ClinVar for MedGen (Select 463627) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000271.	NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val) GRCh37: Chr3:10107562 GRCh38: Chr3:10065878	FANCD2, LOC107303338	L725V, L762V	Fanconi anemia complementation group D2	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 24413462.	NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser) GRCh37: Chr3:10102050 GRCh38: Chr3:10060366	FANCD2, LOC107303338	G540S, G577S	Fanconi anemia complementation group D2	Uncertain significance (Jul 17, 2019)	criteria provided, single submitter
Select item 24413453.	NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn) GRCh37: Chr3:10094150 GRCh38: Chr3:10052466	LOC107303338, FANCD2	S542N	Fanconi anemia complementation group D2	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 18063284.	NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe) GRCh37: Chr3:10107626 GRCh38: Chr3:10065942	FANCD2, LOC107303338	C746F, C783F	Fanconi anemia complementation group D2	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 17085055.	NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys) GRCh37: Chr3:10132005 GRCh38: Chr3:10090321	FANCD2, FANCD2OS	M1201K, M1238K	Fanconi anemia complementation group D2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 17085046.	NM_001018115.3(FANCD2):c.2606-9A>G GRCh37: Chr3:10114928 GRCh38: Chr3:10073244	FANCD2, LOC107303338		Fanconi anemia complementation group D2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 17056637.	NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter) GRCh37: Chr3:10128819 GRCh38: Chr3:10087135	FANCD2OS, FANCD2	Q1076, Q1113	Fanconi anemia complementation group D2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16925388.	NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) GRCh37: Chr3:10142887 GRCh38: Chr3:10101203	FANCD2, FANCD2OS	E1396K, E1433K	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16920569.	NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) GRCh37: Chr3:10081443 GRCh38: Chr3:10039759	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169205310.	NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) GRCh37: Chr3:10138134 GRCh38: Chr3:10096450	FANCD2, FANCD2OS	N1351S, N1375S, N1388S	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169204311.	NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) GRCh37: Chr3:10107165 GRCh38: Chr3:10065481	LOC107303338, FANCD2		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169203412.	NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) GRCh37: Chr3:10094126 GRCh38: Chr3:10052442	LOC107303338, FANCD2	Y534F	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168581113.	NM_001018115.3(FANCD2):c.3777+1G>T GRCh37: Chr3:10132070 GRCh38: Chr3:10090386	FANCD2, FANCD2OS		Fanconi anemia complementation group D2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168581014.	NM_001018115.3(FANCD2):c.1279-1G>A GRCh37: Chr3:10089600 GRCh38: Chr3:10047916	FANCD2, LOC107303338		Fanconi anemia complementation group D2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167903515.	NM_001018115.3(FANCD2):c.377+17T>C GRCh37: Chr3:10076499 GRCh38: Chr3:10034815	FANCD2, LOC107303338		Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167903216.	NM_001018115.3(FANCD2):c.206-20C>A GRCh37: Chr3:10076133 GRCh38: Chr3:10034449	FANCD2, LOC107303338		Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166981917.	NM_001018115.3(FANCD2):c.3963+11A>G GRCh37: Chr3:10136058 GRCh38: Chr3:10094374	FANCD2, FANCD2OS		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 164918618.	NM_001018115.3(FANCD2):c.889-9T>A GRCh37: Chr3:10084725 GRCh38: Chr3:10043041	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163402919.	NM_001018115.3(FANCD2):c.571-19A>T GRCh37: Chr3:10081386 GRCh38: Chr3:10039702	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161759920.	NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) GRCh37: Chr3:10078001 GRCh38: Chr3:10036317	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160153421.	NM_001018115.3(FANCD2):c.3560+20C>T GRCh37: Chr3:10130246 GRCh38: Chr3:10088562	FANCD2, FANCD2OS		Fanconi anemia, Fanconi anemia complementation group D2	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159540122.	NM_001018115.3(FANCD2):c.3466+9C>G GRCh37: Chr3:10128957 GRCh38: Chr3:10087273	FANCD2, FANCD2OS		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159104023.	NM_001018115.3(FANCD2):c.2269+12A>G GRCh37: Chr3:10107190 GRCh38: Chr3:10065506	LOC107303338, FANCD2		Fanconi anemia, Fanconi anemia complementation group D2	Benign/Likely benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158806924.	NM_001018115.3(FANCD2):c.695+19A>G GRCh37: Chr3:10081548 GRCh38: Chr3:10039864	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157900325.	NM_001018115.3(FANCD2):c.696-18T>G GRCh37: Chr3:10083289 GRCh38: Chr3:10041605	LOC107303338, FANCD2		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156482226.	NM_001018115.3(FANCD2):c.439-18C>A GRCh37: Chr3:10077953 GRCh38: Chr3:10036269	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154950327.	NM_001018115.3(FANCD2):c.1766+16C>T GRCh37: Chr3:10102103 GRCh38: Chr3:10060419	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154298328.	NM_001018115.3(FANCD2):c.2022-4G>A GRCh37: Chr3:10106409 GRCh38: Chr3:10064725	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153398729.	NM_001018115.3(FANCD2):c.2716-15G>A GRCh37: Chr3:10116199 GRCh38: Chr3:10074515	LOC107303338, FANCD2		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152379430.	NM_001018115.3(FANCD2):c.64+2T>G GRCh37: Chr3:10070407 GRCh38: Chr3:10028723	FANCD2		Fanconi anemia, Fanconi anemia complementation group D2	Likely pathogenic (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152375831.	NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) GRCh37: Chr3:10108903 GRCh38: Chr3:10067219	FANCD2, LOC107303338	A799D, A762D	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151358132.	NM_001018115.3(FANCD2):c.3106-13T>G GRCh37: Chr3:10123017 GRCh38: Chr3:10081333	FANCD2, FANCD2OS		not provided, Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Sep 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149758233.	NM_001018115.3(FANCD2):c.2859+13C>G GRCh37: Chr3:10116370 GRCh38: Chr3:10074686	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Oct 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149377534.	NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) GRCh37: Chr3:10106108 GRCh38: Chr3:10064424	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148928935.	NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) GRCh37: Chr3:10123133 GRCh38: Chr3:10081449	FANCD2, FANCD2OS	H1070R, H1033R	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148706236.	NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) GRCh37: Chr3:10085193 GRCh38: Chr3:10043509	FANCD2, LOC107303338	G339S	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148234937.	NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) GRCh37: Chr3:10102039 GRCh38: Chr3:10060355	FANCD2, LOC107303338	I536T, I573T	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145031738.	NM_001018115.3(FANCD2):c.2715+20C>G GRCh37: Chr3:10115066 GRCh38: Chr3:10073382	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144946539.	NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) GRCh37: Chr3:10105514-10105515 GRCh38: Chr3:10063830-10063831	FANCD2, LOC107303338	Q586, Q623	Fanconi anemia, Fanconi anemia complementation group D2	Pathogenic/Likely pathogenic (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144941940.	NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe) GRCh37: Chr3:10130558 GRCh38: Chr3:10088874	FANCD2, FANCD2OS	I1203F, I1166F	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144920941.	NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val) GRCh37: Chr3:10128903 GRCh38: Chr3:10087219	FANCD2, FANCD2OS	I1141V, I1104V	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144239742.	NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly) GRCh37: Chr3:10128888 GRCh38: Chr3:10087204	FANCD2, FANCD2OS	R1099G, R1136G	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144230843.	NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) GRCh37: Chr3:10134996 GRCh38: Chr3:10093312	FANCD2OS, FANCD2	V1293I, V1256I	Inborn genetic diseases, Fanconi anemia complementation group D2, Fanconi anemia	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 143860844.	NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) GRCh37: Chr3:10140407 GRCh38: Chr3:10098723	FANCD2, FANCD2OS	E1360K, E1384K, E1397K	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143676045.	NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) GRCh37: Chr3:10084267 GRCh38: Chr3:10042583	FANCD2, LOC107303338	L270V	Inborn genetic diseases, Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143431446.	NM_001018115.3(FANCD2):c.1766+3A>G GRCh37: Chr3:10102090 GRCh38: Chr3:10060406	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141915447.	NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) GRCh37: Chr3:10088364 GRCh38: Chr3:10046680	FANCD2, LOC107303338	I412T	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141607948.	NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) GRCh37: Chr3:10076203 GRCh38: Chr3:10034519	FANCD2, LOC107303338	H86Y	not specified, Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140940549.	NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu) GRCh37: Chr3:10132062 GRCh38: Chr3:10090378	FANCD2, FANCD2OS	S1257L, S1220L	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140803850.	NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) GRCh37: Chr3:10116239 GRCh38: Chr3:10074555	FANCD2, LOC107303338	T877I, T914I	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140031351.	NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) GRCh37: Chr3:10127497 GRCh38: Chr3:10085813	FANCD2, FANCD2OS	S1076G, S1039G	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138010652.	NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) GRCh37: Chr3:10085205 GRCh38: Chr3:10043521	FANCD2, LOC107303338	I343V	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137141353.	NM_001018115.3(FANCD2):c.1657-5T>G GRCh37: Chr3:10101973 GRCh38: Chr3:10060289	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136662554.	NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser) GRCh37: Chr3:10130193 GRCh38: Chr3:10088509	FANCD2, FANCD2OS	N1139S, N1176S	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135453355.	NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu) GRCh37: Chr3:10122791 GRCh38: Chr3:10081107	FANCD2	G995E, G958E	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133803756.	NM_001018115.3(FANCD2):c.531C>G (p.Val177=) GRCh37: Chr3:10081002 GRCh38: Chr3:10039318	FANCD2, LOC107303338		not specified, Fanconi anemia complementation group D2	Uncertain significance (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133797457.	NM_001018115.3(FANCD2):c.888+9T>C GRCh37: Chr3:10084356 GRCh38: Chr3:10042672	FANCD2, LOC107303338		not specified, Fanconi anemia complementation group D2	Likely benign (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132708458.	NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) GRCh37: Chr3:10107088 GRCh38: Chr3:10065404	FANCD2, LOC107303338	P690S, P727S	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132707259.	NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser) GRCh37: Chr3:10134984 GRCh38: Chr3:10093300	FANCD2, FANCD2OS	P1252S, P1289S	not specified, Fanconi anemia complementation group D2	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132706860.	NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) GRCh37: Chr3:10123127 GRCh38: Chr3:10081443	FANCD2, FANCD2OS	I1031T, I1068T	Fanconi anemia complementation group D2	Uncertain significance (Jul 24, 2021)	criteria provided, single submitter
Select item 132438161.	NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) GRCh37: Chr3:10133904 GRCh38: Chr3:10092220	FANCD2, FANCD2OS	R1236, R1273	Fanconi anemia, Fanconi anemia complementation group D2	Pathogenic/Likely pathogenic (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132438062.	NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) GRCh37: Chr3:10128858 GRCh38: Chr3:10087174	FANCD2, FANCD2OS	S1090fs, S1127fs	Fanconi anemia complementation group D2	Likely pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 132437863.	NM_001018115.3(FANCD2):c.92del (p.Lys31fs) GRCh37: Chr3:10074539 GRCh38: Chr3:10032855	FANCD2, LOC107303338	K31fs	Fanconi anemia complementation group D2	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 132437764.	NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) GRCh37: Chr3:10080976 GRCh38: Chr3:10039292	LOC107303338, FANCD2	E169*	Fanconi anemia complementation group D2	Likely pathogenic (Feb 2, 2021)	criteria provided, single submitter
Select item 132288565.	NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) GRCh37: Chr3:10107658 GRCh38: Chr3:10065974	LOC107303338, FANCD2	R757, R794	Fanconi anemia, Fanconi anemia complementation group D2	Pathogenic/Likely pathogenic (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132288366.	NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter) GRCh37: Chr3:10130166 GRCh38: Chr3:10088482	FANCD2, FANCD2OS	W1130, W1167	Fanconi anemia complementation group D2	Pathogenic (Mar 25, 2019)	criteria provided, single submitter
Select item 132288267.	NM_001018115.3(FANCD2):c.2977-2A>G GRCh37: Chr3:10122782 GRCh38: Chr3:10081098	FANCD2		Fanconi anemia complementation group D2	Pathogenic (Jun 10, 2019)	criteria provided, single submitter
Select item 132288068.	NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) GRCh37: Chr3:10127570-10127571 GRCh38: Chr3:10085886-10085887	FANCD2OS, FANCD2	Q1063fs, Q1100fs	Fanconi anemia, Fanconi anemia complementation group D2	Pathogenic/Likely pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132287969.	NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) GRCh37: Chr3:10074547-10074550 GRCh38: Chr3:10032863-10032866	LOC107303338, FANCD2	K33fs	Fanconi anemia complementation group D2	Pathogenic (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132287870.	NM_001018115.3(FANCD2):c.2160del (p.Gly721fs) GRCh37: Chr3:10106551 GRCh38: Chr3:10064867	LOC107303338, FANCD2	G684fs, G721fs	Fanconi anemia complementation group D2	Pathogenic (May 15, 2019)	criteria provided, single submitter
Select item 132287771.	NM_001018115.3(FANCD2):c.230del (p.Lys77fs) GRCh37: Chr3:10076174 GRCh38: Chr3:10034490	FANCD2, LOC107303338	K77fs	Fanconi anemia complementation group D2	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 131940672.	NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) GRCh37: Chr3:10091124 GRCh38: Chr3:10049440	FANCD2, LOC107303338	D494Y	not provided, Fanconi anemia complementation group D2	Uncertain significance (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122454373.	NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) GRCh37: Chr3:10088351 GRCh38: Chr3:10046667	FANCD2, LOC107303338	R408*	Fanconi anemia complementation group D2, Fanconi anemia	Conflicting interpretations of pathogenicity (Dec 8, 2021)	criteria provided, conflicting interpretations
Select item 122452474.	NM_001018115.3(FANCD2):c.2976+5G>A GRCh37: Chr3:10119886 GRCh38: Chr3:10078202	FANCD2, LOC107303338		not specified, Fanconi anemia, Fanconi anemia complementation group D2	Conflicting interpretations of pathogenicity (Jun 8, 2021)	criteria provided, conflicting interpretations
Select item 117914875.	NM_001018115.3(FANCD2):c.1279-2A>G GRCh37: Chr3:10089599 GRCh38: Chr3:10047915	FANCD2, LOC107303338		Fanconi anemia complementation group D2	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117913876.	NM_001018115.3(FANCD2):c.2605+2dup GRCh37: Chr3:10114666-10114667 GRCh38: Chr3:10072982-10072983	LOC107303338, FANCD2		Fanconi anemia, Fanconi anemia complementation group D2	Conflicting interpretations of pathogenicity (Jun 14, 2022)	criteria provided, conflicting interpretations
Select item 117904377.	NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) GRCh37: Chr3:10076406-10076407 GRCh38: Chr3:10034722-10034723	FANCD2, LOC107303338	E101fs	Fanconi anemia complementation group D2	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 111834078.	NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) GRCh37: Chr3:10123050 GRCh38: Chr3:10081366	FANCD2OS, FANCD2		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111439879.	NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) GRCh37: Chr3:10140424 GRCh38: Chr3:10098740	FANCD2, FANCD2OS		Fanconi anemia complementation group D2, Fanconi anemia	Benign/Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110264380.	NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) GRCh37: Chr3:10094139 GRCh38: Chr3:10052455	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109432881.	NM_001018115.3(FANCD2):c.784-9A>G GRCh37: Chr3:10084234 GRCh38: Chr3:10042550	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109365982.	NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) GRCh37: Chr3:10116252 GRCh38: Chr3:10074568	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Benign/Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109300183.	NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) GRCh37: Chr3:10116249 GRCh38: Chr3:10074565	FANCD2, LOC107303338		Fanconi anemia complementation group D2, Fanconi anemia	Likely benign (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108903184.	NM_001018115.3(FANCD2):c.1414-4A>G GRCh37: Chr3:10091054 GRCh38: Chr3:10049370	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107592585.	NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) GRCh37: Chr3:10116343 GRCh38: Chr3:10074659	FANCD2, LOC107303338	E912, E949	Fanconi anemia, Fanconi anemia complementation group D2	Pathogenic/Likely pathogenic (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106889186.	NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) GRCh37: Chr3:10083317-10083318 GRCh38: Chr3:10041633-10041634	FANCD2, LOC107303338	I236fs	Fanconi anemia, Fanconi anemia complementation group D2	Pathogenic/Likely pathogenic (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106729987.	NM_001018115.3(FANCD2):c.2494+2T>C GRCh37: Chr3:10109003 GRCh38: Chr3:10067319	FANCD2, LOC107303338		Fanconi anemia, Fanconi anemia complementation group D2	Likely pathogenic (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105928888.	NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) GRCh37: Chr3:10074573 GRCh38: Chr3:10032889	FANCD2, LOC107303338	V41A	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105841289.	NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) GRCh37: Chr3:10107623 GRCh38: Chr3:10065939	FANCD2, LOC107303338	M745T, M782T	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105204190.	NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) GRCh37: Chr3:10074554 GRCh38: Chr3:10032870	FANCD2, LOC107303338	S35P	Fanconi anemia	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 104957191.	NM_001018115.3(FANCD2):c.4281+69G>A GRCh37: Chr3:10140568 GRCh38: Chr3:10098884	FANCD2, FANCD2OS	W1437, W1450	not specified, Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104703392.	NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) GRCh37: Chr3:10081439 GRCh38: Chr3:10039755	FANCD2, LOC107303338	I202T	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103830293.	NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) GRCh37: Chr3:10105543 GRCh38: Chr3:10063859	FANCD2, LOC107303338	Y632C, Y595C	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103418494.	NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) GRCh37: Chr3:10116275 GRCh38: Chr3:10074591	FANCD2, LOC107303338	R926L, R889L	Fanconi anemia complementation group D2	Uncertain significance (Aug 15, 2018)	criteria provided, single submitter
Select item 103418395.	NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) GRCh37: Chr3:10107112 GRCh38: Chr3:10065428	LOC107303338, FANCD2	R735W, R698W	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102631096.	NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) GRCh37: Chr3:10107629 GRCh38: Chr3:10065945	FANCD2, LOC107303338	S747F, S784F	Ovarian cancer, Fanconi anemia, Fanconi anemia complementation group D2	Conflicting interpretations of pathogenicity (Jun 2, 2022)	criteria provided, conflicting interpretations
Select item 102142897.	NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His) GRCh37: Chr3:10135980 GRCh38: Chr3:10094296	FANCD2, FANCD2OS	R1262H, R1286H, R1299H	Inborn genetic diseases, Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102072098.	NM_001018115.3(FANCD2):c.3224+8T>A GRCh37: Chr3:10123156 GRCh38: Chr3:10081472	FANCD2, FANCD2OS		Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101943299.	NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) GRCh37: Chr3:10106421 GRCh38: Chr3:10064737	FANCD2, LOC107303338	P640L, P677L	Fanconi anemia complementation group D2, Fanconi anemia	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1008533100.	NM_001018115.3(FANCD2):c.4281+37G>A GRCh37: Chr3:10140536 GRCh38: Chr3:10098852	FANCD2, FANCD2OS	G1427S, G1440S	Fanconi anemia, Fanconi anemia complementation group D2	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts

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