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2934068	NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)	PIK3R1 (F69L)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2934002	NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2933929	NM_181523.3(PIK3R1):c.635-10A>T	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 2933671	NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)	PIK3R1 (P194A)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2933379	NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)	PIK3R1 (R90W)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2933040	NM_181523.3(PIK3R1):c.1815-12C>T	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2932731	NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)	PIK3R1 (P305S)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2932123	NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2931748	NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)	PIK3R1 (A138G)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2931039	NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)	PIK3R1 (Y219C)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2930899	NM_181523.3(PIK3R1):c.1118+11del	PIK3R1	Deletion (intron variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2930667	NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2930609	NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)	PIK3R1 (N282S)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2930599	NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)	PIK3R1 (R202H +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2930180	NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)	PIK3R1 (Y716F +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2929877	NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2929400	NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)	PIK3R1 (M271V)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2929365	NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)	PIK3R1	Single nucleotide variant (5 prime UTR variant +1 more)	SHORT syndrome +2 more	GUncertain significance
Select item 2929290	NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2928341	NM_181523.3(PIK3R1):c.503-5C>T	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 2928076	NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2927620	NM_181523.3(PIK3R1):c.1019+5_1019+7del	PIK3R1	Deletion (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2927163	NM_181523.3(PIK3R1):c.1019+16C>G	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2926915	NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)	PIK3R1 (G100A)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2926162	NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2925462	NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)	PIK3R1 (N43H +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2924251	NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)	PIK3R1 (Y203H)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2923502	NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2923101	NM_181523.3(PIK3R1):c.858C>T (p.Leu286=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2922850	NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2921958	NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)	PIK3R1 (V17I +2 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2921939	NM_181523.3(PIK3R1):c.335-15T>G	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2921443	NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)	PIK3R1 (D173Y)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2585209	NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)	PIK3R1 (R543K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2579664	NM_181523.3(PIK3R1):c.1236T>G (p.Ser412=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome	GUncertain significance
Select item 2420030	NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2303792	NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)	PIK3R1 (K249R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2203654	NM_181523.3(PIK3R1):c.634+82A>G	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2201248	NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)	PIK3R1 (K130R +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2198943	NM_181523.3(PIK3R1):c.837-13C>A	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2188782	NM_181523.3(PIK3R1):c.1569-6C>T	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2181103	NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)	PIK3R1 (E350K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2180316	NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2175222	NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)	PIK3R1	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 36 +2 more	GBenign
Select item 2172742	NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)	PIK3R1 (Q111del)	Microsatellite (inframe_deletion)	SHORT syndrome +2 more	GUncertain significance
Select item 2169139	NM_181523.3(PIK3R1):c.916+9T>G	PIK3R1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2168250	NM_181523.3(PIK3R1):c.427+6C>G	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GUncertain significance

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