ClinVar for MedGen (Select 164212) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 328

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25796641.	NM_181523.3(PIK3R1):c.1236T>G (p.Ser412=) GRCh37: Chr5:67589248 GRCh38: Chr5:68293420	PIK3R1		SHORT syndrome	Uncertain significance (Sep 14, 2023)	criteria provided, single submitter
Select item 24200302.	NM_181523.3(PIK3R1):c.753T>C (p.Ser251=) GRCh37: Chr5:67576474 GRCh38: Chr5:68280646	PIK3R1		SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 22036543.	NM_181523.3(PIK3R1):c.634+82A>G GRCh37: Chr5:67575643 GRCh38: Chr5:68279815	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 22012484.	NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg) GRCh37: Chr5:67589301 GRCh38: Chr5:68293473	PIK3R1	K130R, K430R, K67R, K160R	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 21989435.	NM_181523.3(PIK3R1):c.837-13C>A GRCh37: Chr5:67576742 GRCh38: Chr5:68280914	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 21887826.	NM_181523.3(PIK3R1):c.1569-6C>T GRCh37: Chr5:67590970 GRCh38: Chr5:68295142	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 21811037.	NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys) GRCh37: Chr5:67592132 GRCh38: Chr5:68296304	PIK3R1	E350K, E287K, E380K, E650K	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 21803168.	NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=) GRCh37: Chr5:67593246 GRCh38: Chr5:68297418	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 21752229.	NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=) GRCh37: Chr5:67588959 GRCh38: Chr5:68293131	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 217274210.	NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del) GRCh37: Chr5:67522829-67522831 GRCh38: Chr5:68227001-68227003	PIK3R1	Q111del	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 216913911.	NM_181523.3(PIK3R1):c.916+9T>G GRCh37: Chr5:67576843 GRCh38: Chr5:68281015	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Benign (Jun 22, 2022)	criteria provided, single submitter
Select item 216825012.	NM_181523.3(PIK3R1):c.427+6C>G GRCh37: Chr5:67569316 GRCh38: Chr5:68273488	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 216028413.	NM_181523.3(PIK3R1):c.198G>A (p.Arg66=) GRCh37: Chr5:67522701 GRCh38: Chr5:68226873	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215965614.	NM_181523.3(PIK3R1):c.510C>G (p.Pro170=) GRCh37: Chr5:67575437 GRCh38: Chr5:68279609	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 215777515.	NM_181523.3(PIK3R1):c.1985+19C>T GRCh37: Chr5:67592188 GRCh38: Chr5:68296360	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 215089916.	NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile) GRCh37: Chr5:67575495 GRCh38: Chr5:68279667	PIK3R1	L190I	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214940017.	NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn) GRCh37: Chr5:67575459 GRCh38: Chr5:68279631	PIK3R1	D178N	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 214932618.	NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser) GRCh37: Chr5:67576401 GRCh38: Chr5:68280573	PIK3R1	I227S	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 214652119.	NM_181523.3(PIK3R1):c.549T>C (p.Ala183=) GRCh37: Chr5:67575476 GRCh38: Chr5:68279648	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 214156620.	NM_181523.3(PIK3R1):c.30G>A (p.Ala10=) GRCh37: Chr5:67522533 GRCh38: Chr5:68226705	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 214156121.	NM_181523.3(PIK3R1):c.1814+8G>T GRCh37: Chr5:67591324 GRCh38: Chr5:68295496	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 213502222.	NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr) GRCh37: Chr5:67575459 GRCh38: Chr5:68279631	PIK3R1	D178Y	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 212668523.	NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter) GRCh37: Chr5:67588981 GRCh38: Chr5:68293153	PIK3R1	R358, R58, R88*	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 212424624.	NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala) GRCh37: Chr5:67589214 GRCh38: Chr5:68293386	PIK3R1	V131A, V101A, V401A, V38A	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 211946725.	NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser) GRCh37: Chr5:67588970 GRCh38: Chr5:68293142	PIK3R1	T54S, T354S, T84S	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211909826.	NM_181523.3(PIK3R1):c.213A>C (p.Gly71=) GRCh37: Chr5:67522716 GRCh38: Chr5:68226888	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 211740227.	NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr) GRCh37: Chr5:67569281 GRCh38: Chr5:68273453	PIK3R1	I133T	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211693428.	NM_181523.3(PIK3R1):c.1746-9G>C GRCh37: Chr5:67591239 GRCh38: Chr5:68295411	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211346929.	NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu) GRCh37: Chr5:67593246 GRCh38: Chr5:68297418	PIK3R1	D394E, D301E, D364E, D664E	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 210614030.	NM_181523.3(PIK3R1):c.1019+19C>T GRCh37: Chr5:67588208 GRCh38: Chr5:68292380	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210575731.	NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=) GRCh37: Chr5:67590462 GRCh38: Chr5:68294634	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210478832.	NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs) GRCh37: Chr5:67589584-67589594 GRCh38: Chr5:68293756-68293766	PIK3R1	E451fs, E181fs, E151fs, E88fs	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 210370233.	NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp) GRCh37: Chr5:67522607-67522608 GRCh38: Chr5:68226779-68226780	PIK3R1	G35D	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 210097534.	NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn) GRCh37: Chr5:67569259 GRCh38: Chr5:68273431	PIK3R1	D126N	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 209471935.	NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys) GRCh37: Chr5:67591005 GRCh38: Chr5:68295177	PIK3R1	S263C, S533C, S170C, S233C	not provided, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 209382536.	NM_181523.3(PIK3R1):c.1425+19T>C GRCh37: Chr5:67589681 GRCh38: Chr5:68293853	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209186137.	NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro) GRCh37: Chr5:67590479 GRCh38: Chr5:68294651	PIK3R1	R151P, R214P, R514P, R244P	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208767138.	NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys) GRCh37: Chr5:67576816 GRCh38: Chr5:68280988	PIK3R1	E300K	SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208352239.	NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala) GRCh37: Chr5:67576831 GRCh38: Chr5:68281003	PIK3R1	P305A	SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 208061240.	NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala) GRCh37: Chr5:67575432 GRCh38: Chr5:68279604	PIK3R1	T169A	SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 207763241.	NM_181523.3(PIK3R1):c.1299+4A>G GRCh37: Chr5:67589315 GRCh38: Chr5:68293487	PIK3R1		SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 206106042.	NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln) GRCh37: Chr5:67592130 GRCh38: Chr5:68296302	PIK3R1	R286Q, R379Q, R349Q, R649Q	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 205971643.	NM_181523.3(PIK3R1):c.267C>T (p.Pro89=) GRCh37: Chr5:67522770 GRCh38: Chr5:68226942	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 205328744.	NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu) GRCh37: Chr5:67576463 GRCh38: Chr5:68280635	PIK3R1	F248L	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 205194345.	NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=) GRCh37: Chr5:67593420 GRCh38: Chr5:68297592	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 204343246.	NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His) GRCh37: Chr5:67592146 GRCh38: Chr5:68296318	PIK3R1	Q291H, Q384H, Q354H, Q654H	SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 204340847.	NM_181523.3(PIK3R1):c.33G>A (p.Leu11=) GRCh37: Chr5:67522536 GRCh38: Chr5:68226708	PIK3R1		SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 204078548.	NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=) GRCh37: Chr5:67590402 GRCh38: Chr5:68294574	PIK3R1		SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 203349649.	NM_181523.3(PIK3R1):c.1299+9_1299+19del GRCh37: Chr5:67589318-67589328 GRCh38: Chr5:68293490-68293500	PIK3R1		SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 202942950.	NM_181523.3(PIK3R1):c.916+2T>C GRCh37: Chr5:67576836 GRCh38: Chr5:68281008	PIK3R1		SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 201351451.	NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val) GRCh37: Chr5:67575556 GRCh38: Chr5:68279728	PIK3R1	A210V	SHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 201163852.	NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly) GRCh37: Chr5:67589556 GRCh38: Chr5:68293728	PIK3R1	D440G, D140G, D170G, D77G	SHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 200729553.	NM_181523.3(PIK3R1):c.264G>A (p.Lys88=) GRCh37: Chr5:67522767 GRCh38: Chr5:68226939	PIK3R1		SHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 200595754.	NM_181523.3(PIK3R1):c.1815-17_1815-16del GRCh37: Chr5:67591981-67591982 GRCh38: Chr5:68296153-68296154	PIK3R1		SHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200305155.	NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu) GRCh37: Chr5:67569269 GRCh38: Chr5:68273441	PIK3R1	P129L	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 200046656.	NM_181523.3(PIK3R1):c.162C>T (p.Gly54=) GRCh37: Chr5:67522665 GRCh38: Chr5:68226837	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 199932057.	NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val) GRCh37: Chr5:67522660 GRCh38: Chr5:68226832	PIK3R1	I53V	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 199801858.	NM_181523.3(PIK3R1):c.1985+3A>G GRCh37: Chr5:67592172 GRCh38: Chr5:68296344	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199458359.	NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys) GRCh37: Chr5:67569794 GRCh38: Chr5:68273966	PIK3R1	T152K	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 198868260.	NM_181523.3(PIK3R1):c.334+7A>G GRCh37: Chr5:67522844 GRCh38: Chr5:68227016	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 198296861.	NM_181523.3(PIK3R1):c.468C>T (p.Ser156=) GRCh37: Chr5:67569807 GRCh38: Chr5:68273979	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 197356062.	NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=) GRCh37: Chr5:67591102 GRCh38: Chr5:68295274	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 196722763.	NM_181523.3(PIK3R1):c.1985+11C>T GRCh37: Chr5:67592180 GRCh38: Chr5:68296352	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 196427964.	NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val) GRCh37: Chr5:67588123 GRCh38: Chr5:68292295	PIK3R1	A318V, A48V, A18V	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 195479165.	NM_181523.3(PIK3R1):c.1745+18A>G GRCh37: Chr5:67591170 GRCh38: Chr5:68295342	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 195142266.	NM_181523.3(PIK3R1):c.1986-11C>T GRCh37: Chr5:67593229 GRCh38: Chr5:68297401	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 194134967.	NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser) GRCh37: Chr5:67588126 GRCh38: Chr5:68292298	PIK3R1	N49S, N319S, N19S	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 193302468.	NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe) GRCh37: Chr5:67591115 GRCh38: Chr5:68295287	PIK3R1	L270F, L300F, L207F, L570F	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 191327569.	NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile) GRCh37: Chr5:67576358 GRCh38: Chr5:68280530	PIK3R1	V213I	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 190999070.	NM_181523.3(PIK3R1):c.334+18G>C GRCh37: Chr5:67522855 GRCh38: Chr5:68227027	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 190814071.	NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=) GRCh37: Chr5:67589659 GRCh38: Chr5:68293831	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 190795972.	NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly) GRCh37: Chr5:67576541 GRCh38: Chr5:68280713	PIK3R1	R274G	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 190583573.	NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=) GRCh37: Chr5:67590372 GRCh38: Chr5:68294544	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 189958774.	NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr) GRCh37: Chr5:67591152 GRCh38: Chr5:68295324	PIK3R1	M219T, M312T, M582T, M282T	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 171901075.	NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val) GRCh37: Chr5:67589270 GRCh38: Chr5:68293442	PIK3R1	L120V, L150V, L420V, L57V	Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 171832376.	NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys) GRCh37: Chr5:67522654 GRCh38: Chr5:68226826	PIK3R1	E51K	Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 171777977.	NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly) GRCh37: Chr5:67591028 GRCh38: Chr5:68295200	PIK3R1	S178G, S241G, S271G, S541G	Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171368078.	NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile) GRCh37: Chr5:67569224 GRCh38: Chr5:68273396	PIK3R1	T114I	Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 168745579.	NM_181523.3(PIK3R1):c.502+1G>T GRCh37: Chr5:67569842 GRCh38: Chr5:68274014	PIK3R1		SHORT syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168607080.	NM_181523.3(PIK3R1):c.916+1G>A GRCh37: Chr5:67576835 GRCh38: Chr5:68281007	PIK3R1		SHORT syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167511181.	NM_181523.3(PIK3R1):c.785G>C (p.Arg262Thr) GRCh37: Chr5:67576506 GRCh38: Chr5:68280678	PIK3R1	R262T	Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 167263082.	NM_181523.3(PIK3R1):c.1569-14T>C GRCh37: Chr5:67590962 GRCh38: Chr5:68295134	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 166676983.	NM_181523.3(PIK3R1):c.334+14_334+15delinsCA GRCh37: Chr5:67522851-67522852 GRCh38: Chr5:68227023-68227024	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Dec 28, 2020)	criteria provided, single submitter
Select item 166446684.	NM_181523.3(PIK3R1):c.1569-18C>T GRCh37: Chr5:67590958 GRCh38: Chr5:68295130	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Benign (Apr 6, 2021)	criteria provided, single submitter
Select item 166161485.	NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=) GRCh37: Chr5:67575494 GRCh38: Chr5:68279666	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Dec 14, 2020)	criteria provided, single submitter
Select item 166099586.	NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=) GRCh37: Chr5:67591040 GRCh38: Chr5:68295212	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Oct 10, 2021)	criteria provided, single submitter
Select item 165413487.	NM_181523.3(PIK3R1):c.1568+13C>G GRCh37: Chr5:67590519 GRCh38: Chr5:68294691	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 165413388.	NM_181523.3(PIK3R1):c.1568+7del GRCh37: Chr5:67590513 GRCh38: Chr5:68294685	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 165372289.	NM_181523.3(PIK3R1):c.1568+18T>G GRCh37: Chr5:67590524 GRCh38: Chr5:68294696	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 165308490.	NM_181523.3(PIK3R1):c.88T>C (p.Leu30=) GRCh37: Chr5:67522591 GRCh38: Chr5:68226763	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 165222091.	NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=) GRCh37: Chr5:67590504 GRCh38: Chr5:68294676	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 165068692.	NM_181523.3(PIK3R1):c.634+11T>C GRCh37: Chr5:67575572 GRCh38: Chr5:68279744	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Jan 21, 2021)	criteria provided, single submitter
Select item 164841693.	NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=) GRCh37: Chr5:67591135 GRCh38: Chr5:68295307	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 164350294.	NM_181523.3(PIK3R1):c.603C>T (p.Ala201=) GRCh37: Chr5:67575530 GRCh38: Chr5:68279702	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 163728795.	NM_181523.3(PIK3R1):c.351T>C (p.Asp117=) GRCh37: Chr5:67569234 GRCh38: Chr5:68273406	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (May 21, 2021)	criteria provided, single submitter
Select item 163561296.	NM_181523.3(PIK3R1):c.540C>T (p.His180=) GRCh37: Chr5:67575467 GRCh38: Chr5:68279639	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 163465197.	NM_181523.3(PIK3R1):c.1568+10_1568+18del GRCh37: Chr5:67590512-67590520 GRCh38: Chr5:68294684-68294692	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Aug 10, 2021)	criteria provided, single submitter
Select item 163265398.	NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=) GRCh37: Chr5:67590450 GRCh38: Chr5:68294622	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 163193699.	NM_181523.3(PIK3R1):c.2100C>T (p.His700=) GRCh37: Chr5:67593354 GRCh38: Chr5:68297526	PIK3R1		Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 1626134100.	NM_181523.3(PIK3R1):c.635-11T>A GRCh37: Chr5:67576345 GRCh38: Chr5:68280517	PIK3R1		Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36	Likely benign (Dec 6, 2021)	criteria provided, single submitter

<< First< Prev

Page of 4