| - GRCh37:
- Chr11:35685126-46981371
- GRCh38:
- Chr11:35663578-46959820
| ACCS, ACCSL, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARHGAP1, ATG13, C11orf94, C11orf96, CD82, CHRM4, CHST1, CKAP5, COMMD9, CREB3L1, CRY2, CSTPP1, DGKZ, EXT2, F2, HARBI1, HSD17B12, IFTAP, LARGE2, LDLRAD3, LINC01493, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LINC02759, LINC02760, LOC100507384, LOC101928510, LOC101928894, LOC110121482, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC113939922, LOC116216135, LOC116216136, LOC121392908, LOC121392909, LOC121392910, LOC121832790, LOC121832791, LRP4, LRP4-AS1, LRRC4C, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3973, MIR4688, MIR5582, MIR670, MIR670HG, MIR7154, PEX16, PHF21A, PRDM11, PRR5L, RAG1, RAG2, SLC35C1, SNORD67, SYT13, TP53I11, TRAF6, TRIM44, TSPAN18, TTC17, ZNF408 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:39200802-49157287
- GRCh38:
- Chr11:39179252-49135735
| ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408 | | See cases | Pathogenic
(Apr 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:41139872-48664555
- GRCh38:
- Chr11:41118322-48643003
| ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SNORD67, SPI1, SYT13, TP53I11, TSPAN18, TTC17, ZNF408 | | See cases | Pathogenic
(Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr11:42749105-49157287
- GRCh38:
- Chr11:42727555-49135735
| ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LRP4, LRP4-AS1, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408 | | See cases | Likely pathogenic
(Aug 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:46442505-46749922
- GRCh38:
- Chr11:46420955-46728372
| AMBRA1, ARHGAP1, ATG13, F2, HARBI1, MIR3160-1, MIR3160-2, ZNF408 | | See cases | Uncertain significance
(Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:46740830
- GRCh38:
- Chr11:46719280
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46740871
- GRCh38:
- Chr11:46719321
| F2 | | not specified, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency,
not provided | Benign/Likely benign
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:46741270
- GRCh38:
- Chr11:46719720
| F2 | Q33P | not provided | Uncertain significance
(May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46741290
- GRCh38:
- Chr11:46719740
| F2 | R40W | not provided | Uncertain significance
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46741339
- GRCh38:
- Chr11:46719789
| F2 | L56P | Inborn genetic diseases | Uncertain significance
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46741352
- GRCh38:
- Chr11:46719802
| F2 | | Congenital prothrombin deficiency | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46741363
- GRCh38:
- Chr11:46719813
| F2 | T64M | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect
| Uncertain significance
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:46741406
- GRCh38:
- Chr11:46719856
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46741495
- GRCh38:
- Chr11:46719945
| F2 | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46741908
- GRCh38:
- Chr11:46720358
| F2 | | not provided | Benign
(Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46742092
- GRCh38:
- Chr11:46720542
| F2 | Y87C | Coagulation factor deficiency syndrome | Likely pathogenic
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46742249
- GRCh38:
- Chr11:46720699
| F2 | | not provided | Benign
(Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46742358
- GRCh38:
- Chr11:46720808
| F2 | T95M | Inborn genetic diseases | Uncertain significance
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46742359
- GRCh38:
- Chr11:46720809
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46742426
- GRCh38:
- Chr11:46720876
| F2 | | not provided | Benign
(Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46742489
- GRCh38:
- Chr11:46720939
| F2 | | not provided | Benign
(Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744470
- GRCh38:
- Chr11:46722920
| F2 | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744528
- GRCh38:
- Chr11:46722978
| F2 | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744726
- GRCh38:
- Chr11:46723176
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46744768-46744769
- GRCh38:
- Chr11:46723218-46723219
| F2 | H119fs | F2-Related Disorders | Uncertain significance
(Nov 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744784
- GRCh38:
- Chr11:46723234
| F2 | R124Q | Congenital prothrombin deficiency | Uncertain significance
(Mar 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744925
- GRCh38:
- Chr11:46723375
| F2 | | not specified, not provided, Thrombophilia due to thrombin defect,
Congenital prothrombin deficiency | Benign/Likely benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:46744941
- GRCh38:
- Chr11:46723391
| F2 | | not provided | Likely benign
(Apr 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744948
- GRCh38:
- Chr11:46723398
| F2 | H147D | Inborn genetic diseases | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744958
- GRCh38:
- Chr11:46723408
| F2 | A150V | Inborn genetic diseases | Uncertain significance
(Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46744971-46744972
- GRCh38:
- Chr11:46723421-46723422
| F2 | N155* | Congenital prothrombin deficiency | Pathogenic
(Jun 20, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:46744989
- GRCh38:
- Chr11:46723439
| F2 | | not specified, not provided, Thrombophilia due to thrombin defect,
Congenital prothrombin deficiency | Benign/Likely benign
(May 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:46745003
- GRCh38:
- Chr11:46723453
| F2 | T165M | not specified, not provided, Thrombophilia due to thrombin defect,
Congenital prothrombin deficiency | Benign/Likely benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:46745004
- GRCh38:
- Chr11:46723454
| F2 | | not provided, Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
| Conflicting interpretations of pathogenicity
(Mar 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46745043
- GRCh38:
- Chr11:46723493
| F2 | | Inborn genetic diseases | Likely benign
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46745073
- GRCh38:
- Chr11:46723523
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747447
- GRCh38:
- Chr11:46725897
| F2 | E200K | not provided, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency,
Cerebral palsy | Conflicting interpretations of pathogenicity; risk factor
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46747456
- GRCh38:
- Chr11:46725906
| F2 | S203G | Congenital prothrombin deficiency | Uncertain significance
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747499
- GRCh38:
- Chr11:46725949
| F2 | R217Q | not provided | Uncertain significance
(Dec 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747519
- GRCh38:
- Chr11:46725969
| F2 | R224C | not provided | Uncertain significance
(Oct 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747548
- GRCh38:
- Chr11:46725998
| F2 | | Inborn genetic diseases | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747575
- GRCh38:
- Chr11:46726025
| F2 | | Inborn genetic diseases | Likely benign
(Oct 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747579
- GRCh38:
- Chr11:46726029
| F2 | A244S | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747583
- GRCh38:
- Chr11:46726033
| F2 | L245fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr11:46747647
- GRCh38:
- Chr11:46726097
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46747662
- GRCh38:
- Chr11:46726112
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46747663
- GRCh38:
- Chr11:46726113
| F2 | V272M | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747692
- GRCh38:
- Chr11:46726142
| F2 | | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect
| Conflicting interpretations of pathogenicity
(Apr 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46747736
- GRCh38:
- Chr11:46726186
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Jan 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46747979
- GRCh38:
- Chr11:46726429
| F2 | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748055
- GRCh38:
- Chr11:46726505
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748088
- GRCh38:
- Chr11:46726538
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748113
- GRCh38:
- Chr11:46726563
| F2 | R314S | Inborn genetic diseases | Uncertain significance
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748113
- GRCh38:
- Chr11:46726563
| F2 | R314C | Congenital prothrombin deficiency | Pathogenic
(Nov 15, 1986) | no assertion criteria provided |
| - GRCh37:
- Chr11:46748114
- GRCh38:
- Chr11:46726564
| F2 | R314H | Prolonged prothrombin time | Likely pathogenic
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748127
- GRCh38:
- Chr11:46726577
| F2 | S318R | Congenital prothrombin deficiency | Uncertain significance
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748151
- GRCh38:
- Chr11:46726601
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748165
- GRCh38:
- Chr11:46726615
| F2 | S331L | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748166
- GRCh38:
- Chr11:46726616
| F2 | | Inborn genetic diseases | Likely benign
(Aug 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748168
- GRCh38:
- Chr11:46726618
| F2 | G332A | Congenital prothrombin deficiency | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748284
- GRCh38:
- Chr11:46726734
| F2 | E343K | Congenital prothrombin deficiency | Pathogenic
(Jan 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr11:46748285-46748287
- GRCh38:
- Chr11:46726735-46726737
| F2 | K345del | Prolonged prothrombin time | Likely pathogenic
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748294
- GRCh38:
- Chr11:46726744
| F2 | S346L | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748311
- GRCh38:
- Chr11:46726761
| F2 | E352K | Congenital prothrombin deficiency | Pathogenic
(Jan 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr11:46748327
- GRCh38:
- Chr11:46726777
| F2 | E357G | Congenital prothrombin deficiency | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46748351
- GRCh38:
- Chr11:46726801
| F2 | V365E | Congenital prothrombin deficiency | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:46748360
- GRCh38:
- Chr11:46726810
| F2 | S368L | Inborn genetic diseases | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749234
- GRCh38:
- Chr11:46727684
| F2 | | not provided | Benign
(Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749246
- GRCh38:
- Chr11:46727696
| F2 | | not provided | Benign
(Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749334
- GRCh38:
- Chr11:46727784
| F2 | | not provided | Benign
(May 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749541
- GRCh38:
- Chr11:46727991
| F2 | | Congenital prothrombin deficiency | Uncertain significance
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749554
- GRCh38:
- Chr11:46728004
| F2 | M380T | Congenital prothrombin deficiency | Pathogenic
(Nov 1, 1992) | no assertion criteria provided |
| - GRCh37:
- Chr11:46749574
- GRCh38:
- Chr11:46728024
| F2 | Q387* | not provided | Likely pathogenic
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749624
- GRCh38:
- Chr11:46728074
| F2 | | Inborn genetic diseases | Likely benign
(May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749627
- GRCh38:
- Chr11:46728077
| F2 | | not provided | Likely benign
(Oct 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749648
- GRCh38:
- Chr11:46728098
| F2 | | not specified, not provided, Thrombophilia due to thrombin defect,
Congenital prothrombin deficiency | Benign/Likely benign
(Nov 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:46749669
- GRCh38:
- Chr11:46728119
| F2 | | Inborn genetic diseases | Likely benign
(Sep 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749685
- GRCh38:
- Chr11:46728135
| F2 | V424M | Congenital prothrombin deficiency | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46749688
- GRCh38:
- Chr11:46728138
| F2 | R425C | Congenital prothrombin deficiency | Pathogenic
(Apr 1, 1992) | no assertion criteria provided |
| - GRCh37:
- Chr11:46749689
- GRCh38:
- Chr11:46728139
| F2 | R425H | Congenital prothrombin deficiency | Pathogenic
(Aug 15, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr11:46749707
- GRCh38:
- Chr11:46728157
| F2 | R431H | DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II | Pathogenic
(Nov 1, 1992) | no assertion criteria provided |
| - GRCh37:
- Chr11:46749724
- GRCh38:
- Chr11:46728174
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46749732
- GRCh38:
- Chr11:46728182
| F2 | | Thrombophilia due to thrombin defect | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750064
- GRCh38:
- Chr11:46728514
| F2 | | not provided | Benign
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750204
- GRCh38:
- Chr11:46728654
| F2 | | not provided | Likely benign
(Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750296
- GRCh38:
- Chr11:46728746
| F2 | R461W | Congenital prothrombin deficiency | Pathogenic
(Jun 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr11:46750308
- GRCh38:
- Chr11:46728758
| F2 | | not provided | Likely benign
(Nov 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750340
- GRCh38:
- Chr11:46728790
| F2 | | Inborn genetic diseases | Likely benign
(Mar 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750379
- GRCh38:
- Chr11:46728829
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:46750396
- GRCh38:
- Chr11:46728846
| F2 | | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750534
- GRCh38:
- Chr11:46728984
| F2 | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750638
- GRCh38:
- Chr11:46729088
| F2 | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750819
- GRCh38:
- Chr11:46729269
| F2 | | not provided | Benign
(Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750926-46750927
- GRCh38:
- Chr11:46729376-46729377
| F2 | | Inborn genetic diseases | Uncertain significance
(Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750953
- GRCh38:
- Chr11:46729403
| F2 | G499E | Congenital prothrombin deficiency | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46750998
- GRCh38:
- Chr11:46729448
| F2 | N514S | Thrombophilia due to thrombin defect, Congenital prothrombin deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46751000
- GRCh38:
- Chr11:46729450
| F2 | V515I | Inborn genetic diseases | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46751024
- GRCh38:
- Chr11:46729474
| F2 | | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46751038
- GRCh38:
- Chr11:46729488
| F2 | | Inborn genetic diseases | Likely benign
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:46751055
- GRCh38:
- Chr11:46729505
| F2 | R533Q | not provided, Congenital prothrombin deficiency | Uncertain significance
(Apr 28, 2021) | criteria provided, multiple submitters, no conflicts |