ClinVar for MedGen (Select 934770) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24328421.	NM_014339.7(IL17RA):c.1324A>G (p.Lys442Glu) GRCh37: Chr22:17589433 GRCh38: Chr22:17108543	IL17RA	K408E, K442E	Immunodeficiency 51	Uncertain significance (Feb 11, 2020)	criteria provided, single submitter
Select item 24279282.	NM_014339.7(IL17RA):c.1758A>G (p.Glu586=) GRCh37: Chr22:17589867 GRCh38: Chr22:17108977	IL17RA		Immunodeficiency 51	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 24240953.	NC_000022.10:g.(?_17565982)_(20052185_?)del GRCh37: Chr22:17565982-20052185	TSSK2, TUBA8, USP18, TXNRD2, UFD1, ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B		Immunodeficiency 51, Vasculitis due to ADA2 deficiency	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 24209764.	NM_014339.7(IL17RA):c.1410C>T (p.Asp470=) GRCh37: Chr22:17589519 GRCh38: Chr22:17108629	IL17RA		Immunodeficiency 51	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 24201255.	NM_014339.7(IL17RA):c.75G>A (p.Val25=) GRCh37: Chr22:17566056 GRCh38: Chr22:17085166	IL17RA		Immunodeficiency 51	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 24186586.	NM_014339.7(IL17RA):c.598+14C>T GRCh37: Chr22:17582947 GRCh38: Chr22:17102057	IL17RA		Immunodeficiency 51	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 22019987.	NM_014339.7(IL17RA):c.944-13C>G GRCh37: Chr22:17586730 GRCh38: Chr22:17105840	IL17RA		Immunodeficiency 51	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 22011908.	NM_014339.7(IL17RA):c.1799C>G (p.Ser600Cys) GRCh37: Chr22:17589908 GRCh38: Chr22:17109018	IL17RA	S600C, S566C	Immunodeficiency 51	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 21987029.	NM_014339.7(IL17RA):c.1707C>T (p.Ala569=) GRCh37: Chr22:17589816 GRCh38: Chr22:17108926	IL17RA		Immunodeficiency 51	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219769910.	NM_014339.7(IL17RA):c.943+9G>C GRCh37: Chr22:17586501 GRCh38: Chr22:17105611	IL17RA		Immunodeficiency 51	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219308911.	NM_014339.7(IL17RA):c.1047G>A (p.Gly349=) GRCh37: Chr22:17588618 GRCh38: Chr22:17107728	IL17RA, LOC126863094		Immunodeficiency 51	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 219299112.	NM_014339.7(IL17RA):c.164-19G>C GRCh37: Chr22:17578668 GRCh38: Chr22:17097778	IL17RA		Immunodeficiency 51	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 219276913.	NM_014339.7(IL17RA):c.765C>T (p.Pro255=) GRCh37: Chr22:17584386 GRCh38: Chr22:17103496	IL17RA		Immunodeficiency 51	Benign (Sep 21, 2022)	criteria provided, single submitter
Select item 219273814.	NM_014339.7(IL17RA):c.551-15T>A GRCh37: Chr22:17582871 GRCh38: Chr22:17101981	IL17RA		Immunodeficiency 51	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 218699415.	NM_014339.7(IL17RA):c.2011G>A (p.Ala671Thr) GRCh37: Chr22:17590120 GRCh38: Chr22:17109230	IL17RA	A637T, A671T	Immunodeficiency 51	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 218578016.	NM_014339.7(IL17RA):c.1983G>A (p.Ala661=) GRCh37: Chr22:17590092 GRCh38: Chr22:17109202	IL17RA		Immunodeficiency 51	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 218424517.	NM_014339.7(IL17RA):c.1772A>C (p.Tyr591Ser) GRCh37: Chr22:17589881 GRCh38: Chr22:17108991	IL17RA	Y557S, Y591S	Immunodeficiency 51	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 218369818.	NM_014339.7(IL17RA):c.1697A>G (p.Gln566Arg) GRCh37: Chr22:17589806 GRCh38: Chr22:17108916	IL17RA	Q566R, Q532R	Immunodeficiency 51	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 218255919.	NM_014339.7(IL17RA):c.1005C>T (p.Ser335=) GRCh37: Chr22:17586804 GRCh38: Chr22:17105914	IL17RA		Immunodeficiency 51	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 217784220.	NM_014339.7(IL17RA):c.9C>A (p.Ala3=) GRCh37: Chr22:17565990 GRCh38: Chr22:17085100	IL17RA		Immunodeficiency 51	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 217526621.	NM_014339.7(IL17RA):c.2296G>C (p.Gly766Arg) GRCh37: Chr22:17590405 GRCh38: Chr22:17109515	IL17RA	G732R, G766R	Immunodeficiency 51	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 217451422.	NM_014339.7(IL17RA):c.1346G>A (p.Arg449His) GRCh37: Chr22:17589455 GRCh38: Chr22:17108565	IL17RA	R415H, R449H	Inborn genetic diseases, Immunodeficiency 51	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217361523.	NM_014339.7(IL17RA):c.297A>G (p.Thr99=) GRCh37: Chr22:17578820 GRCh38: Chr22:17097930	IL17RA		Immunodeficiency 51	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 217172624.	NM_014339.7(IL17RA):c.1739G>A (p.Arg580His) GRCh37: Chr22:17589848 GRCh38: Chr22:17108958	IL17RA	R580H, R546H	Immunodeficiency 51	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 216953325.	NM_014339.7(IL17RA):c.944-5C>G GRCh37: Chr22:17586738 GRCh38: Chr22:17105848	IL17RA		Immunodeficiency 51	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 216914726.	NM_014339.7(IL17RA):c.276C>T (p.Pro92=) GRCh37: Chr22:17578799 GRCh38: Chr22:17097909	IL17RA		Immunodeficiency 51	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 216713427.	NM_014339.7(IL17RA):c.2380C>G (p.Gln794Glu) GRCh37: Chr22:17590489 GRCh38: Chr22:17109599	IL17RA	Q794E, Q760E	Immunodeficiency 51	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 216204628.	NM_014339.7(IL17RA):c.2152T>G (p.Phe718Val) GRCh37: Chr22:17590261 GRCh38: Chr22:17109371	IL17RA	F684V, F718V	Inborn genetic diseases, Immunodeficiency 51	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216115129.	NM_014339.7(IL17RA):c.17G>A (p.Ser6Asn) GRCh37: Chr22:17565998 GRCh38: Chr22:17085108	IL17RA	S6N	Immunodeficiency 51	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 216092030.	NM_014339.7(IL17RA):c.1852G>T (p.Val618Leu) GRCh37: Chr22:17589961 GRCh38: Chr22:17109071	IL17RA	V584L, V618L	Immunodeficiency 51	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 216020331.	NM_014339.7(IL17RA):c.1604G>A (p.Arg535His) GRCh37: Chr22:17589713 GRCh38: Chr22:17108823	IL17RA	R501H, R535H	Immunodeficiency 51	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 215728132.	NM_014339.7(IL17RA):c.2449G>A (p.Glu817Lys) GRCh37: Chr22:17590558 GRCh38: Chr22:17109668	IL17RA	E783K, E817K	Immunodeficiency 51	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 215228533.	NM_014339.7(IL17RA):c.370C>T (p.Arg124Cys) GRCh37: Chr22:17579724 GRCh38: Chr22:17098834	IL17RA	R124C	Immunodeficiency 51	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 215136034.	NM_014339.7(IL17RA):c.2155C>T (p.Leu719Phe) GRCh37: Chr22:17590264 GRCh38: Chr22:17109374	IL17RA	L685F, L719F	Immunodeficiency 51	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 214935135.	NM_014339.7(IL17RA):c.599-17G>C GRCh37: Chr22:17583012 GRCh38: Chr22:17102122	IL17RA		Immunodeficiency 51	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 214325436.	NM_014339.7(IL17RA):c.72C>T (p.Gly24=) GRCh37: Chr22:17566053 GRCh38: Chr22:17085163	IL17RA		Immunodeficiency 51	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 214286337.	NM_014339.7(IL17RA):c.2491G>A (p.Glu831Lys) GRCh37: Chr22:17590600 GRCh38: Chr22:17109710	IL17RA	E797K, E831K	Immunodeficiency 51	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 214209038.	NM_014339.7(IL17RA):c.2588G>C (p.Gly863Ala) GRCh37: Chr22:17590697 GRCh38: Chr22:17109807	IL17RA	G829A, G863A	Immunodeficiency 51	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 213059739.	NM_014339.7(IL17RA):c.825G>C (p.Gly275=) GRCh37: Chr22:17584446 GRCh38: Chr22:17103556	IL17RA		Immunodeficiency 51	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212885540.	NM_014339.7(IL17RA):c.1939G>A (p.Val647Met) GRCh37: Chr22:17590048 GRCh38: Chr22:17109158	IL17RA	V613M, V647M	Immunodeficiency 51	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212320141.	NM_014339.7(IL17RA):c.310+20G>A GRCh37: Chr22:17578853 GRCh38: Chr22:17097963	IL17RA		Immunodeficiency 51	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 212076542.	NM_014339.7(IL17RA):c.1467C>A (p.Asp489Glu) GRCh37: Chr22:17589576 GRCh38: Chr22:17108686	IL17RA	D489E, D455E	Immunodeficiency 51	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 211895743.	NM_014339.7(IL17RA):c.1555G>C (p.Ala519Pro) GRCh37: Chr22:17589664 GRCh38: Chr22:17108774	IL17RA	A519P, A485P	Immunodeficiency 51	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211399744.	NM_014339.7(IL17RA):c.2318T>G (p.Met773Arg) GRCh37: Chr22:17590427 GRCh38: Chr22:17109537	IL17RA	M773R, M739R	Immunodeficiency 51	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 210862745.	NM_014339.7(IL17RA):c.1383G>C (p.Arg461=) GRCh37: Chr22:17589492 GRCh38: Chr22:17108602	IL17RA		Immunodeficiency 51	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 210853846.	NM_014339.7(IL17RA):c.2273A>G (p.Gln758Arg) GRCh37: Chr22:17590382 GRCh38: Chr22:17109492	IL17RA	Q724R, Q758R	Immunodeficiency 51	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210520747.	NM_014339.7(IL17RA):c.2252T>G (p.Leu751Trp) GRCh37: Chr22:17590361 GRCh38: Chr22:17109471	IL17RA	L717W, L751W	Immunodeficiency 51	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210271148.	NM_014339.7(IL17RA):c.2109C>T (p.Cys703=) GRCh37: Chr22:17590218 GRCh38: Chr22:17109328	IL17RA		Immunodeficiency 51	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 209842549.	NM_014339.7(IL17RA):c.2276G>A (p.Ser759Asn) GRCh37: Chr22:17590385 GRCh38: Chr22:17109495	IL17RA	S725N, S759N	Immunodeficiency 51	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209278850.	NM_014339.7(IL17RA):c.462C>T (p.Asp154=) GRCh37: Chr22:17581283 GRCh38: Chr22:17100393	IL17RA		Immunodeficiency 51	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 208849251.	NM_014339.7(IL17RA):c.1818dup (p.Glu607Ter) GRCh37: Chr22:17589924-17589925 GRCh38: Chr22:17109034-17109035	IL17RA	E607, E573	Immunodeficiency 51	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208762952.	NM_014339.7(IL17RA):c.643C>T (p.His215Tyr) GRCh37: Chr22:17583073 GRCh38: Chr22:17102183	IL17RA	H215Y	Immunodeficiency 51	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208528153.	NM_014339.7(IL17RA):c.680_681insG (p.Thr228fs) GRCh37: Chr22:17583110-17583111 GRCh38: Chr22:17102220-17102221	IL17RA	T228fs	Immunodeficiency 51	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 208326854.	NM_014339.7(IL17RA):c.910C>T (p.Pro304Ser) GRCh37: Chr22:17585679 GRCh38: Chr22:17104789	IL17RA	P304S	Immunodeficiency 51	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208232455.	NM_014339.7(IL17RA):c.2098G>A (p.Gly700Ser) GRCh37: Chr22:17590207 GRCh38: Chr22:17109317	IL17RA	G666S, G700S	Immunodeficiency 51	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 208228556.	NM_014339.7(IL17RA):c.1874G>A (p.Arg625His) GRCh37: Chr22:17589983 GRCh38: Chr22:17109093	IL17RA	R591H, R625H	Immunodeficiency 51	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 208141957.	NM_014339.7(IL17RA):c.139-13C>G GRCh37: Chr22:17577939 GRCh38: Chr22:17097049	IL17RA		Immunodeficiency 51	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 207980758.	NM_014339.7(IL17RA):c.1580A>G (p.Asp527Gly) GRCh37: Chr22:17589689 GRCh38: Chr22:17108799	IL17RA	D493G, D527G	Immunodeficiency 51	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 207348859.	NM_014339.7(IL17RA):c.2148C>T (p.Val716=) GRCh37: Chr22:17590257 GRCh38: Chr22:17109367	IL17RA		Immunodeficiency 51	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207086360.	NM_014339.7(IL17RA):c.2245G>C (p.Glu749Gln) GRCh37: Chr22:17590354 GRCh38: Chr22:17109464	IL17RA	E715Q, E749Q	Immunodeficiency 51	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 207067961.	NM_014339.7(IL17RA):c.990C>T (p.Ile330=) GRCh37: Chr22:17586789 GRCh38: Chr22:17105899	IL17RA		Immunodeficiency 51	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 207010362.	NM_014339.7(IL17RA):c.2314G>A (p.Ala772Thr) GRCh37: Chr22:17590423 GRCh38: Chr22:17109533	IL17RA	A738T, A772T	Immunodeficiency 51	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 206726163.	NM_014339.7(IL17RA):c.41C>G (p.Pro14Arg) GRCh37: Chr22:17566022 GRCh38: Chr22:17085132	IL17RA	P14R	Immunodeficiency 51	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 206719164.	NM_014339.7(IL17RA):c.361A>G (p.Thr121Ala) GRCh37: Chr22:17579715 GRCh38: Chr22:17098825	IL17RA	T121A	Immunodeficiency 51	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206639665.	NM_014339.7(IL17RA):c.944-19G>A GRCh37: Chr22:17586724 GRCh38: Chr22:17105834	IL17RA		Immunodeficiency 51	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 206536666.	NM_014339.7(IL17RA):c.1891G>A (p.Ala631Thr) GRCh37: Chr22:17590000 GRCh38: Chr22:17109110	IL17RA	A597T, A631T	Immunodeficiency 51	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 205910367.	NM_014339.7(IL17RA):c.875A>G (p.Asn292Ser) GRCh37: Chr22:17585644 GRCh38: Chr22:17104754	IL17RA	N292S	Immunodeficiency 51	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 205824568.	NM_014339.7(IL17RA):c.1958A>G (p.His653Arg) GRCh37: Chr22:17590067 GRCh38: Chr22:17109177	IL17RA	H619R, H653R	Immunodeficiency 51	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 205742969.	NM_014339.7(IL17RA):c.1675C>T (p.Leu559=) GRCh37: Chr22:17589784 GRCh38: Chr22:17108894	IL17RA		Immunodeficiency 51	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 205657770.	NM_014339.7(IL17RA):c.2471C>A (p.Pro824Gln) GRCh37: Chr22:17590580 GRCh38: Chr22:17109690	IL17RA	P790Q, P824Q	Immunodeficiency 51	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 205341271.	NM_014339.7(IL17RA):c.256C>A (p.Gln86Lys) GRCh37: Chr22:17578779 GRCh38: Chr22:17097889	IL17RA	Q86K	Immunodeficiency 51	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 205211972.	NM_014339.7(IL17RA):c.1955C>G (p.Pro652Arg) GRCh37: Chr22:17590064 GRCh38: Chr22:17109174	IL17RA	P618R, P652R	Immunodeficiency 51	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204995273.	NM_014339.7(IL17RA):c.83C>T (p.Pro28Leu) GRCh37: Chr22:17566064 GRCh38: Chr22:17085174	IL17RA	P28L	Immunodeficiency 51	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 204847974.	NM_014339.7(IL17RA):c.2481A>G (p.Pro827=) GRCh37: Chr22:17590590 GRCh38: Chr22:17109700	IL17RA		Immunodeficiency 51	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 204199275.	NM_014339.7(IL17RA):c.2078G>C (p.Arg693Pro) GRCh37: Chr22:17590187 GRCh38: Chr22:17109297	IL17RA	R693P, R659P	Immunodeficiency 51	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 203297776.	NM_014339.7(IL17RA):c.1770C>T (p.Leu590=) GRCh37: Chr22:17589879 GRCh38: Chr22:17108989	IL17RA		Immunodeficiency 51	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 201905777.	NM_014339.7(IL17RA):c.1686G>T (p.Pro562=) GRCh37: Chr22:17589795 GRCh38: Chr22:17108905	IL17RA		Immunodeficiency 51	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201432078.	NM_014339.7(IL17RA):c.354G>C (p.Gln118His) GRCh37: Chr22:17579708 GRCh38: Chr22:17098818	IL17RA	Q118H	Immunodeficiency 51	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201376779.	NM_014339.7(IL17RA):c.2204C>T (p.Ala735Val) GRCh37: Chr22:17590313 GRCh38: Chr22:17109423	IL17RA	A701V, A735V	Immunodeficiency 51	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201333980.	NM_014339.7(IL17RA):c.612C>T (p.Asp204=) GRCh37: Chr22:17583042 GRCh38: Chr22:17102152	IL17RA		Immunodeficiency 51	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 201152981.	NM_014339.7(IL17RA):c.861C>T (p.Phe287=) GRCh37: Chr22:17585630 GRCh38: Chr22:17104740	IL17RA		Immunodeficiency 51	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 200485882.	NM_014339.7(IL17RA):c.599-15G>C GRCh37: Chr22:17583014 GRCh38: Chr22:17102124	IL17RA		Immunodeficiency 51	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 200390883.	NM_014339.7(IL17RA):c.1561_1565dup (p.Tyr523fs) GRCh37: Chr22:17589666-17589667 GRCh38: Chr22:17108776-17108777	IL17RA	Y489fs, Y523fs	Immunodeficiency 51	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 200228384.	NM_014339.7(IL17RA):c.332G>T (p.Gly111Val) GRCh37: Chr22:17579686 GRCh38: Chr22:17098796	IL17RA	G111V	Immunodeficiency 51	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 200004885.	NM_014339.7(IL17RA):c.205del (p.Thr69fs) GRCh37: Chr22:17578728 GRCh38: Chr22:17097838	IL17RA	T69fs	Immunodeficiency 51	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 199664686.	NM_014339.7(IL17RA):c.139-18A>C GRCh37: Chr22:17577934 GRCh38: Chr22:17097044	IL17RA		Immunodeficiency 51	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 199179487.	NM_014339.7(IL17RA):c.2511G>A (p.Arg837=) GRCh37: Chr22:17590620 GRCh38: Chr22:17109730	IL17RA		Immunodeficiency 51	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 197826688.	NM_014339.7(IL17RA):c.2014G>A (p.Ala672Thr) GRCh37: Chr22:17590123 GRCh38: Chr22:17109233	IL17RA	A638T, A672T	Immunodeficiency 51	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 197764789.	NM_014339.7(IL17RA):c.2053C>A (p.Pro685Thr) GRCh37: Chr22:17590162 GRCh38: Chr22:17109272	IL17RA	P651T, P685T	Immunodeficiency 51, Inborn genetic diseases	Uncertain significance (Jun 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197753990.	NM_014339.7(IL17RA):c.551-6C>T GRCh37: Chr22:17582880 GRCh38: Chr22:17101990	IL17RA		Immunodeficiency 51	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 197413891.	NM_014339.7(IL17RA):c.1768C>T (p.Leu590Phe) GRCh37: Chr22:17589877 GRCh38: Chr22:17108987	IL17RA	L590F, L556F	Immunodeficiency 51	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 196691892.	NM_014339.7(IL17RA):c.2416G>A (p.Glu806Lys) GRCh37: Chr22:17590525 GRCh38: Chr22:17109635	IL17RA	E772K, E806K	Immunodeficiency 51	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 196499493.	NM_014339.7(IL17RA):c.1020C>A (p.Ile340=) GRCh37: Chr22:17586819 GRCh38: Chr22:17105929	IL17RA		Immunodeficiency 51	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 196488194.	NM_014339.7(IL17RA):c.2182C>T (p.Leu728Phe) GRCh37: Chr22:17590291 GRCh38: Chr22:17109401	IL17RA	L694F, L728F	Immunodeficiency 51	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 196434595.	NM_014339.7(IL17RA):c.891C>T (p.His297=) GRCh37: Chr22:17585660 GRCh38: Chr22:17104770	IL17RA		Immunodeficiency 51	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 196089396.	NM_014339.7(IL17RA):c.2307T>C (p.Ser769=) GRCh37: Chr22:17590416 GRCh38: Chr22:17109526	IL17RA		Immunodeficiency 51	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 195994897.	NM_014339.7(IL17RA):c.931+17T>C GRCh37: Chr22:17585717 GRCh38: Chr22:17104827	IL17RA		Immunodeficiency 51	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 195728098.	NM_014339.7(IL17RA):c.1534G>A (p.Asp512Asn) GRCh37: Chr22:17589643 GRCh38: Chr22:17108753	IL17RA	D512N, D478N	Inborn genetic diseases, Immunodeficiency 51	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195545999.	NM_014339.7(IL17RA):c.896C>A (p.Ala299Glu) GRCh37: Chr22:17585665 GRCh38: Chr22:17104775	IL17RA	A299E	Immunodeficiency 51	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 1942862100.	NM_014339.7(IL17RA):c.1924G>A (p.Glu642Lys) GRCh37: Chr22:17590033 GRCh38: Chr22:17109143	IL17RA	E608K, E642K	Immunodeficiency 51	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter

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