ClinVar for MedGen (Select 140771) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24317321.	NM_004628.5(XPC):c.1969G>T (p.Glu657Ter) GRCh37: Chr3:14197899 GRCh38: Chr3:14156399	XPC	E464, E575, E651, E657	Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic (Jan 13, 2023)	criteria provided, single submitter
Select item 24244702.	NC_000008.10:g.(?_90947810)_(90976745_?)dup GRCh37: Chr8:90947810-90976745	NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 24244693.	NC_000008.10:g.(?_90947810)_(90958533_?)dup GRCh37: Chr8:90947810-90958533	NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 24244684.	NC_000008.10:g.(?_90982582)_(90996789_?)dup GRCh37: Chr8:90982582-90996789	NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Feb 20, 2020)	criteria provided, single submitter
Select item 24244675.	NC_000008.10:g.(?_90955471)_(90996789_?)dup GRCh37: Chr8:90955471-90996789	NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 24244666.	NC_000008.10:g.(?_90970943)_(90971092_?)dup GRCh37: Chr8:90970943-90971092	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 24244657.	NC_000008.10:g.(?_90960042)_(90976745_?)del GRCh37: Chr8:90960042-90976745	NBN		Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 24244648.	NC_000008.10:g.(?_90955471)_(90958533_?)del GRCh37: Chr8:90955471-90958533	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 24244639.	NC_000008.10:g.(?_90947810)_(90960130_?)del GRCh37: Chr8:90947810-90960130	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 241542010.	NM_002485.5(NBN):c.1125-16T>G GRCh37: Chr8:90967799 GRCh38: Chr8:89955571	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 220082711.	NM_002485.5(NBN):c.1927C>T (p.Leu643Phe) GRCh37: Chr8:90958511 GRCh38: Chr8:89946283	NBN	L561F, L643F	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 219819512.	NM_002485.5(NBN):c.2235-12C>G GRCh37: Chr8:90947852 GRCh38: Chr8:89935624	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219744413.	NM_002485.5(NBN):c.171+19T>C GRCh37: Chr8:90994931 GRCh38: Chr8:89982703	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 219555014.	NM_002485.5(NBN):c.2184+18C>G GRCh37: Chr8:90955463 GRCh38: Chr8:89943235	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 219256115.	NM_002485.5(NBN):c.1397+6_1397+11del GRCh37: Chr8:90967500-90967505 GRCh38: Chr8:89955272-89955277	NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 219173516.	NM_002485.5(NBN):c.102G>T (p.Leu34_Ile35=) GRCh37: Chr8:90995019 GRCh38: Chr8:89982791	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 218933517.	NM_002485.5(NBN):c.2185-16A>G GRCh37: Chr8:90949319 GRCh38: Chr8:89937091	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 218723018.	NM_002485.5(NBN):c.2184+16G>A GRCh37: Chr8:90955465 GRCh38: Chr8:89943237	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 218566919.	NM_002485.5(NBN):c.2070+16_2070+17del GRCh37: Chr8:90958351-90958352 GRCh38: Chr8:89946123-89946124	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 218446820.	NM_002485.5(NBN):c.37+19C>A GRCh37: Chr8:90996734 GRCh38: Chr8:89984506	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 218431221.	NM_002485.5(NBN):c.1706A>G (p.Asp569Gly) GRCh37: Chr8:90965611 GRCh38: Chr8:89953383	NBN	D569G, D487G	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 217983722.	NM_002485.5(NBN):c.172-17del GRCh37: Chr8:90993768 GRCh38: Chr8:89981540	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 217542123.	NM_002485.5(NBN):c.112G>T (p.Asp38Tyr) GRCh37: Chr8:90995009 GRCh38: Chr8:89982781	NBN	D38Y	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 217188424.	NM_002485.5(NBN):c.38-13A>T GRCh37: Chr8:90995096 GRCh38: Chr8:89982868	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 216953625.	NM_002485.5(NBN):c.1218C>T (p.Ser406_Cys407=) GRCh37: Chr8:90967690 GRCh38: Chr8:89955462	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 216953526.	NM_002485.5(NBN):c.1755A>G (p.Glu585_Asp586=) GRCh37: Chr8:90965562 GRCh38: Chr8:89953334	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 216494327.	NM_002485.5(NBN):c.1398-19C>G GRCh37: Chr8:90965938 GRCh38: Chr8:89953710	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 216279228.	NM_002485.5(NBN):c.920A>C (p.Glu307Ala) GRCh37: Chr8:90976712 GRCh38: Chr8:89964484	NBN	E225A, E307A	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 216174929.	NM_002485.5(NBN):c.2152G>T (p.Glu718Ter) GRCh37: Chr8:90955513 GRCh38: Chr8:89943285	NBN	E636, E718	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 216060130.	NM_002485.5(NBN):c.1670C>A (p.Ala557Asp) GRCh37: Chr8:90965647 GRCh38: Chr8:89953419	NBN	A475D, A557D	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jul 28, 2021)	criteria provided, single submitter
Select item 215072331.	NM_002485.5(NBN):c.320+14A>G GRCh37: Chr8:90993589 GRCh38: Chr8:89981361	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 214988332.	NM_002485.5(NBN):c.37+14G>A GRCh37: Chr8:90996739 GRCh38: Chr8:89984511	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 214618233.	NM_002485.5(NBN):c.995-6T>G GRCh37: Chr8:90971088 GRCh38: Chr8:89958860	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 214490434.	NM_002485.5(NBN):c.995-29TTCT[2] GRCh37: Chr8:90971100-90971103 GRCh38: Chr8:89958872-89958875	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 213668635.	NM_002485.5(NBN):c.889C>T (p.Leu297Phe) GRCh37: Chr8:90982599 GRCh38: Chr8:89970371	NBN	L297F, L215F	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 213668536.	NM_002485.5(NBN):c.2097dup (p.Pro700fs) GRCh37: Chr8:90955567-90955568 GRCh38: Chr8:89943339-89943340	NBN	P618fs, P700fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 213528837.	NM_002485.5(NBN):c.212A>G (p.Asn71Ser) GRCh37: Chr8:90993711 GRCh38: Chr8:89981483	NBN	N71S	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 213498038.	NM_002485.5(NBN):c.1180A>C (p.Arg394_Met395=) GRCh37: Chr8:90967728 GRCh38: Chr8:89955500	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213388439.	NM_002485.5(NBN):c.654A>G (p.Arg218_Lys219=) GRCh37: Chr8:90983449 GRCh38: Chr8:89971221	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213279140.	NM_002485.5(NBN):c.97A>C (p.Ile33Leu) GRCh37: Chr8:90995024 GRCh38: Chr8:89982796	NBN	I33L	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213190841.	NM_002485.5(NBN):c.1846-17_1846-11del GRCh37: Chr8:90960131-90960137 GRCh38: Chr8:89947903-89947909	LOC126860438, NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213190642.	NM_002485.5(NBN):c.705T>G (p.His235Gln) GRCh37: Chr8:90982783 GRCh38: Chr8:89970555	NBN	H153Q, H235Q	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213002943.	NM_002485.5(NBN):c.635T>C (p.Leu212Pro) GRCh37: Chr8:90983468 GRCh38: Chr8:89971240	NBN	L130P, L212P	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 212917544.	NM_002485.5(NBN):c.498T>C (p.Ile166_Cys167=) GRCh37: Chr8:90990534 GRCh38: Chr8:89978306	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212758045.	NM_002485.5(NBN):c.1008A>C (p.Thr336_Thr337=) GRCh37: Chr8:90971069 GRCh38: Chr8:89958841	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 212624046.	NM_002485.5(NBN):c.857dup (p.Lys287fs) GRCh37: Chr8:90982630-90982631 GRCh38: Chr8:89970402-89970403	NBN	K205fs, K287fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 212599347.	NM_002485.5(NBN):c.1394A>G (p.Lys465Arg) GRCh37: Chr8:90967514 GRCh38: Chr8:89955286	NBN	K383R, K465R	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212578948.	NM_002485.5(NBN):c.1702A>G (p.Lys568Glu) GRCh37: Chr8:90965615 GRCh38: Chr8:89953387	NBN	K486E, K568E	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212558149.	NM_002485.5(NBN):c.1914+1G>T GRCh37: Chr8:90960051 GRCh38: Chr8:89947823	LOC126860438, NBN		Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212461950.	NM_002485.5(NBN):c.1845+9C>G GRCh37: Chr8:90965463 GRCh38: Chr8:89953235	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212400151.	NM_002485.5(NBN):c.1221C>G (p.Cys407Trp) GRCh37: Chr8:90967687 GRCh38: Chr8:89955459	NBN	C325W, C407W	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 212330552.	NM_002485.5(NBN):c.1621G>A (p.Ala541Thr) GRCh37: Chr8:90965696 GRCh38: Chr8:89953468	NBN	A541T, A459T	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212308053.	NM_002485.5(NBN):c.1845+2T>G GRCh37: Chr8:90965470 GRCh38: Chr8:89953242	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 212258854.	NM_002485.5(NBN):c.897-16T>C GRCh37: Chr8:90976751 GRCh38: Chr8:89964523	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 212248255.	NM_002485.5(NBN):c.38-7A>T GRCh37: Chr8:90995090 GRCh38: Chr8:89982862	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212240556.	NM_002485.5(NBN):c.247dup (p.Met83fs) GRCh37: Chr8:90993675-90993676 GRCh38: Chr8:89981447-89981448	NBN	M1fs, M83fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 212126057.	NM_002485.5(NBN):c.1503G>T (p.Trp501Cys) GRCh37: Chr8:90965814 GRCh38: Chr8:89953586	NBN	W419C, W501C	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 212124758.	NM_002485.5(NBN):c.1556A>G (p.Asp519Gly) GRCh37: Chr8:90965761 GRCh38: Chr8:89953533	NBN	D437G, D519G	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212099459.	NM_002485.5(NBN):c.979_980del (p.Gly327fs) GRCh37: Chr8:90976652-90976653 GRCh38: Chr8:89964424-89964425	NBN	G327fs, G245fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Apr 3, 2022)	criteria provided, single submitter
Select item 212014560.	NM_002485.5(NBN):c.331G>C (p.Glu111Gln) GRCh37: Chr8:90993111 GRCh38: Chr8:89980883	NBN	E111Q, E29Q	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 212013861.	NM_002485.5(NBN):c.729C>G (p.Val243_Phe244=) GRCh37: Chr8:90982759 GRCh38: Chr8:89970531	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211810862.	NM_002485.5(NBN):c.736G>T (p.Gly246Cys) GRCh37: Chr8:90982752 GRCh38: Chr8:89970524	NBN	G164C, G246C	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 211779563.	NM_002485.5(NBN):c.722C>T (p.Ala241Val) GRCh37: Chr8:90982766 GRCh38: Chr8:89970538	NBN	A159V, A241V	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211642764.	NM_002485.5(NBN):c.832_835del (p.Ser278fs) GRCh37: Chr8:90982653-90982656 GRCh38: Chr8:89970425-89970428	NBN	S196fs, S278fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 211595965.	NM_002485.5(NBN):c.2070+11C>T GRCh37: Chr8:90958357 GRCh38: Chr8:89946129	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211507566.	NM_002485.5(NBN):c.362A>T (p.Asp121Val) GRCh37: Chr8:90993080 GRCh38: Chr8:89980852	NBN	D121V, D39V	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211502167.	NM_002485.5(NBN):c.2185-17T>C GRCh37: Chr8:90949320 GRCh38: Chr8:89937092	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 211324268.	NM_002485.5(NBN):c.2239A>G (p.Asn747Asp) GRCh37: Chr8:90947836 GRCh38: Chr8:89935608	NBN	N665D, N747D	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 211137069.	NM_002485.5(NBN):c.956C>T (p.Thr319Ile) GRCh37: Chr8:90976676 GRCh38: Chr8:89964448	NBN	T237I, T319I	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211065970.	NM_002485.5(NBN):c.1583T>A (p.Leu528Ter) GRCh37: Chr8:90965734 GRCh38: Chr8:89953506	NBN	L528, L446	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 211016171.	NM_002485.5(NBN):c.409G>A (p.Gly137Arg) GRCh37: Chr8:90993033 GRCh38: Chr8:89980805	NBN	G137R, G55R	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210991872.	NM_002485.5(NBN):c.353del (p.Ser118fs) GRCh37: Chr8:90993089 GRCh38: Chr8:89980861	NBN	S36fs, S118fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210858873.	NM_002485.5(NBN):c.855T>A (p.Cys285Ter) GRCh37: Chr8:90982633 GRCh38: Chr8:89970405	NBN	C285, C203	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 210810374.	NM_002485.5(NBN):c.1769G>A (p.Arg590Lys) GRCh37: Chr8:90965548 GRCh38: Chr8:89953320	NBN	R508K, R590K	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 210657575.	NM_002485.5(NBN):c.526T>A (p.Tyr176Asn) GRCh37: Chr8:90990506 GRCh38: Chr8:89978278	NBN	Y176N, Y94N	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 210647476.	NM_002485.5(NBN):c.2108T>G (p.Ile703Ser) GRCh37: Chr8:90955557 GRCh38: Chr8:89943329	NBN	I621S, I703S	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210567577.	NM_002485.5(NBN):c.9A>G (p.Lys3_Leu4=) GRCh37: Chr8:90996781 GRCh38: Chr8:89984553	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210484878.	NM_002485.5(NBN):c.1064G>A (p.Ser355Asn) GRCh37: Chr8:90971013 GRCh38: Chr8:89958785	NBN	S273N, S355N	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210302079.	NM_002485.5(NBN):c.1011T>C (p.Thr337_Pro338=) GRCh37: Chr8:90971066 GRCh38: Chr8:89958838	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 210282380.	NM_002485.5(NBN):c.1915-16C>G GRCh37: Chr8:90958539 GRCh38: Chr8:89946311	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 210247581.	NM_002485.5(NBN):c.1124+13C>T GRCh37: Chr8:90970940 GRCh38: Chr8:89958712	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 210217782.	NM_002485.5(NBN):c.1583T>C (p.Leu528Ser) GRCh37: Chr8:90965734 GRCh38: Chr8:89953506	NBN	L446S, L528S	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210115483.	NM_002485.5(NBN):c.978G>A (p.Gln326_Gly327=) GRCh37: Chr8:90976654 GRCh38: Chr8:89964426	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 210114984.	NM_002485.5(NBN):c.1525T>A (p.Ser509Thr) GRCh37: Chr8:90965792 GRCh38: Chr8:89953564	NBN	S509T, S427T	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 210072885.	NM_002485.5(NBN):c.703-12T>A GRCh37: Chr8:90982797 GRCh38: Chr8:89970569	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209972686.	NM_002485.5(NBN):c.821G>A (p.Gly274Glu) GRCh37: Chr8:90982667 GRCh38: Chr8:89970439	NBN	G274E, G192E	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 209827687.	NM_002485.5(NBN):c.2184+9G>T GRCh37: Chr8:90955472 GRCh38: Chr8:89943244	NBN		Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209630188.	NM_002485.5(NBN):c.480+14C>G GRCh37: Chr8:90992948 GRCh38: Chr8:89980720	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209374589.	NM_002485.5(NBN):c.2160A>G (p.Glu720_Glu721=) GRCh37: Chr8:90955505 GRCh38: Chr8:89943277	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209374490.	NM_002485.5(NBN):c.584+15T>G GRCh37: Chr8:90990433 GRCh38: Chr8:89978205	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209202691.	NM_002485.5(NBN):c.171+11A>C GRCh37: Chr8:90994939 GRCh38: Chr8:89982711	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 209195992.	NM_002485.5(NBN):c.1566_1568del (p.Leu522del) GRCh37: Chr8:90965749-90965751 GRCh38: Chr8:89953521-89953523	NBN	L440del, L522del	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 209192393.	NM_002485.5(NBN):c.1042G>C (p.Val348Leu) GRCh37: Chr8:90971035 GRCh38: Chr8:89958807	NBN	V348L, V266L	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 209165594.	NM_002485.5(NBN):c.2152del (p.Glu718fs) GRCh37: Chr8:90955513 GRCh38: Chr8:89943285	NBN	E636fs, E718fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 209028495.	NM_002485.5(NBN):c.2090G>A (p.Gly697Glu) GRCh37: Chr8:90955575 GRCh38: Chr8:89943347	NBN	G697E, G615E	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 209027996.	NM_002485.5(NBN):c.480+9A>G GRCh37: Chr8:90992953 GRCh38: Chr8:89980725	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 208996897.	NM_002485.5(NBN):c.71A>G (p.Tyr24Cys) GRCh37: Chr8:90995050 GRCh38: Chr8:89982822	NBN	Y24C	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208972798.	NM_002485.5(NBN):c.2045T>G (p.Leu682Arg) GRCh37: Chr8:90958393 GRCh38: Chr8:89946165	NBN	L682R, L600R	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208972299.	NM_002485.5(NBN):c.151A>G (p.Asn51Asp) GRCh37: Chr8:90994970 GRCh38: Chr8:89982742	NBN	N51D	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 2089514100.	NM_002485.5(NBN):c.177_180del (p.Thr60fs) GRCh37: Chr8:90993743-90993746 GRCh38: Chr8:89981515-89981518	NBN	T60fs	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Jan 26, 2022)	criteria provided, single submitter

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