| NM_000129.4(F13A1):c.603_606del (p.Arg202fs) |
microsatellite |
Factor XIII, A subunit, deficiency of [RCV000022541] |
Chr6:6250895..6250898 [GRCh38]
Chr6:6251128..6251131 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.131_132del |
microsatellite |
Factor XIII, A subunit, deficiency of [RCV000017987] |
Chr6:6305538..6305539 [GRCh38]
Chr6:6305771..6305772 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1201dup (p.Gln401fs) |
duplication |
Factor XIII, A subunit, deficiency of [RCV000018001] |
Chr6:6197237..6197238 [GRCh38]
Chr6:6197470..6197471 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.691-1G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000018002]|not provided [RCV002284178] |
Chr6:6248420 [GRCh38]
Chr6:6248653 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.-19+12= |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000022542] |
Chr6:6320575 [GRCh38]
Chr6:6320808 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.2045G>A (p.Arg682His) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017988] |
Chr6:6151813 [GRCh38]
Chr6:6152046 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.514C>T (p.Arg172Ter) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017989] |
Chr6:6266615 [GRCh38]
Chr6:6266848 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017990] |
Chr6:6182121 [GRCh38]
Chr6:6182354 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.183C>A (p.Asn61Lys) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017991] |
Chr6:6305487 [GRCh38]
Chr6:6305720 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017992]|not specified [RCV002468971] |
Chr6:6174823 [GRCh38]
Chr6:6175056 [GRCh37]
Chr6:6p25.1 |
pathogenic|uncertain significance |
| NM_000129.4(F13A1):c.1687G>A (p.Gly563Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017993] |
Chr6:6174640 [GRCh38]
Chr6:6174873 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1243G>T (p.Val415Phe) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017994] |
Chr6:6195859 [GRCh38]
Chr6:6196092 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.782G>A (p.Arg261His) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017995] |
Chr6:6248328 [GRCh38]
Chr6:6248561 [GRCh37]
Chr6:6p25.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000129.4(F13A1):c.103G>T (p.Val35Leu) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000374698]|Myocardial infarction, protection against [RCV000017996]|Venous thrombosis, protection against [RCV000017997]|not provided [RCV000998517]|not specified [RCV000248039] |
Chr6:6318562 [GRCh38]
Chr6:6318795 [GRCh37]
Chr6:6p25.1 |
benign|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance |
| NM_000129.4(F13A1):c.980G>A (p.Arg327Gln) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017998]|not provided [RCV003325450] |
Chr6:6222165 [GRCh38]
Chr6:6222398 [GRCh37]
Chr6:6p25.1 |
pathogenic|likely pathogenic |
| NM_000129.4(F13A1):c.949G>T (p.Val317Phe) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000017999] |
Chr6:6224710 [GRCh38]
Chr6:6224943 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.851A>G (p.Tyr284Cys) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000018000] |
Chr6:6224808 [GRCh38]
Chr6:6225041 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000018003] |
Chr6:6145708 [GRCh38]
Chr6:6145941 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter) |
single nucleotide variant |
F13A1-related condition [RCV003415716]|Factor XIII, A subunit, deficiency of [RCV000018004] |
Chr6:6151874 [GRCh38]
Chr6:6152107 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.728T>C (p.Met243Thr) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000018005] |
Chr6:6248382 [GRCh38]
Chr6:6248615 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 |
copy number gain |
See cases [RCV000051896] |
Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23 |
pathogenic |
| GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 |
copy number gain |
See cases [RCV000051869] |
Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3 |
pathogenic |
| GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 |
copy number loss |
See cases [RCV000052163] |
Chr6:164633..6284237 [GRCh38]
Chr6:164633..6284470 [GRCh37]
Chr6:109633..6229469 [NCBI36]
Chr6:6p25.3-25.1 |
pathogenic |
| GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 |
copy number loss |
See cases [RCV000052165] |
Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3 |
pathogenic |
| GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 |
copy number loss |
See cases [RCV000052177] |
Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3 |
pathogenic |
| GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] |
Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3 |
pathogenic |
| NM_000129.3(F13A1):c.595G>A (p.Glu199Lys) |
single nucleotide variant |
Malignant melanoma [RCV000067431] |
Chr6:6250906 [GRCh38]
Chr6:6251139 [GRCh37]
Chr6:6196138 [NCBI36]
Chr6:6p25.1 |
not provided |
| NM_000129.3(F13A1):c.236G>A (p.Arg79Lys) |
single nucleotide variant |
Malignant melanoma [RCV000067432] |
Chr6:6305434 [GRCh38]
Chr6:6305667 [GRCh37]
Chr6:6250666 [NCBI36]
Chr6:6p25.1 |
not provided |
| NM_000129.3(F13A1):c.211G>A (p.Glu71Lys) |
single nucleotide variant |
Malignant melanoma [RCV000067433] |
Chr6:6305459 [GRCh38]
Chr6:6305692 [GRCh37]
Chr6:6250691 [NCBI36]
Chr6:6p25.1 |
not provided |
| NM_000129.3(F13A1):c.1576G>A (p.Glu526Lys) |
single nucleotide variant |
Malignant melanoma [RCV000061465] |
Chr6:6174751 [GRCh38]
Chr6:6174984 [GRCh37]
Chr6:6119983 [NCBI36]
Chr6:6p25.1 |
not provided |
| GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 |
copy number gain |
See cases [RCV000134022] |
Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1 |
pathogenic |
| GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 |
copy number gain |
See cases [RCV000136567] |
Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3 |
pathogenic |
| GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 |
copy number loss |
See cases [RCV000136132] |
Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1 |
pathogenic |
| GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 |
copy number gain |
See cases [RCV000138121] |
Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3 |
likely benign |
| GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 |
copy number gain |
See cases [RCV000138956] |
Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33 |
pathogenic |
| GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 |
copy number gain |
See cases [RCV000140307] |
Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3 |
pathogenic |
| GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 |
copy number gain |
See cases [RCV000142295] |
Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2 |
likely pathogenic |
| GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 |
copy number loss |
See cases [RCV000142299] |
Chr6:156974..7122759 [GRCh38]
Chr6:156974..7122992 [GRCh37]
Chr6:101974..7067991 [NCBI36]
Chr6:6p25.3-24.3 |
pathogenic |
| GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 |
copy number loss |
See cases [RCV000142435] |
Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3 |
pathogenic |
| GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 |
copy number loss |
See cases [RCV000142916] |
Chr6:152634..6289804 [GRCh38]
Chr6:152634..6290037 [GRCh37]
Chr6:97634..6235036 [NCBI36]
Chr6:6p25.3-25.1 |
pathogenic |
| GRCh38/hg38 6p25.1(chr6:6163258-6766313)x3 |
copy number gain |
See cases [RCV000143100] |
Chr6:6163258..6766313 [GRCh38]
Chr6:6163491..6766546 [GRCh37]
Chr6:6108490..6711545 [NCBI36]
Chr6:6p25.1 |
uncertain significance |
| GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 |
copy number gain |
See cases [RCV000143334] |
Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23 |
pathogenic |
| GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 |
copy number gain |
See cases [RCV000143698] |
Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1 |
likely pathogenic |
| GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 |
copy number loss |
See cases [RCV000143782] |
Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23 |
pathogenic |
| GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 |
copy number gain |
See cases [RCV000143497] |
Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3 |
pathogenic |
| NM_000129.4(F13A1):c.1817del (p.His606fs) |
deletion |
Factor XIII, A subunit, deficiency of [RCV000754780] |
Chr6:6167549 [GRCh38]
Chr6:6167782 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.*619C>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000268274] |
Chr6:6145000 [GRCh38]
Chr6:6145233 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.996A>C (p.Pro332=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000326873]|not provided [RCV001651102]|not specified [RCV000249062] |
Chr6:6222149 [GRCh38]
Chr6:6222382 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.1954G>C (p.Glu652Gln) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000390947]|not provided [RCV001696188]|not specified [RCV000244287] |
Chr6:6151904 [GRCh38]
Chr6:6152137 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 |
copy number loss |
See cases [RCV000240433] |
Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1 |
pathogenic |
| GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 |
copy number loss |
See cases [RCV000240475] |
Chr6:204009..6447311 [GRCh37]
Chr6:6p25.3-25.1 |
pathogenic |
| GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 |
copy number loss |
See cases [RCV000240576] |
Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3 |
pathogenic |
| NM_000129.4(F13A1):c.1951G>A (p.Val651Ile) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000297230]|not provided [RCV001640466]|not specified [RCV000252406] |
Chr6:6151907 [GRCh38]
Chr6:6152140 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.1704A>G (p.Glu568=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000302214]|not specified [RCV000247654] |
Chr6:6174623 [GRCh38]
Chr6:6174856 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000366204]|not provided [RCV000998515]|not specified [RCV000242868] |
Chr6:6174633 [GRCh38]
Chr6:6174866 [GRCh37]
Chr6:6p25.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000129.4(F13A1):c.1112+17A>G |
single nucleotide variant |
not specified [RCV000252783] |
Chr6:6222016 [GRCh38]
Chr6:6222249 [GRCh37]
Chr6:6p25.1 |
benign |
| GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 |
copy number gain |
See cases [RCV000240460] |
Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| NM_000129.4(F13A1):c.799-13C>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000332743]|not specified [RCV003323522] |
Chr6:6224873 [GRCh38]
Chr6:6225106 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*126T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000343622]|not provided [RCV001707679] |
Chr6:6145493 [GRCh38]
Chr6:6145726 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.*587G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000322930] |
Chr6:6145032 [GRCh38]
Chr6:6145265 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.2067C>T (p.Thr689=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000300905] |
Chr6:6145751 [GRCh38]
Chr6:6145984 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.-19+12A>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000400235]|not provided [RCV001618649]|not specified [RCV001530029] |
Chr6:6320575 [GRCh38]
Chr6:6320808 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.2029A>G (p.Met677Val) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000336928]|Inborn genetic diseases [RCV002523572] |
Chr6:6151829 [GRCh38]
Chr6:6152062 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1112+11T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000271627] |
Chr6:6222022 [GRCh38]
Chr6:6222255 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*160G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000288686]|not provided [RCV001653709] |
Chr6:6145459 [GRCh38]
Chr6:6145692 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.*67C>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000349956] |
Chr6:6145552 [GRCh38]
Chr6:6145785 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*270C>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000328812] |
Chr6:6145349 [GRCh38]
Chr6:6145582 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*443G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000377527] |
Chr6:6145176 [GRCh38]
Chr6:6145409 [GRCh37]
Chr6:6p25.1 |
likely benign|uncertain significance |
| NM_000129.4(F13A1):c.*112G>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000400707] |
Chr6:6145507 [GRCh38]
Chr6:6145740 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.*995G>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000408380] |
Chr6:6144624 [GRCh38]
Chr6:6144857 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.*927G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000356958] |
Chr6:6144692 [GRCh38]
Chr6:6144925 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*221G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000383445] |
Chr6:6145398 [GRCh38]
Chr6:6145631 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.889G>A (p.Val297Ile) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000277737] |
Chr6:6224770 [GRCh38]
Chr6:6225003 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*89A>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000295018] |
Chr6:6145530 [GRCh38]
Chr6:6145763 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.*743G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000262390] |
Chr6:6144876 [GRCh38]
Chr6:6145109 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.102C>T (p.Gly34=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000279340] |
Chr6:6318563 [GRCh38]
Chr6:6318796 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1860G>C (p.Leu620=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000361339] |
Chr6:6167506 [GRCh38]
Chr6:6167739 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.160T>A (p.Phe54Ile) |
single nucleotide variant |
F13A1-related condition [RCV003902392]|Factor XIII, A subunit, deficiency of [RCV000338721]|not provided [RCV000957863] |
Chr6:6305510 [GRCh38]
Chr6:6305743 [GRCh37]
Chr6:6p25.1 |
benign|likely benign|uncertain significance |
| NM_000129.4(F13A1):c.*945T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000311525] |
Chr6:6144674 [GRCh38]
Chr6:6144907 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*1030G>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000369851] |
Chr6:6144589 [GRCh38]
Chr6:6144822 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1731G>C (p.Thr577=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000265829] |
Chr6:6174596 [GRCh38]
Chr6:6174829 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*417G>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000283114] |
Chr6:6145202 [GRCh38]
Chr6:6145435 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.-18-5dup |
duplication |
Factor XIII, A subunit, deficiency of [RCV000334357] |
Chr6:6318686..6318687 [GRCh38]
Chr6:6318919..6318920 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1135G>C (p.Ala379Pro) |
single nucleotide variant |
not specified [RCV002283436] |
Chr6:6197304 [GRCh38]
Chr6:6197537 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*1167T>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000315402] |
Chr6:6144452 [GRCh38]
Chr6:6144685 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.990A>T (p.Gly330=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000381535] |
Chr6:6222155 [GRCh38]
Chr6:6222388 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.327C>T (p.Tyr109=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000293083] |
Chr6:6266802 [GRCh38]
Chr6:6267035 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.-28G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000303944] |
Chr6:6320596 [GRCh38]
Chr6:6320829 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*628G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000317610] |
Chr6:6144991 [GRCh38]
Chr6:6145224 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*627G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000353620] |
Chr6:6144992 [GRCh38]
Chr6:6145225 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*42G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000390945] |
Chr6:6145577 [GRCh38]
Chr6:6145810 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.826C>T (p.Leu276Phe) |
single nucleotide variant |
not provided [RCV002284327] |
Chr6:6224833 [GRCh38]
Chr6:6225066 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 |
copy number gain |
See cases [RCV000446145] |
Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 |
copy number gain |
See cases [RCV000445742] |
Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1 |
copy number loss |
See cases [RCV000511093] |
Chr6:156974..6417749 [GRCh37]
Chr6:6p25.3-25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1538T>A (p.Met513Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003246238] |
Chr6:6174789 [GRCh38]
Chr6:6175022 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.2066C>T (p.Thr689Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003253114] |
Chr6:6145752 [GRCh38]
Chr6:6145985 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1112+1G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003313841] |
Chr6:6222032 [GRCh38]
Chr6:6222265 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 |
copy number gain |
not provided [RCV000682628] |
Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23 |
pathogenic |
| GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 |
copy number gain |
not provided [RCV000682629] |
Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 |
copy number gain |
not provided [RCV000682633] |
Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3 |
likely pathogenic |
| GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 |
copy number loss |
not provided [RCV000682638] |
Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3 |
pathogenic |
| NM_000129.4(F13A1):c.1352_1353del (p.His451fs) |
deletion |
Factor XIII, A subunit, deficiency of [RCV000714480] |
Chr6:6182094..6182095 [GRCh38]
Chr6:6182327..6182328 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| Single allele |
duplication |
not provided [RCV000677944] |
Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000851722]|not provided [RCV000998514]|not specified [RCV002249471] |
Chr6:6167589 [GRCh38]
Chr6:6167822 [GRCh37]
Chr6:6p25.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000129.4(F13A1):c.888C>G (p.Ser296Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000851910] |
Chr6:6224771 [GRCh38]
Chr6:6225004 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_000129.4(F13A1):c.1217-24C>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001702223]|not provided [RCV001662972] |
Chr6:6195909 [GRCh38]
Chr6:6196142 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1909-288T>A |
single nucleotide variant |
not provided [RCV001611556] |
Chr6:6152237 [GRCh38]
Chr6:6152470 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1217-23C>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001702933]|not provided [RCV001611337] |
Chr6:6195908 [GRCh38]
Chr6:6196141 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.857A>G (p.Tyr286Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003267129] |
Chr6:6224802 [GRCh38]
Chr6:6225035 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001164367]|Thrombophilia due to thrombin defect [RCV002249746]|not specified [RCV003323801] |
Chr6:6197255 [GRCh38]
Chr6:6197488 [GRCh37]
Chr6:6p25.1 |
pathogenic|benign|likely benign|uncertain significance |
| NM_000129.4(F13A1):c.1113-234A>G |
single nucleotide variant |
not provided [RCV001640834] |
Chr6:6197560 [GRCh38]
Chr6:6197793 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1909-226G>T |
single nucleotide variant |
not provided [RCV001667220] |
Chr6:6152175 [GRCh38]
Chr6:6152408 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1908+130_1908+132del |
deletion |
not provided [RCV001641474] |
Chr6:6167326..6167328 [GRCh38]
Chr6:6167559..6167561 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1747+168_1747+170dup |
duplication |
not provided [RCV001692549] |
Chr6:6174409..6174410 [GRCh38]
Chr6:6174642..6174643 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.*428C>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001164254] |
Chr6:6145191 [GRCh38]
Chr6:6145424 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1689G>A (p.Gly563=) |
single nucleotide variant |
F13A1-related condition [RCV003920587]|Factor XIII, A subunit, deficiency of [RCV001164365]|not provided [RCV000883198] |
Chr6:6174638 [GRCh38]
Chr6:6174871 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162333]|not provided [RCV000968459] |
Chr6:6167600 [GRCh38]
Chr6:6167833 [GRCh37]
Chr6:6p25.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000129.4(F13A1):c.1652C>T (p.Thr551Ile) |
single nucleotide variant |
F13A1-related condition [RCV003910716]|not provided [RCV000899313] |
Chr6:6174675 [GRCh38]
Chr6:6174908 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1152T>C (p.Pro384=) |
single nucleotide variant |
not provided [RCV000943755] |
Chr6:6197287 [GRCh38]
Chr6:6197520 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1731G>A (p.Thr577=) |
single nucleotide variant |
not provided [RCV000976768] |
Chr6:6174596 [GRCh38]
Chr6:6174829 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.691-6A>G |
single nucleotide variant |
not provided [RCV000898157] |
Chr6:6248425 [GRCh38]
Chr6:6248658 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1620C>T (p.Phe540=) |
single nucleotide variant |
F13A1-related condition [RCV003910531]|not provided [RCV000888701] |
Chr6:6174707 [GRCh38]
Chr6:6174940 [GRCh37]
Chr6:6p25.1 |
benign|likely benign |
| NM_000129.4(F13A1):c.1032T>C (p.Asp344=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001164368]|not provided [RCV000886575] |
Chr6:6222113 [GRCh38]
Chr6:6222346 [GRCh37]
Chr6:6p25.1 |
benign|uncertain significance |
| NM_000129.4(F13A1):c.741A>G (p.Gln247=) |
single nucleotide variant |
not provided [RCV000943073] |
Chr6:6248369 [GRCh38]
Chr6:6248602 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.572-5T>C |
single nucleotide variant |
not provided [RCV000797931] |
Chr6:6250934 [GRCh38]
Chr6:6251167 [GRCh37]
Chr6:6p25.1 |
likely benign|uncertain significance |
| NM_000129.4(F13A1):c.563G>T (p.Trp188Leu) |
single nucleotide variant |
Hereditary factor XIII deficiency disease [RCV000785755] |
Chr6:6266566 [GRCh38]
Chr6:6266799 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.*606T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001164253] |
Chr6:6145013 [GRCh38]
Chr6:6145246 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001164366]|Inborn genetic diseases [RCV002559576]|not specified [RCV003490094] |
Chr6:6174835 [GRCh38]
Chr6:6175068 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.88G>A (p.Val30Met) |
single nucleotide variant |
not provided [RCV000816897] |
Chr6:6318577 [GRCh38]
Chr6:6318810 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 |
copy number loss |
not provided [RCV001005768] |
Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3 |
pathogenic |
| GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 |
copy number gain |
not provided [RCV000848108] |
Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| NM_000129.4(F13A1):c.*934G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162235] |
Chr6:6144685 [GRCh38]
Chr6:6144918 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1748-7C>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162335] |
Chr6:6167625 [GRCh38]
Chr6:6167858 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1107A>G (p.Ser369=) |
single nucleotide variant |
not provided [RCV000998516] |
Chr6:6222038 [GRCh38]
Chr6:6222271 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000851743] |
Chr6:6305437 [GRCh38]
Chr6:6305670 [GRCh37]
Chr6:6p25.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV000852055] |
Chr6:6167562 [GRCh38]
Chr6:6167795 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.*1253T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160610] |
Chr6:6144366 [GRCh38]
Chr6:6144599 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1080C>T (p.Asn360=) |
single nucleotide variant |
not provided [RCV001092973] |
Chr6:6222065 [GRCh38]
Chr6:6222298 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003313846] |
Chr6:6248387 [GRCh38]
Chr6:6248620 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.235A>T (p.Arg79Ter) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003313884] |
Chr6:6305435 [GRCh38]
Chr6:6305668 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.2150A>G (p.His717Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003313882] |
Chr6:6145668 [GRCh38]
Chr6:6145901 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser) |
indel |
Thrombophilia due to thrombin defect [RCV003313878] |
Chr6:6167505..6167506 [GRCh38]
Chr6:6167738..6167739 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.530C>A (p.Pro177Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003273074] |
Chr6:6266599 [GRCh38]
Chr6:6266832 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.937G>C (p.Gly313Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003126312] |
Chr6:6224722 [GRCh38]
Chr6:6224955 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.788G>T (p.Gly263Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003292020] |
Chr6:6248322 [GRCh38]
Chr6:6248555 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.690+77C>T |
single nucleotide variant |
not provided [RCV001670791] |
Chr6:6250734 [GRCh38]
Chr6:6250967 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.319+107G>T |
single nucleotide variant |
not provided [RCV001671745] |
Chr6:6305244 [GRCh38]
Chr6:6305477 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.572-342C>T |
single nucleotide variant |
not provided [RCV001645695] |
Chr6:6251271 [GRCh38]
Chr6:6251504 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.973+305T>C |
single nucleotide variant |
not provided [RCV001689521] |
Chr6:6224381 [GRCh38]
Chr6:6224614 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.2169C>T (p.Asp723=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160710]|not provided [RCV000963445] |
Chr6:6145649 [GRCh38]
Chr6:6145882 [GRCh37]
Chr6:6p25.1 |
benign|likely benign|uncertain significance |
| NM_000129.4(F13A1):c.542C>T (p.Thr181Met) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159439] |
Chr6:6266587 [GRCh38]
Chr6:6266820 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.476G>A (p.Arg159His) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159440] |
Chr6:6266653 [GRCh38]
Chr6:6266886 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1260C>T (p.His420=) |
single nucleotide variant |
not provided [RCV001092972] |
Chr6:6195842 [GRCh38]
Chr6:6196075 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.291G>A (p.Arg97=) |
single nucleotide variant |
not provided [RCV000913325] |
Chr6:6305379 [GRCh38]
Chr6:6305612 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1112+164A>T |
single nucleotide variant |
not provided [RCV001721726] |
Chr6:6221869 [GRCh38]
Chr6:6222102 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.572-119dup |
duplication |
not provided [RCV001721744] |
Chr6:6251042..6251043 [GRCh38]
Chr6:6251275..6251276 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.571+238G>A |
single nucleotide variant |
not provided [RCV001688789] |
Chr6:6266320 [GRCh38]
Chr6:6266553 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.320-262C>A |
single nucleotide variant |
not provided [RCV001596778] |
Chr6:6267071 [GRCh38]
Chr6:6267304 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.-18-20_-18-18dup |
duplication |
not provided [RCV001677622] |
Chr6:6318688..6318689 [GRCh38]
Chr6:6318921..6318922 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.690+132A>T |
single nucleotide variant |
not provided [RCV001655280] |
Chr6:6250679 [GRCh38]
Chr6:6250912 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.2045+227A>G |
single nucleotide variant |
not provided [RCV001671842] |
Chr6:6151586 [GRCh38]
Chr6:6151819 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.2045+94G>A |
single nucleotide variant |
not provided [RCV001596313] |
Chr6:6151719 [GRCh38]
Chr6:6151952 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1747+232C>A |
single nucleotide variant |
not provided [RCV001694438] |
Chr6:6174348 [GRCh38]
Chr6:6174581 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1460-125dup |
duplication |
not provided [RCV001649402] |
Chr6:6174988..6174989 [GRCh38]
Chr6:6175221..6175222 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.2046-316A>G |
single nucleotide variant |
not provided [RCV001676222] |
Chr6:6146088 [GRCh38]
Chr6:6146321 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1459+139G>A |
single nucleotide variant |
not provided [RCV001693812] |
Chr6:6181849 [GRCh38]
Chr6:6182082 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1908+70C>T |
single nucleotide variant |
not provided [RCV001677014] |
Chr6:6167388 [GRCh38]
Chr6:6167621 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1908+128_1908+132del |
deletion |
not provided [RCV001598919] |
Chr6:6167326..6167330 [GRCh38]
Chr6:6167559..6167563 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1832C>G (p.Ala611Gly) |
single nucleotide variant |
not provided [RCV001092971] |
Chr6:6167534 [GRCh38]
Chr6:6167767 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.118G>A (p.Val40Ile) |
single nucleotide variant |
F13A1-related condition [RCV003931526] |
Chr6:6318547 [GRCh38]
Chr6:6318780 [GRCh37]
Chr6:6p25.1 |
likely benign|uncertain significance |
| NM_000129.4(F13A1):c.*1045C>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160612] |
Chr6:6144574 [GRCh38]
Chr6:6144807 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.2036A>T (p.Lys679Met) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160711] |
Chr6:6151822 [GRCh38]
Chr6:6152055 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*796G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162236] |
Chr6:6144823 [GRCh38]
Chr6:6145056 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162332]|Factor XIII, A subunit, deficiency of [RCV002491471] |
Chr6:6167505 [GRCh38]
Chr6:6167738 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.3(F13A1):c.-95C>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160813] |
Chr6:6320663 [GRCh38]
Chr6:6320896 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*102G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159347] |
Chr6:6145517 [GRCh38]
Chr6:6145750 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.911G>A (p.Arg304Gln) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159436] |
Chr6:6224748 [GRCh38]
Chr6:6224981 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159438] |
Chr6:6250887 [GRCh38]
Chr6:6251120 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.27del (p.Phe9fs) |
deletion |
Factor XIII, A subunit, deficiency of [RCV003388121]|not provided [RCV002505967] |
Chr6:6318638 [GRCh38]
Chr6:6318871 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.*1135G>A |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160611] |
Chr6:6144484 [GRCh38]
Chr6:6144717 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.798+2T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420448] |
Chr6:6248310 [GRCh38]
Chr6:6248543 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.-18-20dup |
duplication |
not provided [RCV001612120] |
Chr6:6318688..6318689 [GRCh38]
Chr6:6318921..6318922 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1908+127_1908+132del |
deletion |
not provided [RCV001610995] |
Chr6:6167326..6167331 [GRCh38]
Chr6:6167559..6167564 [GRCh37]
Chr6:6p25.1 |
benign |
| NC_000006.12:g.6320895T>C |
single nucleotide variant |
not provided [RCV001644289] |
Chr6:6320895 [GRCh38]
Chr6:6321128 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1305+104G>A |
single nucleotide variant |
not provided [RCV001612546] |
Chr6:6195693 [GRCh38]
Chr6:6195926 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1909-29G>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001703025]|not provided [RCV001637467] |
Chr6:6151978 [GRCh38]
Chr6:6152211 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1761G>A (p.Ala587=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162334] |
Chr6:6167605 [GRCh38]
Chr6:6167838 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162336]|not specified [RCV002249745] |
Chr6:6174597 [GRCh38]
Chr6:6174830 [GRCh37]
Chr6:6p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000129.4(F13A1):c.*208T>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159346] |
Chr6:6145411 [GRCh38]
Chr6:6145644 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.680G>A (p.Ser227Asn) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001159437] |
Chr6:6250821 [GRCh38]
Chr6:6251054 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*1455G>C |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160609] |
Chr6:6144164 [GRCh38]
Chr6:6144397 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1998A>G (p.Val666=) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160712] |
Chr6:6151860 [GRCh38]
Chr6:6152093 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.130+15C>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001160812] |
Chr6:6318520 [GRCh38]
Chr6:6318753 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.*966G>T |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001162234] |
Chr6:6144653 [GRCh38]
Chr6:6144886 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.117C>A (p.Gly39=) |
single nucleotide variant |
not provided [RCV001311700] |
Chr6:6318548 [GRCh38]
Chr6:6318781 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.503A>G (p.Tyr168Cys) |
single nucleotide variant |
not provided [RCV001311699] |
Chr6:6266626 [GRCh38]
Chr6:6266859 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1503C>A (p.Tyr501Ter) |
single nucleotide variant |
not provided [RCV002284326] |
Chr6:6174824 [GRCh38]
Chr6:6175057 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1878C>T (p.Thr626=) |
single nucleotide variant |
not provided [RCV001311697] |
Chr6:6167488 [GRCh38]
Chr6:6167721 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.543G>A (p.Thr181=) |
single nucleotide variant |
not provided [RCV001311698] |
Chr6:6266586 [GRCh38]
Chr6:6266819 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser) |
single nucleotide variant |
Abnormal bleeding [RCV001270561] |
Chr6:6197290 [GRCh38]
Chr6:6197523 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.22G>A (p.Ala8Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002554040]|not provided [RCV001413147] |
Chr6:6318643 [GRCh38]
Chr6:6318876 [GRCh37]
Chr6:6p25.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000129.4(F13A1):c.1718C>T (p.Thr573Met) |
single nucleotide variant |
not provided [RCV001498031] |
Chr6:6174609 [GRCh38]
Chr6:6174842 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1306-231G>A |
single nucleotide variant |
not provided [RCV001608843] |
Chr6:6182372 [GRCh38]
Chr6:6182605 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.319+126C>G |
single nucleotide variant |
not provided [RCV001681350] |
Chr6:6305225 [GRCh38]
Chr6:6305458 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1747+27C>G |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001702134]|not provided [RCV001637352] |
Chr6:6174553 [GRCh38]
Chr6:6174786 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1460-74G>A |
single nucleotide variant |
not provided [RCV001684967] |
Chr6:6174941 [GRCh38]
Chr6:6175174 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.974-333G>A |
single nucleotide variant |
not provided [RCV001715369] |
Chr6:6222504 [GRCh38]
Chr6:6222737 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.2045+39G>A |
single nucleotide variant |
not provided [RCV001665710] |
Chr6:6151774 [GRCh38]
Chr6:6152007 [GRCh37]
Chr6:6p25.1 |
benign |
| NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420444] |
Chr6:6151949 [GRCh38]
Chr6:6152182 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420445] |
Chr6:6174796 [GRCh38]
Chr6:6175029 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420446] |
Chr6:6182101 [GRCh38]
Chr6:6182334 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420447] |
Chr6:6195805 [GRCh38]
Chr6:6196038 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420449] |
Chr6:6248323 [GRCh38]
Chr6:6248556 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV001420450] |
Chr6:6305484 [GRCh38]
Chr6:6305717 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs) |
microsatellite |
Factor XIII, A subunit, deficiency of [RCV001783234] |
Chr6:6182039..6182042 [GRCh38]
Chr6:6182272..6182275 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.1622G>A (p.Arg541Gln) |
single nucleotide variant |
not provided [RCV001769856]|not specified [RCV003331199] |
Chr6:6174705 [GRCh38]
Chr6:6174938 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.-5C>T |
single nucleotide variant |
not provided [RCV001816419] |
Chr6:6318669 [GRCh38]
Chr6:6318902 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1695G>A (p.Pro565=) |
single nucleotide variant |
F13A1-related condition [RCV003968586]|not specified [RCV001844447] |
Chr6:6174632 [GRCh38]
Chr6:6174865 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs) |
insertion |
Factor XIII, A subunit, deficiency of [RCV002052271] |
Chr6:6266668..6266669 [GRCh38]
Chr6:6266901..6266902 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NC_000006.11:g.(?_5109657)_(6320826_?)del |
deletion |
Combined oxidative phosphorylation defect type 14 [RCV003109536] |
Chr6:5109657..6320826 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NC_000006.11:g.(?_5771504)_(6182394_?)dup |
duplication |
Combined oxidative phosphorylation defect type 14 [RCV003109539] |
Chr6:5771504..6182394 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.707T>G (p.Leu236Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV002283636] |
Chr6:6248403 [GRCh38]
Chr6:6248636 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1462C>G (p.Gln488Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002991978] |
Chr6:6174865 [GRCh38]
Chr6:6175098 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.436T>A (p.Ser146Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002901501] |
Chr6:6266693 [GRCh38]
Chr6:6266926 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 |
copy number gain |
See cases [RCV002509885] |
Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| NM_000129.4(F13A1):c.1676C>A (p.Thr559Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002743466] |
Chr6:6174651 [GRCh38]
Chr6:6174884 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1981C>G (p.Leu661Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002789222] |
Chr6:6151877 [GRCh38]
Chr6:6152110 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.323G>A (p.Arg108His) |
single nucleotide variant |
Inborn genetic diseases [RCV002666344] |
Chr6:6266806 [GRCh38]
Chr6:6267039 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1405C>G (p.Gln469Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002666113] |
Chr6:6182042 [GRCh38]
Chr6:6182275 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1879G>A (p.Val627Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002959924] |
Chr6:6167487 [GRCh38]
Chr6:6167720 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1376C>A (p.Thr459Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002747285] |
Chr6:6182071 [GRCh38]
Chr6:6182304 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1213G>A (p.Asp405Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002747376]|not specified [RCV003388164] |
Chr6:6197226 [GRCh38]
Chr6:6197459 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1286C>T (p.Ala429Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002678010] |
Chr6:6195816 [GRCh38]
Chr6:6196049 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs) |
deletion |
Factor XIII, A subunit, deficiency of [RCV003145090] |
Chr6:6151943..6151944 [GRCh38]
Chr6:6152176..6152177 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.107T>C (p.Val36Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003256599] |
Chr6:6318558 [GRCh38]
Chr6:6318791 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.2068G>A (p.Val690Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003184354] |
Chr6:6145750 [GRCh38]
Chr6:6145983 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.2095T>G (p.Trp699Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003220922] |
Chr6:6145723 [GRCh38]
Chr6:6145956 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1864A>G (p.Lys622Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003259907] |
Chr6:6167502 [GRCh38]
Chr6:6167735 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1780G>A (p.Glu594Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003175651] |
Chr6:6167586 [GRCh38]
Chr6:6167819 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.347C>A (p.Thr116Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003211761] |
Chr6:6266782 [GRCh38]
Chr6:6267015 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1782G>C (p.Glu594Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003219863] |
Chr6:6167584 [GRCh38]
Chr6:6167817 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1183G>A (p.Ala395Thr) |
single nucleotide variant |
not provided [RCV003319029] |
Chr6:6197256 [GRCh38]
Chr6:6197489 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1960A>T (p.Thr654Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003285442] |
Chr6:6151898 [GRCh38]
Chr6:6152131 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1349C>T (p.Thr450Ile) |
single nucleotide variant |
not specified [RCV003321037] |
Chr6:6182098 [GRCh38]
Chr6:6182331 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1271G>A (p.Cys424Tyr) |
single nucleotide variant |
not provided [RCV003325738] |
Chr6:6195831 [GRCh38]
Chr6:6196064 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003333818] |
Chr6:6182017 [GRCh38]
Chr6:6182250 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.669del (p.Arg224fs) |
deletion |
Factor XIII, A subunit, deficiency of [RCV003333888] |
Chr6:6250832 [GRCh38]
Chr6:6251065 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.1261G>A (p.Gly421Ser) |
single nucleotide variant |
not specified [RCV003332053] |
Chr6:6195841 [GRCh38]
Chr6:6196074 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.644A>T (p.Tyr215Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003345920] |
Chr6:6250857 [GRCh38]
Chr6:6251090 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.385G>A (p.Gly129Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003370355] |
Chr6:6266744 [GRCh38]
Chr6:6266977 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.317T>C (p.Ile106Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003361746] |
Chr6:6305353 [GRCh38]
Chr6:6305586 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 |
copy number gain |
not provided [RCV003484635] |
Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3 |
pathogenic |
| NM_000129.4(F13A1):c.232C>T (p.Arg78Cys) |
single nucleotide variant |
F13A1-related condition [RCV003901095]|Factor XIII, A subunit, deficiency of [RCV003484579] |
Chr6:6305438 [GRCh38]
Chr6:6305671 [GRCh37]
Chr6:6p25.1 |
pathogenic|likely pathogenic |
| NM_000129.4(F13A1):c.1726G>A (p.Val576Met) |
single nucleotide variant |
F13A1-related condition [RCV003419231]|Inborn genetic diseases [RCV004362894] |
Chr6:6174601 [GRCh38]
Chr6:6174834 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.601G>A (p.Glu201Lys) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003444474] |
Chr6:6250900 [GRCh38]
Chr6:6251133 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1305+1G>A |
single nucleotide variant |
F13A1-related condition [RCV003410898] |
Chr6:6195796 [GRCh38]
Chr6:6196029 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.691T>A (p.Phe231Ile) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV004437810] |
Chr6:6248419 [GRCh38]
Chr6:6248652 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.-25C>G |
single nucleotide variant |
F13A1-related condition [RCV003911422] |
Chr6:6320593 [GRCh38]
Chr6:6320826 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.633G>T (p.Gly211=) |
single nucleotide variant |
F13A1-related condition [RCV003981820] |
Chr6:6250868 [GRCh38]
Chr6:6251101 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1419T>C (p.Asp473=) |
single nucleotide variant |
F13A1-related condition [RCV003919511] |
Chr6:6182028 [GRCh38]
Chr6:6182261 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1796T>C (p.Leu599Pro) |
single nucleotide variant |
not specified [RCV003988363] |
Chr6:6167570 [GRCh38]
Chr6:6167803 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.315C>T (p.Val105=) |
single nucleotide variant |
F13A1-related condition [RCV003961655] |
Chr6:6305355 [GRCh38]
Chr6:6305588 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.872C>G (p.Ser291Trp) |
single nucleotide variant |
not specified [RCV003988364] |
Chr6:6224787 [GRCh38]
Chr6:6225020 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1863C>T (p.Ala621=) |
single nucleotide variant |
F13A1-related condition [RCV003941718] |
Chr6:6167503 [GRCh38]
Chr6:6167736 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.521del (p.Ser174fs) |
deletion |
F13A1-related condition [RCV003894441] |
Chr6:6266608 [GRCh38]
Chr6:6266841 [GRCh37]
Chr6:6p25.1 |
pathogenic |
| NM_000129.4(F13A1):c.-26G>A |
single nucleotide variant |
F13A1-related condition [RCV003904131] |
Chr6:6320594 [GRCh38]
Chr6:6320827 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1737G>A (p.Glu579=) |
single nucleotide variant |
F13A1-related condition [RCV003897237] |
Chr6:6174590 [GRCh38]
Chr6:6174823 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.820G>C (p.Gly274Arg) |
single nucleotide variant |
Factor XIII, A subunit, deficiency of [RCV003890759] |
Chr6:6224839 [GRCh38]
Chr6:6225072 [GRCh37]
Chr6:6p25.1 |
likely pathogenic |
| NM_000129.4(F13A1):c.572-4del |
deletion |
F13A1-related condition [RCV003894550] |
Chr6:6250933 [GRCh38]
Chr6:6251166 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1833T>C (p.Ala611=) |
single nucleotide variant |
F13A1-related condition [RCV003952019] |
Chr6:6167533 [GRCh38]
Chr6:6167766 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.417G>A (p.Glu139=) |
single nucleotide variant |
F13A1-related condition [RCV003974220] |
Chr6:6266712 [GRCh38]
Chr6:6266945 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.749T>C (p.Leu250Pro) |
single nucleotide variant |
F13A1-related condition [RCV003969150] |
Chr6:6248361 [GRCh38]
Chr6:6248594 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1411G>A (p.Gly471Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004385794] |
Chr6:6182036 [GRCh38]
Chr6:6182269 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.430C>T (p.Arg144Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004385799] |
Chr6:6266699 [GRCh38]
Chr6:6266932 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1719G>A (p.Thr573=) |
single nucleotide variant |
Inborn genetic diseases [RCV004385795] |
Chr6:6174608 [GRCh38]
Chr6:6174841 [GRCh37]
Chr6:6p25.1 |
likely benign |
| NM_000129.4(F13A1):c.1808C>T (p.Ala603Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004385796] |
Chr6:6167558 [GRCh38]
Chr6:6167791 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.1865A>G (p.Lys622Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004385797] |
Chr6:6167501 [GRCh38]
Chr6:6167734 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
| NM_000129.4(F13A1):c.2195T>A (p.Met732Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004385798] |
Chr6:6145623 [GRCh38]
Chr6:6145856 [GRCh37]
Chr6:6p25.1 |
uncertain significance |
