ClinVar for MedGen (Select 394295) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25779141.	NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter) GRCh37: Chr14:35873823 GRCh38: Chr14:35404617	NFKBIA	E10*	Ectodermal dysplasia and immunodeficiency 2	Pathogenic	criteria provided, single submitter
Select item 24246312.	NC_000014.8:g.(?_35182071)_(35873850_?)del GRCh37: Chr14:35182071-35873850	BAZ1A, CFL2, FAM177A1, NFKBIA, PPP2R3C, PRORP, PSMA6, SRP54		not provided, Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24158443.	NM_020529.3(NFKBIA):c.565T>C (p.Leu189=) GRCh37: Chr14:35872048 GRCh38: Chr14:35402842	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 24150414.	NM_020529.3(NFKBIA):c.310C>T (p.Leu104Phe) GRCh37: Chr14:35872922 GRCh38: Chr14:35403716	NFKBIA	L104F	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 21975215.	NM_020529.3(NFKBIA):c.419G>C (p.Arg140Pro) GRCh37: Chr14:35872484 GRCh38: Chr14:35403278	NFKBIA	R140P	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 21868286.	NM_020529.3(NFKBIA):c.525C>G (p.Ile175Met) GRCh37: Chr14:35872378 GRCh38: Chr14:35403172	NFKBIA	I175M	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 21851267.	NM_020529.3(NFKBIA):c.581G>A (p.Gly194Asp) GRCh37: Chr14:35872032 GRCh38: Chr14:35402826	NFKBIA	G194D	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 21826428.	NM_020529.3(NFKBIA):c.44G>A (p.Gly15Asp) GRCh37: Chr14:35873807 GRCh38: Chr14:35404601	NFKBIA	G15D	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 21809809.	NM_020529.3(NFKBIA):c.826A>G (p.Asn276Asp) GRCh37: Chr14:35871680 GRCh38: Chr14:35402474	NFKBIA	N276D	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 217905410.	NM_020529.3(NFKBIA):c.547+11C>T GRCh37: Chr14:35872345 GRCh38: Chr14:35403139	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 217598011.	NM_020529.3(NFKBIA):c.336+4C>T GRCh37: Chr14:35872892 GRCh38: Chr14:35403686	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 216934712.	NM_020529.3(NFKBIA):c.19C>T (p.Arg7Cys) GRCh37: Chr14:35873832 GRCh38: Chr14:35404626	NFKBIA	R7C	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 216322513.	NM_020529.3(NFKBIA):c.637-14C>T GRCh37: Chr14:35871883 GRCh38: Chr14:35402677	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 216149614.	NM_020529.3(NFKBIA):c.636+15C>T GRCh37: Chr14:35871962 GRCh38: Chr14:35402756	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 215561015.	NM_020529.3(NFKBIA):c.27G>A (p.Gln9=) GRCh37: Chr14:35873824 GRCh38: Chr14:35404618	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 215367816.	NM_020529.3(NFKBIA):c.636+4G>A GRCh37: Chr14:35871973 GRCh38: Chr14:35402767	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 215341517.	NM_020529.3(NFKBIA):c.904G>A (p.Glu302Lys) GRCh37: Chr14:35871602 GRCh38: Chr14:35402396	NFKBIA	E302K	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 214861918.	NM_020529.3(NFKBIA):c.848G>A (p.Ser283Asn) GRCh37: Chr14:35871658 GRCh38: Chr14:35402452	NFKBIA	S283N	Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214399519.	NM_020529.3(NFKBIA):c.509C>T (p.Pro170Leu) GRCh37: Chr14:35872394 GRCh38: Chr14:35403188	NFKBIA	P170L	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 214196420.	NM_020529.3(NFKBIA):c.752A>G (p.Tyr251Cys) GRCh37: Chr14:35871754 GRCh38: Chr14:35402548	NFKBIA	Y251C	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 213426521.	NM_020529.3(NFKBIA):c.478G>C (p.Val160Leu) GRCh37: Chr14:35872425 GRCh38: Chr14:35403219	NFKBIA	V160L	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 211349222.	NM_020529.3(NFKBIA):c.227+5G>A GRCh37: Chr14:35873619 GRCh38: Chr14:35404413	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211328323.	NM_020529.3(NFKBIA):c.750C>G (p.Gly250=) GRCh37: Chr14:35871756 GRCh38: Chr14:35402550	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 210493124.	NM_020529.3(NFKBIA):c.336+7C>T GRCh37: Chr14:35872889 GRCh38: Chr14:35403683	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210381125.	NM_020529.3(NFKBIA):c.473C>T (p.Ala158Val) GRCh37: Chr14:35872430 GRCh38: Chr14:35403224	NFKBIA	A158V	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 210329426.	NM_020529.3(NFKBIA):c.688C>G (p.Pro230Ala) GRCh37: Chr14:35871818 GRCh38: Chr14:35402612	NFKBIA	P230A	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 210003627.	NM_020529.3(NFKBIA):c.592A>G (p.Ile198Val) GRCh37: Chr14:35872021 GRCh38: Chr14:35402815	NFKBIA	I198V	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 209673428.	NM_020529.3(NFKBIA):c.410del (p.Pro137fs) GRCh37: Chr14:35872493 GRCh38: Chr14:35403287	NFKBIA	P137fs	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 208644829.	NM_020529.3(NFKBIA):c.536C>T (p.Thr179Ile) GRCh37: Chr14:35872367 GRCh38: Chr14:35403161	NFKBIA	T179I	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208434230.	NM_020529.3(NFKBIA):c.428G>A (p.Arg143Gln) GRCh37: Chr14:35872475 GRCh38: Chr14:35403269	NFKBIA	R143Q	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 208383231.	NM_020529.3(NFKBIA):c.506C>T (p.Thr169Ile) GRCh37: Chr14:35872397 GRCh38: Chr14:35403191	NFKBIA	T169I	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 206734032.	NM_020529.3(NFKBIA):c.907-6T>C GRCh37: Chr14:35871272 GRCh38: Chr14:35402066	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 204865233.	NM_020529.3(NFKBIA):c.862A>G (p.Ser288Gly) GRCh37: Chr14:35871644 GRCh38: Chr14:35402438	NFKBIA	S288G	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 204670734.	NM_020529.3(NFKBIA):c.151G>A (p.Glu51Lys) GRCh37: Chr14:35873700 GRCh38: Chr14:35404494	NFKBIA	E51K	Ectodermal dysplasia and immunodeficiency 2	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 203179935.	NM_020529.3(NFKBIA):c.227+17C>T GRCh37: Chr14:35873607 GRCh38: Chr14:35404401	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 200572036.	NM_020529.3(NFKBIA):c.912C>A (p.Pro304=) GRCh37: Chr14:35871261 GRCh38: Chr14:35402055	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200328137.	NM_020529.3(NFKBIA):c.416T>G (p.Leu139Arg) GRCh37: Chr14:35872487 GRCh38: Chr14:35403281	NFKBIA	L139R	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199331638.	NM_020529.3(NFKBIA):c.18G>A (p.Glu6=) GRCh37: Chr14:35873833 GRCh38: Chr14:35404627	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198920539.	NM_020529.3(NFKBIA):c.282C>T (p.Ile94=) GRCh37: Chr14:35872950 GRCh38: Chr14:35403744	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 197461740.	NM_020529.3(NFKBIA):c.50G>A (p.Arg17His) GRCh37: Chr14:35873801 GRCh38: Chr14:35404595	NFKBIA	R17H	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 196746041.	NM_020529.3(NFKBIA):c.509C>G (p.Pro170Arg) GRCh37: Chr14:35872394 GRCh38: Chr14:35403188	NFKBIA	P170R	Ectodermal dysplasia and immunodeficiency 2	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 195810142.	NM_020529.3(NFKBIA):c.741C>G (p.Thr247=) GRCh37: Chr14:35871765 GRCh38: Chr14:35402559	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 194665343.	NM_020529.3(NFKBIA):c.416T>C (p.Leu139Pro) GRCh37: Chr14:35872487 GRCh38: Chr14:35403281	NFKBIA	L139P	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 191632344.	NM_020529.3(NFKBIA):c.861G>A (p.Glu287=) GRCh37: Chr14:35871645 GRCh38: Chr14:35402439	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 190617245.	NM_020529.3(NFKBIA):c.532G>A (p.Ala178Thr) GRCh37: Chr14:35872371 GRCh38: Chr14:35403165	NFKBIA	A178T	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189981946.	NM_020529.3(NFKBIA):c.572C>G (p.Ser191Cys) GRCh37: Chr14:35872041 GRCh38: Chr14:35402835	NFKBIA	S191C	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 172041647.	NM_020529.3(NFKBIA):c.917A>G (p.Asp306Gly) GRCh37: Chr14:35871256 GRCh38: Chr14:35402050	NFKBIA	D306G	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 171865348.	NM_020529.3(NFKBIA):c.118G>A (p.Glu40Lys) GRCh37: Chr14:35873733 GRCh38: Chr14:35404527	NFKBIA	E40K	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 171466949.	NM_020529.3(NFKBIA):c.46C>G (p.Pro16Ala) GRCh37: Chr14:35873805 GRCh38: Chr14:35404599	NFKBIA	P16A	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 171391850.	NM_020529.3(NFKBIA):c.842C>T (p.Pro281Leu) GRCh37: Chr14:35871664 GRCh38: Chr14:35402458	NFKBIA	P281L	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 166334351.	NM_020529.3(NFKBIA):c.487C>T (p.Leu163=) GRCh37: Chr14:35872416 GRCh38: Chr14:35403210	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 164682052.	NM_020529.3(NFKBIA):c.885_896del (p.Phe295_Thr299delinsLeu) GRCh37: Chr14:35871610-35871621 GRCh38: Chr14:35402404-35402415	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 164344353.	NM_020529.3(NFKBIA):c.888G>A (p.Thr296=) GRCh37: Chr14:35871618 GRCh38: Chr14:35402412	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 163969154.	NM_020529.3(NFKBIA):c.547+18C>T GRCh37: Chr14:35872338 GRCh38: Chr14:35403132	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 162344455.	NM_020529.3(NFKBIA):c.297A>C (p.Gly99=) GRCh37: Chr14:35872935 GRCh38: Chr14:35403729	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 161933556.	NM_020529.3(NFKBIA):c.504C>T (p.Thr168=) GRCh37: Chr14:35872399 GRCh38: Chr14:35403193	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 161081157.	NM_020529.3(NFKBIA):c.441C>T (p.Pro147=) GRCh37: Chr14:35872462 GRCh38: Chr14:35403256	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 160784258.	NM_020529.3(NFKBIA):c.636+20G>A GRCh37: Chr14:35871957 GRCh38: Chr14:35402751	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 160496959.	NM_020529.3(NFKBIA):c.548-17T>C GRCh37: Chr14:35872082 GRCh38: Chr14:35402876	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 159959560.	NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys) GRCh37: Chr14:35871640 GRCh38: Chr14:35402434	NFKBIA	Y289C	Ectodermal dysplasia and immunodeficiency 2	Benign (Feb 5, 2022)	criteria provided, single submitter
Select item 159251961.	NM_020529.3(NFKBIA):c.627C>T (p.Val209=) GRCh37: Chr14:35871986 GRCh38: Chr14:35402780	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 158733862.	NM_020529.3(NFKBIA):c.669C>T (p.Leu223=) GRCh37: Chr14:35871837 GRCh38: Chr14:35402631	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 158687763.	NM_020529.3(NFKBIA):c.906+19T>C GRCh37: Chr14:35871581 GRCh38: Chr14:35402375	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (May 27, 2021)	criteria provided, single submitter
Select item 158577664.	NM_020529.3(NFKBIA):c.477C>T (p.Ser159=) GRCh37: Chr14:35872426 GRCh38: Chr14:35403220	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 158492865.	NM_020529.3(NFKBIA):c.336+20C>A GRCh37: Chr14:35872876 GRCh38: Chr14:35403670	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Benign (Feb 4, 2022)	criteria provided, single submitter
Select item 158145866.	NM_020529.3(NFKBIA):c.265C>T (p.Leu89=) GRCh37: Chr14:35872967 GRCh38: Chr14:35403761	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 158135767.	NM_020529.3(NFKBIA):c.948G>A (p.Thr316=) GRCh37: Chr14:35871225 GRCh38: Chr14:35402019	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 157849168.	NM_020529.3(NFKBIA):c.337-15C>T GRCh37: Chr14:35872581 GRCh38: Chr14:35403375	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 157750069.	NM_020529.3(NFKBIA):c.228-8C>G GRCh37: Chr14:35873012 GRCh38: Chr14:35403806	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157641570.	NM_020529.3(NFKBIA):c.328C>T (p.Leu110=) GRCh37: Chr14:35872904 GRCh38: Chr14:35403698	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 156710171.	NM_020529.3(NFKBIA):c.45C>T (p.Gly15=) GRCh37: Chr14:35873806 GRCh38: Chr14:35404600	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 156699172.	NM_020529.3(NFKBIA):c.336+19C>T GRCh37: Chr14:35872877 GRCh38: Chr14:35403671	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jun 6, 2021)	criteria provided, single submitter
Select item 156582973.	NM_020529.3(NFKBIA):c.906+16C>A GRCh37: Chr14:35871584 GRCh38: Chr14:35402378	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jun 13, 2021)	criteria provided, single submitter
Select item 156299274.	NM_020529.3(NFKBIA):c.907-15dup GRCh37: Chr14:35871280-35871281 GRCh38: Chr14:35402074-35402075	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 155966875.	NM_020529.3(NFKBIA):c.403T>G (p.Cys135Gly) GRCh37: Chr14:35872500 GRCh38: Chr14:35403294	NFKBIA	C135G	Ectodermal dysplasia and immunodeficiency 2	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 155304976.	NM_020529.3(NFKBIA):c.336+16G>C GRCh37: Chr14:35872880 GRCh38: Chr14:35403674	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 154717877.	NM_020529.3(NFKBIA):c.636+19C>T GRCh37: Chr14:35871958 GRCh38: Chr14:35402752	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153978478.	NM_020529.3(NFKBIA):c.465C>T (p.Gly155=) GRCh37: Chr14:35872438 GRCh38: Chr14:35403232	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Jul 28, 2021)	criteria provided, single submitter
Select item 152852879.	NM_020529.3(NFKBIA):c.548-5T>C GRCh37: Chr14:35872070 GRCh38: Chr14:35402864	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 152438480.	NM_020529.3(NFKBIA):c.320A>G (p.Gln107Arg) GRCh37: Chr14:35872912 GRCh38: Chr14:35403706	NFKBIA	Q107R	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 151628981.	NM_020529.3(NFKBIA):c.256G>A (p.Glu86Lys) GRCh37: Chr14:35872976 GRCh38: Chr14:35403770	NFKBIA	E86K	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 151159982.	NM_020529.3(NFKBIA):c.944T>G (p.Leu315Arg) GRCh37: Chr14:35871229 GRCh38: Chr14:35402023	NFKBIA	L315R	Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150052683.	NM_020529.3(NFKBIA):c.761A>G (p.Tyr254Cys) GRCh37: Chr14:35871745 GRCh38: Chr14:35402539	NFKBIA	Y254C	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 148851184.	NM_020529.3(NFKBIA):c.287A>G (p.Gln96Arg) GRCh37: Chr14:35872945 GRCh38: Chr14:35403739	NFKBIA	Q96R	not provided, Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Dec 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147856685.	NM_020529.3(NFKBIA):c.881A>G (p.Glu294Gly) GRCh37: Chr14:35871625 GRCh38: Chr14:35402419	NFKBIA	E294G	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 147393886.	NM_020529.3(NFKBIA):c.784A>G (p.Ser262Gly) GRCh37: Chr14:35871722 GRCh38: Chr14:35402516	NFKBIA	S262G	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 146810887.	NM_020529.3(NFKBIA):c.77T>G (p.Leu26Arg) GRCh37: Chr14:35873774 GRCh38: Chr14:35404568	NFKBIA	L26R	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 146477288.	NM_020529.3(NFKBIA):c.569C>T (p.Ala190Val) GRCh37: Chr14:35872044 GRCh38: Chr14:35402838	NFKBIA	A190V	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 146199489.	NM_020529.3(NFKBIA):c.270C>T (p.Thr90=) GRCh37: Chr14:35872962 GRCh38: Chr14:35403756	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 144896590.	NM_020529.3(NFKBIA):c.887C>T (p.Thr296Met) GRCh37: Chr14:35871619 GRCh38: Chr14:35402413	NFKBIA	T296M	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144682491.	NM_020529.3(NFKBIA):c.240G>A (p.Leu80=) GRCh37: Chr14:35872992 GRCh38: Chr14:35403786	NFKBIA		Ectodermal dysplasia and immunodeficiency 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 142490492.	NM_020529.3(NFKBIA):c.55G>A (p.Gly19Arg) GRCh37: Chr14:35873796 GRCh38: Chr14:35404590	NFKBIA	G19R	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 142447593.	NM_020529.3(NFKBIA):c.325A>C (p.Asn109His) GRCh37: Chr14:35872907 GRCh38: Chr14:35403701	NFKBIA	N109H	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 141814394.	NM_020529.3(NFKBIA):c.742T>C (p.Tyr248His) GRCh37: Chr14:35871764 GRCh38: Chr14:35402558	NFKBIA	Y248H	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 140623395.	NM_020529.3(NFKBIA):c.577C>A (p.His193Asn) GRCh37: Chr14:35872036 GRCh38: Chr14:35402830	NFKBIA	H193N	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 140468296.	NM_020529.3(NFKBIA):c.340C>G (p.Pro114Ala) GRCh37: Chr14:35872563 GRCh38: Chr14:35403357	NFKBIA	P114A	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Oct 15, 2021)	criteria provided, single submitter
Select item 139457497.	NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del) GRCh37: Chr14:35873785-35873787 GRCh38: Chr14:35404579-35404581	NFKBIA	K22del	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 139119498.	NM_020529.3(NFKBIA):c.193C>G (p.Pro65Ala) GRCh37: Chr14:35873658 GRCh38: Chr14:35404452	NFKBIA	P65A	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 137810599.	NM_020529.3(NFKBIA):c.11C>T (p.Ala4Val) GRCh37: Chr14:35873840 GRCh38: Chr14:35404634	NFKBIA	A4V	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 1376720100.	NM_020529.3(NFKBIA):c.284G>C (p.Arg95Pro) GRCh37: Chr14:35872948 GRCh38: Chr14:35403742	NFKBIA	R95P	Ectodermal dysplasia and immunodeficiency 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter

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