ClinVar for MedGen (Select 41967) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25816971.	NM_032444.4(SLX4):c.100C>T (p.Gln34Ter) GRCh37: Chr16:3658866 GRCh38: Chr16:3608865	SLX4	Q34*	Fanconi anemia	Pathogenic (Aug 14, 2023)	criteria provided, single submitter
Select item 25814742.	NM_021922.3(FANCE):c.339del (p.Leu114fs) GRCh37: Chr6:35423612 GRCh38: Chr6:35455835	FANCE	L114fs	Fanconi anemia	Pathogenic (Aug 31, 2023)	criteria provided, single submitter
Select item 25040123.	NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs) GRCh37: Chr9:35075289-35075291 GRCh38: Chr9:35075292-35075294	FANCG	E489fs	Fanconi anemia	Likely pathogenic (Apr 12, 2023)	criteria provided, single submitter
Select item 25038854.	NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del GRCh37: Chr16:89846366-89874701	FANCA		Fanconi anemia	Pathogenic (Apr 11, 2023)	criteria provided, single submitter
Select item 25010395.	NC_000016.9:g.(89877480_89880927)_(89883066_?)del GRCh37: Chr16:89877480-89883066	FANCA		Fanconi anemia	Pathogenic (Mar 22, 2023)	criteria provided, single submitter
Select item 25010386.	NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del GRCh37: Chr16:89866047-89880927	FANCA		Fanconi anemia	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 25010377.	NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del GRCh37: Chr16:89828431-89842149	FANCA		Fanconi anemia	Pathogenic (Mar 22, 2023)	criteria provided, single submitter
Select item 25010368.	NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del GRCh37: Chr16:89862427-89869666	FANCA		Fanconi anemia	Likely pathogenic (Mar 29, 2023)	criteria provided, single submitter
Select item 24459009.	NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter) GRCh37: Chr3:10088381 GRCh38: Chr3:10046697	FANCD2, LOC107303338	Q418*	Fanconi anemia	Likely pathogenic (Feb 17, 2023)	criteria provided, single submitter
Select item 244574010.	NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter) GRCh37: Chr16:89833579 GRCh38: Chr16:89767171	FANCA	C857*	Fanconi anemia	Pathogenic (Feb 1, 2023)	criteria provided, single submitter
Select item 244569811.	NM_001113378.2(FANCI):c.3187-2A>G GRCh37: Chr15:89848570 GRCh38: Chr15:89305339	FANCI		Fanconi anemia	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 242912812.	NM_000135.4(FANCA):c.2664del (p.Ala889fs) GRCh37: Chr16:89831412 GRCh38: Chr16:89765004	FANCA, LOC130059837	A889fs	Fanconi anemia	Likely pathogenic (Jan 5, 2023)	criteria provided, single submitter
Select item 242848513.	NM_000135.4(FANCA):c.987T>A (p.Thr329=) GRCh37: Chr16:89862333 GRCh38: Chr16:89795925	FANCA		Fanconi anemia	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 242848414.	NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser) GRCh37: Chr14:45644280 GRCh38: Chr14:45175077	FANCM	C749S, C775S	Fanconi anemia	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 242841315.	NM_018062.4(FANCL):c.1020+18T>C GRCh37: Chr2:58388639 GRCh38: Chr2:58161504	FANCL		Fanconi anemia	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 242837216.	NM_022725.4(FANCF):c.175G>C (p.Glu59Gln) GRCh37: Chr11:22647182 GRCh38: Chr11:22625636	FANCF	E59Q	Fanconi anemia	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 242836217.	NM_001018113.3(FANCB):c.1104G>A (p.Ser368=) GRCh37: ChrX:14877304 GRCh38: ChrX:14859182	FANCB		Fanconi anemia	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 242828618.	NM_000135.4(FANCA):c.3348+7G>C GRCh37: Chr16:89815060 GRCh38: Chr16:89748652	FANCA		Fanconi anemia	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 242821119.	NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu) GRCh37: Chr15:89834853 GRCh38: Chr15:89291622	FANCI	F541L, F634L	Fanconi anemia	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 242815320.	NM_018062.4(FANCL):c.369G>A (p.Trp123Ter) GRCh37: Chr2:58449082 GRCh38: Chr2:58221947	FANCL	W123*	Fanconi anemia	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 242810821.	NM_000135.4(FANCA):c.1153C>G (p.His385Asp) GRCh37: Chr16:89858407 GRCh38: Chr16:89791999	FANCA	H385D	Fanconi anemia	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 242785222.	NM_032444.4(SLX4):c.1644C>T (p.Ala548=) GRCh37: Chr16:3647419 GRCh38: Chr16:3597418	SLX4		Fanconi anemia	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 242779823.	NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys) GRCh37: Chr14:45633670 GRCh38: Chr14:45164467	FANCM	Q538K, Q564K	Fanconi anemia	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 242711624.	NC_000003.11:g.(?_10108063)_(10114567_?)del GRCh37: Chr3:10108063-10114567	FANCD2		Fanconi anemia	Pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 242711525.	NC_000003.11:g.(?_10080953)_(10085558_?)del GRCh37: Chr3:10080953-10085558	FANCD2		Fanconi anemia	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 242711426.	NC_000003.11:g.(?_10130113)_(10133956_?)del GRCh37: Chr3:10130113-10133956	FANCD2, FANCD2OS		Fanconi anemia	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 242711327.	NC_000003.11:g.(?_10127476)_(10136978_?)del GRCh37: Chr3:10127476-10136978	FANCD2, FANCD2OS		Fanconi anemia	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 242703728.	NC_000016.9:g.(?_3632343)_(3633531_?)del GRCh37: Chr16:3632343-3633531	SLX4		Fanconi anemia	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 242676929.	NC_000011.9:g.(?_22646232)_(22647356_?)dup GRCh37: Chr11:22646232-22647356	FANCF		Fanconi anemia	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 242663430.	NC_000014.8:g.(?_44820816)_(45645917_?)del GRCh37: Chr14:44820816-45645917	C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1		Fanconi anemia	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 242663331.	NC_000014.8:g.(?_45618020)_(45669211_?)del GRCh37: Chr14:45618020-45669211	FANCM		Fanconi anemia	Likely pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 242663232.	NC_000014.8:g.(?_45654410)_(45657100_?)del GRCh37: Chr14:45654410-45657100	FANCM		Fanconi anemia	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 242663133.	NC_000014.8:g.(?_45639782)_(45669211_?)del GRCh37: Chr14:45639782-45669211	FANCM		Fanconi anemia	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 242643334.	NC_000002.11:g.(?_58386900)_(58393029_?)dup GRCh37: Chr2:58386900-58393029	FANCL, VRK2		Fanconi anemia	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 242643235.	NC_000002.11:g.(?_58386900)_(58459267_?)del GRCh37: Chr2:58386900-58459267	FANCL, VRK2		Fanconi anemia	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 242643136.	NC_000002.11:g.(?_58459169)_(58468448_?)del GRCh37: Chr2:58459169-58468448	FANCL		Fanconi anemia	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 242643037.	NC_000002.11:g.(?_58468333)_(58468448_?)del GRCh37: Chr2:58468333-58468448	FANCL		Fanconi anemia	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 242490538.	NM_022725.4(FANCF):c.306C>T (p.Ala102=) GRCh37: Chr11:22647051 GRCh38: Chr11:22625505	FANCF		Fanconi anemia	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 242373239.	NC_000015.9:g.(?_89790879)_(89825086_?)dup GRCh37: Chr15:89790879-89825086	FANCI		Fanconi anemia	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 242373140.	NC_000015.9:g.(?_89801915)_(89828469_?)del GRCh37: Chr15:89801915-89828469	FANCI		Fanconi anemia	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 242373041.	NC_000015.9:g.(?_89801915)_(89802027_?)del GRCh37: Chr15:89801915-89802027	FANCI		Fanconi anemia	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 242348042.	NC_000023.10:g.(?_14861689)_(14877476_?)dup GRCh37: ChrX:14861689-14877476	FANCB		Fanconi anemia	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 242347943.	NC_000023.10:g.(?_14875974)_(14891184_?)del GRCh37: ChrX:14875974-14891184	FANCB		Fanconi anemia	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 242347844.	NC_000023.10:g.(?_14861689)_(14891184_?)del GRCh37: ChrX:14861689-14891184	FANCB		Fanconi anemia	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 242347745.	NC_000023.10:g.(?_14861689)_(15870650_?)dup GRCh37: ChrX:14861689-15870650	ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2		not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 242301146.	NM_001018113.3(FANCB):c.2439A>G (p.Arg813=) GRCh37: ChrX:14861830 GRCh38: ChrX:14843708	FANCB		Fanconi anemia	Benign (Apr 4, 2022)	criteria provided, single submitter
Select item 242243647.	NC_000009.11:g.(?_97897618)_(97912379_?)del GRCh37: Chr9:97897618-97912379	FANCC		Fanconi anemia	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 242243548.	NC_000016.9:g.(?_89805009)_(89866066_?)dup GRCh37: Chr16:89805009-89866066	FANCA, ZNF276		Fanconi anemia	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 242243449.	NC_000016.9:g.(?_89824965)_(89883023_?)dup GRCh37: Chr16:89824965-89883023	FANCA		Fanconi anemia	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 242243350.	NC_000016.9:g.(?_89611036)_(90106937_?)dup GRCh37: Chr16:89611036-90106937	SPIRE2, TCF25, CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, GAS8-AS1, MC1R, RPL13, SPATA2L, SPATA33, SPG7, TUBB3, VPS9D1, ZNF276		Fanconi anemia	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 242243251.	NC_000016.9:g.(?_89805009)_(89825123_?)del GRCh37: Chr16:89805009-89825123	ZNF276, FANCA		Fanconi anemia	Pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 242243152.	NC_000016.9:g.(?_89864654)_(89883024_?)del GRCh37: Chr16:89864654-89883024	FANCA		Fanconi anemia	Pathogenic (Oct 24, 2021)	criteria provided, single submitter
Select item 242243053.	NC_000016.9:g.(?_89824965)_(89825133_?)del GRCh37: Chr16:89824965-89825133	FANCA		Fanconi anemia	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 242242954.	NC_000016.9:g.(?_89825110)_(89923062_?)del GRCh37: Chr16:89825110-89923062	FANCA, SPIRE2		Fanconi anemia	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 242242855.	NC_000016.9:g.(?_89869657)_(89877489_?)dup GRCh37: Chr16:89869657-89877489	FANCA		Fanconi anemia	Likely pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 242242756.	NC_000016.9:g.(?_89805270)_(89806527_?)dup GRCh37: Chr16:89805270-89806527	FANCA, ZNF276		Fanconi anemia	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 242242657.	NC_000016.9:g.(?_89805270)_(89807294_?)dup GRCh37: Chr16:89805270-89807294	FANCA, ZNF276		Fanconi anemia	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 242242558.	NC_000016.9:g.(?_89869657)_(89881031_?)dup GRCh37: Chr16:89869657-89881031	FANCA		Fanconi anemia	Uncertain significance (Feb 2, 2021)	criteria provided, single submitter
Select item 242242459.	NC_000016.9:g.(?_89818526)_(89833665_?)dup GRCh37: Chr16:89818526-89833665	FANCA		Fanconi anemia	Likely pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 242242360.	NC_000016.9:g.(?_89828347)_(89846375_?)dup GRCh37: Chr16:89828347-89846375	FANCA		Fanconi anemia	Likely pathogenic (Jan 31, 2022)	criteria provided, single submitter
Select item 242242261.	NC_000016.9:g.(?_89556653)_(89851392_?)dup GRCh37: Chr16:89556653-89851392	ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276		Fanconi anemia	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 242242162.	NC_000016.9:g.(?_89842140)_(89851382_?)dup GRCh37: Chr16:89842140-89851382	FANCA		Fanconi anemia	Likely pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 242242063.	NC_000016.9:g.(?_89818536)_(89818822_?)dup GRCh37: Chr16:89818536-89818822	FANCA		Fanconi anemia	Likely pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 242241964.	NC_000016.9:g.(?_89712474)_(89866066_?)del GRCh37: Chr16:89712474-89866066	FANCA, CDK10, SPATA2L, SPATA33, CHMP1A, VPS9D1, ZNF276		Fanconi anemia	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 242241865.	NC_000016.9:g.(?_89862304)_(89866056_?)del GRCh37: Chr16:89862304-89866056	FANCA		Fanconi anemia	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 242241766.	NC_000016.9:g.(?_89862304)_(89869759_?)del GRCh37: Chr16:89862304-89869759	FANCA		Fanconi anemia	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 242241667.	NC_000016.9:g.(?_89828347)_(89874785_?)del GRCh37: Chr16:89828347-89874785	FANCA		Fanconi anemia	Pathogenic (Nov 29, 2021)	criteria provided, single submitter
Select item 242241568.	NC_000016.9:g.(?_89838076)_(89874785_?)del GRCh37: Chr16:89838076-89874785	FANCA		Fanconi anemia	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 242241469.	NC_000016.9:g.(?_89849257)_(89874785_?)del GRCh37: Chr16:89849257-89874785	FANCA		Fanconi anemia	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 242241370.	NC_000016.9:g.(?_89815047)_(89816330_?)del GRCh37: Chr16:89815047-89816330	FANCA		Fanconi anemia	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 242241171.	NC_000016.9:g.(?_89833539)_(89842233_?)del GRCh37: Chr16:89833539-89842233	FANCA		Fanconi anemia	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 242240972.	NC_000016.9:g.(?_89811347)_(89849530_?)del GRCh37: Chr16:89811347-89849530	FANCA		Fanconi anemia	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 242240873.	NC_000016.9:g.(?_89839659)_(89851392_?)del GRCh37: Chr16:89839659-89851392	FANCA		Fanconi anemia	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 242240774.	NC_000016.9:g.(?_89833539)_(89858965_?)del GRCh37: Chr16:89833539-89858965	FANCA		Fanconi anemia	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 242240675.	NC_000016.9:g.(?_89815049)_(89883033_?)del GRCh37: Chr16:89815049-89883033	FANCA		Fanconi anemia	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 242240576.	NC_000016.9:g.(?_89836805)_(89883033_?)del GRCh37: Chr16:89836805-89883033	FANCA		Fanconi anemia	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 242240377.	NC_000016.9:g.(?_89846267)_(89883024_?)del GRCh37: Chr16:89846267-89883024	FANCA		Fanconi anemia	Pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 242240278.	NC_000016.9:g.(?_89809198)_(89809356_?)del GRCh37: Chr16:89809198-89809356	FANCA		Fanconi anemia	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 242240179.	NC_000016.9:g.(?_89831215)_(89831494_?)del GRCh37: Chr16:89831215-89831494	FANCA		Fanconi anemia	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 242199980.	NM_004629.2(FANCG):c.907_908dup (p.Glu304fs) GRCh37: Chr9:35076736-35076737 GRCh38: Chr9:35076739-35076740	FANCG	E304fs	Fanconi anemia	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 242192481.	NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu) GRCh37: Chr14:45657020 GRCh38: Chr14:45187817	FANCM	R1544L, R1570L	Fanconi anemia	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 242177482.	NM_004629.2(FANCG):c.84+16G>A GRCh37: Chr9:35079422 GRCh38: Chr9:35079425	FANCG		Fanconi anemia	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 242171083.	NM_000135.4(FANCA):c.1326C>T (p.Pro442=) GRCh37: Chr16:89857844 GRCh38: Chr16:89791436	FANCA		Fanconi anemia	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 242166984.	NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val) GRCh37: Chr15:89843567 GRCh38: Chr15:89300336	FANCI	A854V, A887V, A947V	Fanconi anemia	Uncertain significance (Dec 26, 2021)	criteria provided, single submitter
Select item 242162785.	NM_032444.4(SLX4):c.805G>T (p.Ala269Ser) GRCh37: Chr16:3652264 GRCh38: Chr16:3602263	SLX4	A269S	Fanconi anemia	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 242101486.	NM_020937.4(FANCM):c.424C>A (p.Pro142Thr) GRCh37: Chr14:45605658 GRCh38: Chr14:45136455	FANCM	P142T	not provided, Fanconi anemia	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242093387.	NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter) GRCh37: Chr16:3639116 GRCh38: Chr16:3589115	SLX4	S1508*	Fanconi anemia	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 242091188.	NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys) GRCh37: ChrX:14882986 GRCh38: ChrX:14864864	FANCB	S216C	Fanconi anemia	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 242088289.	NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu) GRCh37: Chr16:89816304 GRCh38: Chr16:89749896	FANCA	V1025L	Fanconi anemia	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 242067190.	NM_000135.4(FANCA):c.2885A>T (p.His962Leu) GRCh37: Chr16:89825081 GRCh38: Chr16:89758673	FANCA	H962L	Fanconi anemia	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 242050691.	NM_022725.4(FANCF):c.50T>C (p.Val17Ala) GRCh37: Chr11:22647307 GRCh38: Chr11:22625761	FANCF	V17A	Fanconi anemia	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 242045092.	NM_000135.4(FANCA):c.1041C>T (p.Ser347=) GRCh37: Chr16:89858921 GRCh38: Chr16:89792513	FANCA		Fanconi anemia	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 242044893.	NM_004629.2(FANCG):c.1144-18TTC[2] GRCh37: Chr9:35075761-35075763 GRCh38: Chr9:35075764-35075766	FANCG		Fanconi anemia	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 242043894.	NM_000135.4(FANCA):c.1216C>A (p.Leu406Met) GRCh37: Chr16:89858344 GRCh38: Chr16:89791936	FANCA	L406M	Fanconi anemia	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 241998395.	NM_000135.4(FANCA):c.2151+8T>G GRCh37: Chr16:89838078 GRCh38: Chr16:89771670	FANCA		Fanconi anemia	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 241981196.	NM_020937.4(FANCM):c.4425C>G (p.Pro1475=) GRCh37: Chr14:45653015 GRCh38: Chr14:45183812	FANCM		Fanconi anemia	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 241878497.	NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe) GRCh37: Chr15:89836236 GRCh38: Chr15:89293005	FANCI	L652F, L745F	Fanconi anemia	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 241871698.	NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr) GRCh37: Chr16:89809294 GRCh38: Chr16:89742886	FANCA	A1227T	Fanconi anemia	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 241853899.	NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter) GRCh37: Chr14:45623195 GRCh38: Chr14:45153992	FANCM	Q349, Q375	Fanconi anemia	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 2418410100.	NM_020937.4(FANCM):c.4779+10A>T GRCh37: Chr14:45657100 GRCh38: Chr14:45187897	FANCM		Fanconi anemia	Likely benign (Sep 5, 2022)	criteria provided, single submitter

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