| NM_021871.4(FGA):c.104G>A (p.Arg35His) |
single nucleotide variant |
Abnormal bleeding [RCV000851971]|Dysfibrinogenemia [RCV000030941]|FIBRINOGEN PETOSKEY [RCV000030941]|Hypofibrinogenemia [RCV000851581] |
Chr4:154589513 [GRCh38]
Chr4:155510665 [GRCh37]
Chr4:4q31.3 |
pathogenic|other |
| NM_000508.3(FGA):c.76G>A (p.Asp26Asn) |
single nucleotide variant |
FIBRINOGEN LILLE 1 [RCV000017823] |
Chr4:154589541 [GRCh38]
Chr4:155510693 [GRCh37]
Chr4:4q31.3 |
other |
| NM_000508.3(FGA):c.92G>T (p.Gly31Val) |
single nucleotide variant |
FIBRINOGEN ROUEN 1 [RCV000017824] |
Chr4:154589525 [GRCh38]
Chr4:155510677 [GRCh37]
Chr4:4q31.3 |
other |
| NM_000508.3(FGA):c.103C>T (p.Arg35Cys) |
single nucleotide variant |
Dysfibrinogenemia [RCV000017825]|Fibrinogen milano xii, digenic [RCV000017840] |
Chr4:154589514 [GRCh38]
Chr4:155510666 [GRCh37]
Chr4:4q31.3 |
pathogenic|other |
| FIBRINOGEN MUNICH 1 |
variation |
FIBRINOGEN MUNICH 1 [RCV000017841] |
Chr4:4q28 |
other |
| FIBRINOGEN DETROIT 1 |
variation |
FIBRINOGEN DETROIT 1 [RCV000017842] |
Chr4:4q28 |
other |
| NM_000508.3(FGA):c.112A>G (p.Arg38Gly) |
single nucleotide variant |
FIBRINOGEN AARHUS 1 [RCV000017843]|Hypofibrinogenemia [RCV000851993] |
Chr4:154589505 [GRCh38]
Chr4:155510657 [GRCh37]
Chr4:4q31.3 |
likely pathogenic|other |
| NM_000508.3(FGA):c.110C>T (p.Pro37Leu) |
single nucleotide variant |
FIBRINOGEN KYOTO 2 [RCV000017844] |
Chr4:154589507 [GRCh38]
Chr4:155510659 [GRCh37]
Chr4:4q31.3 |
other |
| NM_000508.3(FGA):c.1358G>A (p.Ser453Asn) |
single nucleotide variant |
FIBRINOGEN CARACAS-2 [RCV000017865]|FIBRINOGEN CARACAS 2 [RCV000017865] |
Chr4:154586071 [GRCh38]
Chr4:155507223 [GRCh37]
Chr4:4q31.3 |
other |
| FIBRINOGEN LIMA |
variation |
FIBRINOGEN LIMA [RCV000017866] |
Chr4:4q28 |
other |
| NM_000508.3(FGA):c.1438A>T (p.Lys480Ter) |
single nucleotide variant |
FIBRINOGEN MARBURG [RCV000017867]|Dysfibrinogenemia causing bleeding diathesis [RCV000017868] |
Chr4:154585991 [GRCh38]
Chr4:155507143 [GRCh37]
Chr4:4q31.3 |
pathogenic|other |
| NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) |
single nucleotide variant |
Familial visceral amyloidosis, Ostertag type [RCV000017869] |
Chr4:154585711 [GRCh38]
Chr4:155506863 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_021871.4(FGA):c.1622del (p.Val541fs) |
deletion |
Familial visceral amyloidosis, Ostertag type [RCV000017870] |
Chr4:154585807 [GRCh38]
Chr4:155506959 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_021871.4(FGA):c.1634A>T (p.Glu545Val) |
single nucleotide variant |
Familial visceral amyloidosis, Ostertag type [RCV000017871] |
Chr4:154585795 [GRCh38]
Chr4:155506947 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) |
single nucleotide variant |
FIBRINOGEN DUSART [RCV000017872] |
Chr4:154585712 [GRCh38]
Chr4:155506864 [GRCh37]
Chr4:4q31.3 |
other |
| NM_000508.3(FGA):c.116T>A (p.Val39Asp) |
single nucleotide variant |
FIBRINOGEN CANTERBURY [RCV000017874] |
Chr4:154589501 [GRCh38]
Chr4:155510653 [GRCh37]
Chr4:4q31.3 |
other |
| NM_021871.4(FGA):c.1629del (p.Thr544fs) |
deletion |
Familial visceral amyloidosis, Ostertag type [RCV000017875] |
Chr4:154585800 [GRCh38]
Chr4:155506952 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del |
deletion |
Afibrinogenemia, congenital [RCV000017876] |
Chr4:154580329..154590210 [GRCh38]
Chr4:4q28 |
pathogenic |
| NM_021871.4(FGA):c.510+1G>T |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000017877]|Hypodysfibrinogenemia, congenital [RCV000030942]|Hypofibrinogenemia [RCV000851811] |
Chr4:154587511 [GRCh38]
Chr4:155508663 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| FIBRINOGEN NIEUWEGEIN |
insertion |
FIBRINOGEN NIEUWEGEIN [RCV000017878] |
Chr4:4q28 |
other |
| NM_021871.4(FGA):c.711dup (p.Lys238Ter) |
duplication |
Afibrinogenemia, congenital [RCV000017879] |
Chr4:154586718 [GRCh38]
Chr4:155507870 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_000508.3(FGA):c.1039C>T (p.Gln347Ter) |
single nucleotide variant |
FIBRINOGEN KEOKUK [RCV000017880] |
Chr4:154586390 [GRCh38]
Chr4:155507542 [GRCh37]
Chr4:4q31.3 |
other |
| NM_021871.4(FGA):c.991A>G (p.Thr331Ala) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000338448]|Familial visceral amyloidosis, Ostertag type [RCV000405212]|Venous thromboembolism, susceptibility to [RCV000017882]|not specified [RCV000246757] |
Chr4:154586438 [GRCh38]
Chr4:155507590 [GRCh37]
Chr4:4q31.3 |
risk factor|benign |
| NM_000508.5(FGA):c.2153C>A (p.Thr718Asn) |
single nucleotide variant |
not provided [RCV000722728] |
Chr4:154584572 [GRCh38]
Chr4:155505724 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 |
copy number gain |
Low-set ears [RCV000051785]|See cases [RCV000051785] |
Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2 |
pathogenic |
| GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 |
copy number gain |
Abnormality of the heart [RCV000051786]|See cases [RCV000051786] |
Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2 |
pathogenic |
| GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051788]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051788]|See cases [RCV000051788] |
Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1 |
pathogenic |
| GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] |
Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2 |
pathogenic |
| GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] |
Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3 |
pathogenic |
| GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1 |
copy number loss |
Global developmental delay [RCV000053324]|See cases [RCV000053324] |
Chr4:153656785..154928773 [GRCh38]
Chr4:154577937..155849925 [GRCh37]
Chr4:154797387..156069375 [NCBI36]
Chr4:4q31.3-32.1 |
pathogenic |
| GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 |
copy number loss |
See cases [RCV000135696] |
Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1 |
likely pathogenic |
| GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 |
copy number gain |
See cases [RCV000135845] |
Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2 |
pathogenic |
| GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 |
copy number gain |
See cases [RCV000136810] |
Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2 |
pathogenic |
| GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 |
copy number gain |
See cases [RCV000137721] |
Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2 |
pathogenic|likely benign |
| GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 |
copy number gain |
See cases [RCV000138578] |
Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1 |
pathogenic|likely benign |
| GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 |
copy number gain |
See cases [RCV000143559] |
Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2 |
pathogenic |
| GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 |
copy number gain |
See cases [RCV000143617] |
Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1 |
likely pathogenic |
| GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 |
copy number gain |
See cases [RCV000240245] |
Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1 |
pathogenic |
| NM_021871.4(FGA):c.923G>A (p.Arg308Gln) |
single nucleotide variant |
not provided [RCV000224629] |
Chr4:154586506 [GRCh38]
Chr4:155507658 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.616C>G (p.Gln206Glu) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000279650]|Familial visceral amyloidosis, Ostertag type [RCV000371491] |
Chr4:154586813 [GRCh38]
Chr4:155507965 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.450G>A (p.Gln150=) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000340627]|Familial visceral amyloidosis, Ostertag type [RCV000283016] |
Chr4:154587572 [GRCh38]
Chr4:155508724 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.904C>G (p.Pro302Ala) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000307705]|Familial visceral amyloidosis, Ostertag type [RCV000268329]|not provided [RCV000973688] |
Chr4:154586525 [GRCh38]
Chr4:155507677 [GRCh37]
Chr4:4q31.3 |
benign|likely benign |
| NM_000508.5(FGA):c.2586C>T (p.Pro862=) |
single nucleotide variant |
not provided [RCV000961585]|not specified [RCV000241967] |
Chr4:154584139 [GRCh38]
Chr4:155505291 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000328375]|Familial visceral amyloidosis, Ostertag type [RCV000270905] |
Chr4:154585606 [GRCh38]
Chr4:155506758 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_000508.5(FGA):c.*7_*34dup |
duplication |
not specified [RCV000247066] |
Chr4:154584090..154584117 [GRCh38]
Chr4:155505242..155505269 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.-14C>T |
single nucleotide variant |
not specified [RCV000250194] |
Chr4:154590701 [GRCh38]
Chr4:155511853 [GRCh37]
Chr4:4q31.3 |
likely benign |
| NM_021871.4(FGA):c.*50T>G |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000266418]|Familial visceral amyloidosis, Ostertag type [RCV000358780] |
Chr4:154585444 [GRCh38]
Chr4:155506596 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 |
copy number gain |
See cases [RCV000240392] |
Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2 |
pathogenic |
| NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000299895]|Familial visceral amyloidosis, Ostertag type [RCV000404272] |
Chr4:154586230 [GRCh38]
Chr4:155507382 [GRCh37]
Chr4:4q31.3 |
likely benign |
| NM_021871.4(FGA):c.919A>G (p.Asn307Asp) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000360629]|Familial visceral amyloidosis, Ostertag type [RCV000303506] |
Chr4:154586510 [GRCh38]
Chr4:155507662 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.1542T>C (p.Pro514=) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000385254]|Familial visceral amyloidosis, Ostertag type [RCV000293267]|not provided [RCV000946817] |
Chr4:154585887 [GRCh38]
Chr4:155507039 [GRCh37]
Chr4:4q31.3 |
benign|likely benign |
| NM_021871.4(FGA):c.1838A>G (p.His613Arg) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000381748]|Familial visceral amyloidosis, Ostertag type [RCV000323812] |
Chr4:154585591 [GRCh38]
Chr4:155506743 [GRCh37]
Chr4:4q31.3 |
likely benign |
| NM_021871.4(FGA):c.244A>C (p.Thr82Pro) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000344051]|Familial visceral amyloidosis, Ostertag type [RCV000404726] |
Chr4:154588913 [GRCh38]
Chr4:155510065 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.16A>G (p.Ile6Val) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000366318]|Familial visceral amyloidosis, Ostertag type [RCV000309151]|not provided [RCV000953503] |
Chr4:154590672 [GRCh38]
Chr4:155511824 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000296696]|Familial visceral amyloidosis, Ostertag type [RCV000334967] |
Chr4:154586012 [GRCh38]
Chr4:155507164 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.765G>A (p.Pro255=) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000386537]|Familial visceral amyloidosis, Ostertag type [RCV000329775] |
Chr4:154586664 [GRCh38]
Chr4:155507816 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.3(FGA):c.-58A>G |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000396755]|Familial visceral amyloidosis, Ostertag type [RCV000312840] |
Chr4:154590745 [GRCh38]
Chr4:155511897 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.1444G>A (p.Val482Met) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000388685]|Familial visceral amyloidosis, Ostertag type [RCV000350523] |
Chr4:154585985 [GRCh38]
Chr4:155507137 [GRCh37]
Chr4:4q31.3 |
likely benign |
| NM_021871.4(FGA):c.822C>T (p.Ser274=) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000364658]|Familial visceral amyloidosis, Ostertag type [RCV000272340] |
Chr4:154586607 [GRCh38]
Chr4:155507759 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.666A>T (p.Pro222=) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000275684]|Familial visceral amyloidosis, Ostertag type [RCV000333223] |
Chr4:154586763 [GRCh38]
Chr4:155507915 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.346G>A (p.Asp116Asn) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000402806]|Familial visceral amyloidosis, Ostertag type [RCV000305519] |
Chr4:154588811 [GRCh38]
Chr4:155509963 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.614A>G (p.Glu205Gly) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000337081]|Familial visceral amyloidosis, Ostertag type [RCV000375396] |
Chr4:154586815 [GRCh38]
Chr4:155507967 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.193C>A (p.Pro65Thr) |
single nucleotide variant |
not provided [RCV000722253] |
Chr4:154588964 [GRCh38]
Chr4:155510116 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_000508.5(FGA):c.2434T>C (p.Cys812Arg) |
single nucleotide variant |
not provided [RCV000722976] |
Chr4:154584291 [GRCh38]
Chr4:155505443 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.502C>T (p.Arg168Ter) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000454272] |
Chr4:154587520 [GRCh38]
Chr4:155508672 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 |
copy number gain |
See cases [RCV000510713] |
Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2 |
pathogenic |
| GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 |
copy number loss |
See cases [RCV000511404] |
Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2 |
pathogenic |
| GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 |
copy number gain |
See cases [RCV000511945] |
Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2 |
pathogenic |
| GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2 |
pathogenic |
| NM_000508.5(FGA):c.2089G>A (p.Gly697Ser) |
single nucleotide variant |
AFib amyloidosis [RCV000627058] |
Chr4:154584636 [GRCh38]
Chr4:155505788 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 |
copy number loss |
not provided [RCV000682474] |
Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1 |
likely pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_021871.4(FGA):c.780G>A (p.Glu260=) |
single nucleotide variant |
not provided [RCV000879648] |
Chr4:154586649 [GRCh38]
Chr4:155507801 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.811C>T (p.Arg271Ter) |
single nucleotide variant |
Afibrinogenemia, congenital [RCV000984799] |
Chr4:154586618 [GRCh38]
Chr4:155507770 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_021871.4(FGA):c.1103del (p.Gly368fs) |
deletion |
FGA-Related Disorders [RCV000779433] |
Chr4:154586327 [GRCh38]
Chr4:155507477..155507478 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.300G>A (p.Lys100=) |
single nucleotide variant |
not provided [RCV000964974] |
Chr4:154588857 [GRCh38]
Chr4:155510009 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.1155A>G (p.Gln385=) |
single nucleotide variant |
not provided [RCV000921628] |
Chr4:154586274 [GRCh38]
Chr4:155507426 [GRCh37]
Chr4:4q31.3 |
likely benign |
| NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) |
single nucleotide variant |
not provided [RCV000964973] |
Chr4:154586063 [GRCh38]
Chr4:155507215 [GRCh37]
Chr4:4q31.3 |
benign |
| NM_021871.4(FGA):c.532C>T (p.Arg178Ter) |
single nucleotide variant |
FGA-Related Disorders [RCV000779434] |
Chr4:154586897 [GRCh38]
Chr4:155508049 [GRCh37]
Chr4:4q31.3 |
likely pathogenic |
| NM_021871.4(FGA):c.187A>T (p.Lys63Ter) |
single nucleotide variant |
FGA-Related Disorders [RCV000779435] |
Chr4:154588970 [GRCh38]
Chr4:155510122 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_021871.4(FGA):c.103C>A (p.Arg35Ser) |
single nucleotide variant |
Hypofibrinogenemia [RCV000851968] |
Chr4:154589514 [GRCh38]
Chr4:155510666 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 |
copy number loss |
not provided [RCV000848578] |
Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1 |
uncertain significance |
| GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 |
copy number gain |
not provided [RCV000849098] |
Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2 |
pathogenic |
| NM_021871.4(FGA):c.104G>C (p.Arg35Pro) |
single nucleotide variant |
Hypofibrinogenemia [RCV000851972] |
Chr4:154589513 [GRCh38]
Chr4:155510665 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_021871.4(FGA):c.922C>T (p.Arg308Ter) |
single nucleotide variant |
Hypofibrinogenemia [RCV000852248] |
Chr4:154586507 [GRCh38]
Chr4:155507659 [GRCh37]
Chr4:4q31.3 |
likely pathogenic |
| NM_021871.4(FGA):c.945del (p.Gly316fs) |
deletion |
Hypofibrinogenemia [RCV000851912] |
Chr4:154586484 [GRCh38]
Chr4:155507636 [GRCh37]
Chr4:4q31.3 |
pathogenic |
| NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr) |
single nucleotide variant |
Hypofibrinogenemia [RCV000852035] |
Chr4:154585957 [GRCh38]
Chr4:155507109 [GRCh37]
Chr4:4q31.3 |
likely pathogenic |
| GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 |
copy number gain |
not provided [RCV000849686] |
Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1 |
pathogenic |
| NM_021871.4(FGA):c.117del (p.Val40fs) |
deletion |
Hypofibrinogenemia [RCV000852003] |
Chr4:154589501 [GRCh38]
Chr4:155510652 [GRCh37]
Chr4:4q31.3 |
likely pathogenic |
| NM_021871.4(FGA):c.1760C>G (p.Thr587Arg) |
single nucleotide variant |
Familial visceral amyloidosis, Ostertag type [RCV000855410] |
Chr4:154585669 [GRCh38]
Chr4:155506821 [GRCh37]
Chr4:4q31.3 |
uncertain significance |
| NM_000508.5(FGA):c.2244T>C (p.Ala748=) |
single nucleotide variant |
not provided [RCV000886341] |
Chr4:154584481 [GRCh38]
Chr4:155505633 [GRCh37]
Chr4:4q31.3 |
likely benign |
| NM_021871.4(FGA):c.1560C>T (p.Phe520=) |
single nucleotide variant |
not provided [RCV000933781] |
Chr4:154585869 [GRCh38]
Chr4:155507021 [GRCh37]
Chr4:4q31.3 |
likely benign |
Gene-Chemical Interaction Annotations
