ClinVar for MedGen (Select 766431) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24174421.	NM_006265.3(RAD21):c.741C>A (p.Ala247=) GRCh37: Chr8:117868958 GRCh38: Chr8:116856719	RAD21		Cornelia de Lange syndrome 4	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 21967342.	NM_006265.3(RAD21):c.9C>T (p.Tyr3=) GRCh37: Chr8:117878960 GRCh38: Chr8:116866721	RAD21		Cornelia de Lange syndrome 4	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 21859753.	NM_006265.3(RAD21):c.676G>A (p.Gly226Ser) GRCh37: Chr8:117869518 GRCh38: Chr8:116857279	RAD21	G226S	not provided, Cornelia de Lange syndrome 4	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21853464.	NM_006265.3(RAD21):c.815-15_815-5del GRCh37: Chr8:117868532-117868542 GRCh38: Chr8:116856293-116856303	RAD21		Cornelia de Lange syndrome 4	Benign (Oct 10, 2022)	criteria provided, single submitter
Select item 21817825.	NM_006265.3(RAD21):c.925A>G (p.Ile309Val) GRCh37: Chr8:117868417 GRCh38: Chr8:116856178	RAD21	I309V	Cornelia de Lange syndrome 4	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 21729246.	NM_006265.3(RAD21):c.12A>C (p.Ala4=) GRCh37: Chr8:117878957 GRCh38: Chr8:116866718	RAD21		Cornelia de Lange syndrome 4	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 21676727.	NM_006265.3(RAD21):c.865A>G (p.Thr289Ala) GRCh37: Chr8:117868477 GRCh38: Chr8:116856238	RAD21	T289A	Cornelia de Lange syndrome 4	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 21643478.	NM_006265.3(RAD21):c.481+8A>C GRCh37: Chr8:117870583 GRCh38: Chr8:116858344	RAD21		Cornelia de Lange syndrome 4	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 21508889.	NM_006265.3(RAD21):c.1470+13A>G GRCh37: Chr8:117864174 GRCh38: Chr8:116851935	RAD21		Cornelia de Lange syndrome 4	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 213042110.	NM_006265.3(RAD21):c.689-15C>T GRCh37: Chr8:117869025 GRCh38: Chr8:116856786	RAD21		Cornelia de Lange syndrome 4	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 212039511.	NM_006265.3(RAD21):c.948A>G (p.Thr316=) GRCh37: Chr8:117866697 GRCh38: Chr8:116854458	RAD21		Cornelia de Lange syndrome 4	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 211750812.	NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser) GRCh37: Chr8:117862939 GRCh38: Chr8:116850700	RAD21	C513S	Cornelia de Lange syndrome 4	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 210474613.	NM_006265.3(RAD21):c.714T>C (p.Asp238=) GRCh37: Chr8:117868985 GRCh38: Chr8:116856746	RAD21		Cornelia de Lange syndrome 4	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 208608314.	NM_006265.3(RAD21):c.1727C>T (p.Ala576Val) GRCh37: Chr8:117859908 GRCh38: Chr8:116847669	RAD21	A576V	Cornelia de Lange syndrome 4	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 206413215.	NM_006265.3(RAD21):c.1620+11_1620+14del GRCh37: Chr8:117862843-117862846 GRCh38: Chr8:116850604-116850607	RAD21		Cornelia de Lange syndrome 4	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 206134316.	NM_006265.3(RAD21):c.1560_1583dup (p.Glu528_Lys529insLeuLeuProGluLysGluLysGlu) GRCh37: Chr8:117862893-117862894 GRCh38: Chr8:116850654-116850655	RAD21		Cornelia de Lange syndrome 4	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 204808317.	NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro) GRCh37: Chr8:117866525 GRCh38: Chr8:116854286	RAD21	S374P	Cornelia de Lange syndrome 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204676018.	NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp) GRCh37: Chr8:117862875 GRCh38: Chr8:116850636	RAD21	E534D	Cornelia de Lange syndrome 4	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 204587619.	NM_006265.3(RAD21):c.937+10T>C GRCh37: Chr8:117868395 GRCh38: Chr8:116856156	RAD21		Cornelia de Lange syndrome 4	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 204430020.	NM_006265.3(RAD21):c.375-9_375-7del GRCh37: Chr8:117870704-117870706 GRCh38: Chr8:116858465-116858467	RAD21		Cornelia de Lange syndrome 4	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 204234421.	NM_006265.3(RAD21):c.1824T>G (p.Ala608=) GRCh37: Chr8:117859811 GRCh38: Chr8:116847572	RAD21		Cornelia de Lange syndrome 4	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 203971022.	NM_006265.3(RAD21):c.689-4del GRCh37: Chr8:117869014 GRCh38: Chr8:116856775	RAD21		Cornelia de Lange syndrome 4	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 203788823.	NM_006265.3(RAD21):c.1382_1384del (p.Thr461del) GRCh37: Chr8:117864273-117864275 GRCh38: Chr8:116852034-116852036	RAD21	T461del	Cornelia de Lange syndrome 4	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 203556124.	NM_006265.3(RAD21):c.1425A>T (p.Gly475=) GRCh37: Chr8:117864232 GRCh38: Chr8:116851993	RAD21		Cornelia de Lange syndrome 4	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 202581725.	NM_006265.3(RAD21):c.1317T>C (p.Val439=) GRCh37: Chr8:117864792 GRCh38: Chr8:116852553	RAD21		Cornelia de Lange syndrome 4	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 200436226.	NM_006265.3(RAD21):c.1130C>T (p.Ala377Val) GRCh37: Chr8:117866515 GRCh38: Chr8:116854276	RAD21	A377V	Cornelia de Lange syndrome 4	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200429327.	NM_006265.3(RAD21):c.689-17del GRCh37: Chr8:117869027 GRCh38: Chr8:116856788	RAD21		Cornelia de Lange syndrome 4	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 200229428.	NM_006265.3(RAD21):c.144+5G>A GRCh37: Chr8:117878820 GRCh38: Chr8:116866581	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200229329.	NM_006265.3(RAD21):c.482G>A (p.Gly161Asp) GRCh37: Chr8:117869712 GRCh38: Chr8:116857473	RAD21	G161D	Cornelia de Lange syndrome 4	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200181130.	NM_006265.3(RAD21):c.1045dup (p.Thr349fs) GRCh37: Chr8:117866599-117866600 GRCh38: Chr8:116854360-116854361	RAD21	T349fs	Cornelia de Lange syndrome 4	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 199174231.	NM_006265.3(RAD21):c.1895A>G (p.Ter632=) GRCh37: Chr8:117859740 GRCh38: Chr8:116847501	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 197456832.	NM_006265.3(RAD21):c.1322-14A>G GRCh37: Chr8:117864349 GRCh38: Chr8:116852110	RAD21		Cornelia de Lange syndrome 4	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 197141733.	NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro) GRCh37: Chr8:117864297-117864298 GRCh38: Chr8:116852058-116852059	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 195685134.	NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg) GRCh37: Chr8:117862885 GRCh38: Chr8:116850646	RAD21	K531R	Cornelia de Lange syndrome 4	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 190373035.	NM_006265.3(RAD21):c.623A>G (p.His208Arg) GRCh37: Chr8:117869571 GRCh38: Chr8:116857332	RAD21	H208R	Cornelia de Lange syndrome 4	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 190175536.	NM_006265.3(RAD21):c.1621-12A>T GRCh37: Chr8:117861280 GRCh38: Chr8:116849041	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 180543337.	NM_006265.3(RAD21):c.1635del (p.Gly547fs) GRCh37: Chr8:117861254 GRCh38: Chr8:116849015	RAD21	G547fs	Cornelia de Lange syndrome 4	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 180311738.	NM_006265.3(RAD21):c.548T>G (p.Leu183Ter) GRCh37: Chr8:117869646 GRCh38: Chr8:116857407	RAD21	L183*	Cornelia de Lange syndrome 4	Likely pathogenic (Mar 13, 2020)	criteria provided, single submitter
Select item 177533239.	NM_006265.3(RAD21):c.1564C>G (p.Leu522Val) GRCh37: Chr8:117862913 GRCh38: Chr8:116850674	RAD21	L522V	Cornelia de Lange syndrome 4, Inborn genetic diseases	Benign/Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172114040.	NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg) GRCh37: Chr8:117864811 GRCh38: Chr8:116852572	RAD21	Q433R	Cornelia de Lange syndrome 4	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 169043041.	NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser) GRCh37: Chr8:117859893 GRCh38: Chr8:116847654	RAD21	L581S	Cornelia de Lange syndrome 4, See cases	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166420942.	NM_006265.3(RAD21):c.1471-16T>C GRCh37: Chr8:117863022 GRCh38: Chr8:116850783	RAD21		Cornelia de Lange syndrome 4	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 166007643.	NM_006265.3(RAD21):c.1068C>T (p.Pro356=) GRCh37: Chr8:117866577 GRCh38: Chr8:116854338	RAD21		Cornelia de Lange syndrome 4	Likely benign (Apr 2, 2021)	criteria provided, single submitter
Select item 163027444.	NM_006265.3(RAD21):c.999T>C (p.Asp333=) GRCh37: Chr8:117866646 GRCh38: Chr8:116854407	RAD21		Cornelia de Lange syndrome 4	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 162135945.	NM_006265.3(RAD21):c.468A>G (p.Gln156=) GRCh37: Chr8:117870604 GRCh38: Chr8:116858365	RAD21		Inborn genetic diseases, Cornelia de Lange syndrome 4	Benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158324246.	NM_006265.3(RAD21):c.689-16dup GRCh37: Chr8:117869025-117869026 GRCh38: Chr8:116856786-116856787	RAD21		Cornelia de Lange syndrome 4	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 157626347.	NM_006265.3(RAD21):c.1329C>G (p.Pro443=) GRCh37: Chr8:117864328 GRCh38: Chr8:116852089	RAD21		Cornelia de Lange syndrome 4	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 156132248.	NM_006265.3(RAD21):c.717C>T (p.Gly239=) GRCh37: Chr8:117868982 GRCh38: Chr8:116856743	RAD21		Cornelia de Lange syndrome 4	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 155373549.	NM_006265.3(RAD21):c.228A>T (p.Ala76=) GRCh37: Chr8:117875415 GRCh38: Chr8:116863176	RAD21		Cornelia de Lange syndrome 4	Likely benign (Oct 16, 2021)	criteria provided, single submitter
Select item 148102250.	NM_006265.3(RAD21):c.1446A>T (p.Gln482His) GRCh37: Chr8:117864211 GRCh38: Chr8:116851972	RAD21	Q482H	Cornelia de Lange syndrome 4	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 147916851.	NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe) GRCh37: Chr8:117859777 GRCh38: Chr8:116847538	RAD21	I620F	Cornelia de Lange syndrome 4	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 147477552.	NM_006265.3(RAD21):c.640C>G (p.Gln214Glu) GRCh37: Chr8:117869554 GRCh38: Chr8:116857315	RAD21	Q214E	Cornelia de Lange syndrome 4	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 144416653.	NC_000008.10:g.(?_117574515)_(117878968_?)dup GRCh37: Chr8:117574515-117878968	EIF3H, RAD21, UTP23		Cornelia de Lange syndrome 4	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 144378354.	NC_000008.10:g.(?_117859739)_(117866727_?)dup GRCh37: Chr8:117859739-117866727	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (Jul 31, 2021)	criteria provided, single submitter
Select item 142806255.	NM_006265.3(RAD21):c.1364T>C (p.Val455Ala) GRCh37: Chr8:117864293 GRCh38: Chr8:116852054	RAD21	V455A	not provided, Cornelia de Lange syndrome 4	Uncertain significance (Nov 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139923356.	NM_006265.3(RAD21):c.687A>C (p.Leu229Phe) GRCh37: Chr8:117869507 GRCh38: Chr8:116857268	RAD21	L229F	Cornelia de Lange syndrome 4	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 138895257.	NM_006265.3(RAD21):c.1296GCA[1] (p.Gln433del) GRCh37: Chr8:117864808-117864810 GRCh38: Chr8:116852569-116852571	RAD21	Q433del	Cornelia de Lange syndrome 4	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 135668958.	NM_006265.3(RAD21):c.1863C>G (p.Ile621Met) GRCh37: Chr8:117859772 GRCh38: Chr8:116847533	RAD21	I621M	Cornelia de Lange syndrome 4	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 134180059.	NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) GRCh37: Chr8:117866502 GRCh38: Chr8:116854263	RAD21	W381C	Cornelia de Lange syndrome 4, Inborn genetic diseases	Uncertain significance (Feb 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131901260.	NM_006265.3(RAD21):c.745T>C (p.Ser249Pro) GRCh37: Chr8:117868954 GRCh38: Chr8:116856715	RAD21	S249P	not provided, Cornelia de Lange syndrome 4	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125366061.	NM_006265.3(RAD21):c.274+26GTT[5] GRCh37: Chr8:117875331-117875332 GRCh38: Chr8:116863092-116863093	RAD21		Mungan syndrome, not provided, Cornelia de Lange syndrome 4	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121613862.	NM_006265.3(RAD21):c.1705-12G>A GRCh37: Chr8:117859942 GRCh38: Chr8:116847703	RAD21		not provided, Cornelia de Lange syndrome 4	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120636163.	NM_006265.3(RAD21):c.815-6_815-5del GRCh37: Chr8:117868532-117868533 GRCh38: Chr8:116856293-116856294	RAD21		Mungan syndrome, Cornelia de Lange syndrome 4, not provided, Cornelia de Lange syndrome 4	Benign/Likely benign (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120474664.	NM_006265.3(RAD21):c.815-27dup GRCh37: Chr8:117868531-117868532 GRCh38: Chr8:116856292-116856293	RAD21		Mungan syndrome, Cornelia de Lange syndrome 4, not provided	Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118504965.	NM_006265.3(RAD21):c.943_946del (p.Glu315fs) GRCh37: Chr8:117866699-117866702 GRCh38: Chr8:116854460-116854463	RAD21	E315fs	Cornelia de Lange syndrome 4	Pathogenic (Sep 15, 2021)	criteria provided, single submitter
Select item 118504866.	NM_006265.3(RAD21):c.593dup (p.Ser198fs) GRCh37: Chr8:117869600-117869601 GRCh38: Chr8:116857361-116857362	RAD21	S198fs	Cornelia de Lange syndrome 4	Pathogenic (Jul 30, 2021)	no assertion criteria provided
Select item 118504767.	NM_006265.3(RAD21):c.1621-384_1704+199del GRCh37: Chr8:117860986-117861652 GRCh38: Chr8:116848747-116849413	RAD21		Cornelia de Lange syndrome 4	Pathogenic (Aug 2, 2021)	no assertion criteria provided
Select item 110363368.	NM_006265.3(RAD21):c.849C>T (p.Pro283=) GRCh37: Chr8:117868493 GRCh38: Chr8:116856254	RAD21		Cornelia de Lange syndrome 4, Inborn genetic diseases	Likely benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109242669.	NM_006265.3(RAD21):c.393G>A (p.Gln131=) GRCh37: Chr8:117870679 GRCh38: Chr8:116858440	RAD21		Cornelia de Lange syndrome 4	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 103425970.	NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs) GRCh37: Chr8:117878884 GRCh38: Chr8:116866645	RAD21	K29fs	Cornelia de Lange syndrome 4	Pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 100684071.	NM_006265.3(RAD21):c.482-3del GRCh37: Chr8:117869715 GRCh38: Chr8:116857476	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 99266572.	NM_006265.3(RAD21):c.704del (p.Ser235fs) GRCh37: Chr8:117868995 GRCh38: Chr8:116856756	RAD21	S235fs	Cornelia de Lange syndrome 4	Pathogenic (Jan 11, 2021)	no assertion criteria provided
Select item 98272473.	NM_006265.3(RAD21):c.273A>G (p.Pro91=) GRCh37: Chr8:117875370 GRCh38: Chr8:116863131	RAD21		Cornelia de Lange syndrome 4	Uncertain significance (May 15, 2023)	criteria provided, single submitter
Select item 98143974.	NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter) GRCh37: Chr8:117859792 GRCh38: Chr8:116847553	RAD21	E615*	Cornelia de Lange syndrome 4	Pathogenic (Oct 9, 2020)	no assertion criteria provided
Select item 97330075.	NM_006265.3(RAD21):c.850G>A (p.Val284Ile) GRCh37: Chr8:117868492 GRCh38: Chr8:116856253	RAD21	V284I	Cornelia de Lange syndrome 4	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96130876.	NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe) GRCh37: Chr8:117859924 GRCh38: Chr8:116847685	RAD21	L571F	Cornelia de Lange syndrome 4	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 86483677.	NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs) GRCh37: Chr8:117864885-117864892 GRCh38: Chr8:116852646-116852653	RAD21	K406fs	not provided	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 86483578.	NM_006265.3(RAD21):c.589C>T (p.Gln197Ter) GRCh37: Chr8:117869605 GRCh38: Chr8:116857366	RAD21	Q197*	Cornelia de Lange syndrome 4	Pathogenic (Apr 13, 2020)	no assertion criteria provided
Select item 86483479.	NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs) GRCh37: Chr8:117862929 GRCh38: Chr8:116850690	RAD21	E518fs	Cornelia de Lange syndrome 4	Pathogenic (Apr 13, 2020)	no assertion criteria provided
Select item 84876480.	NM_006265.3(RAD21):c.466C>T (p.Gln156Ter) GRCh37: Chr8:117870606 GRCh38: Chr8:116858367	RAD21	Q156*	Cornelia de Lange syndrome 4	Pathogenic (Apr 18, 2019)	criteria provided, single submitter
Select item 83987381.	NM_006265.3(RAD21):c.1189G>A (p.Val397Ile) GRCh37: Chr8:117864920 GRCh38: Chr8:116852681	RAD21	V397I	Cornelia de Lange syndrome 4	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 83082882.	NC_000008.11:g.(?_116857267)_(116863259_?)del GRCh37: Chr8:117869506-117875498	RAD21		Cornelia de Lange syndrome 4	Pathogenic (Nov 1, 2019)	criteria provided, single submitter
Select item 81692083.	NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter) GRCh37: Chr8:117864225 GRCh38: Chr8:116851986	RAD21	R478*	not provided, Cornelia de Lange syndrome 4	Pathogenic/Likely pathogenic (Sep 27, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80766884.	NM_006265.3(RAD21):c.3G>A (p.Met1Ile) GRCh37: Chr8:117878966 GRCh38: Chr8:116866727	RAD21	M1I	Cornelia de Lange syndrome 4	Pathogenic (Jan 2, 2020)	criteria provided, single submitter
Select item 80766785.	NM_006265.3(RAD21):c.497A>G (p.Asp166Gly) GRCh37: Chr8:117869697 GRCh38: Chr8:116857458	RAD21	D166G	Cornelia de Lange syndrome 4	Likely pathogenic (Dec 6, 2019)	criteria provided, single submitter
Select item 80243486.	NM_006265.3(RAD21):c.144+1G>A GRCh37: Chr8:117878824 GRCh38: Chr8:116866585	RAD21		Cornelia de Lange syndrome 4	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80243387.	NM_006265.3(RAD21):c.815-17_815-5del GRCh37: Chr8:117868532-117868544 GRCh38: Chr8:116856293-116856305	RAD21		Cornelia de Lange syndrome 4	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79127588.	NM_006265.3(RAD21):c.815-10_815-5del GRCh37: Chr8:117868532-117868537 GRCh38: Chr8:116856293-116856298	RAD21		Cornelia de Lange syndrome 4	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 77981589.	NM_006265.3(RAD21):c.1237T>C (p.Leu413=) GRCh37: Chr8:117864872 GRCh38: Chr8:116852633	RAD21		Cornelia de Lange syndrome 4	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 77204990.	NM_006265.3(RAD21):c.159A>G (p.Leu53=) GRCh37: Chr8:117875484 GRCh38: Chr8:116863245	RAD21		Cornelia de Lange syndrome 4	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 73877391.	NM_006265.3(RAD21):c.540C>T (p.Asp180=) GRCh37: Chr8:117869654 GRCh38: Chr8:116857415	RAD21		Cornelia de Lange syndrome 4	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 70357192.	NM_006265.3(RAD21):c.450G>A (p.Gly150=) GRCh37: Chr8:117870622 GRCh38: Chr8:116858383	RAD21		Inborn genetic diseases, Cornelia de Lange syndrome 4	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62434393.	NM_006265.3(RAD21):c.892C>G (p.Pro298Ala) GRCh37: Chr8:117868450 GRCh38: Chr8:116856211	RAD21	P298A	Cornelia de Lange syndrome 4, not provided	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62042694.	NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter) GRCh37: Chr8:117864803 GRCh38: Chr8:116852564	RAD21	Q436*	not provided, Cornelia de Lange syndrome 4	Pathogenic/Likely pathogenic (Apr 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 58977695.	NM_006265.3(RAD21):c.1479G>C (p.Gln493His) GRCh37: Chr8:117862998 GRCh38: Chr8:116850759	RAD21	Q493H	Cornelia de Lange syndrome 4, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 58949496.	NM_006265.3(RAD21):c.1320C>T (p.Ile440=) GRCh37: Chr8:117864789 GRCh38: Chr8:116852550	RAD21		Cornelia de Lange syndrome 4, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 4, 2022)	criteria provided, conflicting interpretations
Select item 58932997.	NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala) GRCh37: Chr8:117859911 GRCh38: Chr8:116847672	RAD21	G575A	Inborn genetic diseases, Cornelia de Lange syndrome 4	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58926598.	NM_006265.3(RAD21):c.1629T>C (p.Asp543=) GRCh37: Chr8:117861260 GRCh38: Chr8:116849021	RAD21		Inborn genetic diseases, Cornelia de Lange syndrome 4	Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58811599.	NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu) GRCh37: Chr8:117864867 GRCh38: Chr8:116852628	RAD21	D414E	Inborn genetic diseases, not provided, Cornelia de Lange syndrome 4	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 588094100.	NM_006265.3(RAD21):c.1503T>G (p.Pro501=) GRCh37: Chr8:117862974 GRCh38: Chr8:116850735	RAD21		Inborn genetic diseases, Cornelia de Lange syndrome 4	Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts

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