ClinVar for MedGen (Select 182961) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24219671.	NM_024408.4(NOTCH2):c.1108+18G>A GRCh37: Chr1:120512116 GRCh38: Chr1:119969493	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 24217622.	NM_024408.4(NOTCH2):c.1550A>G (p.Gln517Arg) GRCh37: Chr1:120509016 GRCh38: Chr1:119966393	NOTCH2	Q517R	Hajdu-Cheney syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 24200943.	NM_024408.4(NOTCH2):c.5311-7C>G GRCh37: Chr1:120463027 GRCh38: Chr1:119920404	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 24195814.	NM_024408.4(NOTCH2):c.1568-18C>T GRCh37: Chr1:120508207 GRCh38: Chr1:119965584	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 24189995.	NM_024408.4(NOTCH2):c.4080C>T (p.Thr1360=) GRCh37: Chr1:120468359 GRCh38: Chr1:119925736	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 24182376.	NM_024408.4(NOTCH2):c.5683C>A (p.Arg1895Ser) GRCh37: Chr1:120462033 GRCh38: Chr1:119919410	NOTCH2	R1895S	Hajdu-Cheney syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24166097.	NM_024408.4(NOTCH2):c.3656-16C>G GRCh37: Chr1:120471851 GRCh38: Chr1:119929228	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 24135778.	NM_024408.4(NOTCH2):c.4511+6G>A GRCh37: Chr1:120467922 GRCh38: Chr1:119925299	NOTCH2		Hajdu-Cheney syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 22028369.	NM_024408.4(NOTCH2):c.5903C>T (p.Ala1968Val) GRCh37: Chr1:120461055 GRCh38: Chr1:119918432	NOTCH2	A1968V	Hajdu-Cheney syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 220246810.	NM_024408.4(NOTCH2):c.1454-6G>T GRCh37: Chr1:120509118 GRCh38: Chr1:119966495	NOTCH2		Hajdu-Cheney syndrome	Benign (Jul 10, 2022)	criteria provided, single submitter
Select item 220239011.	NM_024408.4(NOTCH2):c.3976C>T (p.Pro1326Ser) GRCh37: Chr1:120469151 GRCh38: Chr1:119926528	NOTCH2	P1326S	Hajdu-Cheney syndrome	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 220232112.	NM_024408.4(NOTCH2):c.7125T>C (p.Pro2375=) GRCh37: Chr1:120458220 GRCh38: Chr1:119915597	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 220174013.	NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=) GRCh37: Chr1:120493375 GRCh38: Chr1:119950752	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 220082414.	NM_024408.4(NOTCH2):c.6007C>A (p.Arg2003=) GRCh37: Chr1:120460308 GRCh38: Chr1:119917685	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 220048915.	NM_024408.4(NOTCH2):c.2274A>C (p.Lys758Asn) GRCh37: Chr1:120496257 GRCh38: Chr1:119953634	NOTCH2	K758N	Hajdu-Cheney syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 220040216.	NM_024408.4(NOTCH2):c.3499T>G (p.Phe1167Val) GRCh37: Chr1:120479928 GRCh38: Chr1:119937305	NOTCH2	F1167V	Hajdu-Cheney syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 220039517.	NM_024408.4(NOTCH2):c.4860-8T>A GRCh37: Chr1:120465409 GRCh38: Chr1:119922786	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 219875618.	NM_024408.4(NOTCH2):c.1642A>G (p.Ile548Val) GRCh37: Chr1:120508115 GRCh38: Chr1:119965492	NOTCH2	I548V	Hajdu-Cheney syndrome	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 219818619.	NM_024408.4(NOTCH2):c.2365+16C>T GRCh37: Chr1:120496150 GRCh38: Chr1:119953527	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 219817820.	NM_024408.4(NOTCH2):c.5946C>T (p.His1982=) GRCh37: Chr1:120460369 GRCh38: Chr1:119917746	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 219766321.	NM_024408.4(NOTCH2):c.7136C>T (p.Ser2379Phe) GRCh37: Chr1:120458209 GRCh38: Chr1:119915586	NOTCH2	S2379F	Hajdu-Cheney syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 219711422.	NM_024408.4(NOTCH2):c.4610A>C (p.Asp1537Ala) GRCh37: Chr1:120466509 GRCh38: Chr1:119923886	NOTCH2	D1537A	Inborn genetic diseases, Hajdu-Cheney syndrome	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219533723.	NM_024408.4(NOTCH2):c.2366-4A>G GRCh37: Chr1:120493464 GRCh38: Chr1:119950841	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 219474324.	NM_024408.4(NOTCH2):c.1437A>G (p.Thr479=) GRCh37: Chr1:120510072 GRCh38: Chr1:119967449	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 219095225.	NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser) GRCh37: Chr1:120458674 GRCh38: Chr1:119916051	NOTCH2	L2224S	Hajdu-Cheney syndrome, not provided	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219038526.	NM_024408.4(NOTCH2):c.5335G>A (p.Glu1779Lys) GRCh37: Chr1:120462996 GRCh38: Chr1:119920373	NOTCH2	E1779K	Hajdu-Cheney syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 218966027.	NM_024408.4(NOTCH2):c.1681+19T>G GRCh37: Chr1:120508057 GRCh38: Chr1:119965434	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 218932628.	NM_024408.4(NOTCH2):c.5180G>T (p.Arg1727Leu) GRCh37: Chr1:120464892 GRCh38: Chr1:119922269	NOTCH2	R1727L	Hajdu-Cheney syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 218908229.	NM_024408.4(NOTCH2):c.4494G>A (p.Gly1498=) GRCh37: Chr1:120467945 GRCh38: Chr1:119925322	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 218837930.	NM_024408.4(NOTCH2):c.4846C>G (p.Gln1616Glu) GRCh37: Chr1:120466273 GRCh38: Chr1:119923650	NOTCH2	Q1616E	Hajdu-Cheney syndrome	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 218816431.	NM_024408.4(NOTCH2):c.4341C>G (p.Ala1447=) GRCh37: Chr1:120468098 GRCh38: Chr1:119925475	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 218513232.	NM_024408.4(NOTCH2):c.7114G>A (p.Ala2372Thr) GRCh37: Chr1:120458231 GRCh38: Chr1:119915608	NOTCH2	A2372T	Hajdu-Cheney syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 218454733.	NM_024408.4(NOTCH2):c.3402C>T (p.Tyr1134=) GRCh37: Chr1:120480025 GRCh38: Chr1:119937402	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 218361634.	NM_024408.4(NOTCH2):c.4004C>T (p.Pro1335Leu) GRCh37: Chr1:120469123 GRCh38: Chr1:119926500	NOTCH2	P1335L	Hajdu-Cheney syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 218260835.	NM_024408.4(NOTCH2):c.6084C>A (p.Ile2028=) GRCh37: Chr1:120459261 GRCh38: Chr1:119916638	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 218260736.	NM_024408.4(NOTCH2):c.4243A>G (p.Thr1415Ala) GRCh37: Chr1:120468196 GRCh38: Chr1:119925573	NOTCH2	T1415A	Hajdu-Cheney syndrome	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 218071937.	NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys) GRCh37: Chr1:120462861 GRCh38: Chr1:119920238	NOTCH2	R1824C	Inborn genetic diseases, Hajdu-Cheney syndrome	Uncertain significance (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217996238.	NM_024408.4(NOTCH2):c.4511+10T>C GRCh37: Chr1:120467918 GRCh38: Chr1:119925295	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 217973739.	NM_024408.4(NOTCH2):c.4156G>A (p.Gly1386Arg) GRCh37: Chr1:120468283 GRCh38: Chr1:119925660	NOTCH2	G1386R	Hajdu-Cheney syndrome	Benign (Sep 9, 2022)	criteria provided, single submitter
Select item 217813340.	NM_024408.4(NOTCH2):c.2835G>T (p.Lys945Asn) GRCh37: Chr1:120484295 GRCh38: Chr1:119941672	NOTCH2	K945N	Hajdu-Cheney syndrome	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 217677841.	NM_024408.4(NOTCH2):c.5781+19G>A GRCh37: Chr1:120461916 GRCh38: Chr1:119919293	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 217502442.	NM_024408.4(NOTCH2):c.2099G>T (p.Gly700Val) GRCh37: Chr1:120497783 GRCh38: Chr1:119955160	NOTCH2	G700V	Hajdu-Cheney syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 217452843.	NM_024408.4(NOTCH2):c.3103C>G (p.Leu1035Val) GRCh37: Chr1:120483258 GRCh38: Chr1:119940635	NOTCH2	L1035V	Hajdu-Cheney syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 217152444.	NM_024408.4(NOTCH2):c.2027-7T>C GRCh37: Chr1:120497862 GRCh38: Chr1:119955239	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 217057245.	NM_024408.4(NOTCH2):c.1728C>T (p.Pro576=) GRCh37: Chr1:120506384 GRCh38: Chr1:119963761	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 217006346.	NM_024408.4(NOTCH2):c.4996G>A (p.Val1666Ile) GRCh37: Chr1:120465265 GRCh38: Chr1:119922642	NOTCH2	V1666I	Hajdu-Cheney syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 216887747.	NM_024408.4(NOTCH2):c.5557G>C (p.Asp1853His) GRCh37: Chr1:120462159 GRCh38: Chr1:119919536	NOTCH2	D1853H	Hajdu-Cheney syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 216784248.	NM_024408.4(NOTCH2):c.752-16G>A GRCh37: Chr1:120529721 GRCh38: Chr1:119987098	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 216782649.	NM_024408.4(NOTCH2):c.5064C>A (p.Ile1688=) GRCh37: Chr1:120465008 GRCh38: Chr1:119922385	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 216529950.	NM_024408.4(NOTCH2):c.2480-14C>T GRCh37: Chr1:120491763 GRCh38: Chr1:119949140	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 215836251.	NM_024408.4(NOTCH2):c.2666A>G (p.His889Arg) GRCh37: Chr1:120491123 GRCh38: Chr1:119948500	NOTCH2	H889R	Hajdu-Cheney syndrome	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 215835952.	NM_024408.4(NOTCH2):c.5623C>T (p.Arg1875Trp) GRCh37: Chr1:120462093 GRCh38: Chr1:119919470	NOTCH2	R1875W	Hajdu-Cheney syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215790653.	NM_024408.4(NOTCH2):c.1905A>G (p.Pro635=) GRCh37: Chr1:120506207 GRCh38: Chr1:119963584	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 215686754.	NM_024408.4(NOTCH2):c.3720G>A (p.Gln1240=) GRCh37: Chr1:120471771 GRCh38: Chr1:119929148	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 215602055.	NM_024408.4(NOTCH2):c.859C>G (p.Pro287Ala) GRCh37: Chr1:120529598 GRCh38: Chr1:119986975	NOTCH2	P287A	Hajdu-Cheney syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 215404456.	NM_024408.4(NOTCH2):c.6234T>C (p.Ser2078=) GRCh37: Chr1:120459111 GRCh38: Chr1:119916488	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 215374957.	NM_024408.4(NOTCH2):c.2016A>G (p.Pro672=) GRCh37: Chr1:120502025 GRCh38: Chr1:119959402	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 215339858.	NM_024408.4(NOTCH2):c.4001C>G (p.Pro1334Arg) GRCh37: Chr1:120469126 GRCh38: Chr1:119926503	NOTCH2	P1334R	Inborn genetic diseases, Hajdu-Cheney syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215257059.	NM_024408.4(NOTCH2):c.5401A>G (p.Arg1801Gly) GRCh37: Chr1:120462930 GRCh38: Chr1:119920307	NOTCH2	R1801G	Hajdu-Cheney syndrome	Benign (Jul 24, 2022)	criteria provided, single submitter
Select item 215221660.	NM_024408.4(NOTCH2):c.5429C>T (p.Pro1810Leu) GRCh37: Chr1:120462902 GRCh38: Chr1:119920279	NOTCH2	P1810L	Hajdu-Cheney syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 215189461.	NM_024408.4(NOTCH2):c.2292T>A (p.Asn764Lys) GRCh37: Chr1:120496239 GRCh38: Chr1:119953616	NOTCH2	N764K	Hajdu-Cheney syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 215135462.	NM_024408.4(NOTCH2):c.874+7A>G GRCh37: Chr1:120529576 GRCh38: Chr1:119986953	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215134063.	NM_024408.4(NOTCH2):c.1029C>T (p.Ala343=) GRCh37: Chr1:120512213 GRCh38: Chr1:119969590	NOTCH2		Hajdu-Cheney syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 214956364.	NM_024408.4(NOTCH2):c.3684C>T (p.Asp1228=) GRCh37: Chr1:120471807 GRCh38: Chr1:119929184	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 214728065.	NM_024408.4(NOTCH2):c.2114G>A (p.Arg705His) GRCh37: Chr1:120497768 GRCh38: Chr1:119955145	NOTCH2	R705H	Hajdu-Cheney syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 214460866.	NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu) GRCh37: Chr1:120468084 GRCh38: Chr1:119925461	NOTCH2	G1452E	Hajdu-Cheney syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 214460267.	NM_024408.4(NOTCH2):c.4742G>A (p.Arg1581Gln) GRCh37: Chr1:120466377 GRCh38: Chr1:119923754	NOTCH2	R1581Q	Hajdu-Cheney syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214455368.	NM_024408.4(NOTCH2):c.2753-8T>A GRCh37: Chr1:120484385 GRCh38: Chr1:119941762	NOTCH2		Hajdu-Cheney syndrome	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 214283769.	NM_024408.4(NOTCH2):c.6238C>G (p.Leu2080Val) GRCh37: Chr1:120459107 GRCh38: Chr1:119916484	NOTCH2	L2080V	Hajdu-Cheney syndrome	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 214225170.	NM_024408.4(NOTCH2):c.3523-17T>C GRCh37: Chr1:120478244 GRCh38: Chr1:119935621	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 214201771.	NM_024408.4(NOTCH2):c.6476C>T (p.Thr2159Met) GRCh37: Chr1:120458869 GRCh38: Chr1:119916246	NOTCH2	T2159M	Hajdu-Cheney syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 214194772.	NM_024408.4(NOTCH2):c.6166C>T (p.His2056Tyr) GRCh37: Chr1:120459179 GRCh38: Chr1:119916556	NOTCH2	H2056Y	Hajdu-Cheney syndrome	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 214030073.	NM_024408.4(NOTCH2):c.4512-10C>G GRCh37: Chr1:120466617 GRCh38: Chr1:119923994	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 213925574.	NM_024408.4(NOTCH2):c.3971A>C (p.Asn1324Thr) GRCh37: Chr1:120469156 GRCh38: Chr1:119926533	NOTCH2	N1324T	Hajdu-Cheney syndrome	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 213883675.	NM_024408.4(NOTCH2):c.7126T>C (p.Phe2376Leu) GRCh37: Chr1:120458219 GRCh38: Chr1:119915596	NOTCH2	F2376L	Hajdu-Cheney syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 213454976.	NM_024408.4(NOTCH2):c.3318C>T (p.Asp1106=) GRCh37: Chr1:120480499 GRCh38: Chr1:119937876	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213412877.	NM_024408.4(NOTCH2):c.2213T>C (p.Leu738Pro) GRCh37: Chr1:120497669 GRCh38: Chr1:119955046	NOTCH2	L738P	Hajdu-Cheney syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213301978.	NM_024408.4(NOTCH2):c.3210T>A (p.Ser1070=) GRCh37: Chr1:120480607 GRCh38: Chr1:119937984	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 213173779.	NM_024408.4(NOTCH2):c.4383C>A (p.Asn1461Lys) GRCh37: Chr1:120468056 GRCh38: Chr1:119925433	NOTCH2	N1461K	Hajdu-Cheney syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213064780.	NM_024408.4(NOTCH2):c.7097C>T (p.Ala2366Val) GRCh37: Chr1:120458248 GRCh38: Chr1:119915625	NOTCH2	A2366V	Hajdu-Cheney syndrome	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 212923881.	NM_024408.4(NOTCH2):c.4470G>C (p.Leu1490=) GRCh37: Chr1:120467969 GRCh38: Chr1:119925346	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212784282.	NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter) GRCh37: Chr1:120458246 GRCh38: Chr1:119915623	NOTCH2	Q2367*	Hajdu-Cheney syndrome	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 212635583.	NM_024408.4(NOTCH2):c.2244C>G (p.Gly748=) GRCh37: Chr1:120496287 GRCh38: Chr1:119953664	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212504484.	NM_024408.4(NOTCH2):c.4771C>T (p.Pro1591Ser) GRCh37: Chr1:120466348 GRCh38: Chr1:119923725	NOTCH2	P1591S	Hajdu-Cheney syndrome	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 212468285.	NM_024408.4(NOTCH2):c.4177C>G (p.Arg1393Gly) GRCh37: Chr1:120468262 GRCh38: Chr1:119925639	NOTCH2	R1393G	Hajdu-Cheney syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 212196786.	NM_024408.4(NOTCH2):c.3493A>C (p.Ser1165Arg) GRCh37: Chr1:120479934 GRCh38: Chr1:119937311	NOTCH2	S1165R	Hajdu-Cheney syndrome	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 212162787.	NM_024408.4(NOTCH2):c.4341C>T (p.Ala1447=) GRCh37: Chr1:120468098 GRCh38: Chr1:119925475	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 212157988.	NM_024408.4(NOTCH2):c.2222A>C (p.Tyr741Ser) GRCh37: Chr1:120496309 GRCh38: Chr1:119953686	NOTCH2	Y741S	Hajdu-Cheney syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211896989.	NM_024408.4(NOTCH2):c.7405G>A (p.Val2469Ile) GRCh37: Chr1:120457940 GRCh38: Chr1:119915317	NOTCH2	V2469I	Hajdu-Cheney syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 211895990.	NM_024408.4(NOTCH2):c.7069A>G (p.Met2357Val) GRCh37: Chr1:120458276 GRCh38: Chr1:119915653	NOTCH2	M2357V	Hajdu-Cheney syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 211741991.	NM_024408.4(NOTCH2):c.6129T>A (p.Asp2043Glu) GRCh37: Chr1:120459216 GRCh38: Chr1:119916593	NOTCH2	D2043E	Hajdu-Cheney syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 211733692.	NM_024408.4(NOTCH2):c.2685C>T (p.Tyr895=) GRCh37: Chr1:120491104 GRCh38: Chr1:119948481	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211646793.	NM_024408.4(NOTCH2):c.1568-16A>G GRCh37: Chr1:120508205 GRCh38: Chr1:119965582	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 211335194.	NM_024408.4(NOTCH2):c.3566A>T (p.Asp1189Val) GRCh37: Chr1:120478184 GRCh38: Chr1:119935561	NOTCH2	D1189V	Hajdu-Cheney syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 211088095.	NM_024408.4(NOTCH2):c.4478A>G (p.Asn1493Ser) GRCh37: Chr1:120467961 GRCh38: Chr1:119925338	NOTCH2	N1493S	Hajdu-Cheney syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 210812096.	NM_024408.4(NOTCH2):c.1033G>A (p.Ala345Thr) GRCh37: Chr1:120512209 GRCh38: Chr1:119969586	NOTCH2	A345T	Hajdu-Cheney syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 210660997.	NM_024408.4(NOTCH2):c.1624C>T (p.Leu542=) GRCh37: Chr1:120508133 GRCh38: Chr1:119965510	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 210602498.	NM_024408.4(NOTCH2):c.2321A>G (p.Asn774Ser) GRCh37: Chr1:120496210 GRCh38: Chr1:119953587	NOTCH2	N774S	Inborn genetic diseases, Hajdu-Cheney syndrome	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 210278399.	NM_024408.4(NOTCH2):c.768C>T (p.Thr256=) GRCh37: Chr1:120529689 GRCh38: Chr1:119987066	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 2102486100.	NM_024408.4(NOTCH2):c.7368G>C (p.Gly2456=) GRCh37: Chr1:120457977 GRCh38: Chr1:119915354	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter

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