A total 1252 pathogenic variants reported in gene FA complementation group A (FANCA)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) SNV
Germline
Chr16:89810716 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA252781 rs_121907930

1 SubmittersRCV000003616

NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) SNV
Germline
Chr16:89799202 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA159229 rs_13336566

9 SubmittersRCV000120911RCV000469548RCV001115652RCV001509536RCV003905153

NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) SNV
Germline
Chr16:89799197 Pathogenic not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA159232 rs_148100796

11 SubmittersRCV000120912RCV000474583RCV000665641RCV001818291RCV003925189

NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) SNV
Germline
Chr16:89792505 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA159238 rs_199967286

6 SubmittersRCV000120914RCV001120561RCV001239310

NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) SNV
Germline
Chr16:89773277 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA159260 rs_587778312

6 SubmittersRCV000120922RCV000667865RCV001243928RCV004975281

NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) SNV
Germline
Chr16:89771757 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
not specified
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA159263 rs_367880372

7 SubmittersRCV001271604RCV000120923RCV000707539RCV004998239

NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) SNV
Germline
Chr16:89771728 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA159266 rs_56369086

8 SubmittersRCV000120924RCV000233082RCV001333235RCV002225374RCV003952596

NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) SNV
Germline
Chr16:89767175 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA159284 rs_370085403

7 SubmittersRCV000120931RCV000668295RCV000766439RCV001447411RCV003398726RCV004975282

NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) SNV
Germline
Chr16:89758581 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA159299 rs_140823801

8 SubmittersRCV000120936RCV000862981RCV001276514RCV004975283RCV003477505RCV003975072

NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) SNV
Germline
Chr16:89746670 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA159310 rs_61753269

12 SubmittersRCV000120940RCV000474415RCV002293419RCV003444203RCV003965014RCV004619201

NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) SNV
Germline
Chr16:89745061 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Hepatoblastoma
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA159313 rs_147017625

8 SubmittersRCV000120941RCV000226225RCV001843480RCV003935154RCV003147340RCV003477506

NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) SNV
Germline
Chr16:89745002 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA332149 rs_143642304

12 SubmittersRCV000120942RCV000204450RCV001115378RCV003952597RCV003407512RCV004975284

NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) SNV
Germline
Chr16:89745001 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA159319 rs_138013482

8 SubmittersRCV000120944RCV000862979RCV001274558RCV003477508RCV003975073RCV004975285

NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) SNV
Germline
Chr16:89811047 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA159334 rs_147176389

5 SubmittersRCV000120950RCV000537860RCV003477509RCV003144133

NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) SNV
Germline
Chr16:89739285 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA159343 rs_149775657

10 SubmittersRCV000120953RCV000666660RCV000824570RCV003477510RCV004742266

NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) SNV
Germline
Chr16:89738893 Conflicting classifications of pathogenicity not specified
Fanconi anemia
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA248738 rs_17227403

17 SubmittersRCV000120955RCV000226145RCV003915205RCV001115284RCV001552904

NM_000135.4(FANCA):c.480G>A (p.Met160Ile) SNV
Germline
Chr16:89810749 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA159359 rs_200603300

7 SubmittersRCV000120959RCV000465739RCV003237725RCV004786379

NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) SNV
Germline
Chr16:89808337 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA159364 rs_587778323

8 SubmittersRCV000120961RCV000672751RCV002055335RCV003477512RCV004742267RCV004975287

NM_000135.4(FANCA):c.80-13C>T SNV
Germline
Chr16:89815999 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA162999 rs_189841793

7 SubmittersRCV000122402RCV001120659RCV001513153RCV002055375

NM_000135.4(FANCA):c.3066+1G>T SNV
Germline
Chr16:89752137 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA270800 rs_587783028

4 SubmittersRCV000144483RCV003522940

NM_000135.4(FANCA):c.283+3A>C SNV
Germline
Chr16:89814517 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA334564 rs_786204204

2 SubmittersRCV000168293RCV001256326

NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) SNV
Germline
Chr16:89767185 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA274891 rs_752160950

7 SubmittersRCV000173013RCV000630944

NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) SNV
Germline
Chr16:89764906 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA10575737 rs_879255255

1 SubmittersRCV000239379

NM_000135.4(FANCA):c.3981C>T (p.His1327=) SNV
Germline
Chr16:89739507 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA337861 rs_141278771

8 SubmittersRCV000198364RCV001818475RCV001118445RCV004975328RCV003430755

NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) SNV
Germline
Chr16:89742862 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA338301 rs_769919783

2 SubmittersRCV000198937RCV000765322

NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) SNV
Germline
Chr16:89765062 Pathogenic/Likely pathogenic Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA338977 rs_780825099

10 SubmittersRCV000199923RCV001091062RCV000674142RCV002252053

NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) SNV
Germline
Chr16:89746890 Pathogenic/Likely pathogenic Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA350699 rs_149277003

10 SubmittersRCV000206698RCV000254722RCV000665865

NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) SNV
Germline
Chr16:89758617 Conflicting classifications of pathogenicity Inborn genetic diseases
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA358217 rs_191943709

6 SubmittersRCV000210699RCV000458460RCV000675145

NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) SNV
Germline
Chr16:89746621 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251141 rs_762837582

4 SubmittersRCV000232454RCV000765323RCV004791354

NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) SNV
Germline
Chr16:89746848 Pathogenic/Likely pathogenic Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8251197 rs_574034197

16 SubmittersRCV000230300RCV000498721RCV000665186

NM_000135.4(FANCA):c.2799A>G (p.Leu933=) SNV
Germline
Chr16:89762002 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251499 rs_148250597

7 SubmittersRCV000234002RCV001094432RCV001818560RCV003477786RCV004975340

NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) SNV
Germline
Chr16:89791422 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8252400 rs_149551759

9 SubmittersRCV000226416RCV001094425RCV001762513RCV003401165

NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) SNV
Germline
Chr16:89799190 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252715 rs_185984960

6 SubmittersRCV000231055RCV001274646RCV002261014RCV004020741

NM_000135.4(FANCA):c.709+5G>T SNV
Germline
Chr16:89805275 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA10583443 rs_759877008

3 SubmittersRCV000233245RCV001256557

NM_000135.4(FANCA):c.694A>C (p.Arg232=) SNV
Germline
Chr16:89805295 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252854 rs_61757384

8 SubmittersRCV000229339RCV001117078RCV001532335RCV002478833RCV004975343

NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) SNV
Germline
Chr16:89815909 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253156 rs_61757383

9 SubmittersRCV000231985RCV001092318RCV001094448

NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) SNV
Germline
Chr16:89816575 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA8253266 rs_762648754

9 SubmittersRCV000665027RCV000233505RCV001770188RCV001818561

NM_000135.4(FANCA):c.2015-5C>T SNV
Germline
Chr16:89771819 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251937 rs_780349960

4 SubmittersRCV000252915RCV000867005RCV003316331

NM_000135.4(FANCA):c.1471-12A>G SNV
Germline
Chr16:89783114 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252300 rs_9282684

8 SubmittersRCV000249843RCV000295581RCV001509534RCV001516753

NM_000135.4(FANCA):c.-18G>A SNV
Germline
Chr16:89816633 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA10587256 rs_886038245

3 SubmittersRCV000253915RCV000367041

NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) SNV
Germline
Chr16:89775768 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251994 rs_139235751

19 SubmittersRCV000255908RCV001800637RCV000475267RCV000989672RCV003920022

NM_000135.4(FANCA):c.4011-1G>A SNV
Germline
Chr16:89739290 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8250816 rs_761988162

2 SubmittersRCV000270448RCV003765581

NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) SNV
Germline
Chr16:89739236 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250797 rs_145886270

9 SubmittersRCV000299065RCV001242774RCV001731595RCV004021684

NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) SNV
Germline
Chr16:89739538 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250852 rs_376523966

6 SubmittersRCV000368836RCV001094402RCV001820952RCV003477891

NM_000135.4(FANCA):c.3514-13G>A SNV
Germline
Chr16:89745084 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251109 rs_200270574

4 SubmittersRCV000374059RCV001482237RCV003237826

NM_000135.4(FANCA):c.1518C>T (p.Leu506=) SNV
Germline
Chr16:89783055 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252282 rs_781524409

2 SubmittersRCV000326012RCV003522958

NM_000135.4(FANCA):c.1209G>A (p.Ala403=) SNV
Germline
Chr16:89791943 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252481 rs_773318145

5 SubmittersRCV000343238RCV001820958RCV001094429RCV004975450

NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) SNV
Germline
Chr16:89805294 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA10638691 rs_886052487

3 SubmittersRCV000989673RCV002521077

NM_000135.4(FANCA):c.386C>T (p.Ala129Val) SNV
Germline
Chr16:89810969 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8253042 rs_577625130

2 SubmittersRCV000371929RCV002522902

NM_000135.4(FANCA):c.189+12C>G SNV
Germline
Chr16:89815865 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA8253146 rs_753101174

2 SubmittersRCV000403652

NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) SNV
Germline
Chr16:89738667 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250581 rs_142784426

6 SubmittersRCV000342460RCV001094242RCV003477889RCV004975445

NM_000135.4(FANCA):c.3935-6T>C SNV
Germline
Chr16:89739559 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8250856 rs_368376237

7 SubmittersRCV000276761RCV001094403RCV001508799RCV001820953RCV003950093

NM_000135.4(FANCA):c.3138C>T (p.His1046=) SNV
Germline
Chr16:89749831 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251322 rs_150884376

7 SubmittersRCV001094409RCV000398509RCV003422277RCV004975447

NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) SNV
Germline
Chr16:89769946 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251735 rs_762439008

5 SubmittersRCV000350181RCV000765328

NM_000135.4(FANCA):c.2316+9C>T SNV
Germline
Chr16:89770157 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
not specified
Criteria Provided
Conflicting Classifications
CA10644645 rs_776301232

3 SubmittersRCV000388326RCV001458727RCV003151027

NM_000135.4(FANCA):c.1990A>G (p.Met664Val) SNV
Germline
Chr16:89773295 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251962 rs_748579719

3 SubmittersRCV000348439RCV001094415

NM_000135.4(FANCA):c.1901-9T>G SNV
Germline
Chr16:89773393 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA10644646 rs_886052486

2 SubmittersRCV000305138RCV002522899

NM_000135.4(FANCA):c.1007-7C>G SNV
Germline
Chr16:89792554 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8252565 rs_111271660

5 SubmittersRCV000302983RCV001094443RCV003912331

NM_000135.4(FANCA):c.793-9T>C SNV
Germline
Chr16:89799647 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252774 rs_757500718

6 SubmittersRCV000363325RCV001094265RCV000501039RCV003477893

NM_000135.4(FANCA):c.284-9G>C SNV
Germline
Chr16:89811080 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA10644649 rs_367672895

2 SubmittersRCV000341755RCV003635909

NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) SNV
Germline
Chr16:89816557 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8253263 rs_376307136

4 SubmittersRCV000306986RCV003477894

NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) SNV
Germline
Chr16:89739489 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8250843 rs_774576283

2 SubmittersRCV000399971RCV001424627

NM_000135.4(FANCA):c.3348+7G>T SNV
Germline
Chr16:89748652 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8251230 rs_185527578

8 SubmittersRCV000394021RCV000989671RCV000858420RCV003940263RCV001820954

NM_000135.4(FANCA):c.2958C>T (p.Asn986=) SNV
Germline
Chr16:89758600 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251423 rs_368953287

5 SubmittersRCV000272707RCV001094412RCV002480144

NM_000135.4(FANCA):c.1901-3C>A SNV
Germline
Chr16:89773387 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251972 rs_17226526

6 SubmittersRCV000259319RCV001094419

NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) SNV
Germline
Chr16:89778982 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
not specified
Criteria Provided
Conflicting Classifications
CA8252124 rs_529199293

5 SubmittersRCV000329509RCV001512541RCV001820957

NM_000135.4(FANCA):c.688G>A (p.Val230Ile) SNV
Germline
Chr16:89805301 Conflicting classifications of pathogenicity Fanconi anemia
FANCA-related disorder
Fanconi anemia complementation group A
not specified
Criteria Provided
Conflicting Classifications
CA8252857 rs_144560850

7 SubmittersRCV000274943RCV003922359RCV001094307RCV001820959

NM_000135.4(FANCA):c.577C>G (p.Leu193Val) SNV
Germline
Chr16:89808313 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252926 rs_141861208

7 SubmittersRCV000280680RCV000660417RCV001753780

NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) SNV
Germline
Chr16:89740807 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10649308 rs_886052480

3 SubmittersRCV000327839RCV002061214RCV004975446

NM_000135.4(FANCA):c.3766-14G>A SNV
Germline
Chr16:89740880 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8250969 rs_34476949

2 SubmittersRCV000283492RCV002056543

NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) SNV
Germline
Chr16:89745034 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251098 rs_147672303

11 SubmittersRCV000287104RCV000484383RCV001094249RCV003912330

NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) SNV
Germline
Chr16:89745054 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA10649310 rs_886052482

2 SubmittersRCV000335715RCV002056544

NM_000135.4(FANCA):c.2778+10C>T SNV
Germline
Chr16:89764880 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251569 rs_371786839

3 SubmittersRCV000324259RCV001256603RCV001094434

NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) SNV
Germline
Chr16:89767172 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Inborn genetic diseases
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10649312 rs_886052484

6 SubmittersRCV000375449RCV004975449RCV002522898RCV004791410

NM_000135.4(FANCA):c.1777-15C>G SNV
Germline
Chr16:89778865 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252077 rs_371919426

3 SubmittersRCV000265014RCV002522900

NM_000135.4(FANCA):c.1567-11C>A SNV
Germline
Chr16:89782929 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252246 rs_34353618

2 SubmittersRCV000270989RCV002056545

NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) SNV
Germline
Chr16:89810999 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253054 rs_751309143

6 SubmittersRCV000286700RCV002522903RCV001094364

NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) SNV
Germline
Chr16:89799620 Pathogenic Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA16041803 rs_372163487

8 SubmittersRCV000410151RCV001509537RCV001223227

NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) SNV
Germline
Chr16:89811060 Pathogenic Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA16041804 rs_1057516430

5 SubmittersRCV000409455RCV003126717RCV001865263

NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) SNV
Germline
Chr16:89815912 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8253157 rs_773159223

6 SubmittersRCV000409456RCV001245476

NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) SNV
Germline
Chr16:89758699 Conflicting classifications of pathogenicity not specified
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251450 rs_149112292

16 SubmittersRCV001821151RCV003902464RCV001120358RCV000431238RCV001080884

NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) SNV
Germline
Chr16:89783084 Likely pathogenic Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA16607150 rs_1057521855

2 SubmittersRCV000432541RCV004701475

NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) SNV
Germline
Chr16:89738943 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250692 rs_149851163

8 SubmittersRCV000459562RCV000779200RCV001557545

NM_000135.4(FANCA):c.4261-8T>G SNV
Germline
Chr16:89738716 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250601 rs_372268907

5 SubmittersRCV000470927RCV001821344RCV002261091

NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) SNV
Germline
Chr16:89746667 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251153 rs_143671872

16 SubmittersRCV000499924RCV000474793RCV001579530RCV000765324RCV003418176

NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) SNV
Germline
Chr16:89749812 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
not specified
Criteria Provided
Conflicting Classifications
CA8251319 rs_376103033

9 SubmittersRCV000472481RCV001509531RCV001276510RCV001821268

NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) SNV
Germline
Chr16:89773304 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA16615029 rs_1060501878

1 SubmittersRCV000475930

NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) SNV
Germline
Chr16:89778947 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8252114 rs_778093769

4 SubmittersRCV000476740RCV000765329RCV003418177

NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) SNV
Germline
Chr16:89749786 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251308 rs_1800346

10 SubmittersRCV000458962RCV001821345RCV001764459RCV001276506RCV003970325RCV004975545

NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) SNV
Germline
Chr16:89810978 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8253047 rs_139160837

11 SubmittersRCV000466659RCV000503748RCV001118714RCV001172102

NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) SNV
Germline
Chr16:89761950 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8251482 rs_755546887

9 SubmittersRCV000466964RCV000669024

NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) SNV
Germline
Chr16:89769909 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251729 rs_201152989

3 SubmittersRCV000458018RCV001274572

NM_000135.4(FANCA):c.1304G>A (p.Arg435His) SNV
Germline
Chr16:89791458 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16615049 rs_1060501879

5 SubmittersRCV000464366RCV001256354RCV004797814

NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) SNV
Germline
Chr16:89805304 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252858 rs_148419748

6 SubmittersRCV000468822RCV003477955RCV002496761

NM_000135.4(FANCA):c.377C>T (p.Thr126Met) SNV
Germline
Chr16:89810978 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8253048 rs_139160837

8 SubmittersRCV000464585RCV001276567RCV002526413RCV002264943RCV003902647

NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) SNV
Germline
Chr16:89738666 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250579 rs_74977201

6 SubmittersRCV000463871RCV001292767RCV002475905RCV003960075RCV002525658

NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) SNV
Germline
Chr16:89738917 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Microcephaly
Criteria Provided
Conflicting Classifications
CA8250683 rs_139478274

5 SubmittersRCV000458944RCV000765320RCV001252734

NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) SNV
Germline
Chr16:89742867 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251016 rs_545742908

3 SubmittersRCV000463994RCV002496760

NM_000135.4(FANCA):c.87G>A (p.Arg29=) SNV
Germline
Chr16:89815979 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8253181 rs_760787108

4 SubmittersRCV000457883RCV001120658RCV005426034RCV004975543

NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) SNV
Germline
Chr16:89816593 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253274 rs_757468756

4 SubmittersRCV000470449RCV003237862RCV005010356

NM_000135.4(FANCA):c.4260+1G>A SNV
Germline
Chr16:89738881 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615435 rs_1060501887

4 SubmittersRCV000672332RCV000460272RCV005001057

NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) SNV
Germline
Chr16:89740078 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250923 rs_142919010

7 SubmittersRCV000465004RCV001508800RCV003153618RCV004975520

NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) SNV
Germline
Chr16:89749870 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251332 rs_139289675

13 SubmittersRCV000469035RCV001573434RCV001274568RCV003424019

NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) SNV
Germline
Chr16:89764919 Pathogenic Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA16615452 rs_1060501880

5 SubmittersRCV000465485RCV001091061RCV003243136

NM_000135.4(FANCA):c.1827-1G>A SNV
Germline
Chr16:89775816 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8252011 rs_555449842

10 SubmittersRCV000471236RCV000667190

NM_000135.4(FANCA):c.709+5G>A SNV
Germline
Chr16:89805275 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8252848 rs_759877008

12 SubmittersRCV000474895RCV000673202RCV001821265

NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) SNV
Germline
Chr16:89744961 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251077 rs_149797103

9 SubmittersRCV000479566RCV000500885RCV000813304RCV003401525

NM_000135.4(FANCA):c.709+1G>C SNV
Germline
Chr16:89805279 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA16620313 rs_753211631

2 SubmittersRCV000484076RCV001223396

NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) SNV
Germline
Chr16:89765030 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA16621696 rs_762804216

3 SubmittersRCV000487984RCV001865499

NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) SNV
Germline
Chr16:89739183 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8250780 rs_753944130

4 SubmittersRCV000493395RCV001834601

NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) SNV
Germline
Chr16:89739517 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8250847 rs_182657062

9 SubmittersRCV000494388RCV000666624RCV001219227

NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) SNV
Germline
Chr16:89746615 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251139 rs_142833057

5 SubmittersRCV000503023RCV000630890RCV003478070

NM_000135.4(FANCA):c.2601+9A>T SNV
Germline
Chr16:89767132 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251668 rs_771837383

2 SubmittersRCV000502806RCV000868476

NM_000135.4(FANCA):c.2601+1G>T SNV
Germline
Chr16:89767140 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397440342 rs_1188581065

4 SubmittersRCV000502863RCV001851411

NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) SNV
Germline
Chr16:89769943 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397443878 rs_1555547474

4 SubmittersRCV000499975RCV001380594

NM_000135.4(FANCA):c.2222+7G>A SNV
Germline
Chr16:89770557 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251840 rs_374312736

4 SubmittersRCV000502652RCV000864671RCV001276548RCV003942632

NM_000135.4(FANCA):c.2151+1G>A SNV
Germline
Chr16:89771677 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397447830 rs_1555548428

1 SubmittersRCV000501439

NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) SNV
Germline
Chr16:89791422 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397463723 rs_149551759

4 SubmittersRCV000499830RCV001857096

NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) SNV
Germline
Chr16:89792506 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252551 rs_150290184

3 SubmittersRCV000503436RCV002481612RCV002524182

NM_000135.4(FANCA):c.1A>G (p.Met1Val) SNV
Germline
Chr16:89816615 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397484679 rs_772751654

9 SubmittersRCV000500370RCV001383377RCV004701568

NM_000135.4(FANCA):c.1226-2A>G SNV
Germline
Chr16:89791538 Pathogenic/Likely pathogenic not specified
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8252436 rs_773906241

8 SubmittersRCV000507098RCV000701341RCV000667573

NM_000135.4(FANCA):c.1776+1G>A SNV
Germline
Chr16:89778942 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8252113 rs_756140957

4 SubmittersRCV000523348RCV000685268RCV003464113

NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) SNV
Germline
Chr16:89739526 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250848 rs_374649848

5 SubmittersRCV000545703RCV000765321RCV002476091

NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) SNV
Germline
Chr16:89748691 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486253 rs_777825824

1 SubmittersRCV000536967

NM_000135.4(FANCA):c.1900+7T>A SNV
Germline
Chr16:89775735 Conflicting classifications of pathogenicity Fanconi anemia
not specified
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251983 rs_377401016

6 SubmittersRCV000557762RCV001821475RCV003960254RCV002490944RCV003326450

NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) SNV
Germline
Chr16:89795941 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397469937 rs_1447363475

6 SubmittersRCV000527193RCV000673548RCV005001074

NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) SNV
Germline
Chr16:89799178 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397472827 rs_1555566545

2 SubmittersRCV000546332RCV005338223

NM_000135.4(FANCA):c.874C>G (p.His292Asp) SNV
Germline
Chr16:89799185 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252711 rs_200220791

6 SubmittersRCV000532298RCV000764090RCV001797096

NM_000135.4(FANCA):c.4261-9C>G SNV
Germline
Chr16:89738717 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250602 rs_368506826

4 SubmittersRCV000559601RCV001115283RCV003478123

NM_000135.4(FANCA):c.3828+1G>C SNV
Germline
Chr16:89740803 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA397485124 rs_1432988639

4 SubmittersRCV000546890RCV001783028RCV003935400

NM_000135.4(FANCA):c.2856G>C (p.Gln952His) SNV
Germline
Chr16:89758702 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251452 rs_200093209

5 SubmittersRCV000555471RCV001821477RCV002254702

NM_000135.4(FANCA):c.2589C>A (p.Gly863=) SNV
Germline
Chr16:89767153 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251673 rs_72807571

7 SubmittersRCV000538744RCV001115462RCV001800737RCV003960255RCV004975621

NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) SNV
Germline
Chr16:89749884 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486730 rs_1555538740

1 SubmittersRCV000543183

NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) SNV
Germline
Chr16:89765010 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251602 rs_139002130

13 SubmittersRCV000542670RCV001120360RCV001562680RCV003409764

NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) SNV
Germline
Chr16:89775771 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251997 rs_146491000

7 SubmittersRCV000555138RCV002476088RCV002293448RCV004619317RCV004742487

NM_000135.4(FANCA):c.964C>T (p.His322Tyr) SNV
Germline
Chr16:89795948 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252610 rs_772768595

7 SubmittersRCV000548806RCV000674060RCV005001073

NM_000135.4(FANCA):c.2637C>T (p.Ala879=) SNV
Germline
Chr16:89765031 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251608 rs_149435806

6 SubmittersRCV000549123RCV001120361RCV003478119RCV004975622

NM_000135.4(FANCA):c.953G>T (p.Arg318Met) SNV
Germline
Chr16:89795959 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252614 rs_72552377

3 SubmittersRCV000560274RCV001120563

NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) SNV
Germline
Chr16:89808363 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252945 rs_35566151

3 SubmittersRCV000551260RCV001118712

NM_000135.4(FANCA):c.265C>T (p.His89Tyr) SNV
Germline
Chr16:89814538 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253102 rs_746125523

4 SubmittersRCV000552747RCV005000126RCV005018902

NM_000135.4(FANCA):c.186T>A (p.Leu62=) SNV
Germline
Chr16:89815880 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA497196724 rs_1555580352

2 SubmittersRCV000545000RCV005010487

NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) SNV
Germline
Chr16:89810802 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397480839 rs_539460201

2 SubmittersRCV000578451RCV001231124

NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) SNV
Germline
Chr16:89803273 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252812 rs_201992220

4 SubmittersRCV000593561RCV002483594RCV001243169

NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) SNV
Germline
Chr16:89782912 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252237 rs_755925068

6 SubmittersRCV000625425RCV001036418RCV004742539RCV004975716

NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) SNV
Germline
Chr16:89745004 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397485658 rs_1555536390

3 SubmittersRCV000630873RCV001256405

NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) SNV
Germline
Chr16:89749781 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397486523 rs_1166286386

4 SubmittersRCV000630824RCV001256513

NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) SNV
Germline
Chr16:89769951 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251738 rs_138248569

9 SubmittersRCV000630849RCV001821773RCV001271599RCV002461940

NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) SNV
Germline
Chr16:89770215 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251806 rs_137913973

7 SubmittersRCV000630862RCV001292817RCV004975720RCV003478349

NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) SNV
Germline
Chr16:89740078 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
FANCA-related disorder
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8250924 rs_142919010

9 SubmittersRCV000630946RCV002261136RCV002528848RCV004742542RCV001274554

NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) SNV
Germline
Chr16:89742832 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251008 rs_745665658

9 SubmittersRCV000630834RCV001121952RCV003935751RCV001821772RCV003478348

NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) SNV
Germline
Chr16:89742928 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251038 rs_200713354

7 SubmittersRCV000630847RCV001121953RCV003237964

NM_000135.4(FANCA):c.3514-4A>G SNV
Germline
Chr16:89745075 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251107 rs_149388130

5 SubmittersRCV000630983RCV001293880RCV001821781RCV003478351

NM_000135.4(FANCA):c.2029G>A (p.Val677Met) SNV
Germline
Chr16:89771800 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251928 rs_767396631

6 SubmittersRCV000630911RCV001756040RCV001271605

NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) SNV
Germline
Chr16:89773381 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251971 rs_142217479

7 SubmittersRCV000630927RCV001771851RCV001120168RCV003945583

NM_000135.4(FANCA):c.1143G>A (p.Thr381=) SNV
Germline
Chr16:89792009 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252499 rs_1800331

3 SubmittersRCV000631010RCV001120560RCV005338272

NM_000135.4(FANCA):c.189+7G>A SNV
Germline
Chr16:89815870 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8253148 rs_369985388

3 SubmittersRCV000631007RCV001120657RCV003892414

NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) SNV
Germline
Chr16:89761949 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8251481 rs_755922289

11 SubmittersRCV000630961RCV000666705RCV001569733

NM_000135.4(FANCA):c.4261-2A>C SNV
Germline
Chr16:89738710 Pathogenic Fanconi anemia complementation group A
Neuroblastoma
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286613931 rs_915983602

5 SubmittersRCV000656368RCV000656370RCV001855345

NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) SNV
Unknown
Chr16:89764940 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Neuroblastoma
No Assertion Criteria Provided
CA397438141 rs_1216426444

1 SubmittersRCV000656367RCV000656369

NM_000135.4(FANCA):c.1567-1G>T SNV
Germline
Chr16:89782919 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA397458038 rs_1464032361

1 SubmittersRCV000658759

NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) SNV
Germline
Chr16:89738944 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8250693 rs_745882980

10 SubmittersRCV000670597RCV000801328

NM_000135.4(FANCA):c.3935-1G>T SNV
Germline
Chr16:89739554 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397484878 rs_1555533693

2 SubmittersRCV000671768RCV001383939

NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) SNV
Germline
Chr16:89738895 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286614275 rs_940187828

3 SubmittersRCV000665549RCV001229363

NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) SNV
Germline
Chr16:89740015 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8250914 rs_753700179

8 SubmittersRCV000672199RCV001222479

NM_000135.4(FANCA):c.3934+2T>C SNV
Germline
Chr16:89739992 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8250909 rs_771775516

6 SubmittersRCV000669249RCV003767972RCV004702288

NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) SNV
Germline
Chr16:89740044 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA286617817 rs_986710868

3 SubmittersRCV000674049RCV002532156

NM_000135.4(FANCA):c.3626+1G>T SNV
Unknown
Chr16:89744958 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485566 rs_34885858

1 SubmittersRCV000668012

NM_000135.4(FANCA):c.3348+1G>A SNV
Germline
Chr16:89748658 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8251231 rs_751266148

5 SubmittersRCV000668641RCV001246767RCV001270082RCV003420183

NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) SNV
Germline
Chr16:89749805 Conflicting classifications of pathogenicity Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486564 rs_1429943036

2 SubmittersRCV000672291

NM_000135.4(FANCA):c.2738A>C (p.His913Pro) SNV
Germline
Chr16:89764930 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397438104 rs_1302083447

7 SubmittersRCV000671893RCV000796523RCV001816676

NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) SNV
Germline
Chr16:89744993 Pathogenic/Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485642 rs_1381684916

2 SubmittersRCV000671105

NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) SNV
Unknown
Chr16:89746857 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486097 rs_1439817346

1 SubmittersRCV000673853

NM_000135.4(FANCA):c.2982-1G>C SNV
Germline
Chr16:89752223 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397427604 rs_1555540076

4 SubmittersRCV000669707RCV000688900

NM_000135.4(FANCA):c.2981+1G>A SNV
Unknown
Chr16:89758576 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397430866 rs_1555542860

2 SubmittersRCV000668546

NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) SNV
Germline
Chr16:89770179 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA397444996 rs_1490352414

5 SubmittersRCV000672136RCV001797781

NM_000135.4(FANCA):c.2222+1G>C SNV
Germline
Chr16:89770563 Pathogenic/Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397446969 rs_775388912

2 SubmittersRCV000670106

NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) SNV
Germline
Chr16:89758688 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286549223 rs_927630499

5 SubmittersRCV000667724RCV002530721

NM_000135.4(FANCA):c.1715+1G>T SNV
Germline
Chr16:89779868 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397455763 rs_1555552506

4 SubmittersRCV000673486RCV003768006

NM_000135.4(FANCA):c.2853-2A>C SNV
Germline
Chr16:89758707 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA286549237 rs_947311062

6 SubmittersRCV000673183RCV001240902RCV001816680

NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) SNV
Germline
Chr16:89792516 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252555 rs_750257902

4 SubmittersRCV000670612RCV003478394RCV002532102

NM_000135.4(FANCA):c.2778+83C>G SNV
Germline
Chr16:89764807 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251546 rs_750997715

5 SubmittersRCV000667523RCV002532064

NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) SNV
Germline
Chr16:89767213 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397440787 rs_1247378731

5 SubmittersRCV000672395RCV001384720

NM_000135.4(FANCA):c.2151+2T>C SNV
Germline
Chr16:89771676 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286566397 rs_937874201

4 SubmittersRCV000670390RCV001861792

NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) SNV
Germline
Chr16:89771722 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397448200 rs_1555548512

4 SubmittersRCV000667754RCV000822096

NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) SNV
Germline
Chr16:89771778 Pathogenic/Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA8251924 rs_762526878

2 SubmittersRCV000672786

NM_000135.4(FANCA):c.2015-1G>A SNV
Unknown
Chr16:89771815 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397448771 rs_1555548632

1 SubmittersRCV000672065

NM_000135.4(FANCA):c.1901-1G>A SNV
Germline
Chr16:89773385 Likely pathogenic Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Single Submitter
CA397450471 rs_1485075318

2 SubmittersRCV000669366RCV003237984

NM_000135.4(FANCA):c.597-1G>C SNV
Germline
Chr16:89805393 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8252884 rs_147945881

5 SubmittersRCV000670450RCV001242661

NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) SNV
Germline
Chr16:89778948 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397454728 rs_753980264

6 SubmittersRCV000674201RCV001069523RCV003222094

NM_000135.4(FANCA):c.1475A>G (p.His492Arg) SNV
Germline
Chr16:89783098 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397458290 rs_925457555

3 SubmittersRCV000669501

NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) SNV
Germline
Chr16:89808341 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397479336 rs_758528624

4 SubmittersRCV000669575RCV001584542

NM_000135.4(FANCA):c.1359+1G>C SNV
Germline
Chr16:89791402 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397463556 rs_1555561294

4 SubmittersRCV000672477RCV002532125

NM_000135.4(FANCA):c.522+1G>T SNV
Germline
Chr16:89810706 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397480630 rs_1365019056

2 SubmittersRCV000674016RCV003523013

NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) SNV
Germline
Chr16:89791458 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397463962 rs_1060501879

5 SubmittersRCV000672654RCV001378203

NM_000135.4(FANCA):c.190-2A>T SNV
Germline
Chr16:89814615 Pathogenic Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8253122 rs_183350210

4 SubmittersRCV000670932RCV001256211RCV001868249

NM_000135.4(FANCA):c.80-1G>T SNV
Germline
Chr16:89815987 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397483824 rs_751076878

2 SubmittersRCV000669616RCV005091943

NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) SNV
Germline
Chr16:89791495 Pathogenic Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Single Submitter
CA8252420 rs_774026652

3 SubmittersRCV000674566RCV001683628

NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) SNV
Germline
Chr16:89816551 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8253262 rs_761341952

16 SubmittersRCV000665314RCV001509539RCV000812393RCV004742561

NM_000135.4(FANCA):c.3G>T (p.Met1Ile) SNV
Unknown
Chr16:89816613 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484665 rs_1555581729

1 SubmittersRCV000671694

NM_000135.4(FANCA):c.793-3C>G SNV
Germline
Chr16:89799641 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA8252773 rs_749688050

3 SubmittersRCV000670676RCV001204945

NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) SNV
Germline
Chr16:89803333 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397476449 rs_1184639006

4 SubmittersRCV000666393RCV002530683

NM_000135.4(FANCA):c.523-1G>T SNV
Germline
Chr16:89808368 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Single Submitter
CA397479486 rs_1477653630

4 SubmittersRCV000666294RCV001379949RCV003151132

NM_000135.4(FANCA):c.189+1G>A SNV
Germline
Chr16:89815876 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286612153 rs_891323617

6 SubmittersRCV000674205RCV000996416RCV001377209

NM_000135.4(FANCA):c.2T>C (p.Met1Thr) SNV
Germline
Chr16:89816614 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8253279 rs_769479800

12 SubmittersRCV000669920RCV000699054RCV001509540

NM_000135.4(FANCA):c.2T>A (p.Met1Lys) SNV
Germline
Chr16:89816614 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397484674 rs_769479800

3 SubmittersRCV000672220RCV005240441

NM_000135.4(FANCA):c.1A>T (p.Met1Leu) SNV
Germline
Chr16:89816615 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397484677 rs_772751654

5 SubmittersRCV000669511RCV001387726

NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) SNV
Germline
Chr16:89739225 Conflicting classifications of pathogenicity Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484514 rs_1555533313

2 SubmittersRCV000669932

NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) SNV
Germline
Chr16:89740044 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397485002 rs_986710868

4 SubmittersRCV000674926RCV002531365

NM_000135.4(FANCA):c.3828+1G>A SNV
Germline
Chr16:89740803 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397485123 rs_1432988639

3 SubmittersRCV000671445RCV001855559

NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) SNV
Germline
Chr16:89749730 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397486419 rs_1555538571

4 SubmittersRCV000668167RCV004597855

NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) SNV
Germline
Chr16:89761961 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8251487 rs_745568821

6 SubmittersRCV000674491RCV000817200RCV003163071

NM_000135.4(FANCA):c.2778+2T>C SNV
Germline
Chr16:89764888 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397437779 rs_1458001028

4 SubmittersRCV000671287RCV001235351RCV004812349

NM_000135.4(FANCA):c.2602-2A>T SNV
Germline
Chr16:89765068 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397438951 rs_1555545592

3 SubmittersRCV000671414RCV002531281

NM_000135.4(FANCA):c.894-2A>G SNV
Germline
Chr16:89796020 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286597120 rs_976556567

5 SubmittersRCV000673435RCV002255501

NM_000135.4(FANCA):c.827-1G>C SNV
Unknown
Chr16:89799233 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397473213 rs_753728435

1 SubmittersRCV000671987

NM_000135.4(FANCA):c.710-1G>C SNV
Unknown
Chr16:89803342 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397476535 rs_1388128874

2 SubmittersRCV000673656

NM_000135.4(FANCA):c.523-2A>G SNV
Germline
Chr16:89808369 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397479497 rs_746518509

2 SubmittersRCV000671161RCV001379453

NM_000135.4(FANCA):c.283+1G>T SNV
Germline
Chr16:89814519 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397482410 rs_1232171121

3 SubmittersRCV000671233RCV000806911

NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) SNV
Germline
Chr16:89815966 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8253174 rs_772858764

5 SubmittersRCV000668648RCV001211107

NM_000135.4(FANCA):c.79+1G>C SNV
Unknown
Chr16:89816536 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484370 rs_1483028018

1 SubmittersRCV000672909

NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) SNV
Germline
Chr16:89816605 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397484637 rs_1484087361

7 SubmittersRCV000666866RCV001387348

NM_000135.4(FANCA):c.1A>C (p.Met1Leu) SNV
Germline
Chr16:89816615 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8253280 rs_772751654

6 SubmittersRCV000668991RCV001861771RCV004721540

NM_000135.4(FANCA):c.4260+2T>A SNV
Unknown
Chr16:89738880 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397483175 rs_1555532943

1 SubmittersRCV000673192

NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) SNV
Germline
Chr16:89738910 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Microcephaly
Fanconi anemia
not specified
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA8250681 rs_201494304

7 SubmittersRCV000669832RCV001252842RCV001246136RCV003155269RCV003153795

NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) SNV
Germline
Chr16:89748691 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8251236 rs_777825824

6 SubmittersRCV000671214RCV001348026RCV004742564

NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) SNV
Germline
Chr16:89749806 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8251314 rs_753063086

9 SubmittersRCV000670742RCV000809264RCV003478395RCV003892520

NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) SNV
Germline
Chr16:89765029 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8251606 rs_372254398

14 SubmittersRCV000671284RCV000803258RCV004742565RCV003478396

NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) SNV
Germline
Chr16:89767208 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397440749 rs_1173704265

5 SubmittersRCV000671953RCV001047569RCV001816677

NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) SNV
Germline
Chr16:89771803 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397448720 rs_1448463647

5 SubmittersRCV000674289RCV001055356

NM_000135.4(FANCA):c.1901-2A>G SNV
Germline
Chr16:89773386 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397450478 rs_1555549535

3 SubmittersRCV000669408RCV001868230

NM_000135.4(FANCA):c.1777-1G>C SNV
Germline
Chr16:89778851 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8252071 rs_755104393

6 SubmittersRCV000665345RCV001054905

NM_000135.4(FANCA):c.1776+7A>G SNV
Germline
Chr16:89778936 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA658823882 rs_1555552070

3 SubmittersRCV000671565RCV001756137RCV003523012

NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) SNV
Germline
Chr16:89783063 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA286579145 rs_200291237

5 SubmittersRCV000665582RCV001041382

NM_000135.4(FANCA):c.1470+1G>A SNV
Unknown
Chr16:89784853 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397459560 rs_1555556175

1 SubmittersRCV000667155

NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) SNV
Germline
Chr16:89784946 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397460165 rs_1438828232

5 SubmittersRCV000667535RCV001868216

NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) SNV
Germline
Chr16:89791459 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8252408 rs_148473140

7 SubmittersRCV000671453RCV000805493RCV003478397

NM_000135.4(FANCA):c.1006+1G>T SNV
Germline
Chr16:89795905 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397469751 rs_1555564436

2 SubmittersRCV000672458RCV001203018

NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) SNV
Germline
Chr16:89799203 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA397473015 rs_1291524243

10 SubmittersRCV000668057RCV000813603RCV001092317RCV004742563

NM_000135.4(FANCA):c.596+2T>C SNV
Germline
Chr16:89808292 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397479098 rs_1555573118

4 SubmittersRCV000674412RCV001861842

NM_000135.4(FANCA):c.190-1G>T SNV
Germline
Chr16:89814614 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397482661 rs_765277254

3 SubmittersRCV000664959RCV001855434

NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) SNV
Germline
Chr16:89815903 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397483293 rs_1555580427

3 SubmittersRCV000665360RCV001387347

NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) SNV
Germline
Chr16:89738644 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250573 rs_144171225

5 SubmittersRCV000692969RCV002477566RCV003392528RCV004972864

NM_000135.4(FANCA):c.3408+1G>C SNV
Germline
Chr16:89746830 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486036 rs_1567601557

1 SubmittersRCV000695127

NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) SNV
Germline
Chr16:89742921 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251036 rs_199601218

7 SubmittersRCV000685297RCV001274526RCV001816695RCV003237986

NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) SNV
Germline
Chr16:89752172 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251373 rs_200022826

5 SubmittersRCV000699108RCV001816722RCV001276512RCV003148833

NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) SNV
Germline
Chr16:89740080 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250926 rs_146975341

6 SubmittersRCV000703875RCV002534419RCV001274520RCV004997206

NM_000135.4(FANCA):c.2904G>A (p.Ser968=) SNV
Germline
Chr16:89758654 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251442 rs_568354015

4 SubmittersRCV000705864RCV001274569RCV003478446RCV004972900

NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) SNV
Germline
Chr16:89744999 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397485653 rs_1390620949

3 SubmittersRCV000723238RCV001868923RCV003465654

NM_000135.4(FANCA):c.793-1G>A SNV
Germline
Chr16:89799639 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA397473717 rs_1567642367

1 SubmittersRCV000732477

NM_000135.4(FANCA):c.2317-2A>G SNV
Germline
Chr16:89770026 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397444716 rs_1567618264

1 SubmittersRCV000760152

NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) SNV
Germline
Chr16:89749899 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397486762 rs_1567603987

2 SubmittersRCV000761272RCV004027178

NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) SNV
Germline
Chr16:89791420 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA397463717 rs_1567635573

2 SubmittersRCV000761270RCV002533863

NM_000135.4(FANCA):c.3349-1G>A SNV
Germline
Chr16:89746891 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8251201 rs_769862233

4 SubmittersRCV000761273RCV001043409

NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) SNV
Germline
Chr16:89773306 Pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397449752 rs_1567621042

3 SubmittersRCV000761289

NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) SNV
Germline
Chr16:89744972 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397485600 rs_1313006784

2 SubmittersRCV000761971RCV001386218

NM_000135.4(FANCA):c.2778+1G>A SNV
Germline
Chr16:89764889 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397437786 rs_140180549

12 SubmittersRCV000786986RCV000811488RCV002269312

NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) SNV
Germline
Chr16:89738898 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8250674 rs_201658945

7 SubmittersRCV000803393RCV001274509RCV003478502RCV004742643

NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) SNV
Germline
Chr16:89739527 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA286617246 rs_755375493

4 SubmittersRCV000814285RCV001274551RCV005338387

NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) SNV
Germline
Chr16:89742865 Conflicting classifications of pathogenicity Fanconi anemia
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA397485411 rs_1598063117

2 SubmittersRCV000819591RCV003153864

NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) SNV
Germline
Chr16:89745035 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251100 rs_201492940

5 SubmittersRCV000796532RCV001276495RCV001816853RCV004997329

NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) SNV
Germline
Chr16:89745064 Pathogenic Fanconi anemia
Condition: not provided
Criteria Provided
Single Submitter
CA397485783 rs_1598067532

2 SubmittersRCV000823169RCV003325309

NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) SNV
Germline
Chr16:89758609 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA8251426 rs_188695241

7 SubmittersRCV000792471RCV001276515RCV003478489RCV001816841

NM_000135.4(FANCA):c.2851C>A (p.Arg951=) SNV
Germline
Chr16:89761950 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA497182543 rs_755546887

3 SubmittersRCV000799747RCV004997341RCV005338362

NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) SNV
Germline
Chr16:89770168 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8251797 rs_761725308

3 SubmittersRCV000813088RCV001256264

NM_000135.4(FANCA):c.2248G>A (p.Val750Met) SNV
Germline
Chr16:89770234 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251816 rs_747723074

4 SubmittersRCV000807024RCV005021222RCV003478510

NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) SNV
Germline
Chr16:89771749 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA8251920 rs_201589909

7 SubmittersRCV000801692RCV001271603RCV003334022RCV003153842

NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) SNV
Germline
Chr16:89784865 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252333 rs_143083764

3 SubmittersRCV000808001RCV003480848

NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) SNV
Germline
Chr16:89791481 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252415 rs_747322973

3 SubmittersRCV000807004RCV001274156RCV003478509

NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) SNV
Germline
Chr16:89791994 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397466183 rs_752864343

2 SubmittersRCV000801557RCV003461133

NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) SNV
Germline
Chr16:89803261 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397475854 rs_1353992080

3 SubmittersRCV000803831RCV001256229

NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) SNV
Germline
Chr16:89808342 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397479347 rs_1598184500

2 SubmittersRCV000803115

NM_000135.4(FANCA):c.361G>A (p.Val121Met) SNV
Germline
Chr16:89810994 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253053 rs_780035612

3 SubmittersRCV000816187RCV005012361

NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) SNV
Germline
Chr16:89814545 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397482469 rs_1452688134

5 SubmittersRCV001256218RCV000799851

NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) SNV
Germline
Chr16:89814603 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253117 rs_200698961

5 SubmittersRCV000791641RCV001759486RCV001274662

NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) SNV
Germline
Chr16:89815950 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8253167 rs_151089298

5 SubmittersRCV000803891RCV001276569RCV004972973

NM_000135.4(FANCA):c.1900+1G>T SNV
Germline
Chr16:89775741 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397451756 rs_1598120768

2 SubmittersRCV000809003RCV003467430

NM_000135.4(FANCA):c.426+2T>G SNV
Germline
Chr16:89810927 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397480848 rs_1598190568

2 SubmittersRCV000801912RCV001256438

NM_000135.4(FANCA):c.2317-1G>T SNV
Germline
Chr16:89770025 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397444704 rs_1230207719

2 SubmittersRCV000811635RCV004569675

NM_000135.4(FANCA):c.2852+2T>G SNV
Germline
Chr16:89761947 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397433081 rs_766875860

1 SubmittersRCV000798008

NM_000135.4(FANCA):c.2014+1G>C SNV
Germline
Chr16:89773270 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397449451 rs_1598116164

5 SubmittersRCV000853504RCV001241985RCV003148887

NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) SNV
Germline
Chr16:89740831 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250961 rs_143772894

8 SubmittersRCV000861812RCV001274555RCV002478951RCV003928338RCV004973032

NM_000135.4(FANCA):c.2015-4G>T SNV
Germline
Chr16:89771818 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251936 rs_373954227

3 SubmittersRCV000862721RCV001118625

NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) SNV
Germline
Chr16:89778985 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252125 rs_762647468

5 SubmittersRCV000870464RCV001816998RCV002495295RCV003478547

NM_000135.4(FANCA):c.1632C>A (p.His544Gln) SNV
Germline
Chr16:89779952 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252186 rs_553129361

4 SubmittersRCV000870231RCV001115562RCV002539952

NM_000135.4(FANCA):c.1413C>T (p.Val471=) SNV
Germline
Chr16:89784911 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252341 rs_201561753

5 SubmittersRCV000866653RCV001116989RCV003948119RCV004973068

NM_000135.4(FANCA):c.837C>T (p.Asp279=) SNV
Germline
Chr16:89799222 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252724 rs_752311383

6 SubmittersRCV000866096RCV001115653RCV003424395RCV004973063

NM_000135.4(FANCA):c.3626+7G>A SNV
Germline
Chr16:89744952 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA286623531 rs_933657325

2 SubmittersRCV000868485RCV001121954

NM_000135.4(FANCA):c.3267C>T (p.Val1089=) SNV
Germline
Chr16:89748740 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA286625351 rs_994416299

3 SubmittersRCV000873449RCV001118526RCV004973113

NM_000135.4(FANCA):c.402T>C (p.Pro134=) SNV
Germline
Chr16:89810953 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8253034 rs_745666586

4 SubmittersRCV000874197RCV001118713RCV005338438

NM_000135.4(FANCA):c.522+9G>C SNV
Germline
Chr16:89810698 Conflicting classifications of pathogenicity Fanconi anemia
not specified
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8252986 rs_113051956

3 SubmittersRCV000872155RCV001817018RCV003930394

NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) SNV
Germline
Chr16:89738943 Likely pathogenic Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397483587 rs_149851163

3 SubmittersRCV000989668RCV001256421RCV001858712

NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) SNV
Unknown
Chr16:89814528 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397482432 rs_1183559927

1 SubmittersRCV000989675

NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) SNV
Germline
Chr16:89739215 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA8250793 rs_745688750

2 SubmittersRCV001056395

NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) SNV
Germline
Chr16:89749776 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251303 rs_140124051

4 SubmittersRCV001043224RCV002481901RCV003478673

NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) SNV
Germline
Chr16:89761994 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8251497 rs_766643461

5 SubmittersRCV001066000RCV001256277RCV002274132

NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) SNV
Germline
Chr16:89765027 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397438801 rs_2039078843

5 SubmittersRCV001067317RCV001256594

NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter) SNV
Germline
Chr16:89765030 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA8251607 rs_762804216

3 SubmittersRCV001038114RCV001256503RCV001293873

NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) SNV
Germline
Chr16:89773286 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA397449566 rs_147300317

4 SubmittersRCV001070981RCV003478690RCV005021424

NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) SNV
Germline
Chr16:89778831 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252067 rs_562319781

2 SubmittersRCV001051230RCV002497402

NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) SNV
Germline
Chr16:89778963 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252118 rs_201212806

6 SubmittersRCV001053106RCV001120470

NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter) SNV
Germline
Chr16:89784891 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397459793 rs_1432415523

1 SubmittersRCV001071452

NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter) SNV
Germline
Chr16:89791444 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397463885 rs_2040073991

2 SubmittersRCV001037568RCV005021347

NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) SNV
Germline
Chr16:89792065 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252510 rs_531100141

3 SubmittersRCV001051272RCV002481962

NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) SNV
Germline
Chr16:89792476 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252543 rs_375895456

3 SubmittersRCV001052881RCV003478679

NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) SNV
Germline
Chr16:89792527 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8252560 rs_755018069

4 SubmittersRCV001063647RCV001256568

NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) SNV
Germline
Chr16:89795968 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252618 rs_764121307

4 SubmittersRCV001035133RCV002481848RCV005338502

NM_000135.4(FANCA):c.913C>T (p.His305Tyr) SNV
Germline
Chr16:89795999 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252632 rs_774054025

3 SubmittersRCV001046595RCV004973284

NM_000135.4(FANCA):c.664G>T (p.Glu222Ter) SNV
Germline
Chr16:89805325 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397477913 rs_2040599267

2 SubmittersRCV001044309RCV005055149

NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) SNV
Germline
Chr16:89810792 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8253002 rs_141367100

7 SubmittersRCV001050638RCV001331009RCV002479313

NM_000135.4(FANCA):c.418G>T (p.Glu140Ter) SNV
Germline
Chr16:89810937 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397480871 rs_2040853528

1 SubmittersRCV001044967

NM_000135.4(FANCA):c.207T>A (p.Cys69Ter) SNV
Germline
Chr16:89814596 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397482589 rs_941660593

1 SubmittersRCV001057513

NM_000135.4(FANCA):c.91A>T (p.Lys31Ter) SNV
Germline
Chr16:89815975 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397483745 rs_2041101553

1 SubmittersRCV001052431

NM_000135.4(FANCA):c.68C>G (p.Ala23Gly) SNV
Germline
Chr16:89816548 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397484412 rs_776297241

2 SubmittersRCV001062373RCV002555811

NM_000135.4(FANCA):c.4261-2A>G SNV
Germline
Chr16:89738710 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397483173 rs_915983602

4 SubmittersRCV001071454RCV001256425

NM_000135.4(FANCA):c.4260+6G>T SNV
Germline
Chr16:89738876 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250664 rs_374793201

4 SubmittersRCV001050409RCV002479310RCV005428065

NM_000135.4(FANCA):c.3935-1G>A SNV
Germline
Chr16:89739554 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484880 rs_1555533693

2 SubmittersRCV001036272

NM_000135.4(FANCA):c.3626+1G>C SNV
Germline
Chr16:89744958 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA286623538 rs_34885858

1 SubmittersRCV001057714

NM_000135.4(FANCA):c.793-1G>C SNV
Germline
Chr16:89799639 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397473712 rs_1567642367

1 SubmittersRCV001036122

NM_000135.4(FANCA):c.4168-2A>G SNV
Germline
Chr16:89738976 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397483860 rs_1220672299

4 SubmittersRCV001071425RCV001256418

NM_000135.4(FANCA):c.3240-1G>A SNV
Germline
Chr16:89748768 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486406 rs_2038478071

1 SubmittersRCV001051366

NM_000135.4(FANCA):c.710-5T>C SNV
Germline
Chr16:89803346 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA916081863 rs_2040523640

3 SubmittersRCV001256223RCV001052274

NM_000135.4(FANCA):c.1826+2T>A SNV
Germline
Chr16:89778799 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397454265 rs_2039603867

1 SubmittersRCV001068973

NM_000135.4(FANCA):c.79+1G>A SNV
Germline
Chr16:89816536 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484371 rs_1483028018

1 SubmittersRCV001053503

NM_000135.4(FANCA):c.893+5G>C SNV
Germline
Chr16:89799161 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA397472697 rs_2040352785

1 SubmittersRCV001091064

NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) SNV
Germline
Chr16:89738684 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250589 rs_748856769

6 SubmittersRCV001115282RCV001207580RCV002480486

NM_000135.4(FANCA):c.4128T>C (p.Val1376=) SNV
Germline
Chr16:89739172 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA497379278 rs_1209384219

2 SubmittersRCV001115285RCV001399560

NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) SNV
Germline
Chr16:89739244 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA497379323 rs_2062057880

3 SubmittersRCV001118441RCV002556516RCV005562571

NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) SNV
Germline
Chr16:89740085 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8250929 rs_768380959

3 SubmittersRCV001119966RCV001428668

NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) SNV
Germline
Chr16:89745060 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251104 rs_765106818

4 SubmittersRCV001115381RCV001442079RCV003478700RCV004978026

NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) SNV
Germline
Chr16:89746668 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251154 rs_146062039

4 SubmittersRCV001118523RCV001506640RCV005340643

NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) SNV
Germline
Chr16:89748733 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251245 rs_772828870

5 SubmittersRCV001118525RCV001240295RCV004978029

NM_000135.4(FANCA):c.4010+12C>T SNV
Germline
Chr16:89739466 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA624454448 rs_1445940471

2 SubmittersRCV001118444RCV003635942

NM_000135.4(FANCA):c.2152-13T>C SNV
Germline
Chr16:89770647 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251866 rs_752105563

2 SubmittersRCV001118624RCV002069921

NM_000135.4(FANCA):c.1471-10C>G SNV
Germline
Chr16:89783112 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252299 rs_368356709

2 SubmittersRCV001116988RCV002069890

NM_000135.4(FANCA):c.1226-12G>C SNV
Germline
Chr16:89791548 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252440 rs_36011345

2 SubmittersRCV001120262RCV002069955

NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) SNV
Germline
Chr16:89815938 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397483474 rs_1158456786

2 SubmittersRCV001873582RCV001255877

NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) SNV
Germline
Chr16:89742900 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Premature ovarian failure
Criteria Provided
Conflicting Classifications
CA8251027 rs_374537936

5 SubmittersRCV001246139RCV001751356RCV001824931RCV001270236

NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter) SNV
Germline
Chr16:89745031 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA8251096 rs_770393751

1 SubmittersRCV001224011

NM_000135.4(FANCA):c.667G>A (p.Ala223Thr) SNV
Germline
Chr16:89805322 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252862 rs_771195871

2 SubmittersRCV001216649RCV004978123

NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter) SNV
Germline
Chr16:89764958 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397438191 rs_2039076227

1 SubmittersRCV001204408

NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) SNV
Germline
Chr16:89765006 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251600 rs_774863156

5 SubmittersRCV001204506RCV004978097RCV002480666RCV003478731

NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser) SNV
Germline
Chr16:89769904 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397443422 rs_2039263207

2 SubmittersRCV001206646RCV005550170

NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) SNV
Germline
Chr16:89779939 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8252182 rs_779745863

5 SubmittersRCV001205456RCV001256252RCV003393883

NM_000135.4(FANCA):c.2T>G (p.Met1Arg) SNV
Germline
Chr16:89816614 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397484671 rs_769479800

2 SubmittersRCV001202859RCV001256436

NM_000135.4(FANCA):c.3627-1G>C SNV
Germline
Chr16:89742939 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485558 rs_2062172440

1 SubmittersRCV001213212

NM_000135.4(FANCA):c.3513+1G>A SNV
Germline
Chr16:89746583 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397485816 rs_1188082371

2 SubmittersRCV001215793RCV003462732

NM_000135.4(FANCA):c.1470+2T>C SNV
Germline
Chr16:89784852 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA397459553 rs_2039844134

5 SubmittersRCV001215768RCV002497735RCV004726975

NM_000135.4(FANCA):c.284-1G>C SNV
Germline
Chr16:89811072 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397481123 rs_781216924

1 SubmittersRCV001222540

NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) SNV
Germline
Chr16:89779950 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252184 rs_200922390

4 SubmittersRCV001225538RCV001563817

NM_000135.4(FANCA):c.70G>T (p.Glu24Ter) SNV
Germline
Chr16:89816546 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484403 rs_1311396994

1 SubmittersRCV001234856

NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) SNV
Germline
Chr16:89738669 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250583 rs_374984587

6 SubmittersRCV001245328RCV001578976RCV004998769

NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln) SNV
Germline
Chr16:89742811 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397485296 rs_766875357

2 SubmittersRCV001247381RCV005340730

NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) SNV
Germline
Chr16:89745029 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251095 rs_748713183

6 SubmittersRCV001244123RCV002480822RCV003230651RCV004692312

NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) SNV
Germline
Chr16:89767187 Pathogenic Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397440586 rs_761469030

4 SubmittersRCV001246892RCV003117864RCV001780186

NM_000135.4(FANCA):c.2009G>A (p.Arg670His) SNV
Germline
Chr16:89773276 Conflicting classifications of pathogenicity FANCA-related disorder
Inborn genetic diseases
Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA286568108 rs_537923341

5 SubmittersRCV004743347RCV004978182RCV001330799RCV001239057

NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) SNV
Germline
Chr16:89773321 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA397449925 rs_1306842168

5 SubmittersRCV001243575RCV003478751RCV002480819RCV004743356

NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) SNV
Germline
Chr16:89803314 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252822 rs_555519520

3 SubmittersRCV001243722RCV002504349

NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) SNV
Germline
Chr16:89805385 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252880 rs_779131886

3 SubmittersRCV001246535RCV005340727

NM_000135.4(FANCA):c.39G>C (p.Gln13His) SNV
Germline
Chr16:89816577 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397484523 rs_1486155993

3 SubmittersRCV001246397RCV004978207

NM_000135.4(FANCA):c.3765+2C>T SNV
Germline
Chr16:89742798 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8250996 rs_776827467

2 SubmittersRCV001237762RCV003469445

NM_000135.4(FANCA):c.1084-1G>A SNV
Germline
Chr16:89792069 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397466436 rs_2040094761

1 SubmittersRCV001232390

NM_000135.4(FANCA):c.3349-2A>G SNV
Germline
Chr16:89746892 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397486170 rs_2038409874

2 SubmittersRCV001239097RCV001780176

NM_000135.4(FANCA):c.1006+4G>C SNV
Germline
Chr16:89795902 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8252596 rs_201771215

4 SubmittersRCV001246541RCV003478754

NM_000135.4(FANCA):c.4261-3C>G SNV
Germline
Chr16:89738711 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA624454243 rs_765478990

1 SubmittersRCV001256424

NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro) SNV
Germline
Chr16:89738947 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA286614345 rs_749574677

1 SubmittersRCV001256420

NM_000135.4(FANCA):c.4168-1G>C SNV
Germline
Chr16:89738975 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397483857 rs_2062047006

1 SubmittersRCV001256419

NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) SNV
Germline
Chr16:89739170 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8250777 rs_199599393

4 SubmittersRCV001256416RCV001844280

NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile) SNV
Germline
Chr16:89739220 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484490 rs_1555533300

1 SubmittersRCV001256309

NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro) SNV
Germline
Chr16:89739231 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484536 rs_1456500627

1 SubmittersRCV001256308

NM_000135.4(FANCA):c.4010+2T>C SNV
Germline
Chr16:89739476 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397484728 rs_2062067746

4 SubmittersRCV001256304RCV003523083RCV002250738

NM_000135.4(FANCA):c.4010+1G>A SNV
Germline
Chr16:89739477 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397484732 rs_2062067810

2 SubmittersRCV001256302

NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly) SNV
Germline
Chr16:89739479 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484737 rs_1268944859

1 SubmittersRCV001256299

NM_000135.4(FANCA):c.3973G>C (p.Asp1325His) SNV
Germline
Chr16:89739515 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484810 rs_2062069547

1 SubmittersRCV001256629

NM_000135.4(FANCA):c.3934+1G>A SNV
Germline
Chr16:89739993 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397484888 rs_2062087795

2 SubmittersRCV003635954RCV001256627

NM_000135.4(FANCA):c.3829-1G>C SNV
Germline
Chr16:89740100 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485115 rs_2062090760

1 SubmittersRCV001256526

NM_000135.4(FANCA):c.3828+1G>T SNV
Germline
Chr16:89740803 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397485125 rs_1432988639

4 SubmittersRCV005094188RCV001256524

NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu) SNV
Germline
Chr16:89740846 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485212 rs_2062115605

1 SubmittersRCV001256523

NM_000135.4(FANCA):c.3766-2A>G SNV
Germline
Chr16:89740868 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397485263 rs_1219402916

3 SubmittersRCV001256519RCV003635950

NM_000135.4(FANCA):c.3765+1G>T SNV
Germline
Chr16:89742799 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485269 rs_2062169124

1 SubmittersRCV001256518

NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter) SNV
Germline
Chr16:89742805 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485281 rs_375700263

1 SubmittersRCV001256516

NM_000135.4(FANCA):c.3627-1G>A SNV
Germline
Chr16:89742939 Pathogenic/Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397485556 rs_2062172440

3 SubmittersRCV001256408

NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro) SNV
Germline
Chr16:89744974 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397485603 rs_770622823

1 SubmittersRCV001256406

NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) SNV
Germline
Chr16:89745017 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397485686 rs_2062210802

2 SubmittersRCV001256404RCV003523087

NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) SNV
Germline
Chr16:89745030 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397485716 rs_1185165443

2 SubmittersRCV002568708RCV001256297

NM_000135.4(FANCA):c.3513G>A (p.Leu1171=) SNV
Germline
Chr16:89746584 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA497195371 rs_2038398296

1 SubmittersRCV001256295

NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) SNV
Germline
Chr16:89746606 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397485858 rs_2038399117

2 SubmittersRCV002570433RCV001256294

NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) SNV
Germline
Chr16:89746607 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397485861 rs_545772434

4 SubmittersRCV001879789RCV001256293

NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val) SNV
Germline
Chr16:89746853 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486086 rs_2038408351

1 SubmittersRCV001256286

NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr) SNV
Germline
Chr16:89746889 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397486164 rs_2038409656

2 SubmittersRCV001256619RCV005432634

NM_000135.4(FANCA):c.3348+5G>A SNV
Germline
Chr16:89748654 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA624280485 rs_1343799019

1 SubmittersRCV001256617

NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) SNV
Germline
Chr16:89748672 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397486206 rs_2038474528

2 SubmittersRCV001256614RCV004587093

NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) SNV
Germline
Chr16:89748678 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397486219 rs_752837228

2 SubmittersRCV001256613

NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) SNV
Germline
Chr16:89748721 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397486316 rs_775799529

2 SubmittersRCV001256611

NM_000135.4(FANCA):c.3240-2A>G SNV
Germline
Chr16:89748769 Likely pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486410 rs_2038478110

1 SubmittersRCV001256608

NM_000135.4(FANCA):c.3239+82T>G SNV
Germline
Chr16:89749648 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA1139665034 rs_2038511531

1 SubmittersRCV001256515

NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu) SNV
Germline
Chr16:89749730 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486417 rs_1555538571

1 SubmittersRCV001256514

NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) SNV
Germline
Chr16:89749805 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA397486565 rs_1429943036

5 SubmittersRCV001256511RCV001879795RCV003405458

NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) SNV
Germline
Chr16:89749806 Likely pathogenic Fanconi anemia
Condition: not provided
Criteria Provided
Single Submitter
CA397486567 rs_753063086

2 SubmittersRCV001879794RCV001256510

NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter) SNV
Germline
Chr16:89749839 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486638 rs_1172710952

1 SubmittersRCV001256508

NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) SNV
Germline
Chr16:89749878 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397486715 rs_1270910813

2 SubmittersRCV001256507RCV002570437

NM_000135.4(FANCA):c.3067-1G>A SNV
Germline
Chr16:89749903 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397486771 rs_2038522097

1 SubmittersRCV001256506

NM_000135.4(FANCA):c.3066+1G>A SNV
Germline
Chr16:89752137 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA8251368 rs_587783028

2 SubmittersRCV001256505RCV001377117

NM_000135.4(FANCA):c.2982-192A>G SNV
Germline
Chr16:89752414 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA1139665040 rs_2038628210

1 SubmittersRCV001256396

NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter) SNV
Germline
Chr16:89758692 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397431547 rs_2038844292

1 SubmittersRCV001256392

NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter) SNV
Germline
Chr16:89758704 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397431606 rs_2038844790

1 SubmittersRCV001256391

NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys) SNV
Germline
Chr16:89761995 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397433665 rs_2038968872

1 SubmittersRCV001256276

NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg) SNV
Germline
Chr16:89762007 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397433831 rs_2038969261

1 SubmittersRCV001256275

NM_000135.4(FANCA):c.2778+1G>T SNV
Germline
Chr16:89764889 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA286555302 rs_140180549

1 SubmittersRCV001256601

NM_000135.4(FANCA):c.2778+1G>C SNV
Germline
Chr16:89764889 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397437784 rs_140180549

2 SubmittersRCV001256602RCV001389973

NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro) SNV
Germline
Chr16:89764945 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397438152 rs_2039075542

1 SubmittersRCV001256598

NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) SNV
Germline
Chr16:89764960 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397438224 rs_1354272260

3 SubmittersRCV001879801RCV001256597

NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) SNV
Germline
Chr16:89764990 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397438492 rs_2039077331

2 SubmittersRCV001256596RCV002570438

NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) SNV
Germline
Chr16:89765036 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397438857 rs_1017086086

4 SubmittersRCV001256501

NM_000135.4(FANCA):c.2602-1G>A SNV
Germline
Chr16:89765067 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA8251622 rs_747823528

2 SubmittersRCV001256494RCV001389974

NM_000135.4(FANCA):c.2602-2A>C SNV
Germline
Chr16:89765068 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397438953 rs_1555545592

3 SubmittersRCV002570436RCV001256493

NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp) SNV
Germline
Chr16:89767215 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
FANCA-related disorder
No Assertion Criteria Provided
CA8251683 rs_374030577

2 SubmittersRCV001256387RCV004727049

NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg) SNV
Germline
Chr16:89767229 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397440895 rs_1216922486

1 SubmittersRCV001256386

NM_000135.4(FANCA):c.2504+134A>G SNV
Germline
Chr16:89769703 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA1139665008 rs_2039254077

1 SubmittersRCV001256381

NM_000135.4(FANCA):c.2504+2T>C SNV
Germline
Chr16:89769835 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397442926 rs_2039260502

1 SubmittersRCV001256274

NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro) SNV
Germline
Chr16:89769891 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397443331 rs_1307805145

1 SubmittersRCV001256272

NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro) SNV
Germline
Chr16:89769979 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397444289 rs_1036897594

1 SubmittersRCV001256271

NM_000135.4(FANCA):c.2316+1G>T SNV
Germline
Chr16:89770165 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397444895 rs_2039275333

1 SubmittersRCV001256266

NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) SNV
Germline
Chr16:89770192 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8251802 rs_751572448

4 SubmittersRCV001256263RCV001879787

NM_000135.4(FANCA):c.2282T>A (p.Val761Glu) SNV
Germline
Chr16:89770200 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397445150 rs_2039276663

1 SubmittersRCV001256262

NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys) SNV
Germline
Chr16:89770258 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397446793 rs_1239354393

1 SubmittersRCV001256592

NM_000135.4(FANCA):c.2223-3C>G SNV
Germline
Chr16:89770262 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA1139665014 rs_2039278966

1 SubmittersRCV001256591

NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro) SNV
Germline
Chr16:89770616 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397447351 rs_2039290343

1 SubmittersRCV001256588

NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr) SNV
Germline
Chr16:89771775 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397448578 rs_1183781456

1 SubmittersRCV001256488

NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) SNV
Germline
Chr16:89771808 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286566599 rs_17232973

3 SubmittersRCV001256487RCV003523088

NM_000135.4(FANCA):c.2015-1G>T SNV
Germline
Chr16:89771815 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397448769 rs_1555548632

2 SubmittersRCV001256483RCV001879792

NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) SNV
Germline
Chr16:89773280 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397449520 rs_2039386741

3 SubmittersRCV001256482RCV002570435

NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn) SNV
Germline
Chr16:89778835 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397454528 rs_2039605345

1 SubmittersRCV001256368

NM_000135.4(FANCA):c.1627-1G>T SNV
Germline
Chr16:89779958 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397456643 rs_2039644862

1 SubmittersRCV001256581

NM_000135.4(FANCA):c.1567-20A>G SNV
Germline
Chr16:89782938 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8252253 rs_775154397

3 SubmittersRCV001256576RCV003399023

NM_000135.4(FANCA):c.1566+3A>C SNV
Germline
Chr16:89783004 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA1139665027 rs_2039773398

1 SubmittersRCV001256575

NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter) SNV
Germline
Chr16:89783038 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397458109 rs_2039774778

2 SubmittersRCV001256573

NM_000135.4(FANCA):c.1471-1G>T SNV
Germline
Chr16:89783103 Pathogenic Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Single Submitter
CA397458327 rs_2039777078

2 SubmittersRCV003462829RCV001256474

NM_000135.4(FANCA):c.1470+1G>T SNV
Germline
Chr16:89784853 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397459565 rs_1555556175

1 SubmittersRCV001256468

NM_000135.4(FANCA):c.1470G>A (p.Gln490=) SNV
Germline
Chr16:89784854 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA497191166 rs_2039844218

1 SubmittersRCV001256467

NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) SNV
Germline
Chr16:89784860 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397459605 rs_2039844441

5 SubmittersRCV001256466RCV003485697

NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg) SNV
Germline
Chr16:89791932 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397465911 rs_2040089994

1 SubmittersRCV001256244

NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro) SNV
Germline
Chr16:89792067 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397466421 rs_2040094645

1 SubmittersRCV001256238

NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg) SNV
Germline
Chr16:89792481 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA286594069 rs_1045404649

1 SubmittersRCV001256569

NM_000135.4(FANCA):c.894-1G>A SNV
Germline
Chr16:89796019 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397470479 rs_2040234338

1 SubmittersRCV001256460

NM_000135.4(FANCA):c.893+920C>A SNV
Germline
Chr16:89798246 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA1139664972 rs_1174586234

1 SubmittersRCV001256457

NM_000135.4(FANCA):c.893+1G>T SNV
Germline
Chr16:89799165 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397472727 rs_2040352832

2 SubmittersRCV001256456RCV003635949

NM_000135.4(FANCA):c.827-1G>T SNV
Germline
Chr16:89799233 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397473215 rs_753728435

5 SubmittersRCV001256351RCV003523086

NM_000135.4(FANCA):c.793-2A>C SNV
Germline
Chr16:89799640 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397473720 rs_2040372065

1 SubmittersRCV001256340

NM_000135.4(FANCA):c.792G>A (p.Gln264=) SNV
Germline
Chr16:89803259 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA497195217 rs_2040520107

1 SubmittersRCV001256230

NM_000135.4(FANCA):c.710-2A>G SNV
Germline
Chr16:89803343 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397476550 rs_2040523467

2 SubmittersRCV001256224

NM_000135.4(FANCA):c.710-10G>A SNV
Germline
Chr16:89803351 Conflicting classifications of pathogenicity Fanconi anemia complementation group A Criteria Provided
Conflicting Classifications
CA1139664978 rs_2040524006

3 SubmittersRCV001256222

NM_000135.4(FANCA):c.709+1G>A SNV
Germline
Chr16:89805279 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8252850 rs_753211631

3 SubmittersRCV001256556RCV001879798

NM_000135.4(FANCA):c.683C>G (p.Ala228Gly) SNV
Germline
Chr16:89805306 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397477803 rs_1354884515

1 SubmittersRCV001256555

NM_000135.4(FANCA):c.629T>G (p.Leu210Arg) SNV
Germline
Chr16:89805360 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397478113 rs_2040601073

1 SubmittersRCV001256554

NM_000135.4(FANCA):c.597-2A>G SNV
Germline
Chr16:89805394 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397478273 rs_2040602804

1 SubmittersRCV001256545

NM_000135.4(FANCA):c.505G>T (p.Glu169Ter) SNV
Germline
Chr16:89810724 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397480675 rs_372691338

1 SubmittersRCV001256445

NM_000135.4(FANCA):c.448G>T (p.Glu150Ter) SNV
Germline
Chr16:89810781 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397480799 rs_947111024

1 SubmittersRCV001256442

NM_000135.4(FANCA):c.427-2A>G SNV
Germline
Chr16:89810804 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397480844 rs_765684774

2 SubmittersRCV001879791RCV001256440

NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) SNV
Germline
Chr16:89810931 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397480856 rs_2040853392

4 SubmittersRCV001256339RCV003635948

NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) SNV
Germline
Chr16:89814528 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397482431 rs_1183559927

3 SubmittersRCV001256219RCV004769973

NM_000135.4(FANCA):c.190-1G>C SNV
Germline
Chr16:89814614 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA8253121 rs_765277254

2 SubmittersRCV001256212

NM_000135.4(FANCA):c.189+2T>A SNV
Germline
Chr16:89815875 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Single Submitter
CA397483181 rs_2041094594

2 SubmittersRCV001879797RCV001256542

NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) SNV
Germline
Chr16:89815938 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397483468 rs_1158456786

2 SubmittersRCV001256539RCV003523089

NM_000135.4(FANCA):c.66G>A (p.Trp22Ter) SNV
Germline
Chr16:89816550 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484425 rs_2041138210

1 SubmittersRCV001256534

NM_000135.4(FANCA):c.14G>A (p.Trp5Ter) SNV
Germline
Chr16:89816602 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397484625 rs_2041143697

1 SubmittersRCV001256437

NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) SNV
Unknown
Chr16:89742812 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397485298 rs_752126515

1 SubmittersRCV001263705

NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) SNV
Unknown
Chr16:89742925 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397485529 rs_2062172011

1 SubmittersRCV001263706

NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) SNV
Germline
Chr16:89746597 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397485840 rs_2038398856

3 SubmittersRCV001263707RCV003635956

NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) SNV
Germline
Chr16:89749836 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397486630 rs_2038519770

2 SubmittersRCV001263708

NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) SNV
Unknown
Chr16:89752187 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397426177 rs_2038618125

1 SubmittersRCV001263709

NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter) SNV
Unknown
Chr16:89761953 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397433151 rs_2038967261

1 SubmittersRCV001263710

NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) SNV
Germline
Chr16:89769842 Pathogenic/Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397442973 rs_2039260856

3 SubmittersRCV001263791

NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) SNV
Germline
Chr16:89769852 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Single Submitter
CA397443058 rs_772477788

2 SubmittersRCV001263792RCV005614507

NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) SNV
Unknown
Chr16:89769869 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397443177 rs_2039261844

1 SubmittersRCV001263793

NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) SNV
Unknown
Chr16:89770248 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397446739 rs_1338018512

1 SubmittersRCV001263794

NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) SNV
Unknown
Chr16:89773334 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397450056 rs_140785340

1 SubmittersRCV001263795

NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) SNV
Unknown
Chr16:89778805 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397454317 rs_938278864

1 SubmittersRCV001263796

NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) SNV
Unknown
Chr16:89782900 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397457998 rs_2039768709

1 SubmittersRCV001263797

NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) SNV
Germline
Chr16:89784856 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397459584 rs_1266348463

3 SubmittersRCV001263798RCV001880068

NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) SNV
Unknown
Chr16:89784874 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397459701 rs_2039845162

1 SubmittersRCV001264168

NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) SNV
Unknown
Chr16:89791990 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397466173 rs_2040091746

1 SubmittersRCV001264169

NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) SNV
Unknown
Chr16:89792484 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397466623 rs_773687142

1 SubmittersRCV001264170

NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) SNV
Unknown
Chr16:89805331 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397477944 rs_775697743

1 SubmittersRCV001264171

NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) SNV
Unknown
Chr16:89810709 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397480639 rs_1454055874

1 SubmittersRCV001264172

NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) SNV
Unknown
Chr16:89810762 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397480757 rs_1419169954

1 SubmittersRCV001264173

NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) SNV
Unknown
Chr16:89810991 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397480968 rs_2040857662

1 SubmittersRCV001264174

NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) SNV
Unknown
Chr16:89811047 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397481072 rs_147176389

2 SubmittersRCV001264295

NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) SNV
Germline
Chr16:89815984 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397483807 rs_2041102320

4 SubmittersRCV001264296RCV001880078

NM_000135.4(FANCA):c.2394C>T (p.Leu798=) SNV
Germline
Chr16:89769947 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251736 rs_765883419

5 SubmittersRCV001277943RCV001431916RCV003405481RCV004978222

NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) SNV
Germline
Chr16:89738965 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8250696 rs_199652831

6 SubmittersRCV001292617RCV001859237RCV004998794

NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) SNV
Germline
Chr16:89767213 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397440789 rs_1247378731

1 SubmittersRCV001292921

NM_000135.4(FANCA):c.2982-8C>G SNV
Germline
Chr16:89752230 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Criteria Provided
Conflicting Classifications
CA8251388 rs_781331325

3 SubmittersRCV001307466RCV001820000

NM_000135.4(FANCA):c.2109G>C (p.Gln703His) SNV
Germline
Chr16:89771720 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251908 rs_371458363

3 SubmittersRCV001309099RCV002476427

NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) SNV
Germline
Chr16:89773334 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251967 rs_140785340

6 SubmittersRCV001300117RCV001819989RCV002476391RCV004978266RCV004998801

NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser) SNV
Germline
Chr16:89773354 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397450263 rs_924548467

4 SubmittersRCV001306865RCV005014382RCV005340765

NM_000135.4(FANCA):c.1567-9T>A SNV
Germline
Chr16:89782927 Conflicting classifications of pathogenicity Fanconi anemia
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA8252245 rs_747184077

2 SubmittersRCV001304314RCV003393965

NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) SNV
Germline
Chr16:89816597 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8253278 rs_780667753

3 SubmittersRCV001304743RCV002504460

NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg) SNV
Germline
Chr16:89739212 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250791 rs_773947543

2 SubmittersRCV001318525RCV005572543

NM_000135.4(FANCA):c.2779-9C>G SNV
Germline
Chr16:89762031 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251505 rs_764825402

3 SubmittersRCV001314540RCV005014394

NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) SNV
Germline
Chr16:89769958 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251739 rs_767455904

3 SubmittersRCV001325540RCV005014425

NM_000135.4(FANCA):c.837C>A (p.Asp279Glu) SNV
Germline
Chr16:89799222 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397473132 rs_752311383

2 SubmittersRCV001321097RCV005562686

NM_000135.4(FANCA):c.166G>A (p.Asp56Asn) SNV
Germline
Chr16:89815900 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397483282 rs_1360481164

3 SubmittersRCV001323193RCV005340782

NM_000135.4(FANCA):c.68C>T (p.Ala23Val) SNV
Germline
Chr16:89816548 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8253261 rs_776297241

4 SubmittersRCV001327579RCV002504516RCV004035243

NM_000135.4(FANCA):c.4168-4C>T SNV
Germline
Chr16:89738978 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA2241889468 rs_775180524

2 SubmittersRCV001331008RCV001458991

NM_000135.4(FANCA):c.189+1G>T SNV
Germline
Chr16:89815876 Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397483187 rs_891323617

2 SubmittersRCV001330798RCV001376795

NM_000135.4(FANCA):c.2309G>A (p.Arg770His) SNV
Germline
Chr16:89770173 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251798 rs_145552439

4 SubmittersRCV001338065RCV001820035RCV002499667

NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) SNV
Germline
Chr16:89791525 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252431 rs_780135578

3 SubmittersRCV001345449RCV002486403

NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) SNV
Germline
Chr16:89739167 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8250776 rs_760814763

3 SubmittersRCV001373469RCV002499768RCV004980408

NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) SNV
Germline
Chr16:89744975 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251083 rs_759303096

4 SubmittersRCV001361375RCV002504592

NM_000135.4(FANCA):c.2622A>G (p.Arg874=) SNV
Germline
Chr16:89765046 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA497379724 rs_1441752228

2 SubmittersRCV001365131

NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) SNV
Germline
Chr16:89771704 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251901 rs_746373917

5 SubmittersRCV001369132RCV002499756RCV003405615RCV005562728

NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) SNV
Germline
Chr16:89791455 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397463949 rs_2040074214

4 SubmittersRCV001376747RCV001726536

NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) SNV
Germline
Chr16:89746847 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA397486074 rs_2143109078

3 SubmittersRCV001379113RCV003442878RCV005014519

NM_000135.4(FANCA):c.3067-2A>G SNV
Germline
Chr16:89749904 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397486774 rs_2143140176

2 SubmittersRCV001377023RCV005014511

NM_000135.4(FANCA):c.2779-1G>T SNV
Germline
Chr16:89762023 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397434048 rs_2143261385

1 SubmittersRCV001376768

NM_000135.4(FANCA):c.2015-2A>C SNV
Germline
Chr16:89771816 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397448779 rs_2143351760

1 SubmittersRCV001379771

NM_000135.4(FANCA):c.1627-2A>G SNV
Germline
Chr16:89779959 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397456656 rs_2143433058

1 SubmittersRCV001377504

NM_000135.4(FANCA):c.1308G>C (p.Gln436His) SNV
Germline
Chr16:89791454 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397463942 rs_1316078638

1 SubmittersRCV001378190

NM_000135.4(FANCA):c.596+1G>C SNV
Germline
Chr16:89808293 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397479105 rs_2143656696

2 SubmittersRCV001379921RCV005014521

NM_000135.4(FANCA):c.426+1G>A SNV
Germline
Chr16:89810928 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397480851 rs_1343463467

3 SubmittersRCV001379431RCV001780295

NM_000135.4(FANCA):c.4011-1G>C SNV
Germline
Chr16:89739290 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484723 rs_761988162

1 SubmittersRCV001380733

NM_000135.4(FANCA):c.3239+1G>A SNV
Germline
Chr16:89749729 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486416 rs_2143137762

1 SubmittersRCV001389759

NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) SNV
Germline
Chr16:89749780 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397486520 rs_776391208

4 SubmittersRCV001389972RCV003469766RCV004998868

NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter) SNV
Germline
Chr16:89749800 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486556 rs_373545111

1 SubmittersRCV001388012

NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) SNV
Germline
Chr16:89765012 Pathogenic Fanconi anemia Criteria Provided
Multiple Submitters
No Conflicts
CA397438704 rs_1487360770

2 SubmittersRCV001382301

NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter) SNV
Germline
Chr16:89770183 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397445025 rs_947786901

1 SubmittersRCV001383871

NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) SNV
Germline
Chr16:89792008 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8252497 rs_769718381

2 SubmittersRCV001383443RCV003462991

NM_000135.4(FANCA):c.792+1G>A SNV
Germline
Chr16:89803258 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397475816 rs_2143615250

1 SubmittersRCV001388440

NM_000135.4(FANCA):c.731T>A (p.Leu244Ter) SNV
Germline
Chr16:89803320 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397476360 rs_868620166

1 SubmittersRCV001381966

NM_000135.4(FANCA):c.2778+83C>T SNV
Germline
Chr16:89764807 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA8251547 rs_750997715

2 SubmittersRCV001408136

NM_000135.4(FANCA):c.3736C>T (p.Leu1246=) SNV
Germline
Chr16:89742829 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA497194911 rs_2062169927

3 SubmittersRCV001439431RCV004980487RCV004998899

NM_000135.4(FANCA):c.3540G>A (p.Val1180=) SNV
Germline
Chr16:89745045 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA497195227 rs_1423399664

3 SubmittersRCV001429801RCV001820124RCV005562761

NM_000135.4(FANCA):c.3409-9C>G SNV
Germline
Chr16:89746697 Conflicting classifications of pathogenicity Fanconi anemia
FANCA-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251162 rs_368943794

4 SubmittersRCV001429127RCV003946126RCV002261363

NM_000135.4(FANCA):c.2504+10T>G SNV
Germline
Chr16:89769827 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251708 rs_770043372

2 SubmittersRCV001447493RCV001509532

NM_000135.4(FANCA):c.1557C>T (p.Ala519=) SNV
Germline
Chr16:89783016 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252277 rs_765079866

2 SubmittersRCV001447909RCV005014568

NM_000135.4(FANCA):c.1098G>T (p.Leu366=) SNV
Germline
Chr16:89792054 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA497192703 rs_1598152908

2 SubmittersRCV001422310RCV005014560

NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) SNV
Germline
Chr16:89742926 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA497195052 rs_1567598479

3 SubmittersRCV001472526RCV005340969

NM_000135.4(FANCA):c.2151+7G>A SNV
Germline
Chr16:89771671 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA2241911418 rs_2039330078

3 SubmittersRCV001455479RCV003478841RCV002501596

NM_000135.4(FANCA):c.1901-9T>C SNV
Germline
Chr16:89773393 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA286568236 rs_886052486

2 SubmittersRCV001476844RCV002476788

NM_000135.4(FANCA):c.427-6T>C SNV
Germline
Chr16:89810808 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA624454932 rs_1295402252

2 SubmittersRCV001457874RCV005001222

NM_000135.4(FANCA):c.283+9T>C SNV
Germline
Chr16:89814511 Conflicting classifications of pathogenicity Fanconi anemia
FANCA-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8253098 rs_779593295

3 SubmittersRCV001462986RCV003920981RCV001800996

NM_000135.4(FANCA):c.3828+10A>G SNV
Germline
Chr16:89740794 Conflicting classifications of pathogenicity Fanconi anemia
not specified
Criteria Provided
Conflicting Classifications
CA8250951 rs_368372404

2 SubmittersRCV001491838RCV001820192

NM_000135.4(FANCA):c.1716-10T>G SNV
Germline
Chr16:89779013 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA624252670 rs_1270971513

2 SubmittersRCV001480841RCV003481112

NM_000135.4(FANCA):c.946C>T (p.Leu316=) SNV
Germline
Chr16:89795966 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252616 rs_775506986

5 SubmittersRCV001481793RCV004809636RCV005340981

NM_000135.4(FANCA):c.3240-11C>G SNV
Germline
Chr16:89748778 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251257 rs_138826926

2 SubmittersRCV001508801RCV002070285

NM_000135.4(FANCA):c.2316+13T>C SNV
Germline
Chr16:89770153 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA2499223836 rs_2143335460

2 SubmittersRCV001509533RCV003635960

NM_000135.4(FANCA):c.893+19C>G SNV
Germline
Chr16:89799147 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252701 rs_377406711

3 SubmittersRCV001509535RCV002070287RCV005232359

NM_000135.4(FANCA):c.2504+1G>C SNV
Germline
Chr16:89769836 Likely pathogenic Abnormality of blood and blood-forming tissues
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397442936 rs_2039260545

2 SubmittersRCV001814541RCV002570638

NM_000135.4(FANCA):c.2602-1G>T SNV
Germline
Chr16:89765067 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397438949 rs_747823528

2 SubmittersRCV001568536RCV003523097

NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter) SNV
Germline
Chr16:89791418 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397463689 rs_1199670660

1 SubmittersRCV001615348

NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) SNV
Germline
Chr16:89748725 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA397486327 rs_761244757

2 SubmittersRCV001615349

NM_000135.4(FANCA):c.826+2T>C SNV
Germline
Chr16:89799603 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA397473388 rs_2143585058

2 SubmittersRCV001615381

NM_000135.4(FANCA):c.3408+1G>T SNV
Germline
Chr16:89746830 Likely pathogenic Neurodevelopmental abnormality Criteria Provided
Single Submitter
CA397486035 rs_1567601557

1 SubmittersRCV001733870

NM_000135.4(FANCA):c.1716-2A>C SNV
Germline
Chr16:89779005 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA397455038 rs_2143424712

1 SubmittersRCV003238556

NM_000135.4(FANCA):c.1827-2A>G SNV
Germline
Chr16:89775817 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397452233 rs_2143393518

4 SubmittersRCV002544206RCV003325232RCV003237526

NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter) SNV
Germline
Chr16:89783064 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397458159 rs_1598136954

1 SubmittersRCV001775050

NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) SNV
Germline
Chr16:89771686 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8251895 rs_781436006

2 SubmittersRCV001783242RCV002034561

NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) SNV
Germline
Chr16:89808310 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397479183 rs_1384166265

4 SubmittersRCV001783244RCV002544245

NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) SNV
Germline
Chr16:89749735 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397486429 rs_764030196

2 SubmittersRCV001783246RCV002541143

NM_000135.4(FANCA):c.1567-1G>C SNV
Germline
Chr16:89782919 Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397458037 rs_1464032361

2 SubmittersRCV001783247RCV002544246

NM_000135.4(FANCA):c.2070C>T (p.His690=) SNV
Germline
Chr16:89771759 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA497185133 rs_1422723344

2 SubmittersRCV001817379RCV002541992

NM_000135.4(FANCA):c.596+12A>G SNV
Germline
Chr16:89808282 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8252917 rs_377151927

2 SubmittersRCV001817620RCV002077288

NM_000135.4(FANCA):c.3315C>T (p.Cys1105=) SNV
Germline
Chr16:89748692 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251237 rs_749550737

2 SubmittersRCV001819290RCV002542557

NM_000135.4(FANCA):c.2853-7G>T SNV
Germline
Chr16:89758712 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA2573054313 rs_1244691285

2 SubmittersRCV001819392RCV005095249

NM_000135.4(FANCA):c.2621G>C (p.Arg874Thr) SNV
Germline
Chr16:89765047 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397438905 rs_780114543

2 SubmittersRCV001820282RCV005341061

NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) SNV
Germline
Chr16:89764933 Conflicting classifications of pathogenicity not specified
Fanconi anemia
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251581 rs_376302719

6 SubmittersRCV001820474RCV002542628RCV003394276RCV002489878RCV004998963RCV005341063

NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) SNV
Germline
Chr16:89739204 Pathogenic/Likely pathogenic Condition: not provided
FANCA-related disorder
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397484423 rs_1336834251

4 SubmittersRCV001817684RCV003401739RCV003635979RCV004571115

NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) SNV
Germline
Chr16:89779944 Conflicting classifications of pathogenicity not specified
Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252183 rs_550821697

3 SubmittersRCV001844448RCV002543294RCV004980743

NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) SNV
Germline
Chr16:89738884 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA286614248 rs_984285795

2 SubmittersRCV001844451RCV003464156

NM_000135.4(FANCA):c.427-3C>G SNV
Germline
Chr16:89810805 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA2241938851 rs_2040847223

1 SubmittersRCV001844452

NM_000135.4(FANCA):c.797C>T (p.Thr266Met) SNV
Germline
Chr16:89799634 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252771 rs_752799441

2 SubmittersRCV002012325RCV002492095

NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys) SNV
Germline
Chr16:89764933 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397438117 rs_376302719

2 SubmittersRCV001923083RCV005343142

NM_000135.4(FANCA):c.426+2T>A SNV
Germline
Chr16:89810927 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397480846 rs_1598190568

1 SubmittersRCV001974185

NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter) SNV
Germline
Chr16:89775788 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397452011 rs_747994845

1 SubmittersRCV001945161

NM_000135.4(FANCA):c.2317-1G>A SNV
Germline
Chr16:89770025 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397444709 rs_1230207719

1 SubmittersRCV002032199

NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter) SNV
Germline
Chr16:89742893 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485466 rs_2143062233

1 SubmittersRCV001939405

NM_000135.4(FANCA):c.562C>T (p.Gln188Ter) SNV
Germline
Chr16:89808328 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397479274 rs_776471397

1 SubmittersRCV001875644

NM_000135.4(FANCA):c.1226-1G>C SNV
Germline
Chr16:89791537 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397464646 rs_1417768931

2 SubmittersRCV001889270RCV004571540

NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) SNV
Germline
Chr16:89770216 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
not specified
Criteria Provided
Conflicting Classifications
CA8251807 rs_556748657

3 SubmittersRCV001948275RCV002507601RCV002266062

NM_000135.4(FANCA):c.1900+1G>A SNV
Germline
Chr16:89775741 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397451761 rs_1598120768

1 SubmittersRCV002012997

NM_000135.4(FANCA):c.4285G>C (p.Asp1429His) SNV
Germline
Chr16:89738684 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA397483115 rs_748856769

2 SubmittersRCV001985509RCV004999565

NM_000135.4(FANCA):c.626G>A (p.Trp209Ter) SNV
Germline
Chr16:89805363 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397478137 rs_2143632171

1 SubmittersRCV001953882

NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) SNV
Germline
Chr16:89803284 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA286605282 rs_377078635

3 SubmittersRCV002051126RCV002254728RCV005341071

NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) SNV
Germline
Chr16:89791939 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397465957 rs_1280130060

5 SubmittersRCV001943582RCV003464242RCV004720977

NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) SNV
Germline
Chr16:89810772 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397480781 rs_774448881

2 SubmittersRCV001975171RCV004571749

NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) SNV
Germline
Chr16:89770574 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251847 rs_751015814

4 SubmittersRCV001913935RCV002484544RCV004616877RCV004999003

NM_000135.4(FANCA):c.3935-2A>T SNV
Germline
Chr16:89739555 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484881 rs_1189106357

1 SubmittersRCV001901150

NM_000135.4(FANCA):c.2505-1G>C SNV
Germline
Chr16:89767238 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397440969 rs_1438990537

1 SubmittersRCV002028818

NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter) SNV
Germline
Chr16:89792484 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397466626 rs_773687142

1 SubmittersRCV001919985

NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) SNV
Germline
Chr16:89770615 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA8251860 rs_777032467

3 SubmittersRCV001965614RCV002507709RCV003154227

NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn) SNV
Germline
Chr16:89746663 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251151 rs_375630115

3 SubmittersRCV001886345RCV002272518RCV005552469

NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter) SNV
Germline
Chr16:89782892 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397457981 rs_762342197

1 SubmittersRCV002000221

NM_000135.4(FANCA):c.1225+14C>T SNV
Germline
Chr16:89791913 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252469 rs_376558078

2 SubmittersRCV002007118RCV002492114

NM_000135.4(FANCA):c.2222+1G>T SNV
Germline
Chr16:89770563 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8251841 rs_775388912

2 SubmittersRCV002019041RCV003464346

NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter) SNV
Germline
Chr16:89758662 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397431412 rs_1192724266

1 SubmittersRCV001999997

NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter) SNV
Germline
Chr16:89767191 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397440623 rs_1406289451

1 SubmittersRCV002037771

NM_000135.4(FANCA):c.283+1G>A SNV
Germline
Chr16:89814519 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397482412 rs_1232171121

2 SubmittersRCV001906162RCV003464213

NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter) SNV
Germline
Chr16:89742802 Pathogenic Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA397485275 rs_2062169243

2 SubmittersRCV001939484RCV003107917

NM_000135.4(FANCA):c.137C>G (p.Ser46Ter) SNV
Germline
Chr16:89815929 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397483405 rs_2041098068

1 SubmittersRCV001939493

NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter) SNV
Germline
Chr16:89791409 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397463610 rs_2143525603

1 SubmittersRCV001939553

NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) SNV
Germline
Chr16:89748734 Pathogenic/Likely pathogenic Fanconi anemia Criteria Provided
Multiple Submitters
No Conflicts
CA397486347 rs_1450151864

2 SubmittersRCV001953458

NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter) SNV
Germline
Chr16:89738929 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397483453 rs_2151710810

1 SubmittersRCV001951051

NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter) SNV
Germline
Chr16:89740823 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA8250957 rs_752800577

1 SubmittersRCV001970064

NM_000135.4(FANCA):c.1777-2A>G SNV
Germline
Chr16:89778852 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397454640 rs_2143422990

1 SubmittersRCV002025307

NM_000135.4(FANCA):c.522+2T>C SNV
Germline
Chr16:89810705 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397480628 rs_2143677013

1 SubmittersRCV002025367

NM_000135.4(FANCA):c.2689C>T (p.His897Tyr) SNV
Germline
Chr16:89764979 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251593 rs_766402927

2 SubmittersRCV001898751RCV005343124

NM_000135.4(FANCA):c.1007-2A>G SNV
Germline
Chr16:89792549 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397467138 rs_2040110878

2 SubmittersRCV002000789RCV003471230

NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr) SNV
Germline
Chr16:89740818 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397485154 rs_2062114648

2 SubmittersRCV002018411RCV005343268

NM_000135.4(FANCA):c.2222+1G>A SNV
Germline
Chr16:89770563 Likely pathogenic Fanconi anemia
FANCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA286565330 rs_775388912

2 SubmittersRCV002019381RCV003395342

NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu) SNV
Germline
Chr16:89742869 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251019 rs_563966600

4 SubmittersRCV002042033RCV004998967RCV005006097RCV004980761

NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter) SNV
Germline
Chr16:89752140 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397425895 rs_2143163267

2 SubmittersRCV002042193RCV005014701

NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) SNV
Germline
Chr16:89782878 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8252229 rs_769047348

2 SubmittersRCV001944168RCV003464258

NM_000135.4(FANCA):c.752C>G (p.Ser251Ter) SNV
Germline
Chr16:89803299 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397476170 rs_878853666

1 SubmittersRCV001921935

NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) SNV
Germline
Chr16:89771703 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251900 rs_148203537

4 SubmittersRCV002305638RCV001983248RCV002492141

NM_000135.4(FANCA):c.2979A>G (p.Gln993=) SNV
Germline
Chr16:89758579 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251415 rs_761577170

2 SubmittersRCV002023802RCV003478924

NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) SNV
Germline
Chr16:89740030 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397484968 rs_1232415717

3 SubmittersRCV001909978RCV002291785RCV005565005

NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser) SNV
Germline
Chr16:89749848 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251324 rs_769635187

3 SubmittersRCV001974621RCV005016891RCV005565036

NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) SNV
Germline
Chr16:89739263 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8250805 rs_201886956

5 SubmittersRCV001979879RCV003481210RCV002507672

NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) SNV
Germline
Chr16:89739269 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8250807 rs_778544563

4 SubmittersRCV001983460RCV003478916RCV004976092RCV005008368

NM_000135.4(FANCA):c.3514-1G>T SNV
Germline
Chr16:89745072 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485799 rs_2143088468

1 SubmittersRCV002027339

NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) SNV
Germline
Chr16:89791458 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397463964 rs_1060501879

1 SubmittersRCV001980940

NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) SNV
Germline
Chr16:89739192 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8250783 rs_750839091

4 SubmittersRCV003478928RCV004976216RCV005008448RCV002174875

NM_000135.4(FANCA):c.4137A>G (p.Pro1379=) SNV
Germline
Chr16:89739163 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA497379269 rs_1172262659

3 SubmittersRCV002093256RCV005333166RCV004999638

NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) SNV
Germline
Chr16:89752196 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251380 rs_757175768

3 SubmittersRCV002097701RCV005343329RCV003154060

NM_000135.4(FANCA):c.1542C>T (p.Ala514=) SNV
Germline
Chr16:89783031 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA286579104 rs_962460972

3 SubmittersRCV002137529RCV004973319RCV004999649

NM_000135.4(FANCA):c.2014+12T>A SNV
Germline
Chr16:89773259 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8251959 rs_370998253

2 SubmittersRCV002143588RCV002261456

NM_000135.4(FANCA):c.793-11T>C SNV
Germline
Chr16:89799649 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA286599878 rs_1030329914

2 SubmittersRCV002103991RCV005055186

NM_000135.4(FANCA):c.2667C>T (p.Ala889=) SNV
Germline
Chr16:89765001 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251599 rs_771425634

3 SubmittersRCV002193620RCV004973354

NM_000135.4(FANCA):c.793-12C>G SNV
Germline
Chr16:89799650 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA8252776 rs_746312984

2 SubmittersRCV002117319

NM_000135.4(FANCA):c.3734A>G (p.Gln1245Arg) SNV
Germline
Chr16:89742831 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251007 rs_542032916

2 SubmittersRCV002094835RCV005343324

NM_000135.4(FANCA):c.2602-8T>C SNV
Germline
Chr16:89765074 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA8251626 rs_772897825

2 SubmittersRCV002216792

NM_000135.4(FANCA):c.1226-13G>C SNV
Germline
Chr16:89791549 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA8252441 rs_377159744

2 SubmittersRCV002120177

NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) SNV
Germline
Chr16:89764989 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA397438479 rs_2143288874

1 SubmittersRCV002254009

NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) SNV
Germline
Chr16:89791419 Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided
CA8252399 rs_769203048

1 SubmittersRCV002254010

NM_000135.4(FANCA):c.3349-11C>A SNV
Germline
Chr16:89746901 Conflicting classifications of pathogenicity Fanconi anemia Criteria Provided
Conflicting Classifications
CA624280316 rs_1190325114

2 SubmittersRCV002257103

NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) SNV
Germline
Chr16:89738675 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8250587 rs_769243354

3 SubmittersRCV002258494RCV002488641

NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) SNV
Germline
Chr16:89773373 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397450387 rs_2143367693

2 SubmittersRCV002271829RCV002307853

NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter) SNV
Germline
Chr16:89791410 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397463621 rs_2040072957

2 SubmittersRCV002282807RCV003464430

NM_000135.4(FANCA):c.1165G>T (p.Val389Leu) SNV
Germline
Chr16:89791987 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397466165 rs_1402841866

1 SubmittersRCV002285083

NM_000135.4(FANCA):c.971T>C (p.Leu324Pro) SNV
Germline
Chr16:89795941 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397469938 rs_1447363475

1 SubmittersRCV002286879

NM_000135.4(FANCA):c.367C>T (p.Gln123Ter) SNV
Germline
Chr16:89810988 Pathogenic Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA286608251 rs_985886242

3 SubmittersRCV002287060RCV003097710RCV003464436

NM_000135.4(FANCA):c.301C>T (p.Gln101Ter) SNV
Unknown
Chr16:89811054 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397481088 rs_140412064

1 SubmittersRCV002306662

NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) SNV
Germline
Chr16:89752210 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
FANCA-related disorder
Criteria Provided
Conflicting Classifications
CA397426441 rs_758384536

4 SubmittersRCV002306708RCV003395454

NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter) SNV
Unknown
Chr16:89779930 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397456396 rs_1012809189

1 SubmittersRCV002309621

NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter) SNV
Unknown
Chr16:89775754 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397451811 rs_2544213738

1 SubmittersRCV002308219

NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter) SNV
Unknown
Chr16:89746619 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397485887 rs_1164540064

2 SubmittersRCV002309318

NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter) SNV
Unknown
Chr16:89773313 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397449850 rs_2544207436

1 SubmittersRCV002309428

NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter) SNV
Germline
Chr16:89791930 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397465904 rs_2544273183

2 SubmittersRCV005096135RCV002310117

NM_000135.4(FANCA):c.3934+1G>C SNV
Unknown
Chr16:89739993 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA397484887 rs_2062087795

1 SubmittersRCV002481100

NM_000135.4(FANCA):c.190-2A>G SNV
Germline
Chr16:89814615 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397482668 rs_183350210

1 SubmittersRCV003064370

NM_000135.4(FANCA):c.2424T>C (p.Pro808=) SNV
Germline
Chr16:89769917 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA497379550 rs_2544195835

3 SubmittersRCV003073883RCV003477040RCV005567375

NM_000135.4(FANCA):c.1566+2C>G SNV
Germline
Chr16:89783005 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397458042 rs_1316950815

1 SubmittersRCV003051329

NM_000135.4(FANCA):c.284-2A>C SNV
Germline
Chr16:89811073 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8253074 rs_756023006

2 SubmittersRCV003051001RCV003340603

NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe) SNV
Germline
Chr16:89742934 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251040 rs_140143192

3 SubmittersRCV003067015RCV005010940RCV005335619

NM_000135.4(FANCA):c.2152-1G>A SNV
Germline
Chr16:89770635 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397447442 rs_2143340252

1 SubmittersRCV003087650

NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr) SNV
Germline
Chr16:89746676 Conflicting classifications of pathogenicity Inborn genetic diseases
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA8251157 rs_547984666

2 SubmittersRCV003075260RCV003075261

NM_000135.4(FANCA):c.3409-2A>G SNV
Germline
Chr16:89746690 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397486029 rs_2143107119

2 SubmittersRCV003072414RCV003459740

NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr) SNV
Germline
Chr16:89784870 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252335 rs_760790832

3 SubmittersRCV003092454RCV005021549RCV005335659

NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys) SNV
Germline
Chr16:89792478 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252544 rs_776751315

2 SubmittersRCV002596009RCV005335693

NM_000135.4(FANCA):c.2828C>T (p.Ala943Val) SNV
Germline
Chr16:89761973 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251489 rs_779851064

2 SubmittersRCV002596014RCV002610696

NM_000135.4(FANCA):c.1618A>G (p.Ile540Val) SNV
Germline
Chr16:89782867 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397457927 rs_2544242608

2 SubmittersRCV002616449RCV005567433

NM_000135.4(FANCA):c.596+1G>A SNV
Germline
Chr16:89808293 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397479106 rs_2143656696

1 SubmittersRCV002615091

NM_000135.4(FANCA):c.617T>C (p.Val206Ala) SNV
Germline
Chr16:89805372 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252876 rs_756140322

3 SubmittersRCV002599060RCV003477049RCV005333520

NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter) SNV
Germline
Chr16:89792026 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397466247 rs_2040093330

1 SubmittersRCV002628881

NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter) SNV
Germline
Chr16:89739512 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484803 rs_764620351

1 SubmittersRCV002647205

NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter) SNV
Germline
Chr16:89742811 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485295 rs_766875357

1 SubmittersRCV002663942

NM_000135.4(FANCA):c.97G>T (p.Glu33Ter) SNV
Germline
Chr16:89815969 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397483696 rs_2041101017

3 SubmittersRCV003108462RCV004572846

NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter) SNV
Germline
Chr16:89744984 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485620 rs_2544113674

1 SubmittersRCV002575909

NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter) SNV
Germline
Chr16:89748712 Pathogenic Fanconi anemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8251240 rs_746176365

2 SubmittersRCV002575617RCV004721081

NM_000135.4(FANCA):c.187G>T (p.Glu63Ter) SNV
Germline
Chr16:89815879 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397483198 rs_1282690126

2 SubmittersRCV002583539RCV003465785

NM_000135.4(FANCA):c.1777-17C>G SNV
Germline
Chr16:89778867 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA725724101 rs_1468919595

2 SubmittersRCV002588953RCV005019247

NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu) SNV
Germline
Chr16:89765063 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397438939 rs_1286812517

1 SubmittersRCV002584081

NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr) SNV
Germline
Chr16:89746679 Conflicting classifications of pathogenicity Fanconi anemia
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA8251159 rs_774278686

2 SubmittersRCV002608634RCV003154072

NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly) SNV
Germline
Chr16:89748714 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251241 rs_772633264

2 SubmittersRCV002605263RCV005008665

NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter) SNV
Germline
Chr16:89758581 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA8251417 rs_140823801

1 SubmittersRCV002635377

NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter) SNV
Germline
Chr16:89740022 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397484954 rs_2544088087

1 SubmittersRCV002736642

NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter) SNV
Germline
Chr16:89764959 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397438220 rs_2143288626

1 SubmittersRCV002730606

NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter) SNV
Germline
Chr16:89775775 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397451900 rs_2544213873

1 SubmittersRCV002736130

NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter) SNV
Germline
Chr16:89746620 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485891 rs_2143106071

1 SubmittersRCV002760340

NM_000135.4(FANCA):c.426+2T>C SNV
Germline
Chr16:89810927 Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397480847 rs_1598190568

2 SubmittersRCV002745908RCV005008725

NM_000135.4(FANCA):c.1225+2T>A SNV
Germline
Chr16:89791925 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA8252476 rs_746514288

1 SubmittersRCV002805380

NM_000135.4(FANCA):c.893+1G>C SNV
Germline
Chr16:89799165 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397472730 rs_2040352832

1 SubmittersRCV002801814

NM_000135.4(FANCA):c.464T>A (p.Leu155Ter) SNV
Germline
Chr16:89810765 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397480764 rs_2544362522

1 SubmittersRCV002872067

NM_000135.4(FANCA):c.710-1G>T SNV
Germline
Chr16:89803342 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397476539 rs_1388128874

1 SubmittersRCV002865974

NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn) SNV
Germline
Chr16:89746847 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486076 rs_2143109078

1 SubmittersRCV002886037

NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr) SNV
Germline
Chr16:89738684 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397483114 rs_748856769

1 SubmittersRCV002895821

NM_000135.4(FANCA):c.368A>G (p.Gln123Arg) SNV
Germline
Chr16:89810987 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA286608249 rs_988689175

2 SubmittersRCV002899974RCV005565318

NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln) SNV
Germline
Chr16:89746666 Conflicting classifications of pathogenicity Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8251152 rs_138112218

3 SubmittersRCV002912838RCV003477026RCV005010759

NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter) SNV
Germline
Chr16:89742832 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485338 rs_745665658

1 SubmittersRCV002890069

NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr) SNV
Germline
Chr16:89805345 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8252871 rs_555784791

2 SubmittersRCV002894904RCV005333367

NM_000135.4(FANCA):c.2960C>T (p.Ala987Val) SNV
Germline
Chr16:89758598 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8251421 rs_767606917

2 SubmittersRCV002914687RCV002923000

NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter) SNV
Germline
Chr16:89752220 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA8251385 rs_746997654

1 SubmittersRCV002932892

NM_000135.4(FANCA):c.505G>C (p.Glu169Gln) SNV
Germline
Chr16:89810724 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA8252989 rs_372691338

3 SubmittersRCV003477029RCV002942541RCV003146690

NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter) SNV
Germline
Chr16:89745066 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397485787 rs_758341181

2 SubmittersRCV002966933RCV004572480

NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys) SNV
Germline
Chr16:89749736 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397486431 rs_1285387383

2 SubmittersRCV002967713RCV003250671

NM_000135.4(FANCA):c.792+1G>C SNV
Germline
Chr16:89803258 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397475820 rs_2143615250

2 SubmittersRCV003033612RCV003459701

NM_000135.4(FANCA):c.4168-1G>A SNV
Germline
Chr16:89738975 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397483858 rs_2062047006

1 SubmittersRCV003017434

NM_000135.4(FANCA):c.3349-1G>C SNV
Germline
Chr16:89746891 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486168 rs_769862233

1 SubmittersRCV003034449

NM_000135.4(FANCA):c.1083+1G>A SNV
Germline
Chr16:89792470 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397466552 rs_2544275708

1 SubmittersRCV003043416

NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter) SNV
Germline
Chr16:89782909 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397458019 rs_1274321707

1 SubmittersRCV003047487

NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter) SNV
Germline
Chr16:89778982 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397454869 rs_529199293

1 SubmittersRCV003057189

NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter) SNV
Germline
Chr16:89748747 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486371 rs_376089640

1 SubmittersRCV003048691

NM_000135.4(FANCA):c.462T>A (p.Tyr154Ter) SNV
Germline
Chr16:89810767 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
CA397480768 rs_1598190143

1 SubmittersRCV002722869

NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter) SNV
Germline
Chr16:89767171 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397440487 rs_2039158032

2 SubmittersRCV003155659RCV005021829

NM_000135.4(FANCA):c.628C>T (p.Leu210Phe) SNV
Germline
Chr16:89805361 Conflicting classifications of pathogenicity Ovarian cancer
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA397478124 rs_2143632135

2 SubmittersRCV003154794RCV005021828

NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser) SNV
Germline
Chr16:89784957 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397460218 rs_2544250338

1 SubmittersRCV003232890

NM_000135.4(FANCA):c.1954C>T (p.Gln652Ter) SNV
Germline
Chr16:89773331 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA397450033 rs_2544207517

1 SubmittersRCV003321994

NM_000135.4(FANCA):c.2505-2A>C SNV
Germline
Chr16:89767239 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397441005 rs_2544187460

1 SubmittersRCV003338115

NM_000135.4(FANCA):c.504A>G (p.Gln168=) SNV
Germline
Chr16:89810725 Conflicting classifications of pathogenicity FANCA-related disorder
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA497379561 rs_2040844773

2 SubmittersRCV003402438RCV003636013

NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile) SNV
Germline
Chr16:89742903 Conflicting classifications of pathogenicity FANCA-related disorder
Fanconi anemia
Criteria Provided
Conflicting Classifications
CA397485487 rs_2062171554

2 SubmittersRCV003402549RCV003636014

NM_000135.4(FANCA):c.4167+1G>A SNV
Germline
Chr16:89739132 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
CA397484246 rs_2544078574

2 SubmittersRCV003444397

NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys) SNV
Unknown
Chr16:89791504 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA8252424 rs_760352719

1 SubmittersRCV003460136

NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter) SNV
Unknown
Chr16:89740081 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397485077 rs_2544088649

1 SubmittersRCV003460137

NM_000135.4(FANCA):c.1084-1G>T SNV
Unknown
Chr16:89792069 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397466432 rs_2040094761

1 SubmittersRCV003460138

NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter) SNV
Unknown
Chr16:89748688 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397486245 rs_2544126059

1 SubmittersRCV003460139

NM_000135.4(FANCA):c.3765+1G>A SNV
Unknown
Chr16:89742799 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397485271 rs_2062169124

1 SubmittersRCV003460147

NM_000135.4(FANCA):c.15G>A (p.Trp5Ter) SNV
Unknown
Chr16:89816601 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397484620 rs_2143731999

1 SubmittersRCV003460148

NM_000135.4(FANCA):c.283+2T>C SNV
Germline
Chr16:89814518 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397482408 rs_2544382014

2 SubmittersRCV003460150RCV003523182

NM_000135.4(FANCA):c.1826+2T>C SNV
Unknown
Chr16:89778799 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397454261 rs_2039603867

1 SubmittersRCV003460154

NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter) SNV
Unknown
Chr16:89745067 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397485791 rs_1318931629

1 SubmittersRCV003460155

NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter) SNV
Unknown
Chr16:89752220 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397427538 rs_746997654

1 SubmittersRCV003460157

NM_000135.4(FANCA):c.3514-1G>C SNV
Unknown
Chr16:89745072 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397485800 rs_2143088468

1 SubmittersRCV003460158

NM_000135.4(FANCA):c.522+2T>G SNV
Unknown
Chr16:89810705 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397480627 rs_2143677013

1 SubmittersRCV003460159

NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter) SNV
Unknown
Chr16:89815961 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397483628 rs_747928827

1 SubmittersRCV003468103

NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter) SNV
Unknown
Chr16:89739141 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397484268 rs_1436768029

1 SubmittersRCV003460162

NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter) SNV
Germline
Chr16:89791993 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA397466179 rs_2040091881

3 SubmittersRCV003460164RCV005100158

NM_000135.4(FANCA):c.793-2A>T SNV
Unknown
Chr16:89799640 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397473718 rs_2040372065

1 SubmittersRCV003468108

NM_000135.4(FANCA):c.1006+1G>A SNV
Unknown
Chr16:89795905 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397469754 rs_1555564436

1 SubmittersRCV003468110

NM_000135.4(FANCA):c.80-2A>G SNV
Unknown
Chr16:89815988 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397483840 rs_2544390610

1 SubmittersRCV003460168

NM_000135.4(FANCA):c.226A>T (p.Lys76Ter) SNV
Unknown
Chr16:89814577 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397482544 rs_2143711335

1 SubmittersRCV003460169

NM_000135.4(FANCA):c.1226-2A>C SNV
Unknown
Chr16:89791538 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397464708 rs_773906241

1 SubmittersRCV003460170

NM_000135.4(FANCA):c.627G>A (p.Trp209Ter) SNV
Germline
Chr16:89805362 Pathogenic Fanconi anemia complementation group A
Fanconi anemia
Criteria Provided
Multiple Submitters
No Conflicts
CA286606209 rs_1018067067

3 SubmittersRCV003460172RCV003523183

NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter) SNV
Unknown
Chr16:89765063 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397438938 rs_1286812517

1 SubmittersRCV003468115

NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter) SNV
Unknown
Chr16:89792517 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397466807 rs_2040109989

1 SubmittersRCV003468116

NM_000135.4(FANCA):c.814A>T (p.Arg272Ter) SNV
Germline
Chr16:89799617 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397473520 rs_2544305562

1 SubmittersRCV003523359

NM_000135.4(FANCA):c.736G>T (p.Gly246Ter) SNV
Germline
Chr16:89803315 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397476308 rs_1486237562

1 SubmittersRCV003522219

NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter) SNV
Germline
Chr16:89758626 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA8251435 rs_774146374

3 SubmittersRCV003525343RCV004574110

NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile) SNV
Germline
Chr16:89758698 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA397431581 rs_2544157065

2 SubmittersRCV003523571RCV004574118

NM_000135.4(FANCA):c.2981+13C>T SNV
Germline
Chr16:89758564 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA2635022759 rs_2038838513

2 SubmittersRCV003525358RCV005014782

NM_000135.4(FANCA):c.2014+1G>A SNV
Germline
Chr16:89773270 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397449453 rs_1598116164

1 SubmittersRCV003522702

NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter) SNV
Germline
Chr16:89748697 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486267 rs_1337692923

1 SubmittersRCV003522882

NM_000135.4(FANCA):c.283+2T>G SNV
Germline
Chr16:89814518 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397482407 rs_2544382014

1 SubmittersRCV003522680

NM_000135.4(FANCA):c.16G>T (p.Val6Phe) SNV
Germline
Chr16:89816600 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA397484610 rs_1348835311

2 SubmittersRCV003524853RCV005014807

NM_000135.4(FANCA):c.1360-2A>G SNV
Germline
Chr16:89784966 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397460254 rs_2143477277

1 SubmittersRCV003636101

NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter) SNV
Germline
Chr16:89791942 Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397465976 rs_2143529644

2 SubmittersRCV003636247RCV005014827

NM_000135.4(FANCA):c.1225+2T>G SNV
Germline
Chr16:89791925 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397465873 rs_746514288

1 SubmittersRCV003637136

NM_000135.4(FANCA):c.3066+1G>C SNV
Germline
Chr16:89752137 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397425866 rs_587783028

1 SubmittersRCV003637031

NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter) SNV
Germline
Chr16:89740808 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485135 rs_2544094857

1 SubmittersRCV003637338

NM_000135.4(FANCA):c.1716-2A>G SNV
Germline
Chr16:89779005 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397455036 rs_2143424712

1 SubmittersRCV003637302

NM_000135.4(FANCA):c.827-1G>A SNV
Germline
Chr16:89799233 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA8252727 rs_753728435

1 SubmittersRCV003637641

NM_000135.4(FANCA):c.597-2A>T SNV
Germline
Chr16:89805394 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397478272 rs_2040602804

1 SubmittersRCV003637736

NM_000135.4(FANCA):c.3348+2T>G SNV
Germline
Chr16:89748657 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486172 rs_1483121850

1 SubmittersRCV003635501

NM_000135.4(FANCA):c.793-2A>G SNV
Germline
Chr16:89799640 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397473719 rs_2040372065

1 SubmittersRCV003635530

NM_000135.4(FANCA):c.645C>A (p.Cys215Ter) SNV
Germline
Chr16:89805344 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397478028 rs_1015551647

1 SubmittersRCV003635531

NM_000135.4(FANCA):c.710-1G>A SNV
Germline
Chr16:89803342 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397476530 rs_1388128874

1 SubmittersRCV003635753

NM_000135.4(FANCA):c.2060T>C (p.Val687Ala) SNV
Germline
Chr16:89771769 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397448544 rs_1159267877

2 SubmittersRCV003636441RCV005567599

NM_000135.4(FANCA):c.1715+1G>A SNV
Germline
Chr16:89779868 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397455775 rs_1555552506

1 SubmittersRCV003636747

NM_000135.4(FANCA):c.2464C>T (p.Leu822=) SNV
Germline
Chr16:89769877 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA497379422 rs_2039262153

2 SubmittersRCV003637398RCV005014936

NM_000135.4(FANCA):c.874C>T (p.His292Tyr) SNV
Germline
Chr16:89799185 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA397472893 rs_200220791

3 SubmittersRCV003636882RCV005014934RCV005555032

NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter) SNV
Germline
Chr16:89748692 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397486256 rs_749550737

1 SubmittersRCV003637569

NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter) SNV
Germline
Chr16:89792516 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397466803 rs_750257902

1 SubmittersRCV003822260

NM_000135.4(FANCA):c.3513+1G>C SNV
Germline
Chr16:89746583 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485815 rs_1188082371

1 SubmittersRCV003837647

NM_000135.4(FANCA):c.3766-1G>A SNV
Germline
Chr16:89740867 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485260 rs_2544095343

1 SubmittersRCV003846852

NM_000135.4(FANCA):c.1566+1G>T SNV
Germline
Chr16:89783006 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397458044 rs_2544243344

1 SubmittersRCV003859725

NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter) SNV
Germline
Chr16:89742850 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485378 rs_2143061441

1 SubmittersRCV003861759

NM_000135.4(FANCA):c.3626+2T>G SNV
Germline
Chr16:89744957 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA397485563 rs_2544113550

1 SubmittersRCV003878196

NM_000135.4(FANCA):c.1007-1G>A SNV
Germline
Chr16:89792548 Pathogenic Fanconi anemia
Fanconi anemia complementation group A
Criteria Provided
Multiple Submitters
No Conflicts
CA397467112 rs_2544276097

2 SubmittersRCV003876477RCV005015068

NM_000135.4(FANCA):c.1204G>T (p.Glu402Ter) SNV
Germline
Chr16:89791948 Likely pathogenic FANCA-related disorder No Assertion Criteria Provided
CA397466022 rs_1437697372

1 SubmittersRCV003902177

NM_000135.4(FANCA):c.3348+1G>T SNV
Germline
Chr16:89748658 Pathogenic Fanconi anemia Criteria Provided
Single Submitter
CA286625314 rs_751266148

1 SubmittersRCV004018184

NM_000135.4(FANCA):c.3491C>G (p.Pro1164Arg) SNV
Germline
Chr16:89746606 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group A
Criteria Provided
Conflicting Classifications
CA397485859 rs_2038399117

2 SubmittersRCV004527224RCV005006438

NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter) SNV
Germline
Chr16:89764988 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
CA397438473 rs_2544178386

1 SubmittersRCV004547230

NM_000135.4(FANCA):c.893+2T>A SNV
Germline
Chr16:89799164 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_2544302863

1 SubmittersRCV004557238

NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter) SNV
Unknown
Chr16:89791422 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_149551759

1 SubmittersRCV004576515

NM_000135.4(FANCA):c.2981+1G>T SNV
Unknown
Chr16:89758576 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_1555542860

1 SubmittersRCV004576521

NM_000135.4(FANCA):c.3703C>T (p.Gln1235Ter) SNV
Unknown
Chr16:89742862 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_769919783

1 SubmittersRCV004576522

NM_000135.4(FANCA):c.2223-2A>T SNV
Unknown
Chr16:89770261 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_1255001518

1 SubmittersRCV004576523

NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter) SNV
Unknown
Chr16:89758649 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_2544156828

1 SubmittersRCV004576524

NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter) SNV
Germline
Chr16:89740009 Pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
rs_763626782

2 SubmittersRCV004576526

NM_000135.4(FANCA):c.976C>T (p.Gln326Ter) SNV
Unknown
Chr16:89795936 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_758641682

1 SubmittersRCV004576528

NM_000135.4(FANCA):c.3627-2A>G SNV
Germline
Chr16:89742940 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Multiple Submitters
No Conflicts
rs_2544106209

2 SubmittersRCV004576529

NM_000135.4(FANCA):c.427-1G>A SNV
Unknown
Chr16:89810803 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter
rs_2544362904

1 SubmittersRCV004576535

NM_000135.4(FANCA):c.3G>A (p.Met1Ile) SNV
Germline
Chr16:89816613 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004597422

NM_000135.4(FANCA):c.1064T>C (p.Leu355Pro) SNV
Germline
Chr16:89792490 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004697381

NM_000135.4(FANCA):c.3002C>G (p.Ser1001Ter) SNV
Germline
Chr16:89752202 Likely pathogenic FANCA-related disorder No Assertion Criteria Provided

1 SubmittersRCV004727923

NM_000135.4(FANCA):c.523-1G>C SNV
Germline
Chr16:89808368 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV004764305

NM_000135.4(FANCA):c.3494T>G (p.Leu1165Ter) SNV
Germline
Chr16:89746603 Pathogenic Fanconi anemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004800177

NM_000135.4(FANCA):c.3563A>G (p.His1188Arg) SNV
Germline
Chr16:89745022 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017913RCV005336028

NM_000135.4(FANCA):c.3348+2T>C SNV
Germline
Chr16:89748657 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005010088

NM_000135.4(FANCA):c.2852+1G>A SNV
Germline
Chr16:89761948 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017939

NM_000135.4(FANCA):c.2852G>T (p.Arg951Leu) SNV
Germline
Chr16:89761949 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017940

NM_000135.4(FANCA):c.2787C>G (p.Tyr929Ter) SNV
Germline
Chr16:89762014 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017943

NM_000135.4(FANCA):c.2778+65C>T SNV
Germline
Chr16:89764825 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
not specified
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017944RCV005435477

NM_000135.4(FANCA):c.2335C>T (p.Pro779Ser) SNV
Germline
Chr16:89770006 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017959RCV005336032

NM_000135.4(FANCA):c.2074G>T (p.Glu692Ter) SNV
Germline
Chr16:89771755 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017969

NM_000135.4(FANCA):c.1901-1G>T SNV
Germline
Chr16:89773385 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017974

NM_000135.4(FANCA):c.1715+2T>G SNV
Germline
Chr16:89779867 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017984

NM_000135.4(FANCA):c.1471-2A>G SNV
Germline
Chr16:89783104 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005017991

NM_000135.4(FANCA):c.1084-1G>C SNV
Germline
Chr16:89792069 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005018005

NM_000135.4(FANCA):c.538G>T (p.Glu180Ter) SNV
Germline
Chr16:89808352 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005018018

NM_000135.4(FANCA):c.338C>G (p.Ser113Ter) SNV
Germline
Chr16:89811017 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005010099

NM_000135.4(FANCA):c.215T>A (p.Leu72Ter) SNV
Germline
Chr16:89814588 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005010103

NM_000135.4(FANCA):c.133G>T (p.Glu45Ter) SNV
Germline
Chr16:89815933 Pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005010107

NM_000135.4(FANCA):c.37C>T (p.Gln13Ter) SNV
Germline
Chr16:89816579 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005010111

NM_000135.4(FANCA):c.1635C>T (p.Ser545=) SNV
Germline
Chr16:89779949 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004999116RCV005336007

NM_000135.4(FANCA):c.105T>G (p.Tyr35Ter) SNV
Germline
Chr16:89815961 Pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV005073137

NM_000135.4(FANCA):c.1197C>A (p.Cys399Ter) SNV
Germline
Chr16:89791955 Pathogenic Fanconi anemia Criteria Provided
Single Submitter

2 SubmittersRCV005122809

NM_000135.4(FANCA):c.1716-1G>A SNV
Germline
Chr16:89779004 Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV005159919

NM_000135.4(FANCA):c.1827-1G>T SNV
Germline
Chr16:89775816 Pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV005202283

NM_000135.4(FANCA):c.3673C>G (p.Leu1225Val) SNV
Germline
Chr16:89742892 Conflicting classifications of pathogenicity Fanconi anemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005197847RCV005559915

NM_000135.4(FANCA):c.2223-138A>G SNV
Germline
Chr16:89770397 Pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV005237062

NM_000135.4(FANCA):c.619G>T (p.Gly207Ter) SNV
Germline
Chr16:89805370 Pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV005238284

NM_000135.4(FANCA):c.1464C>A (p.Tyr488Ter) SNV
Germline
Chr16:89784860 Pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV005240184

NM_000135.4(FANCA):c.2888T>C (p.Phe963Ser) SNV
Germline
Chr16:89758670 Likely pathogenic Fanconi anemia complementation group A Criteria Provided
Single Submitter

1 SubmittersRCV005416812

NM_000135.4(FANCA):c.596+1G>T SNV
Germline
Chr16:89808293 Likely pathogenic Fanconi anemia No Assertion Criteria Provided

1 SubmittersRCV005613572

NM_000135.4(FANCA):c.2470T>C (p.Cys824Arg) SNV
Germline
Chr16:89769871 Likely pathogenic Fanconi anemia No Assertion Criteria Provided

1 SubmittersRCV005619772