ClinVar for MedGen (Select 7317) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26379351.	NM_016734.3(PAX5):c.963del (p.Ala322fs) GRCh37: Chr9:36882050 GRCh38: Chr9:36882053	PAX5	A214fs, A279fs, A322fs	Acute lymphoid leukemia	Likely pathogenic (Oct 20, 2023)	criteria provided, single submitter
Select item 25802752.	NM_016734.3(PAX5):c.263dup (p.Val90fs) GRCh37: Chr9:37015140-37015141 GRCh38: Chr9:37015143-37015144	PAX5	V90fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 25802743.	NM_016734.3(PAX5):c.963dup (p.Ala322fs) GRCh37: Chr9:36882049-36882050 GRCh38: Chr9:36882052-36882053	PAX5	A214fs, A279fs, A322fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 25802734.	NM_016734.3(PAX5):c.134_147del (p.Ala45fs) GRCh37: Chr9:37020698-37020711 GRCh38: Chr9:37020701-37020714	PAX5	A45fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 25802725.	NM_016734.3(PAX5):c.967G>T (p.Gly323Ter) GRCh37: Chr9:36882046 GRCh38: Chr9:36882049	PAX5	G215, G280, G323*	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 25802716.	NM_016734.3(PAX5):c.388C>A (p.Pro130Thr) GRCh37: Chr9:37015016 GRCh38: Chr9:37015019	PAX5	P130T, P22T	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 25802707.	NM_016734.3(PAX5):c.197G>A (p.Ser66Asn) GRCh37: Chr9:37020648 GRCh38: Chr9:37020651	PAX5	S66N	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 25802698.	NM_182918.4(ERG):c.571_572insGGA (p.His191delinsArgAsn) GRCh37: Chr21:39775448-39775449 GRCh38: Chr21:38403526-38403527	ERG		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 25802689.	NM_182918.4(ERG):c.1088A>G (p.Asp363Gly) GRCh37: Chr21:39755677 GRCh38: Chr21:38383755	ERG	D247G, D271G, D339G, D346G, D363G, D370G	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258026710.	NM_182918.4(ERG):c.1087G>A (p.Asp363Asn) GRCh37: Chr21:39755678 GRCh38: Chr21:38383756	ERG	D247N, D271N, D339N, D346N, D363N, D370N	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258026611.	NM_182918.4(ERG):c.1102G>A (p.Ala368Thr) GRCh37: Chr21:39755663 GRCh38: Chr21:38383741	ERG	A252T, A276T, A344T, A351T, A368T, A375T	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258026512.	NM_182918.4(ERG):c.657G>A (p.Met219Ile) GRCh37: Chr21:39774495 GRCh38: Chr21:38402573	ERG	M127I, M219I, M226I	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258026413.	NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter) GRCh37: Chr9:36846866 GRCh38: Chr9:36846869	PAX5	G281R, W250, W258, W315, W324, W358*	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258026314.	NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser) GRCh37: Chr9:22008822 GRCh38: Chr9:22008823	CDKN2B, CDKN2B-AS1, LOC130001608	N44S	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258026215.	NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs) GRCh37: Chr9:21971173-21971184 GRCh38: Chr9:21971174-21971185	CDKN2A	S73fs, V59fs, V8fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258026116.	NM_000077.5(CDKN2A):c.151-6_151delinsC GRCh37: Chr9:21971207-21971213 GRCh38: Chr9:21971208-21971214	CDKN2A		Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258026017.	NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter) GRCh37: Chr7:50468296 GRCh38: Chr7:50400598	IKZF1	R281, R316, R326, R358, R368, R372, R382, R414, R424, R469, R511, R531	Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258025918.	NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs) GRCh37: Chr7:50444406-50444407 GRCh38: Chr7:50376708-50376709	IKZF1	P113fs, P133fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025819.	NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter) GRCh37: Chr7:50450266 GRCh38: Chr7:50382568	IKZF1	C150, C170, C63*	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025720.	NM_016734.3(PAX5):c.46+1G>A GRCh37: Chr9:37033982 GRCh38: Chr9:37033985	PAX5		Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025621.	NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs) GRCh37: Chr7:50450252-50450254 GRCh38: Chr7:50382554-50382556	IKZF1	Q146fs, Q166fs, Q59fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025522.	NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter) GRCh37: Chr7:50444341 GRCh38: Chr7:50376643	IKZF1	K111, K91	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025423.	NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr) GRCh37: Chr7:50450291 GRCh38: Chr7:50382593	IKZF1	N159Y, N179Y, N72Y	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025324.	NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs) GRCh37: Chr9:37002665-37002666 GRCh38: Chr9:37002668-37002669	LOC105376032, PAX5	N129fs, N195fs, N87fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025225.	NM_016734.3(PAX5):c.613G>T (p.Glu205Ter) GRCh37: Chr9:36966713 GRCh38: Chr9:36966716	PAX5	E139, E162, E205, E97	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025126.	NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer) GRCh37: Chr9:36846865 GRCh38: Chr9:36846868	PAX5	G281fs	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258025027.	NM_001280548.2(PAX5):c.1013-6288_1013-6274del GRCh37: Chr9:36846907-36846921 GRCh38: Chr9:36846910-36846924	PAX5		Acute lymphoid leukemia	Uncertain significance (Sep 23, 2023)	criteria provided, single submitter
Select item 258024928.	NM_016734.3(PAX5):c.401C>G (p.Ser134Cys) GRCh37: Chr9:37015003 GRCh38: Chr9:37015006	PAX5	S134C, S26C	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 258024829.	NM_016734.3(PAX5):c.77T>G (p.Val26Gly) GRCh37: Chr9:37020768 GRCh38: Chr9:37020771	PAX5	V26G	Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 257788530.	NM_006060.6(IKZF1):c.161-8275C>T GRCh37: Chr7:50435956 GRCh38: Chr7:50368258	IKZF1	A138V	Acute lymphoid leukemia	Uncertain significance (Aug 17, 2023)	criteria provided, single submitter
Select item 250351331.	NM_006060.6(IKZF1):c.161-8401C>T GRCh37: Chr7:50435830 GRCh38: Chr7:50368132	IKZF1	T96M	Acute lymphoid leukemia	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 197766332.	NM_006060.6(IKZF1):c.26T>C (p.Met9Thr) GRCh37: Chr7:50358683 GRCh38: Chr7:50319087	IKZF1	M9T	Acute lymphoid leukemia, not provided	Uncertain significance (Sep 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 171096133.	NM_006060.6(IKZF1):c.1178G>C (p.Ser393Thr) GRCh37: Chr7:50467943 GRCh38: Chr7:50400245	IKZF1	S163T, S198T, S208T, S240T, S250T, S254T, S264T, S296T, S306T, S351T, S393T, S413T	Acute lymphoid leukemia	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 171094334.	NM_006060.6(IKZF1):c.1405G>C (p.Val469Leu) GRCh37: Chr7:50468170 GRCh38: Chr7:50400472	IKZF1	V239L, V274L, V284L, V316L, V326L, V330L, V340L, V372L, V382L, V427L, V469L, V489L	Acute lymphoid leukemia	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 169152635.	NM_006060.6(IKZF1):c.398T>C (p.Met133Thr) GRCh37: Chr7:50444468 GRCh38: Chr7:50376770	IKZF1	M133T	not provided, Acute lymphoid leukemia	Uncertain significance (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156266636.	NM_002074.5(GNB1):c.402C>T (p.Arg134=) GRCh37: Chr1:1735886 GRCh38: Chr1:1804447	GNB1		not provided, Acute lymphoid leukemia, Intellectual disability, autosomal dominant 42, Myelodysplastic syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145016137.	NM_002485.5(NBN):c.857A>G (p.Gln286Arg) GRCh37: Chr8:90982631 GRCh38: Chr8:89970403	NBN	Q286R, Q204R	Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Aplastic anemia, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139593738.	NM_002485.5(NBN):c.135T>A (p.His45Gln) GRCh37: Chr8:90994986 GRCh38: Chr8:89982758	NBN	H45Q	Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134212639.	NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) GRCh37: Chr7:50444317 GRCh38: Chr7:50376619	IKZF1	R83*	not provided, Acute lymphoid leukemia	Pathogenic (Sep 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133264840.	NM_002485.5(NBN):c.697A>C (p.Lys233Gln) GRCh37: Chr8:90983406 GRCh38: Chr8:89971178	NBN	K151Q, K233Q	Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 132757841.	NM_006060.6(IKZF1):c.1034G>A (p.Ser345Asn) GRCh37: Chr7:50467799 GRCh38: Chr7:50400101	IKZF1	S115N, S150N, S160N, S192N, S202N, S206N, S216N, S248N, S258N, S303N, S345N	Acute lymphoid leukemia	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 132028042.	NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) GRCh37: Chr7:50467812 GRCh38: Chr7:50400114	IKZF1	Q119H, Q154H, Q164H, Q196H, Q206H, Q210H, Q220H, Q252H, Q262H, Q307H, Q349H	Pancytopenia due to IKZF1 mutations, Acute lymphoid leukemia	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130653443.	NM_002485.5(NBN):c.1783A>G (p.Met595Val) GRCh37: Chr8:90965534 GRCh38: Chr8:89953306	NBN	M513V, M595V	not provided, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 128554044.	NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) GRCh37: Chr7:50450346 GRCh38: Chr7:50382648	IKZF1	L177P, L90P	Pancytopenia due to IKZF1 mutations, Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107375645.	NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) GRCh37: Chr8:90970971 GRCh38: Chr8:89958743	NBN	S287, S369	Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency	Pathogenic/Likely pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78063346.	NM_004327.4(BCR):c.606C>T (p.Ser202=) GRCh37: Chr22:23523753 GRCh38: Chr22:23181566	BCR		Acute lymphoid leukemia, Chronic myelogenous leukemia, BCR-ABL1 positive, not provided	Benign/Likely benign (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77548947.	NM_002074.5(GNB1):c.462C>T (p.Asp154=) GRCh37: Chr1:1724719 GRCh38: Chr1:1793280	GNB1		Acute lymphoid leukemia, Intellectual disability, autosomal dominant 42, Myelodysplastic syndrome, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65210548.	NM_002485.5(NBN):c.76G>T (p.Val26Phe) GRCh37: Chr8:90995045 GRCh38: Chr8:89982817	NBN	V26F	Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63021749.	NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) GRCh37: Chr8:90965860 GRCh38: Chr8:89953632	NBN	S486F, S404F	Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62606550.	NM_004327.4(BCR):c.1149C>T (p.Pro383=) GRCh37: Chr22:23524296 GRCh38: Chr22:23182109	BCR		Chronic myelogenous leukemia, BCR-ABL1 positive, Acute lymphoid leukemia	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 62598451.	NM_002485.5(NBN):c.390A>G (p.Gln130=) GRCh37: Chr8:90993052 GRCh38: Chr8:89980824	NBN		Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Hereditary cancer-predisposing syndrome, not provided, not specified, Microcephaly, normal intelligence and immunodeficiency	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 62589552.	NM_004327.4(BCR):c.685C>T (p.Pro229Ser) GRCh37: Chr22:23523832 GRCh38: Chr22:23181645	BCR	P229S	Chronic myelogenous leukemia, BCR-ABL1 positive, Acute lymphoid leukemia	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 62589453.	NM_004327.4(BCR):c.2356G>A (p.Ala786Thr) GRCh37: Chr22:23627338 GRCh38: Chr22:23285151	BCR	A786T	Chronic myelogenous leukemia, BCR-ABL1 positive, Acute lymphoid leukemia	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 62459054.	NM_016734.3(PAX5):c.239C>G (p.Pro80Arg) GRCh37: Chr9:37015165 GRCh38: Chr9:37015168	PAX5		Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 58756355.	NM_016734.3(PAX5):c.435G>C (p.Gln145His) GRCh37: Chr9:37006510 GRCh38: Chr9:37006513	LOC105376032, PAX5	Q145H, Q37H, Q79H	Acute lymphoid leukemia	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 56801356.	NM_002485.5(NBN):c.976C>G (p.Gln326Glu) GRCh37: Chr8:90976656 GRCh38: Chr8:89964428	NBN	Q326E, Q244E	Hereditary cancer-predisposing syndrome, not specified, Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49207957.	NM_002485.5(NBN):c.1124+19C>T GRCh37: Chr8:90970934 GRCh38: Chr8:89958706	NBN		not specified, Hereditary breast ovarian cancer syndrome, not provided, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49005658.	NM_002485.5(NBN):c.37+11A>G GRCh37: Chr8:90996742 GRCh38: Chr8:89984514	NBN		Acute lymphoid leukemia, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, not specified, Hereditary breast ovarian cancer syndrome, Acute lymphoid leukemia, not provided, Microcephaly, normal intelligence and immunodeficiency	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 48592459.	NM_002485.5(NBN):c.431C>T (p.Thr144Ile) GRCh37: Chr8:90993011 GRCh38: Chr8:89980783	NBN	T144I, T62I	Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 48592060.	NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) GRCh37: Chr8:90967629 GRCh38: Chr8:89955401	NBN	P427T, P345T	Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48399961.	NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) GRCh37: Chr8:90965666-90965669 GRCh38: Chr8:89953438-89953441	NBN	K468fs, K550fs	Hereditary cancer-predisposing syndrome, not provided, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48187162.	NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) GRCh37: Chr8:90983500-90983512 GRCh38: Chr8:89971272-89971284	NBN	P116fs, P198fs	Hereditary cancer-predisposing syndrome, not provided, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Inborn genetic diseases	Pathogenic/Likely pathogenic (Aug 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 48004963.	NM_002485.5(NBN):c.515T>C (p.Val172Ala) GRCh37: Chr8:90990517 GRCh38: Chr8:89978289	NBN	V172A, V90A	Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46349164.	NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro) GRCh37: Chr9:21971123 GRCh38: Chr9:21971124	CDKN2A	H93P, T79P, T28P	Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, Familial melanoma	Uncertain significance (Sep 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 46157865.	NM_002485.5(NBN):c.727G>C (p.Val243Leu) GRCh37: Chr8:90982761 GRCh38: Chr8:89970533	NBN	V243L, V161L	Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46157066.	NM_002485.5(NBN):c.503G>A (p.Gly168Glu) GRCh37: Chr8:90990529 GRCh38: Chr8:89978301	NBN	G168E, G86E	not specified, Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46149367.	NM_002485.5(NBN):c.11T>G (p.Leu4Arg) GRCh37: Chr8:90996779 GRCh38: Chr8:89984551	NBN	L4R	Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Aug 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45114868.	NM_002485.5(NBN):c.481-2A>T GRCh37: Chr8:90990553 GRCh38: Chr8:89978325	NBN		Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42471369.	NM_002485.4(NBN):c.[1030C>T];[842T>G]			Microcephaly, normal intelligence and immunodeficiency	Pathogenic	no assertion criteria provided
Select item 42018870.	NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) GRCh37: Chr8:90971017 GRCh38: Chr8:89958789	NBN	P354S, P272S	Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, not provided, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41689071.	NM_002485.5(NBN):c.481-4G>A GRCh37: Chr8:90990555 GRCh38: Chr8:89978327	NBN		Acute lymphoid leukemia, Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41688572.	NM_002485.5(NBN):c.540C>T (p.Phe180=) GRCh37: Chr8:90990492 GRCh38: Chr8:89978264	NBN		Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41178973.	NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) GRCh37: Chr8:90965563 GRCh38: Chr8:89953335	NBN	E585G, E503G	not specified, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Hereditary cancer-predisposing syndrome, not provided, Microcephaly, normal intelligence and immunodeficiency	Conflicting interpretations of pathogenicity (Mar 17, 2023)	criteria provided, conflicting interpretations
Select item 41175674.	NM_002485.5(NBN):c.1397+1del GRCh37: Chr8:90967510 GRCh38: Chr8:89955282	NBN		not provided, Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia	Pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37823675.	NM_002485.5(NBN):c.995-17A>G GRCh37: Chr8:90971099 GRCh38: Chr8:89958871	NBN		Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Acute lymphoid leukemia, not specified	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37112176.	NM_002485.5(NBN):c.156_157del (p.Ser53fs) GRCh37: Chr8:90994964-90994965 GRCh38: Chr8:89982736-89982737	NBN		not provided, Hereditary cancer-predisposing syndrome, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Hereditary breast ovarian cancer syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, See cases	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37089877.	NM_002485.5(NBN):c.317dup (p.Arg107fs) GRCh37: Chr8:90993605-90993606 GRCh38: Chr8:89981377-89981378	NBN	R107fs, R25fs	Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia	Pathogenic/Likely pathogenic (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37021378.	NM_002485.5(NBN):c.265C>T (p.Arg89Ter) GRCh37: Chr8:90993658 GRCh38: Chr8:89981430	NBN	R89, R7	Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, Aplastic anemia, not provided	Pathogenic/Likely pathogenic (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25877079.	NM_002485.5(NBN):c.703-18G>A GRCh37: Chr8:90982803 GRCh38: Chr8:89970575	NBN		Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, not specified, not provided, Hereditary breast ovarian cancer syndrome	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25876980.	NM_002485.5(NBN):c.2071-30A>T GRCh37: Chr8:90955624 GRCh38: Chr8:89943396	NBN		not specified, not provided, Hereditary breast ovarian cancer syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25876881.	NM_002485.5(NBN):c.1915-7A>G GRCh37: Chr8:90958530 GRCh38: Chr8:89946302	NBN		Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, not specified, not provided, Hereditary breast ovarian cancer syndrome	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23921082.	NM_002485.5(NBN):c.929T>C (p.Ile310Thr) GRCh37: Chr8:90976703 GRCh38: Chr8:89964475	NBN	I310T, I228T	Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23170883.	NM_002485.5(NBN):c.361G>C (p.Asp121His) GRCh37: Chr8:90993081 GRCh38: Chr8:89980853	NBN	D121H, D39H	Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22471584.	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) GRCh37: Chr1:1737942 GRCh38: Chr1:1806503	GNB1	I80N	Acute lymphoid leukemia, Intellectual disability, autosomal dominant 42, not provided	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22471185.	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) GRCh37: Chr1:1737954 GRCh38: Chr1:1806515	GNB1	D76G	not provided	Pathogenic (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21964486.	NM_002485.5(NBN):c.340G>T (p.Val114Phe) GRCh37: Chr8:90993102 GRCh38: Chr8:89980874	NBN	V114F, V32F	Microcephaly, normal intelligence and immunodeficiency, not specified, Hereditary cancer-predisposing syndrome, not provided, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia	Uncertain significance (Jun 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21953387.	NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) GRCh37: Chr8:90965570 GRCh38: Chr8:89953342	NBN	Q583, Q501	Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, not provided	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21944088.	NM_002485.5(NBN):c.897-2A>T GRCh37: Chr8:90976737 GRCh38: Chr8:89964509	NBN		Hereditary cancer-predisposing syndrome, NBN-related condition, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, not provided	Likely pathogenic (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21656389.	NM_002485.5(NBN):c.1247T>C (p.Met416Thr) GRCh37: Chr8:90967661 GRCh38: Chr8:89955433	NBN	M416T, M334T	Hereditary cancer-predisposing syndrome, not provided, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia, not specified, Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Sep 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21608690.	NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) GRCh37: Chr8:90993711-90993712 GRCh38: Chr8:89981483-89981484	NBN	N71fs	Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19908091.	NM_002485.5(NBN):c.1124+18C>T GRCh37: Chr8:90970935 GRCh38: Chr8:89958707	NBN		not provided, not specified, Hereditary breast ovarian cancer syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19024192.	NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) GRCh37: Chr12:12037415 GRCh38: Chr12:11884481	ETV6, LOC126861452	L349P	Acute lymphoid leukemia, Thrombocytopenia, Thrombocytopenia	Pathogenic (Mar 17, 2015)	no assertion criteria provided
Select item 19024093.	NM_001413917.1(ETV6):c.1010-5011_1010-5007del GRCh37: Chr12:12038855-12038859 GRCh38: Chr12:11885921-11885925	ETV6		Inborn genetic diseases, See cases	Pathogenic (Aug 31, 2017)	criteria provided, single submitter
Select item 19022994.	NM_002485.4(NBN):c.1030C>T GRCh37: Chr8:90971047 GRCh38: Chr8:89958819	NBN	Q344, Q262	Aplastic anemia, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome, not provided, Microcephaly, normal intelligence and immunodeficiency	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18723695.	NM_002485.5(NBN):c.260T>C (p.Phe87Ser) GRCh37: Chr8:90993663 GRCh38: Chr8:89981435	NBN	F87S, F5S	Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia	Uncertain significance (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18673696.	NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) GRCh37: Chr8:90965833-90965834 GRCh38: Chr8:89953605-89953606	NBN	P413fs, P495fs	Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, not provided	Pathogenic/Likely pathogenic (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18635097.	NM_002485.5(NBN):c.683T>G (p.Ile228Arg) GRCh37: Chr8:90983420 GRCh38: Chr8:89971192	NBN	I228R, I146R	Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency, not specified, not provided	Uncertain significance (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18388698.	NM_002485.5(NBN):c.2247T>C (p.Tyr749=) GRCh37: Chr8:90947828 GRCh38: Chr8:89935600	NBN		Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome, Acute lymphoid leukemia, not specified, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18378199.	NM_002485.5(NBN):c.804G>A (p.Thr268=) GRCh37: Chr8:90982684 GRCh38: Chr8:89970456	NBN		Hereditary cancer-predisposing syndrome, not specified, Microcephaly, normal intelligence and immunodeficiency, not provided, Hereditary breast ovarian cancer syndrome, Acute lymphoid leukemia	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 183701100.	NM_002485.5(NBN):c.1197T>C (p.Asp399=) GRCh37: Chr8:90967711 GRCh38: Chr8:89955483	NBN		Hereditary cancer-predisposing syndrome, not specified, not provided, Hereditary breast ovarian cancer syndrome, Acute lymphoid leukemia, Microcephaly, normal intelligence and immunodeficiency	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts

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