ClinVar for MedGen (Select 52736) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 722

<< First< Prev

Page of 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25810871.	NM_000419.5(ITGA2B):c.1947-2A>G GRCh37: Chr17:42455879 GRCh38: Chr17:44378511	ITGA2B		Glanzmann thrombasthenia	Pathogenic (Aug 15, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25810862.	NM_000419.5(ITGA2B):c.575-1_575insGGACAA (p.Phe191_Ser192insArgThr) GRCh37: Chr17:42462702-42462703 GRCh38: Chr17:44385334-44385335	ITGA2B		Glanzmann thrombasthenia	Pathogenic (Sep 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25810853.	NM_000212.3(ITGB3):c.2187_2203delinsTCATTGGCTCA (p.Ile730_Leu735delinsHisTrpLeuIle) GRCh37: Chr17:45384889-45384905 GRCh38: Chr17:47307523-47307539	EFCAB13-DT, ITGB3		Glanzmann thrombasthenia	Likely pathogenic (Aug 15, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25810844.	NM_000419.5(ITGA2B):c.1616_1620delinsGGCAC (p.Leu539_Gln540delinsArgHis) GRCh37: Chr17:42457502-42457506 GRCh38: Chr17:44380134-44380138	ITGA2B		Glanzmann thrombasthenia	Uncertain significance (Sep 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25810835.	NM_000212.3(ITGB3):c.961A>C (p.Met321Leu) GRCh37: Chr17:45367068 GRCh38: Chr17:47289702	ITGB3	M321L	Glanzmann thrombasthenia	Uncertain significance (Sep 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25810826.	NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser) GRCh37: Chr17:42461301 GRCh38: Chr17:44383933	ITGA2B	F320S	Glanzmann thrombasthenia	Likely pathogenic (Aug 15, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25064177.	NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter) GRCh37: Chr17:42457480 GRCh38: Chr17:44380112	ITGA2B	Q548*	Glanzmann thrombasthenia	Pathogenic (Jun 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25064168.	NM_000419.5(ITGA2B):c.539del (p.Asn180fs) GRCh37: Chr17:42462954 GRCh38: Chr17:44385586	ITGA2B	N180fs	Glanzmann thrombasthenia	Pathogenic (Jun 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25064159.	NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu) GRCh37: Chr17:42463201 GRCh38: Chr17:44385833	ITGA2B, LOC130060983	D133E	Glanzmann thrombasthenia	Pathogenic (Jun 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250641410.	NM_000212.3(ITGB3):c.2301+1G>C GRCh37: Chr17:45385004 GRCh38: Chr17:47307638	EFCAB13-DT, ITGB3		Glanzmann thrombasthenia	Pathogenic (Jun 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250641311.	NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg) GRCh37: Chr17:42463476 GRCh38: Chr17:44386108	ITGA2B	P71R	Glanzmann thrombasthenia	Likely pathogenic (Jun 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250641212.	NM_000212.3(ITGB3):c.646T>C (p.Tyr216His) GRCh37: Chr17:45363657 GRCh38: Chr17:47286291	ITGB3, LOC130061043	Y216H	Glanzmann thrombasthenia	Likely pathogenic (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250641113.	NM_000212.3(ITGB3):c.2027A>C (p.Lys676Thr) GRCh37: Chr17:45380099 GRCh38: Chr17:47302733	ITGB3	K676T	Glanzmann thrombasthenia	Uncertain significance (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250641014.	NM_000212.3(ITGB3):c.473A>T (p.Gln158Leu) GRCh37: Chr17:45361920 GRCh38: Chr17:47284554	ITGB3	Q158L	Glanzmann thrombasthenia	Uncertain significance (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250640915.	NM_000419.5(ITGA2B):c.617T>A (p.Val206Asp) GRCh37: Chr17:42462661 GRCh38: Chr17:44385293	ITGA2B	V206D	Glanzmann thrombasthenia	Uncertain significance (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250640816.	NM_000419.5(ITGA2B):c.1524_1533del (p.Gln508fs) GRCh37: Chr17:42457765-42457774 GRCh38: Chr17:44380397-44380406	ITGA2B	Q508fs	Glanzmann thrombasthenia	Pathogenic (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250640717.	NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro) GRCh37: Chr17:42457978 GRCh38: Chr17:44380610	ITGA2B	A477P	Glanzmann thrombasthenia	Likely pathogenic (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250640618.	NM_000419.5(ITGA2B):c.2449-1G>C GRCh37: Chr17:42453354 GRCh38: Chr17:44375986	ITGA2B		Glanzmann thrombasthenia	Pathogenic (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250640519.	NM_000419.5(ITGA2B):c.1922C>T (p.Pro641Leu) GRCh37: Chr17:42456035 GRCh38: Chr17:44378667	ITGA2B	P641L	Glanzmann thrombasthenia	Uncertain significance (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 250640420.	NM_000419.5(ITGA2B):c.2478dup (p.Gly827fs) GRCh37: Chr17:42453323-42453324 GRCh38: Chr17:44375955-44375956	ITGA2B	G827fs	Glanzmann thrombasthenia	Likely pathogenic (May 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249837321.	NM_000212.3(ITGB3):c.602del (p.Asn201fs) GRCh37: Chr17:45362046 GRCh38: Chr17:47284680	ITGB3	N201fs	Glanzmann thrombasthenia	Pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249837222.	NM_000212.3(ITGB3):c.1658_1660del (p.Ser553del) GRCh37: Chr17:45369900-45369902 GRCh38: Chr17:47292534-47292536	ITGB3	S553del	Glanzmann thrombasthenia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249837123.	NM_000212.3(ITGB3):c.155G>T (p.Cys52Phe) GRCh37: Chr17:45351860 GRCh38: Chr17:47274494	ITGB3	C52F	Glanzmann thrombasthenia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249837024.	NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg) GRCh37: Chr17:45361985 GRCh38: Chr17:47284619	ITGB3	G180R	Glanzmann thrombasthenia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836925.	NM_000212.3(ITGB3):c.2T>C (p.Met1Thr) GRCh37: Chr17:45331229 GRCh38: Chr17:47253863	ITGB3, LOC130061041	M1T	Glanzmann thrombasthenia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836826.	NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del) GRCh37: Chr17:45364542-45364556 GRCh38: Chr17:47287176-47287190	ITGB3		Glanzmann thrombasthenia	Likely pathogenic (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836727.	NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His) GRCh37: Chr17:42462973 GRCh38: Chr17:44385605	ITGA2B	Y174H	Glanzmann thrombasthenia	Likely pathogenic (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836628.	NM_000419.5(ITGA2B):c.2933G>T (p.Gly978Val) GRCh37: Chr17:42452037 GRCh38: Chr17:44374669	ITGA2B	G978V	Glanzmann thrombasthenia	Uncertain significance (Apr 6, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836529.	NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter) GRCh37: Chr17:42451788 GRCh38: Chr17:44374420	ITGA2B	W998*	Glanzmann thrombasthenia	Pathogenic (Apr 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836430.	NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter) GRCh37: Chr17:45377920 GRCh38: Chr17:47300554	ITGB3	E664*	Glanzmann thrombasthenia	Pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836331.	NM_000212.3(ITGB3):c.385C>A (p.Gln129Lys) GRCh37: Chr17:45361832 GRCh38: Chr17:47284466	ITGB3	Q129K	Glanzmann thrombasthenia	Uncertain significance (Mar 21, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836232.	NM_000212.3(ITGB3):c.812dup (p.Leu271fs) GRCh37: Chr17:45364468-45364469 GRCh38: Chr17:47287102-47287103	ITGB3, LOC130061045	L271fs	Glanzmann thrombasthenia	Pathogenic (Mar 21, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836133.	NM_000212.3(ITGB3):c.487A>C (p.Lys163Gln) GRCh37: Chr17:45361934 GRCh38: Chr17:47284568	ITGB3	K163Q	Glanzmann thrombasthenia	Uncertain significance (Mar 21, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249836034.	NM_000419.5(ITGA2B):c.1946+3G>T GRCh37: Chr17:42456008 GRCh38: Chr17:44378640	ITGA2B		Glanzmann thrombasthenia	Likely pathogenic (Mar 21, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835935.	NM_000419.5(ITGA2B):c.2415_2416del (p.Asp805fs) GRCh37: Chr17:42453485-42453486 GRCh38: Chr17:44376117-44376118	ITGA2B	D805fs	Glanzmann thrombasthenia	Pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835836.	NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn) GRCh37: Chr17:42457661 GRCh38: Chr17:44380293	ITGA2B	I518N	Glanzmann thrombasthenia	Likely pathogenic (Mar 21, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835737.	NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln) GRCh37: Chr17:42454380 GRCh38: Chr17:44377012	ITGA2B	R755Q	Glanzmann thrombasthenia	Uncertain significance (Mar 21, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835638.	NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter) GRCh37: Chr17:45364450 GRCh38: Chr17:47287084	ITGB3	W264*	Glanzmann thrombasthenia	Pathogenic (Feb 2, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835539.	NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg) GRCh37: Chr17:42453709 GRCh38: Chr17:44376341	ITGA2B	P772R	Glanzmann thrombasthenia	Uncertain significance (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835440.	NM_000419.5(ITGA2B):c.470C>A (p.Pro157His) GRCh37: Chr17:42463023 GRCh38: Chr17:44385655	ITGA2B	P157H	Glanzmann thrombasthenia	Pathogenic (Feb 2, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835341.	NM_000212.3(ITGB3):c.1616_1617del (p.Phe539fs) GRCh37: Chr17:45369859-45369860 GRCh38: Chr17:47292493-47292494	ITGB3	F539fs	Glanzmann thrombasthenia	Pathogenic (Feb 2, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835242.	NM_000419.5(ITGA2B):c.175del (p.Asp59fs) GRCh37: Chr17:42466667 GRCh38: Chr17:44389299	ITGA2B	D59fs	Glanzmann thrombasthenia	Pathogenic (Feb 23, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835143.	NM_000212.3(ITGB3):c.1818G>T (p.Lys606Asn) GRCh37: Chr17:45376801 GRCh38: Chr17:47299435	ITGB3	K606N	Glanzmann thrombasthenia	Uncertain significance (Feb 2, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249835044.	NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter) GRCh37: Chr17:45369720 GRCh38: Chr17:47292354	ITGB3	W492*	Glanzmann thrombasthenia	Pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249834945.	NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter) GRCh37: Chr17:42452029 GRCh38: Chr17:44374661	ITGA2B	Q981*	Glanzmann thrombasthenia	Pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249834846.	NM_000212.3(ITGB3):c.655G>A (p.Val219Met) GRCh37: Chr17:45363666 GRCh38: Chr17:47286300	ITGB3, LOC130061043	V219M	Glanzmann thrombasthenia	Likely pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 249834747.	NM_000419.5(ITGA2B):c.310+1G>A GRCh37: Chr17:42463377 GRCh38: Chr17:44386009	ITGA2B		Glanzmann thrombasthenia	Pathogenic (Jan 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 242200848.	NM_000419.5(ITGA2B):c.1558A>T (p.Met520Leu) GRCh37: Chr17:42457656 GRCh38: Chr17:44380288	ITGA2B	M520L	Glanzmann thrombasthenia	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 241830049.	NM_000419.5(ITGA2B):c.2562C>A (p.Gly854=) GRCh37: Chr17:42453240 GRCh38: Chr17:44375872	ITGA2B		Glanzmann thrombasthenia	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 241662650.	NM_000419.5(ITGA2B):c.1196G>A (p.Arg399Gln) GRCh37: Chr17:42460875 GRCh38: Chr17:44383507	ITGA2B	R399Q	not provided, Glanzmann thrombasthenia	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220022551.	NM_000419.5(ITGA2B):c.2033C>T (p.Ala678Val) GRCh37: Chr17:42455791 GRCh38: Chr17:44378423	ITGA2B	A678V	Glanzmann thrombasthenia	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 219864652.	NM_000419.5(ITGA2B):c.799+20C>T GRCh37: Chr17:42462296 GRCh38: Chr17:44384928	ITGA2B		Glanzmann thrombasthenia	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 219640953.	NM_000419.5(ITGA2B):c.1110G>A (p.Ala370=) GRCh37: Chr17:42460961 GRCh38: Chr17:44383593	ITGA2B		Glanzmann thrombasthenia	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 219460754.	NM_000419.5(ITGA2B):c.804C>T (p.Tyr268=) GRCh37: Chr17:42461949 GRCh38: Chr17:44384581	ITGA2B		Glanzmann thrombasthenia	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 219298855.	NM_000419.5(ITGA2B):c.1298G>A (p.Arg433His) GRCh37: Chr17:42458342 GRCh38: Chr17:44380974	ITGA2B	R433H	Glanzmann thrombasthenia	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 219033956.	NM_000419.5(ITGA2B):c.2448+17C>T GRCh37: Chr17:42453436 GRCh38: Chr17:44376068	ITGA2B		Glanzmann thrombasthenia	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 218451857.	NM_000419.5(ITGA2B):c.2646G>A (p.Pro882=) GRCh37: Chr17:42453040 GRCh38: Chr17:44375672	ITGA2B		Glanzmann thrombasthenia	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218297258.	NM_000419.5(ITGA2B):c.2767C>G (p.Leu923Val) GRCh37: Chr17:42452440 GRCh38: Chr17:44375072	ITGA2B	L923V	Glanzmann thrombasthenia	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 218295659.	NM_000419.5(ITGA2B):c.189-7T>A GRCh37: Chr17:42463506 GRCh38: Chr17:44386138	ITGA2B		Glanzmann thrombasthenia	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 218197860.	NM_000419.5(ITGA2B):c.889G>A (p.Ala297Thr) GRCh37: Chr17:42461681 GRCh38: Chr17:44384313	ITGA2B	A297T	Glanzmann thrombasthenia	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 218161361.	NM_000419.5(ITGA2B):c.3061-5C>T GRCh37: Chr17:42449796 GRCh38: Chr17:44372428	ITGA2B		Glanzmann thrombasthenia	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 218111262.	NM_000212.3(ITGB3):c.473A>G (p.Gln158Arg) GRCh37: Chr17:45361920 GRCh38: Chr17:47284554	ITGB3	Q158R	Glanzmann thrombasthenia	Uncertain significance (Jun 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 217806463.	NM_000419.5(ITGA2B):c.599C>T (p.Ala200Val) GRCh37: Chr17:42462679 GRCh38: Chr17:44385311	ITGA2B	A200V	Glanzmann thrombasthenia	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 217767864.	NM_000419.5(ITGA2B):c.2660G>A (p.Arg887Gln) GRCh37: Chr17:42453026 GRCh38: Chr17:44375658	ITGA2B	R887Q	Glanzmann thrombasthenia, Inborn genetic diseases	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217724965.	NM_000419.5(ITGA2B):c.3083G>A (p.Arg1028Gln) GRCh37: Chr17:42449769 GRCh38: Chr17:44372401	ITGA2B	R1028Q	Glanzmann thrombasthenia	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 217665866.	NM_000419.5(ITGA2B):c.2448+4T>C GRCh37: Chr17:42453449 GRCh38: Chr17:44376081	ITGA2B		Glanzmann thrombasthenia	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 217589867.	NM_000419.5(ITGA2B):c.1648C>A (p.Arg550=) GRCh37: Chr17:42457474 GRCh38: Chr17:44380106	ITGA2B		Glanzmann thrombasthenia	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 217589768.	NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn) GRCh37: Chr17:42457393 GRCh38: Chr17:44380025	ITGA2B	H577N	Glanzmann thrombasthenia	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 217580469.	NM_000419.5(ITGA2B):c.1751G>A (p.Arg584Gln) GRCh37: Chr17:42457371 GRCh38: Chr17:44380003	ITGA2B	R584Q	Glanzmann thrombasthenia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 217406070.	NM_000419.5(ITGA2B):c.3061-13C>T GRCh37: Chr17:42449804 GRCh38: Chr17:44372436	ITGA2B		Glanzmann thrombasthenia	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217316771.	NM_000419.5(ITGA2B):c.2568G>T (p.Gln856His) GRCh37: Chr17:42453234 GRCh38: Chr17:44375866	ITGA2B	Q856H	Glanzmann thrombasthenia	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 217303472.	NM_000419.5(ITGA2B):c.248G>A (p.Gly83Asp) GRCh37: Chr17:42463440 GRCh38: Chr17:44386072	ITGA2B	G83D	Inborn genetic diseases, Glanzmann thrombasthenia	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217104373.	NM_000419.5(ITGA2B):c.2480G>T (p.Gly827Val) GRCh37: Chr17:42453322 GRCh38: Chr17:44375954	ITGA2B	G827V	Glanzmann thrombasthenia	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 217034074.	NM_000419.5(ITGA2B):c.730T>C (p.Leu244=) GRCh37: Chr17:42462385 GRCh38: Chr17:44385017	ITGA2B		Glanzmann thrombasthenia	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 216976575.	NM_000419.5(ITGA2B):c.998+8G>C GRCh37: Chr17:42461254 GRCh38: Chr17:44383886	ITGA2B		Glanzmann thrombasthenia	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216971976.	NM_000419.5(ITGA2B):c.199G>A (p.Val67Met) GRCh37: Chr17:42463489 GRCh38: Chr17:44386121	ITGA2B	V67M	Glanzmann thrombasthenia	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 216914277.	NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=) GRCh37: Chr17:42452435 GRCh38: Chr17:44375067	ITGA2B		Glanzmann thrombasthenia	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 216902478.	NM_000419.5(ITGA2B):c.2268-9C>G GRCh37: Chr17:42453765 GRCh38: Chr17:44376397	ITGA2B		Glanzmann thrombasthenia	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 216266679.	NM_000419.5(ITGA2B):c.2187+6G>T GRCh37: Chr17:42455060 GRCh38: Chr17:44377692	ITGA2B		Glanzmann thrombasthenia	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 215922980.	NM_000419.5(ITGA2B):c.1879-8C>T GRCh37: Chr17:42456086 GRCh38: Chr17:44378718	ITGA2B		Glanzmann thrombasthenia	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 215690181.	NM_000419.5(ITGA2B):c.2725G>C (p.Val909Leu) GRCh37: Chr17:42452961 GRCh38: Chr17:44375593	ITGA2B	V909L	Glanzmann thrombasthenia	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215607382.	NM_000419.5(ITGA2B):c.2019G>C (p.Glu673Asp) GRCh37: Chr17:42455805 GRCh38: Chr17:44378437	ITGA2B	E673D	Inborn genetic diseases, Glanzmann thrombasthenia	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214783883.	NM_000419.5(ITGA2B):c.1944C>T (p.Ser648=) GRCh37: Chr17:42456013 GRCh38: Chr17:44378645	ITGA2B		Glanzmann thrombasthenia	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214674984.	NM_000419.5(ITGA2B):c.1384G>A (p.Gly462Arg) GRCh37: Chr17:42458256 GRCh38: Chr17:44380888	ITGA2B	G462R	Glanzmann thrombasthenia	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 213360885.	NM_000419.5(ITGA2B):c.1946+2T>G GRCh37: Chr17:42456009 GRCh38: Chr17:44378641	ITGA2B		Glanzmann thrombasthenia	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 213334986.	NM_000419.5(ITGA2B):c.941A>G (p.Glu314Gly) GRCh37: Chr17:42461457 GRCh38: Chr17:44384089	ITGA2B	E314G	Glanzmann thrombasthenia	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212772787.	NM_000419.5(ITGA2B):c.2728-20C>T GRCh37: Chr17:42452499 GRCh38: Chr17:44375131	ITGA2B		Glanzmann thrombasthenia	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 209801388.	NM_000419.5(ITGA2B):c.2575C>T (p.Pro859Ser) GRCh37: Chr17:42453227 GRCh38: Chr17:44375859	ITGA2B	P859S	Glanzmann thrombasthenia	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 209498989.	NM_000419.5(ITGA2B):c.2741C>A (p.Ala914Glu) GRCh37: Chr17:42452466 GRCh38: Chr17:44375098	ITGA2B	A914E	Glanzmann thrombasthenia	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 208558990.	NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=) GRCh37: Chr17:42455808 GRCh38: Chr17:44378440	ITGA2B		Glanzmann thrombasthenia	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 208444991.	NM_000419.5(ITGA2B):c.2348+17G>T GRCh37: Chr17:42453659 GRCh38: Chr17:44376291	ITGA2B		Glanzmann thrombasthenia	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 207881092.	NM_000419.5(ITGA2B):c.1271T>G (p.Leu424Arg) GRCh37: Chr17:42458369 GRCh38: Chr17:44381001	ITGA2B	L424R	Glanzmann thrombasthenia	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207772193.	NM_000419.5(ITGA2B):c.892-20C>T GRCh37: Chr17:42461526 GRCh38: Chr17:44384158	ITGA2B		Glanzmann thrombasthenia	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 207619094.	NM_000419.5(ITGA2B):c.1422C>T (p.Asn474=) GRCh37: Chr17:42457985 GRCh38: Chr17:44380617	ITGA2B		Glanzmann thrombasthenia	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 207447395.	NM_000419.5(ITGA2B):c.2321G>A (p.Arg774Gln) GRCh37: Chr17:42453703 GRCh38: Chr17:44376335	ITGA2B	R774Q	Glanzmann thrombasthenia	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 206566196.	NM_000419.5(ITGA2B):c.2943+18G>A GRCh37: Chr17:42452009 GRCh38: Chr17:44374641	ITGA2B		not specified, Glanzmann thrombasthenia	Benign/Likely benign (Sep 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206461497.	NM_000419.5(ITGA2B):c.998+15G>T GRCh37: Chr17:42461247 GRCh38: Chr17:44383879	ITGA2B		Glanzmann thrombasthenia	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 206308498.	NM_000419.5(ITGA2B):c.978C>T (p.Val326=) GRCh37: Chr17:42461282 GRCh38: Chr17:44383914	ITGA2B		Glanzmann thrombasthenia	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 205591399.	NM_000419.5(ITGA2B):c.2841+1GTGGG[3] GRCh37: Chr17:42452355-42452356 GRCh38: Chr17:44374987-44374988	ITGA2B		Glanzmann thrombasthenia	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 2054231100.	NM_000419.5(ITGA2B):c.2077G>A (p.Ala693Thr) GRCh37: Chr17:42455747 GRCh38: Chr17:44378379	ITGA2B	A693T	Glanzmann thrombasthenia	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter

<< First< Prev

Page of 8