ClinVar for MedGen (Select 483333) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792101.	GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0 GRCh38: Chr16:89764114-89781847	FANCA		Fanconi anemia complementation group A	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25065512.	GRCh37/hg19 16q24.3(chr16:89818649-89883044) GRCh37: Chr16:89818649-89883044	FANCA		Fanconi anemia complementation group A	Pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 25065183.	GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1 GRCh38: Chr16:89764796-89811592	FANCA		Fanconi anemia complementation group A	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 25040984.	NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser) GRCh37: Chr16:89851365 GRCh38: Chr16:89784957	FANCA	F456S	Fanconi anemia complementation group A	Likely pathogenic (May 4, 2023)	criteria provided, single submitter
Select item 24448875.	NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln) GRCh37: Chr16:89858901 GRCh38: Chr16:89792493	FANCA	L354Q	Fanconi anemia complementation group A	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24441316.	NM_000135.4(FANCA):c.2150dup (p.Met717fs) GRCh37: Chr16:89838086-89838087 GRCh38: Chr16:89771678-89771679	FANCA	M717fs	Fanconi anemia complementation group A	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24413427.	NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu) GRCh37: Chr16:89816223 GRCh38: Chr16:89749815	FANCA	F1052L	Fanconi anemia complementation group A	Uncertain significance (Mar 7, 2020)	criteria provided, single submitter
Select item 24413418.	NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe) GRCh37: Chr16:89831405 GRCh38: Chr16:89764997	FANCA	L891F	Fanconi anemia complementation group A	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 24413409.	NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser) GRCh37: Chr16:89839733 GRCh38: Chr16:89773325	FANCA	T654S	Fanconi anemia complementation group A	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 244021210.	NM_000135.4(FANCA):c.3828+1del GRCh37: Chr16:89807211 GRCh38: Chr16:89740803	FANCA, ZNF276		Fanconi anemia complementation group A	Likely pathogenic (Nov 22, 2022)	criteria provided, single submitter
Select item 243616311.	NM_000135.4(FANCA):c.50dup (p.Arg18fs) GRCh37: Chr16:89882973-89882974 GRCh38: Chr16:89816565-89816566	FANCA	R18fs	Fanconi anemia complementation group A	Pathogenic (Dec 2, 2022)	criteria provided, single submitter
Select item 241274712.	NM_000135.4(FANCA):c.1492del (p.Leu498fs) GRCh37: Chr16:89849489 GRCh38: Chr16:89783081	FANCA	L498fs	Fanconi anemia complementation group A	Pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 219749913.	NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile) GRCh37: Chr16:89838150 GRCh38: Chr16:89771742	FANCA	S696I	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215428114.	NM_000135.4(FANCA):c.1567G>T (p.Val523Phe) GRCh37: Chr16:89849326 GRCh38: Chr16:89782918	FANCA	V523F	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206119915.	NM_000135.4(FANCA):c.505G>C (p.Glu169Gln) GRCh37: Chr16:89877132 GRCh38: Chr16:89810724	FANCA	E169Q	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172643316.	NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter) GRCh37: Chr16:89858338 GRCh38: Chr16:89791930	FANCA	E408*	Fanconi anemia complementation group A	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172639117.	NM_000135.4(FANCA):c.714dup (p.Val239fs) GRCh37: Chr16:89869744-89869745 GRCh38: Chr16:89803336-89803337	FANCA	V207fs, V239fs	Fanconi anemia complementation group A	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172574418.	NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter) GRCh37: Chr16:89839721 GRCh38: Chr16:89773313	FANCA	G658*	Fanconi anemia complementation group A	Likely pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 172563419.	NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter) GRCh37: Chr16:89813027 GRCh38: Chr16:89746619	FANCA	Q1160*	Fanconi anemia complementation group A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172516020.	NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter) GRCh37: Chr16:89842162 GRCh38: Chr16:89775754	FANCA	E630*	Fanconi anemia complementation group A	Likely pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 172435321.	NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter) GRCh37: Chr16:89846338 GRCh38: Chr16:89779930	FANCA	E552*	Fanconi anemia complementation group A	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 172415322.	NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) GRCh37: Chr16:89818618 GRCh38: Chr16:89752210	FANCA	Y998*	Fanconi anemia complementation group A	Likely pathogenic (Nov 5, 2021)	criteria provided, single submitter
Select item 172410723.	NM_000135.4(FANCA):c.301C>T (p.Gln101Ter) GRCh37: Chr16:89877462 GRCh38: Chr16:89811054	FANCA	Q101*	Fanconi anemia complementation group A	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 171097524.	NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser) GRCh37: Chr16:89805376 GRCh38: Chr16:89738968	FANCA, ZNF276	P1392S, P1393L	Fanconi anemia complementation group A	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 171096425.	NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile) GRCh37: Chr16:89838165 GRCh38: Chr16:89771757	FANCA	N691I	Fanconi anemia complementation group A	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 171096326.	NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser) GRCh37: Chr16:89816222 GRCh38: Chr16:89749814	FANCA	F1052S	Fanconi anemia complementation group A	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 171095927.	NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys) GRCh37: Chr16:89811461 GRCh38: Chr16:89745053	FANCA	E1178K	Fanconi anemia complementation group A	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 171094028.	NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe) GRCh37: Chr16:89807245 GRCh38: Chr16:89740837	FANCA, ZNF276	L1265F	Fanconi anemia complementation group A	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 170771829.	NM_000135.4(FANCA):c.971T>C (p.Leu324Pro) GRCh37: Chr16:89862349 GRCh38: Chr16:89795941	FANCA	L324P	Fanconi anemia complementation group A	Likely pathogenic	criteria provided, single submitter
Select item 170652830.	NM_000135.4(FANCA):c.1165G>T (p.Val389Leu) GRCh37: Chr16:89858395 GRCh38: Chr16:89791987	FANCA	V389L	Fanconi anemia complementation group A	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 170553831.	NM_000135.4(FANCA):c.2852+1del GRCh37: Chr16:89828356 GRCh38: Chr16:89761948	FANCA		Fanconi anemia complementation group A	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170441032.	NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp) GRCh37: Chr16:89838118 GRCh38: Chr16:89771710	FANCA	N707D	Inborn genetic diseases, Fanconi anemia complementation group A	Uncertain significance (Jun 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169855233.	NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) GRCh37: Chr16:89839781 GRCh38: Chr16:89773373	FANCA	G638*	Fanconi anemia, Fanconi anemia complementation group A	Likely pathogenic (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169222834.	NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) GRCh37: Chr16:89805083 GRCh38: Chr16:89738675	FANCA, ZNF276	V1432L	Fanconi anemia complementation group A, Fanconi anemia	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 169220435.	NM_000135.4(FANCA):c.1799G>A (p.Arg600His) GRCh37: Chr16:89845236 GRCh38: Chr16:89778828	FANCA	R600H	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169153536.	NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) GRCh37: Chr16:89882998-89882999 GRCh38: Chr16:89816590-89816591	FANCA, LOC112486223	S9L	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169152937.	NM_000135.2:c.1471-490_3627-655del	FANCA		Fanconi anemia complementation group A	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 169110338.	NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) GRCh37: Chr16:89857827 GRCh38: Chr16:89791419	FANCA	Y448C	Fanconi anemia complementation group A	Pathogenic (Jun 6, 2022)	no assertion criteria provided
Select item 169110239.	NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) GRCh37: Chr16:89831397 GRCh38: Chr16:89764989	FANCA	W893*	Fanconi anemia complementation group A	Pathogenic (Jun 6, 2022)	no assertion criteria provided
Select item 169109540.	NM_000135.4(FANCA):c.495del (p.Phe166fs) GRCh37: Chr16:89877142 GRCh38: Chr16:89810734	FANCA	F166fs	Fanconi anemia complementation group A	Pathogenic (Jun 6, 2022)	no assertion criteria provided
Select item 167987241.	NM_018062.4(FANCL):c.761_771del (p.Leu254fs) GRCh37: Chr2:58390573-58390583 GRCh38: Chr2:58163438-58163448	FANCL	L254fs, L259fs, L269fs	Fanconi anemia complementation group A	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 167507242.	NM_000135.4(FANCA):c.2013T>C (p.Asp671=) GRCh37: Chr16:89839680 GRCh38: Chr16:89773272	FANCA		Fanconi anemia complementation group A	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 164337043.	NM_000135.4(FANCA):c.207T>C (p.Cys69=) GRCh37: Chr16:89881004 GRCh38: Chr16:89814596	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164241144.	NM_000135.4(FANCA):c.2602-16T>G GRCh37: Chr16:89831490 GRCh38: Chr16:89765082	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163833945.	NM_000135.4(FANCA):c.3349-19G>T GRCh37: Chr16:89813317 GRCh38: Chr16:89746909	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161188346.	NM_000135.4(FANCA):c.2779-5C>G GRCh37: Chr16:89828435 GRCh38: Chr16:89762027	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160225647.	NM_000135.4(FANCA):c.2852+13A>T GRCh37: Chr16:89828344 GRCh38: Chr16:89761936	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160160948.	NM_000135.4(FANCA):c.2152-20T>A GRCh37: Chr16:89837062 GRCh38: Chr16:89770654	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160001549.	NM_000135.4(FANCA):c.1007-17T>C GRCh37: Chr16:89858972 GRCh38: Chr16:89792564	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159423450.	NM_000135.4(FANCA):c.3409-18C>T GRCh37: Chr16:89813114 GRCh38: Chr16:89746706	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159422451.	NM_000135.4(FANCA):c.2504+12_2504+14del GRCh37: Chr16:89836231-89836233 GRCh38: Chr16:89769823-89769825	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Dec 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158653252.	NM_000135.4(FANCA):c.2602-18G>C GRCh37: Chr16:89831492 GRCh38: Chr16:89765084	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158322953.	NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) GRCh37: Chr16:89818604 GRCh38: Chr16:89752196	FANCA	N1003S	Fanconi anemia complementation group A, Fanconi anemia	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 158210254.	NM_000135.4(FANCA):c.1716-20T>C GRCh37: Chr16:89845431 GRCh38: Chr16:89779023	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158184655.	NM_000135.4(FANCA):c.523-37TTGTTT[2] GRCh37: Chr16:89874795-89874800 GRCh38: Chr16:89808387-89808392	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157672256.	NM_000135.4(FANCA):c.3408+16A>G GRCh37: Chr16:89813223 GRCh38: Chr16:89746815	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157581757.	NM_000135.4(FANCA):c.710-20_710-19del GRCh37: Chr16:89869768-89869769 GRCh38: Chr16:89803360-89803361	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157006558.	NM_000135.4(FANCA):c.1776+11G>A GRCh37: Chr16:89845340 GRCh38: Chr16:89778932	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156576559.	NM_000135.4(FANCA):c.2496C>T (p.Phe832=) GRCh37: Chr16:89836253 GRCh38: Chr16:89769845	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156475460.	NM_000135.4(FANCA):c.426+13C>T GRCh37: Chr16:89877324 GRCh38: Chr16:89810916	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156318961.	NM_000135.4(FANCA):c.1471-20G>A GRCh37: Chr16:89849530 GRCh38: Chr16:89783122	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156264362.	NM_000135.4(FANCA):c.2151+20A>G GRCh37: Chr16:89838066 GRCh38: Chr16:89771658	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156040563.	NM_000135.4(FANCA):c.1776+13C>T GRCh37: Chr16:89845338 GRCh38: Chr16:89778930	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151941864.	NM_000135.4(FANCA):c.1251G>T (p.Gln417His) GRCh37: Chr16:89857919 GRCh38: Chr16:89791511	FANCA	Q417H	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151376565.	NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) GRCh37: Chr16:89858410 GRCh38: Chr16:89792002	FANCA	V384I	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151262466.	NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) GRCh37: Chr16:89811442 GRCh38: Chr16:89745034	FANCA	R1184Q	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150952067.	NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) GRCh37: Chr16:89849504 GRCh38: Chr16:89783096	FANCA	I493V	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150865968.	NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn) GRCh37: Chr16:89836290 GRCh38: Chr16:89769882	FANCA	S820N	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150610769.	NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile) GRCh37: Chr16:89831348 GRCh38: Chr16:89764940	FANCA	L910I	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148202470.	NM_000135.4(FANCA):c.2089G>C (p.Val697Leu) GRCh37: Chr16:89838148 GRCh38: Chr16:89771740	FANCA	V697L	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Dec 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 146346271.	NM_000135.4(FANCA):c.1226-13G>A GRCh37: Chr16:89857957 GRCh38: Chr16:89791549	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146111572.	NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) GRCh37: Chr16:89838111 GRCh38: Chr16:89771703	FANCA	P709L	not provided, Fanconi anemia, Fanconi anemia complementation group A	Conflicting interpretations of pathogenicity (May 16, 2023)	criteria provided, conflicting interpretations
Select item 146093773.	NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) GRCh37: Chr16:89837023 GRCh38: Chr16:89770615	FANCA	T724M	Ovarian cancer, Fanconi anemia, Fanconi anemia complementation group A	Conflicting interpretations of pathogenicity (Jan 19, 2022)	criteria provided, conflicting interpretations
Select item 145914274.	NM_000135.4(FANCA):c.2778+12T>C GRCh37: Chr16:89831286 GRCh38: Chr16:89764878	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Likely benign (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145107375.	NM_000135.4(FANCA):c.1225+14C>T GRCh37: Chr16:89858321 GRCh38: Chr16:89791913	FANCA		Fanconi anemia complementation group A, Fanconi anemia	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 144913276.	NM_000135.4(FANCA):c.797C>T (p.Thr266Met) GRCh37: Chr16:89866042 GRCh38: Chr16:89799634	FANCA	T234M, T266M	Fanconi anemia, Fanconi anemia complementation group A	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 144754577.	NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) GRCh37: Chr16:89805671 GRCh38: Chr16:89739263	FANCA, ZNF276	A1346V	Fanconi anemia, Fanconi anemia complementation group A	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 144427378.	NM_000135.4(FANCA):c.2257A>G (p.Met753Val) GRCh37: Chr16:89836633 GRCh38: Chr16:89770225	FANCA	M753V	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Dec 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144182879.	NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) GRCh37: Chr16:89809338 GRCh38: Chr16:89742930	FANCA	S1212F	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144174380.	NM_000135.4(FANCA):c.1360-12C>T GRCh37: Chr16:89851384 GRCh38: Chr16:89784976	FANCA		Fanconi anemia, Fanconi anemia complementation group A	Likely benign (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143416681.	NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) GRCh37: Chr16:89845241 GRCh38: Chr16:89778833	FANCA	D598E	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142843182.	NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) GRCh37: Chr16:89836624 GRCh38: Chr16:89770216	FANCA	R756C	Fanconi anemia complementation group A, not specified, Fanconi anemia	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141998183.	NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) GRCh37: Chr16:89836982 GRCh38: Chr16:89770574	FANCA	P738S	Fanconi anemia, Fanconi anemia complementation group A	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 141934284.	NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) GRCh37: Chr16:89862326 GRCh38: Chr16:89795918	FANCA	P332T	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141534585.	NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) GRCh37: Chr16:89805332 GRCh38: Chr16:89738924	FANCA, ZNF276	L1406F, N1408Y	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141396586.	NM_000135.4(FANCA):c.2001dup (p.Ser668fs) GRCh37: Chr16:89839691-89839692 GRCh38: Chr16:89773283-89773284	FANCA	S668fs	Fanconi anemia, Fanconi anemia complementation group A	Pathogenic/Likely pathogenic (Apr 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141306487.	NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg) GRCh37: Chr16:89825043 GRCh38: Chr16:89758635	FANCA	G975R	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140846488.	NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) GRCh37: Chr16:89806438 GRCh38: Chr16:89740030	FANCA, ZNF276	I1300V	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139936489.	NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) GRCh37: Chr16:89805354 GRCh38: Chr16:89738946	FANCA, ZNF276	A1399V	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138960590.	NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr) GRCh37: Chr16:89837014 GRCh38: Chr16:89770606	FANCA	C727Y	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138781291.	NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) GRCh37: Chr16:89813257 GRCh38: Chr16:89746849	FANCA	I1130M	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138257892.	NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) GRCh37: Chr16:89849299 GRCh38: Chr16:89782891	FANCA	E532Q	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137182993.	NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) GRCh37: Chr16:89849483 GRCh38: Chr16:89783075	FANCA	P500S	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136362994.	NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) GRCh37: Chr16:89882365 GRCh38: Chr16:89815957	FANCA	P37S	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135889195.	NM_000135.4(FANCA):c.294G>T (p.Leu98Phe) GRCh37: Chr16:89877469 GRCh38: Chr16:89811061	FANCA	L98F	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135635596.	NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) GRCh37: Chr16:89874771 GRCh38: Chr16:89808363	FANCA	S144C, S176C	Fanconi anemia complementation group A, Fanconi anemia	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134967697.	NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) GRCh37: Chr16:89869692 GRCh38: Chr16:89803284	FANCA	T224N, T256N	Fanconi anemia, Fanconi anemia complementation group A	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133981698.	GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1 GRCh37: Chr16:89874496-89888566	FANCA		Fanconi anemia complementation group A	not provided	no assertion provided
Select item 133746099.	NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) GRCh37: Chr16:89831341 GRCh38: Chr16:89764933	FANCA	T912I	Fanconi anemia complementation group A, Fanconi anemia, not specified	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 1337328100.	NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) GRCh37: Chr16:89836329 GRCh38: Chr16:89769921	FANCA	A807V	Fanconi anemia complementation group A, Fanconi anemia, not specified	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts

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