ClinVar for MedGen (Select 463628) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24413471.	NM_021922.3(FANCE):c.291C>A (p.Asn97Lys) GRCh37: Chr6:35423566 GRCh38: Chr6:35455789	FANCE	N97K	Fanconi anemia complementation group E	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 24266902.	NC_000006.11:g.(?_35423579)_(35424285_?)del GRCh37: Chr6:35423579-35424285	FANCE		Fanconi anemia complementation group E	Likely pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 24266893.	NC_000006.11:g.(?_35428309)_(35434122_?)dup GRCh37: Chr6:35428309-35434122	FANCE		Fanconi anemia complementation group E	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 24266884.	NC_000006.11:g.(?_35420323)_(35424150_?)dup GRCh37: Chr6:35420323-35424150	FANCE		Fanconi anemia complementation group E	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 24217095.	NM_021922.3(FANCE):c.969+7C>T GRCh37: Chr6:35425768 GRCh38: Chr6:35457991	FANCE		Fanconi anemia complementation group E	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 24199116.	NM_021922.3(FANCE):c.426G>A (p.Arg142=) GRCh37: Chr6:35423701 GRCh38: Chr6:35455924	FANCE		Fanconi anemia complementation group E	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 24186467.	NM_021922.3(FANCE):c.1254G>A (p.Glu418=) GRCh37: Chr6:35427475 GRCh38: Chr6:35459698	FANCE		Fanconi anemia complementation group E	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 24154158.	NM_021922.3(FANCE):c.927C>T (p.Pro309=) GRCh37: Chr6:35425719 GRCh38: Chr6:35457942	FANCE		Fanconi anemia complementation group E	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 22021989.	NM_021922.3(FANCE):c.371A>G (p.Asp124Gly) GRCh37: Chr6:35423646 GRCh38: Chr6:35455869	FANCE	D124G	Fanconi anemia complementation group E	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 219424710.	NM_021922.3(FANCE):c.447C>G (p.Ser149=) GRCh37: Chr6:35423722 GRCh38: Chr6:35455945	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 219180011.	NM_021922.3(FANCE):c.751A>G (p.Ile251Val) GRCh37: Chr6:35424026 GRCh38: Chr6:35456249	FANCE	I251V	Fanconi anemia complementation group E	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 218951412.	NM_021922.3(FANCE):c.248+14C>A GRCh37: Chr6:35420584 GRCh38: Chr6:35452807	FANCE		Fanconi anemia complementation group E	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 218871613.	NM_021922.3(FANCE):c.139C>T (p.Leu47Phe) GRCh37: Chr6:35420461 GRCh38: Chr6:35452684	FANCE	L47F	Fanconi anemia complementation group E	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 218295214.	NM_021922.3(FANCE):c.318G>A (p.Arg106=) GRCh37: Chr6:35423593 GRCh38: Chr6:35455816	FANCE		Fanconi anemia complementation group E	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 218057715.	NM_021922.3(FANCE):c.105G>A (p.Ala35=) GRCh37: Chr6:35420427 GRCh38: Chr6:35452650	FANCE		Fanconi anemia complementation group E	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 217535816.	NM_021922.3(FANCE):c.1509+13A>G GRCh37: Chr6:35430704 GRCh38: Chr6:35462927	FANCE		Fanconi anemia complementation group E	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 217365817.	NM_021922.3(FANCE):c.74C>T (p.Pro25Leu) GRCh37: Chr6:35420396 GRCh38: Chr6:35452619	FANCE	P25L	Fanconi anemia complementation group E	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 216941118.	NM_021922.3(FANCE):c.413A>G (p.Glu138Gly) GRCh37: Chr6:35423688 GRCh38: Chr6:35455911	FANCE	E138G	Fanconi anemia complementation group E	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 216728919.	NM_021922.3(FANCE):c.257T>C (p.Leu86Pro) GRCh37: Chr6:35423532 GRCh38: Chr6:35455755	FANCE	L86P	Fanconi anemia complementation group E	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 216577220.	NM_021922.3(FANCE):c.1383+12G>T GRCh37: Chr6:35428407 GRCh38: Chr6:35460630	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216440121.	NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro) GRCh37: Chr6:35420337-35420338 GRCh38: Chr6:35452560-35452561	FANCE		Fanconi anemia complementation group E	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 216041422.	NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser) GRCh37: Chr6:35426180 GRCh38: Chr6:35458403	FANCE	N359S	Fanconi anemia complementation group E	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 215974123.	NM_021922.3(FANCE):c.1258C>T (p.Leu420=) GRCh37: Chr6:35427479 GRCh38: Chr6:35459702	FANCE		Fanconi anemia complementation group E	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 215812324.	NM_021922.3(FANCE):c.54C>T (p.Pro18=) GRCh37: Chr6:35420376 GRCh38: Chr6:35452599	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 215677025.	NM_021922.3(FANCE):c.363C>G (p.Ala121=) GRCh37: Chr6:35423638 GRCh38: Chr6:35455861	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 215627126.	NM_021922.3(FANCE):c.1528C>G (p.Leu510Val) GRCh37: Chr6:35434039 GRCh38: Chr6:35466262	FANCE	L510V	Fanconi anemia complementation group E	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 215297027.	NM_021922.3(FANCE):c.1260G>T (p.Leu420=) GRCh37: Chr6:35427481 GRCh38: Chr6:35459704	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214730828.	NM_021922.3(FANCE):c.928C>G (p.Pro310Ala) GRCh37: Chr6:35425720 GRCh38: Chr6:35457943	FANCE	P310A	Fanconi anemia complementation group E	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 214547129.	NM_021922.3(FANCE):c.221T>C (p.Val74Ala) GRCh37: Chr6:35420543 GRCh38: Chr6:35452766	FANCE	V74A	Fanconi anemia complementation group E	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 214498030.	NM_021922.3(FANCE):c.703G>A (p.Glu235Lys) GRCh37: Chr6:35423978 GRCh38: Chr6:35456201	FANCE	E235K	Fanconi anemia complementation group E	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214152331.	NM_021922.3(FANCE):c.1383+17G>A GRCh37: Chr6:35428412 GRCh38: Chr6:35460635	FANCE		Fanconi anemia complementation group E	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 212227332.	NM_021922.3(FANCE):c.373C>T (p.Leu125=) GRCh37: Chr6:35423648 GRCh38: Chr6:35455871	FANCE		Fanconi anemia complementation group E	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 212023833.	NM_021922.3(FANCE):c.396G>A (p.Trp132Ter) GRCh37: Chr6:35423671 GRCh38: Chr6:35455894	FANCE	W132*	Fanconi anemia complementation group E	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 209947034.	NM_021922.3(FANCE):c.930A>G (p.Pro310=) GRCh37: Chr6:35425722 GRCh38: Chr6:35457945	FANCE		Fanconi anemia complementation group E	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 209043035.	NM_021922.3(FANCE):c.256C>G (p.Leu86Val) GRCh37: Chr6:35423531 GRCh38: Chr6:35455754	FANCE	L86V	Fanconi anemia complementation group E	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 208379736.	NM_021922.3(FANCE):c.856-11C>T GRCh37: Chr6:35425322 GRCh38: Chr6:35457545	FANCE		Fanconi anemia complementation group E	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 208354037.	NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser) GRCh37: Chr6:35426122 GRCh38: Chr6:35458345	FANCE	G340S	Fanconi anemia complementation group E	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 208126338.	NM_021922.3(FANCE):c.720A>G (p.Glu240=) GRCh37: Chr6:35423995 GRCh38: Chr6:35456218	FANCE		Fanconi anemia complementation group E	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 207669239.	NM_021922.3(FANCE):c.855+18C>G GRCh37: Chr6:35424148 GRCh38: Chr6:35456371	FANCE		Fanconi anemia complementation group E	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 207264040.	NM_021922.3(FANCE):c.698G>A (p.Arg233Lys) GRCh37: Chr6:35423973 GRCh38: Chr6:35456196	FANCE	R233K	Fanconi anemia complementation group E	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 206790241.	NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp) GRCh37: Chr6:35426153 GRCh38: Chr6:35458376	FANCE	A350D	Fanconi anemia complementation group E	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206785242.	NM_021922.3(FANCE):c.1357G>T (p.Val453Leu) GRCh37: Chr6:35428369 GRCh38: Chr6:35460592	FANCE	V453L	Fanconi anemia complementation group E	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 206624843.	NM_021922.3(FANCE):c.970-12C>T GRCh37: Chr6:35426062 GRCh38: Chr6:35458285	FANCE		Fanconi anemia complementation group E	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 205936044.	NM_021922.3(FANCE):c.663G>T (p.Arg221=) GRCh37: Chr6:35423938 GRCh38: Chr6:35456161	FANCE		Fanconi anemia complementation group E	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 205819245.	NM_021922.3(FANCE):c.992T>C (p.Leu331Pro) GRCh37: Chr6:35426096 GRCh38: Chr6:35458319	FANCE	L331P	Fanconi anemia complementation group E	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 205122646.	NM_021922.3(FANCE):c.969+11A>T GRCh37: Chr6:35425772 GRCh38: Chr6:35457995	FANCE		Fanconi anemia complementation group E	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 204886747.	NM_021922.3(FANCE):c.134G>T (p.Gly45Val) GRCh37: Chr6:35420456 GRCh38: Chr6:35452679	FANCE	G45V	Fanconi anemia complementation group E	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 204302348.	NM_021922.3(FANCE):c.22C>T (p.Leu8Phe) GRCh37: Chr6:35420344 GRCh38: Chr6:35452567	FANCE	L8F	Fanconi anemia complementation group E	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 204186149.	NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter) GRCh37: Chr6:35434105 GRCh38: Chr6:35466328	FANCE	K532*	Fanconi anemia complementation group E	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 204018350.	NM_021922.3(FANCE):c.1114-3T>C GRCh37: Chr6:35427105 GRCh38: Chr6:35459328	FANCE		Fanconi anemia complementation group E	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 203888251.	NM_021922.3(FANCE):c.5C>T (p.Ala2Val) GRCh37: Chr6:35420327 GRCh38: Chr6:35452550	FANCE	A2V	Fanconi anemia complementation group E	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 203886952.	NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly) GRCh37: Chr6:35427189 GRCh38: Chr6:35459412	FANCE	C399G	not provided, Fanconi anemia complementation group E	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203851053.	NM_021922.3(FANCE):c.702C>T (p.Pro234=) GRCh37: Chr6:35423977 GRCh38: Chr6:35456200	FANCE		Fanconi anemia complementation group E	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 203791054.	NM_021922.3(FANCE):c.1428C>T (p.Leu476=) GRCh37: Chr6:35430610 GRCh38: Chr6:35462833	FANCE		Fanconi anemia complementation group E	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 203598655.	NM_021922.3(FANCE):c.1317-9G>A GRCh37: Chr6:35428320 GRCh38: Chr6:35460543	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 203008356.	NM_021922.3(FANCE):c.1518G>A (p.Glu506=) GRCh37: Chr6:35434029 GRCh38: Chr6:35466252	FANCE	R442K	Fanconi anemia complementation group E	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 202720957.	NM_021922.3(FANCE):c.832T>C (p.Leu278=) GRCh37: Chr6:35424107 GRCh38: Chr6:35456330	FANCE		Fanconi anemia complementation group E	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 201306858.	NM_021922.3(FANCE):c.539C>G (p.Ser180Cys) GRCh37: Chr6:35423814 GRCh38: Chr6:35456037	FANCE	S180C	Fanconi anemia complementation group E	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 200495059.	NM_021922.3(FANCE):c.541C>T (p.Pro181Ser) GRCh37: Chr6:35423816 GRCh38: Chr6:35456039	FANCE	P181S	Fanconi anemia complementation group E	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 199950660.	NM_021922.3(FANCE):c.726G>A (p.Leu242=) GRCh37: Chr6:35424001 GRCh38: Chr6:35456224	FANCE		Fanconi anemia complementation group E	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 199100861.	NM_021922.3(FANCE):c.1114-17del GRCh37: Chr6:35427090 GRCh38: Chr6:35459313	FANCE		Fanconi anemia complementation group E	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 198957462.	NM_021922.3(FANCE):c.1510-15T>C GRCh37: Chr6:35434006 GRCh38: Chr6:35466229	FANCE		Fanconi anemia complementation group E	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 198697363.	NM_021922.3(FANCE):c.1131C>A (p.Ser377=) GRCh37: Chr6:35427125 GRCh38: Chr6:35459348	FANCE		Fanconi anemia complementation group E	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 198608064.	NM_021922.3(FANCE):c.1390A>G (p.Met464Val) GRCh37: Chr6:35430572 GRCh38: Chr6:35462795	FANCE	M464V	Fanconi anemia complementation group E	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 198533365.	NM_021922.3(FANCE):c.248+11G>C GRCh37: Chr6:35420581 GRCh38: Chr6:35452804	FANCE		Fanconi anemia complementation group E	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 198499666.	NM_021922.3(FANCE):c.1476C>T (p.Leu492=) GRCh37: Chr6:35430658 GRCh38: Chr6:35462881	FANCE		Fanconi anemia complementation group E	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 198438067.	NM_021922.3(FANCE):c.1598A>T (p.His533Leu) GRCh37: Chr6:35434109 GRCh38: Chr6:35466332	FANCE	H533L	Fanconi anemia complementation group E	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 198241468.	NM_021922.3(FANCE):c.325C>T (p.Leu109=) GRCh37: Chr6:35423600 GRCh38: Chr6:35455823	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 198137369.	NM_021922.3(FANCE):c.618A>G (p.Glu206=) GRCh37: Chr6:35423893 GRCh38: Chr6:35456116	FANCE		Fanconi anemia complementation group E	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 198004970.	NM_021922.3(FANCE):c.619G>A (p.Glu207Lys) GRCh37: Chr6:35423894 GRCh38: Chr6:35456117	FANCE	E207K	Fanconi anemia complementation group E	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 197884171.	NM_021922.3(FANCE):c.789G>C (p.Glu263Asp) GRCh37: Chr6:35424064 GRCh38: Chr6:35456287	FANCE	E263D	Fanconi anemia complementation group E	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 197828472.	NM_021922.3(FANCE):c.985G>A (p.Ala329Thr) GRCh37: Chr6:35426089 GRCh38: Chr6:35458312	FANCE	A329T	Fanconi anemia complementation group E	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 196846373.	NM_021922.3(FANCE):c.878A>G (p.Gln293Arg) GRCh37: Chr6:35425355 GRCh38: Chr6:35457578	FANCE	Q293R	Fanconi anemia complementation group E	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 196833474.	NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu) GRCh37: Chr6:35428365 GRCh38: Chr6:35460588	FANCE	F451L	Fanconi anemia complementation group E	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 196445175.	NM_021922.3(FANCE):c.379C>G (p.Pro127Ala) GRCh37: Chr6:35423654 GRCh38: Chr6:35455877	FANCE	P127A	Fanconi anemia complementation group E	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 196065576.	NM_021922.3(FANCE):c.25C>T (p.Pro9Ser) GRCh37: Chr6:35420347 GRCh38: Chr6:35452570	FANCE	P9S	Fanconi anemia complementation group E	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 194986777.	NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr) GRCh37: Chr6:35427518 GRCh38: Chr6:35459741	FANCE	A433T	Fanconi anemia complementation group E	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 194446278.	NM_021922.3(FANCE):c.1488G>A (p.Val496=) GRCh37: Chr6:35430670 GRCh38: Chr6:35462893	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 194285479.	NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly) GRCh37: Chr6:35427135 GRCh38: Chr6:35459358	FANCE	R381G	Fanconi anemia complementation group E	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 192090980.	NM_021922.3(FANCE):c.970-8G>A GRCh37: Chr6:35426066 GRCh38: Chr6:35458289	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 191884481.	NM_021922.3(FANCE):c.756G>A (p.Lys252=) GRCh37: Chr6:35424031 GRCh38: Chr6:35456254	FANCE		Fanconi anemia complementation group E	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 191202482.	NM_021922.3(FANCE):c.249G>T (p.Leu83=) GRCh37: Chr6:35423524 GRCh38: Chr6:35455747	FANCE		Fanconi anemia complementation group E	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 190746883.	NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg) GRCh37: Chr6:35428331 GRCh38: Chr6:35460554	FANCE	Q440R	Fanconi anemia complementation group E	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 190649884.	NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala) GRCh37: Chr6:35434030 GRCh38: Chr6:35466253	FANCE	T507A	Fanconi anemia complementation group E	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 190568885.	NM_021922.3(FANCE):c.1068C>T (p.Ser356=) GRCh37: Chr6:35426172 GRCh38: Chr6:35458395	FANCE		Fanconi anemia complementation group E	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 190539586.	NM_021922.3(FANCE):c.797C>T (p.Ser266Leu) GRCh37: Chr6:35424072 GRCh38: Chr6:35456295	FANCE	S266L	Fanconi anemia complementation group E	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 190497187.	NM_021922.3(FANCE):c.1051C>G (p.Leu351Val) GRCh37: Chr6:35426155 GRCh38: Chr6:35458378	FANCE	L351V	Fanconi anemia complementation group E	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 190393788.	NM_021922.3(FANCE):c.248+13C>T GRCh37: Chr6:35420583 GRCh38: Chr6:35452806	FANCE		Fanconi anemia complementation group E	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 190073389.	NM_021922.3(FANCE):c.157C>T (p.Arg53Cys) GRCh37: Chr6:35420479 GRCh38: Chr6:35452702	FANCE	R53C	Fanconi anemia complementation group E	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 172360390.	NM_021922.3(FANCE):c.36G>T (p.Glu12Asp) GRCh37: Chr6:35420358 GRCh38: Chr6:35452581	FANCE	E12D	Fanconi anemia complementation group E, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172228491.	NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys) GRCh37: Chr6:35434042 GRCh38: Chr6:35466265	FANCE	G511C, W446C	Fanconi anemia complementation group E	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 172043092.	NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp) GRCh37: Chr6:35427475 GRCh38: Chr6:35459698	FANCE	E418D	Fanconi anemia complementation group E	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 171443293.	NM_021922.3(FANCE):c.983G>T (p.Cys328Phe) GRCh37: Chr6:35426087 GRCh38: Chr6:35458310	FANCE	C328F	Fanconi anemia complementation group E	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 169192094.	NM_021922.3(FANCE):c.693G>A (p.Lys231=) GRCh37: Chr6:35423968 GRCh38: Chr6:35456191	FANCE		Fanconi anemia complementation group E, Fanconi anemia	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169191995.	NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) GRCh37: Chr6:35423931 GRCh38: Chr6:35456154	FANCE	R219K	Fanconi anemia, Fanconi anemia complementation group E, Inborn genetic diseases	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167378196.	NM_021922.3(FANCE):c.1512C>A (p.Ile504=) GRCh37: Chr6:35434023 GRCh38: Chr6:35466246	FANCE		Fanconi anemia complementation group E	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 167093497.	NM_021922.3(FANCE):c.1237+8T>A GRCh37: Chr6:35427239 GRCh38: Chr6:35459462	FANCE		Fanconi anemia complementation group E	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 166969598.	NM_021922.3(FANCE):c.1525A>C (p.Arg509=) GRCh37: Chr6:35434036 GRCh38: Chr6:35466259	FANCE		Fanconi anemia complementation group E	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 166642299.	NM_021922.3(FANCE):c.1316+20T>C GRCh37: Chr6:35427557 GRCh38: Chr6:35459780	FANCE		Fanconi anemia complementation group E	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 1661882100.	NM_021922.3(FANCE):c.856-11C>G GRCh37: Chr6:35425322 GRCh38: Chr6:35457545	FANCE		Fanconi anemia complementation group E	Likely benign (Jul 30, 2022)	criteria provided, single submitter

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