ClinVar for MedGen (Select 323016) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824741.	NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu) GRCh37: Chr15:89849318 GRCh38: Chr15:89306087	FANCI	F1051L, F1084L, F1144L	Fanconi anemia complementation group I	Uncertain significance (Jan 8, 2023)	criteria provided, single submitter
Select item 24413502.	NM_001113378.2(FANCI):c.204A>G (p.Ile68Met) GRCh37: Chr15:89803990 GRCh38: Chr15:89260759	FANCI	I68M	Fanconi anemia complementation group I	Uncertain significance (Feb 9, 2021)	criteria provided, single submitter
Select item 24413493.	NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu) GRCh37: Chr15:89817474 GRCh38: Chr15:89274243	FANCI	Q258E, Q351E	Fanconi anemia complementation group I	Uncertain significance (May 23, 2019)	criteria provided, single submitter
Select item 24413484.	NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr) GRCh37: Chr15:89807256 GRCh38: Chr15:89264025	FANCI	K130T, K223T	Fanconi anemia complementation group I	Uncertain significance (Jun 9, 2021)	criteria provided, single submitter
Select item 16925615.	NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) GRCh37: Chr15:89848852 GRCh38: Chr15:89305621	FANCI	Q1031R, Q1091R, Q998R	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jan 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16925546.	NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) GRCh37: Chr15:89820092 GRCh38: Chr15:89276861	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16925537.	NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) GRCh37: Chr15:89819977 GRCh38: Chr15:89276746	FANCI	V290A, V383A	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16750748.	NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) GRCh37: Chr15:89856192 GRCh38: Chr15:89312961	FANCI	A1144P, A1177P, A1237P	Fanconi anemia complementation group I, Inborn genetic diseases, Fanconi anemia	Uncertain significance (Jul 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16629009.	NM_001113378.2(FANCI):c.2291+12C>G GRCh37: Chr15:89836306 GRCh38: Chr15:89293075	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165542910.	NM_001113378.2(FANCI):c.3007-7A>G GRCh37: Chr15:89847088 GRCh38: Chr15:89303857	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165080211.	NM_001113378.2(FANCI):c.3059-17T>A GRCh37: Chr15:89848329 GRCh38: Chr15:89305098	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162745412.	NM_001113378.2(FANCI):c.3652-10A>T GRCh37: Chr15:89856125 GRCh38: Chr15:89312894	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 162724813.	NM_001113378.2(FANCI):c.3592-16C>T GRCh37: Chr15:89850828 GRCh38: Chr15:89307597	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161836014.	NM_001113378.2(FANCI):c.2890-19G>A GRCh37: Chr15:89844538 GRCh38: Chr15:89301307	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161681715.	NM_001113378.2(FANCI):c.165C>T (p.Pro55=) GRCh37: Chr15:89803951 GRCh38: Chr15:89260720	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160664616.	NM_001113378.2(FANCI):c.3592-9G>A GRCh37: Chr15:89850835 GRCh38: Chr15:89307604	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Feb 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159885017.	NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) GRCh37: Chr15:89847139 GRCh38: Chr15:89303908	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Benign/Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159310118.	NM_001113378.2(FANCI):c.1513-16A>C GRCh37: Chr15:89824980 GRCh38: Chr15:89281749	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159074419.	NM_001113378.2(FANCI):c.3537+19C>G GRCh37: Chr15:89849444 GRCh38: Chr15:89306213	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158969120.	NM_001113378.2(FANCI):c.1699-17del GRCh37: Chr15:89828309 GRCh38: Chr15:89285078	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157765921.	NM_001113378.2(FANCI):c.669+14A>G GRCh37: Chr15:89807271 GRCh38: Chr15:89264040	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156921222.	NM_001113378.2(FANCI):c.534C>T (p.Thr178=) GRCh37: Chr15:89806680 GRCh38: Chr15:89263449	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155226123.	NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) GRCh37: Chr15:89850897 GRCh38: Chr15:89307666	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153474724.	NM_001113378.2(FANCI):c.1822-18C>T GRCh37: Chr15:89833426 GRCh38: Chr15:89290195	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151238425.	NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) GRCh37: Chr15:89807780 GRCh38: Chr15:89264549	FANCI	I140V, I233V	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151191426.	NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) GRCh37: Chr15:89804945 GRCh38: Chr15:89261714	FANCI	K140E, K47E	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149157627.	NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) GRCh37: Chr15:89857870 GRCh38: Chr15:89314639	FANCI	I1250V, I1157V, I1190V	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Dec 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147429028.	NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) GRCh37: Chr15:89817478 GRCh38: Chr15:89274247	FANCI	N259S, N352S	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147089829.	NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) GRCh37: Chr15:89857918 GRCh38: Chr15:89314687	FANCI	H1173Y, H1206Y, H1266Y	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146976230.	NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) GRCh37: Chr15:89858588 GRCh38: Chr15:89315357	FANCI	L1205I, L1298I, L1238I	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145098531.	NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) GRCh37: Chr15:89807796 GRCh38: Chr15:89264565	FANCI	S238N, S145N	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145044932.	NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) GRCh37: Chr15:89807232 GRCh38: Chr15:89264001	FANCI	Y215C, Y122C	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144613733.	NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) GRCh37: Chr15:89807253 GRCh38: Chr15:89264022	FANCI	S222F, S129F	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144173434.	NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) GRCh37: Chr15:89817421 GRCh38: Chr15:89274190	FANCI	S240, S333	Fanconi anemia, Fanconi anemia complementation group I	Pathogenic/Likely pathogenic (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144059835.	NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) GRCh37: Chr15:89834904 GRCh38: Chr15:89291673	FANCI	I558V, I651V	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144058936.	NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) GRCh37: Chr15:89850898 GRCh38: Chr15:89307667	FANCI	V1123I, V1216I, V1156I	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144000237.	NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) GRCh37: Chr15:89856177 GRCh38: Chr15:89312946	FANCI	K1139E, K1172E, K1232E	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143956738.	NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) GRCh37: Chr15:89807799 GRCh38: Chr15:89264568	FANCI	A146V, A239V	Fanconi anemia, Fanconi anemia complementation group I, Inborn genetic diseases	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143803139.	NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) GRCh37: Chr15:89848405-89848406 GRCh38: Chr15:89305174-89305175	FANCI	K980fs, K1040fs, K947fs	Fanconi anemia complementation group I, Fanconi anemia	Pathogenic/Likely pathogenic (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143245440.	NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) GRCh37: Chr15:89826440 GRCh38: Chr15:89283209	FANCI	L460M, L553M	Fanconi anemia complementation group I, Inborn genetic diseases, Fanconi anemia	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143018941.	NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) GRCh37: Chr15:89843147 GRCh38: Chr15:89299916	FANCI	A825V, A918V, A858V	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142760442.	NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) GRCh37: Chr15:89848420 GRCh38: Chr15:89305189	FANCI	L952V, L985V, L1045V	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142524543.	NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) GRCh37: Chr15:89837113-89837114 GRCh38: Chr15:89293882-89293883	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Pathogenic (Jul 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142083544.	NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) GRCh37: Chr15:89838232 GRCh38: Chr15:89295001	FANCI	Q755R, Q848R	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141590645.	NM_001113378.2(FANCI):c.875A>G (p.His292Arg) GRCh37: Chr15:89811749 GRCh38: Chr15:89268518	FANCI	H199R, H292R	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141510346.	NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) GRCh37: Chr15:89847132 GRCh38: Chr15:89303901	FANCI	K1015R, K922R, K955R	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140726247.	NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) GRCh37: Chr15:89848889 GRCh38: Chr15:89305658	FANCI	I1010M, I1043M, I1103M	Fanconi anemia, Inborn genetic diseases, Fanconi anemia complementation group I	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140047248.	NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) GRCh37: Chr15:89844603 GRCh38: Chr15:89301372	FANCI	S919T, S886T, S979T	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139265249.	NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) GRCh37: Chr15:89806663 GRCh38: Chr15:89263432	FANCI	Y173H, Y80H	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138640850.	NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) GRCh37: Chr15:89837122 GRCh38: Chr15:89293891	FANCI	I784L, I691L	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137885551.	NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) GRCh37: Chr15:89843584-89843585 GRCh38: Chr15:89300353-89300354	FANCI	R894fs, R954fs, R861fs	Fanconi anemia, Fanconi anemia complementation group I	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137382452.	NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) GRCh37: Chr15:89838316 GRCh38: Chr15:89295085	FANCI	D876G, D783G	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Mar 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136899953.	NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) GRCh37: Chr15:89858591 GRCh38: Chr15:89315360	FANCI	R1206G, R1239G, R1299G	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136693254.	NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) GRCh37: Chr15:89859634 GRCh38: Chr15:89316403	FANCI, POLG, POLGARF	A1251S, A1311S, A1218S	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135197555.	NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) GRCh37: Chr15:89828433 GRCh38: Chr15:89285202	FANCI	R509Q, R602Q	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134724356.	NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) GRCh37: Chr15:89825002 GRCh38: Chr15:89281771	FANCI	L414F, L507F	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134133157.	NM_001113378.2(FANCI):c.1382-5T>C GRCh37: Chr15:89824396 GRCh38: Chr15:89281165	FANCI		Fanconi anemia complementation group I	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 133763158.	NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) GRCh37: Chr15:89828425 GRCh38: Chr15:89285194	FANCI		Fanconi anemia, Fanconi anemia complementation group I, not specified	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133651959.	NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) GRCh37: Chr15:89825020 GRCh38: Chr15:89281789	FANCI	M420V, M513V	Fanconi anemia complementation group I, not specified	Uncertain significance (Jan 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 132707860.	NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) GRCh37: Chr15:89817507 GRCh38: Chr15:89274276	FANCI	T269A, T362A	Fanconi anemia complementation group I	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132706161.	NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) GRCh37: Chr15:89790903 GRCh38: Chr15:89247672	FANCI	A9T	Fanconi anemia complementation group I	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 132659862.	NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) GRCh37: Chr15:89803995 GRCh38: Chr15:89260764	FANCI	T70I	Fanconi anemia complementation group I, not provided	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132438463.	NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) GRCh37: Chr15:89856158-89856159 GRCh38: Chr15:89312927-89312928	FANCI	T1133fs, T1166fs, T1226fs	Fanconi anemia complementation group I	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 131971864.	NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) GRCh37: Chr15:89820102 GRCh38: Chr15:89276871	FANCI	I332V, I425V	Fanconi anemia complementation group I, not provided, Fanconi anemia	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131703465.	NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) GRCh37: Chr15:89835967 GRCh38: Chr15:89292736	FANCI	T588P, T681P	not provided, Fanconi anemia complementation group I, Fanconi anemia, not specified	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116434266.	NM_001113378.2(FANCI):c.3720+14A>G GRCh37: Chr15:89856217 GRCh38: Chr15:89312986	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110784267.	NM_001113378.2(FANCI):c.822C>T (p.His274=) GRCh37: Chr15:89811696 GRCh38: Chr15:89268465	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Likely benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110361568.	NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) GRCh37: Chr15:89844613 GRCh38: Chr15:89301382	FANCI		Fanconi anemia, Fanconi anemia complementation group I	Likely benign (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 108049669.	NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) GRCh37: Chr15:89837121 GRCh38: Chr15:89293890	FANCI		Fanconi anemia, not specified, Fanconi anemia complementation group I	Likely benign (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106260770.	NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) GRCh37: Chr15:89828370 GRCh38: Chr15:89285139	FANCI	E488G, E581G	Fanconi anemia, not provided, Fanconi anemia complementation group I	Uncertain significance (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104694571.	NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) GRCh37: Chr15:89848403 GRCh38: Chr15:89305172	FANCI	Y1039C, Y946C, Y979C	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103941772.	NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) GRCh37: Chr15:89836059 GRCh38: Chr15:89292828	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103862673.	NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) GRCh37: Chr15:89817498 GRCh38: Chr15:89274267	FANCI	Y359N, Y266N	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103636674.	NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) GRCh37: Chr15:89838233 GRCh38: Chr15:89295002	FANCI	Q848H, Q755H	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103109675.	NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) GRCh37: Chr15:89843131 GRCh38: Chr15:89299900	FANCI	Q853, Q820, Q913*	Fanconi anemia complementation group I	Pathogenic/Likely pathogenic (Feb 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102549076.	NM_001113378.2(FANCI):c.197G>A (p.Arg66His) GRCh37: Chr15:89803983 GRCh38: Chr15:89260752	FANCI	R66H	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102296277.	NM_001113378.2(FANCI):c.1A>G (p.Met1Val) GRCh37: Chr15:89790879 GRCh38: Chr15:89247648	FANCI	M1V	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102017278.	NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) GRCh37: Chr15:89803992 GRCh38: Chr15:89260761	FANCI	Y69C	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101844679.	NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) GRCh37: Chr15:89807795 GRCh38: Chr15:89264564	FANCI	S145G, S238G	not provided, Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101445280.	NM_001113378.2(FANCI):c.1698+6G>T GRCh37: Chr15:89826487 GRCh38: Chr15:89283256	FANCI		Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100343281.	NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) GRCh37: Chr15:89848591 GRCh38: Chr15:89305360	FANCI	T1009R, T1069R, T976R	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99824482.	NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) GRCh37: Chr15:89811724 GRCh38: Chr15:89268493	FANCI	E191K, E284K	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99824383.	NM_001113378.2(FANCI):c.775G>A (p.Val259Met) GRCh37: Chr15:89811649 GRCh38: Chr15:89268418	FANCI	V166M, V259M	Fanconi anemia complementation group I	Uncertain significance (Jan 7, 2020)	criteria provided, single submitter
Select item 99824284.	NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) GRCh37: Chr15:89856139 GRCh38: Chr15:89312908	FANCI	K1126R, K1159R, K1219R	Fanconi anemia complementation group I	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99753685.	NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) GRCh37: Chr15:89804876 GRCh38: Chr15:89261645	FANCI	R117G, R24G	Fanconi anemia complementation group I	Uncertain significance (Feb 23, 2020)	criteria provided, single submitter
Select item 99752686.	NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) GRCh37: Chr15:89804019 GRCh38: Chr15:89260788	FANCI	S78L	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99752487.	NM_001113378.2(FANCI):c.546-5C>T GRCh37: Chr15:89807129 GRCh38: Chr15:89263898	FANCI		Fanconi anemia complementation group I	Uncertain significance (Aug 27, 2020)	criteria provided, single submitter
Select item 99749088.	NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) GRCh37: Chr15:89859688 GRCh38: Chr15:89316457	POLG, POLGARF, FANCI		Fanconi anemia, not provided, Fanconi anemia complementation group I	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96194989.	NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) GRCh37: Chr15:89849409 GRCh38: Chr15:89306178	FANCI	T1114R, T1174R, T1081R	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94880990.	NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) GRCh37: Chr15:89850889 GRCh38: Chr15:89307658	FANCI	I1120V, I1153V, I1213V	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94757391.	NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) GRCh37: Chr15:89843606 GRCh38: Chr15:89300375	FANCI	R867Q, R900Q, R960Q	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94733292.	NM_001113378.2(FANCI):c.571G>A (p.Val191Met) GRCh37: Chr15:89807159 GRCh38: Chr15:89263928	FANCI	V98M, V191M	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94699493.	NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) GRCh37: Chr15:89858594 GRCh38: Chr15:89315363	FANCI	E1207K, E1300K, E1240K	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94427594.	NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) GRCh37: Chr15:89858592 GRCh38: Chr15:89315361	FANCI	R1206Q, R1239Q, R1299Q	Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93890095.	NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) GRCh37: Chr15:89836269 GRCh38: Chr15:89293038	FANCI	Y756H, Y663H	not provided, Fanconi anemia, Fanconi anemia complementation group I	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93663196.	NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) GRCh37: Chr15:89838257-89838258 GRCh38: Chr15:89295026-89295027	FANCI	G857fs, G764fs	Fanconi anemia, Fanconi anemia complementation group I	Pathogenic/Likely pathogenic (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93657797.	NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) GRCh37: Chr15:89811685 GRCh38: Chr15:89268454	FANCI	I178V, I271V	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93618098.	NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) GRCh37: Chr15:89837100 GRCh38: Chr15:89293869	FANCI	M683I, M776I	Fanconi anemia complementation group I, Fanconi anemia	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92973299.	NM_001113378.2(FANCI):c.3350-88A>G GRCh37: Chr15:89849150 GRCh38: Chr15:89305919	FANCI		Fanconi anemia complementation group I	Pathogenic (Feb 7, 2011)	no assertion criteria provided
Select item 929731100.	NM_001113378.2(FANCI):c.3058+4A>G GRCh37: Chr15:89847150 GRCh38: Chr15:89303919	FANCI		Fanconi anemia	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter

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