| NM_000312.4(PROC):c.71-17C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001089427]|not provided [RCV000530308] |
Chr2:127421266 [GRCh38]
Chr2:128178842 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000690]|not provided [RCV001528453] |
Chr2:127428602 [GRCh38]
Chr2:128186178 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1332G>C (p.Trp444Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000691] |
Chr2:127428892 [GRCh38]
Chr2:128186468 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| PROC, ARG12TRP |
variation |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000692] |
Chr2:2q13-q14 |
pathogenic |
| NM_000312.4(PROC):c.631C>T (p.Arg211Trp) |
single nucleotide variant |
Reduced protein C activity [RCV000851836]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000693]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000694] |
Chr2:127426180 [GRCh38]
Chr2:128183756 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000312.4(PROC):c.902C>T (p.Ala301Val) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000695] |
Chr2:127428462 [GRCh38]
Chr2:128186038 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.629C>T (p.Pro210Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000778563]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000696] |
Chr2:127426178 [GRCh38]
Chr2:128183754 [GRCh37]
Chr2:2q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.925G>A (p.Ala309Thr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000689442]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000697] |
Chr2:127428485 [GRCh38]
Chr2:128186061 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000698] |
Chr2:127428587 [GRCh38]
Chr2:128186163 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.185A>C (p.Glu62Ala) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000699] |
Chr2:127421397 [GRCh38]
Chr2:128178973 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.226G>A (p.Val76Met) |
single nucleotide variant |
Abnormal thrombosis [RCV000852081]|Cerebral palsy [RCV001794425]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000700] |
Chr2:127421438 [GRCh38]
Chr2:128179014 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000195879]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000701] |
Chr2:127428560 [GRCh38]
Chr2:128186136 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.866C>T (p.Pro289Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000702] |
Chr2:127428426 [GRCh38]
Chr2:128186002 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.658C>T (p.Arg220Trp) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000703] |
Chr2:127426207 [GRCh38]
Chr2:128183783 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
Reduced protein C activity [RCV000852185]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000704]|not provided [RCV002223748] |
Chr2:127426208 [GRCh38]
Chr2:128183784 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| PROC, 1-BP DEL, 8857G |
deletion |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000705] |
Chr2:2q13-q14 |
pathogenic |
| NM_000312.4(PROC):c.814C>T (p.Arg272Cys) |
single nucleotide variant |
Thromboembolism [RCV000852227]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000706] |
Chr2:127428374 [GRCh38]
Chr2:128185950 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) |
insertion |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000707] |
Chr2:127426101..127426102 [GRCh38]
Chr2:128183677..128183678 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.678+9C>T |
single nucleotide variant |
Reduced protein C activity [RCV002243609]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000708] |
Chr2:127426236 [GRCh38]
Chr2:128183812 [GRCh37]
Chr2:2q14.3 |
pathogenic|uncertain significance |
| NM_000312.4(PROC):c.678G>C (p.Gln226His) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000709] |
Chr2:127426227 [GRCh38]
Chr2:128183803 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.793C>T (p.Leu265Phe) |
single nucleotide variant |
Deep venous thrombosis [RCV000851884]|Reduced protein C activity [RCV000851885]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132310]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000710] |
Chr2:127427219 [GRCh38]
Chr2:128184795 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000312.4(PROC):c.1335C>G (p.Ile445Met) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000711] |
Chr2:127428895 [GRCh38]
Chr2:128186471 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1015G>A (p.Val339Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001266003]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000712]|not provided [RCV001781151] |
Chr2:127428575 [GRCh38]
Chr2:128186151 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NG_016323.1:g.5006T>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000713] |
Chr2:127418425 [GRCh38]
Chr2:128176001 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.446A>C (p.His149Pro) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000714] |
Chr2:127423319 [GRCh38]
Chr2:128180895 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.935C>T (p.Ser312Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000715] |
Chr2:127428495 [GRCh38]
Chr2:128186071 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 |
copy number loss |
See cases [RCV000054058] |
Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3 |
pathogenic |
| GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 |
copy number loss |
See cases [RCV000054059] |
Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 |
copy number loss |
See cases [RCV000054060] |
Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1216A>G (p.Met406Val) |
single nucleotide variant |
not provided [RCV000657992] |
Chr2:127428776 [GRCh38]
Chr2:128186352 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.125G>A (p.Arg42His) |
single nucleotide variant |
Deep venous thrombosis [RCV000851677]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148739] |
Chr2:127421337 [GRCh38]
Chr2:128178913 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) |
single nucleotide variant |
Reduced protein C activity [RCV000851669]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148740] |
Chr2:127428761 [GRCh38]
Chr2:128186337 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.322C>A (p.His108Asn) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148741]|not provided [RCV000997201] |
Chr2:127423093 [GRCh38]
Chr2:128180669 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1234G>A (p.Gly412Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148742] |
Chr2:127428794 [GRCh38]
Chr2:128186370 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.52G>A (p.Gly18Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148743] |
Chr2:127419994 [GRCh38]
Chr2:128177570 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.160A>T (p.Ser54Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148744] |
Chr2:127421372 [GRCh38]
Chr2:128178948 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.580C>T (p.Arg194Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148745]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001270053] |
Chr2:127426129 [GRCh38]
Chr2:128183705 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1010C>T (p.Thr337Ile) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148746] |
Chr2:127428570 [GRCh38]
Chr2:128186146 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.340G>C (p.Gly114Arg) |
single nucleotide variant |
Reduced protein C activity [RCV002243820]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148747] |
Chr2:127423111 [GRCh38]
Chr2:128180687 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.565C>T (p.Arg189Trp) |
single nucleotide variant |
Reduced protein C activity [RCV000851825]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148748]|not provided [RCV001090272] |
Chr2:127426114 [GRCh38]
Chr2:128183690 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 |
copy number loss |
See cases [RCV000135455] |
Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 |
copy number loss |
See cases [RCV000136714] |
Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1 |
pathogenic |
| GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 |
copy number loss |
See cases [RCV000137467] |
Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1 |
likely pathogenic |
| GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 |
copy number gain |
See cases [RCV000138369] |
Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1 |
uncertain significance |
| GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 |
copy number loss |
See cases [RCV000141584] |
Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3 |
pathogenic |
| NM_000312.4(PROC):c.169C>T (p.Arg57Trp) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000168170]|not provided [RCV000490205] |
Chr2:127421381 [GRCh38]
Chr2:128178957 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.678+10G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000391218]|not specified [RCV001823725] |
Chr2:127426237 [GRCh38]
Chr2:128183813 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.927C>T (p.Ala309=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000405201] |
Chr2:127428487 [GRCh38]
Chr2:128186063 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.1161T>C (p.Cys387=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000406034] |
Chr2:127428721 [GRCh38]
Chr2:128186297 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.400+13G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000273797] |
Chr2:127423184 [GRCh38]
Chr2:128180760 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000312.4(PROC):c.-21-5C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000276861]|not provided [RCV000997200] |
Chr2:127419917 [GRCh38]
Chr2:128177493 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000312.4(PROC):c.630G>A (p.Pro210=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000379881] |
Chr2:127426179 [GRCh38]
Chr2:128183755 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.399C>T (p.Arg133=) |
single nucleotide variant |
Reduced protein C activity [RCV002244806]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000368434] |
Chr2:127423170 [GRCh38]
Chr2:128180746 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000312.4(PROC):c.1107G>A (p.Pro369=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000369880] |
Chr2:127428667 [GRCh38]
Chr2:128186243 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.1299C>T (p.Gly433=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000205093]|not provided [RCV001091550] |
Chr2:127428859 [GRCh38]
Chr2:128186435 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) |
single nucleotide variant |
Reduced protein C activity [RCV000851673]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000232324] |
Chr2:127428797 [GRCh38]
Chr2:128186373 [GRCh37]
Chr2:2q14.3 |
likely pathogenic|uncertain significance |
| NM_000312.4(PROC):c.286C>T (p.Pro96Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000226072] |
Chr2:127423057 [GRCh38]
Chr2:128180633 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.91G>A (p.Glu31Lys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000226874] |
Chr2:127421303 [GRCh38]
Chr2:128178879 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.891C>T (p.Asp297=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000233040] |
Chr2:127428451 [GRCh38]
Chr2:128186027 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.1065C>T (p.Asn355=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000315159] |
Chr2:127428625 [GRCh38]
Chr2:128186201 [GRCh37]
Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.66T>C (p.Pro22=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000332512] |
Chr2:127420008 [GRCh38]
Chr2:128177584 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.666C>G (p.Asp222Glu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000339693] |
Chr2:127426215 [GRCh38]
Chr2:128183791 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.-50A>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000298504]|not provided [RCV001357527]|not specified [RCV000246100] |
Chr2:127418464 [GRCh38]
Chr2:128176040 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|uncertain significance |
| NM_000312.4(PROC):c.423G>T (p.Ser141=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000328858]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001789244]|not provided [RCV001706294]|not specified [RCV000251026] |
Chr2:127423296 [GRCh38]
Chr2:128180872 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000312.4(PROC):c.768T>C (p.Asp256=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000280967]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001789245]|not provided [RCV001356271]|not specified [RCV000241792] |
Chr2:127427194 [GRCh38]
Chr2:128184770 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|uncertain significance |
| NM_000312.4(PROC):c.*146T>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000271984] |
Chr2:127429092 [GRCh38]
Chr2:128186668 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.-33C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000353422] |
Chr2:127418481 [GRCh38]
Chr2:128176057 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.*170G>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000308458] |
Chr2:127429116 [GRCh38]
Chr2:128186692 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1043G>A (p.Arg348Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000490417] |
Chr2:127428603 [GRCh38]
Chr2:128186179 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000312.4(PROC):c.30C>T (p.Phe10=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000526936]|not provided [RCV002225658] |
Chr2:127419972 [GRCh38]
Chr2:128177548 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.*220G>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000363170] |
Chr2:127429166 [GRCh38]
Chr2:128186742 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1318C>T (p.Arg440Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000366599] |
Chr2:127428878 [GRCh38]
Chr2:128186454 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.602C>T (p.Thr201Ile) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000325296] |
Chr2:127426151 [GRCh38]
Chr2:128183727 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) |
microsatellite |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000288890]|not provided [RCV001310433] |
Chr2:127426121..127426123 [GRCh38]
Chr2:128183697..128183699 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.-55C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000396232] |
Chr2:127418459 [GRCh38]
Chr2:128176035 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.596G>A (p.Arg199Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000551864] |
Chr2:127426145 [GRCh38]
Chr2:128183721 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.805G>C (p.Asp269His) |
single nucleotide variant |
not provided [RCV000766107] |
Chr2:127428365 [GRCh38]
Chr2:128185941 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.352T>C (p.Phe118Leu) |
single nucleotide variant |
Deep venous thrombosis [RCV000851641]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000541810] |
Chr2:127423123 [GRCh38]
Chr2:128180699 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1212dup (p.Pro405fs) |
duplication |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000468802] |
Chr2:127428766..127428767 [GRCh38]
Chr2:128186342..128186343 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000312.4(PROC):c.811C>T (p.Arg271Trp) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645701] |
Chr2:127428371 [GRCh38]
Chr2:128185947 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.238-1G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645702] |
Chr2:127422916 [GRCh38]
Chr2:128180492 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.536-6C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645703] |
Chr2:127426079 [GRCh38]
Chr2:128183655 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.1272G>A (p.Glu424=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134698]|not provided [RCV000645704] |
Chr2:127428832 [GRCh38]
Chr2:128186408 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.51C>T (p.Ser17=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645705] |
Chr2:127419993 [GRCh38]
Chr2:128177569 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1212G>A (p.Gly404=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645706] |
Chr2:127428772 [GRCh38]
Chr2:128186348 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1174G>A (p.Gly392Arg) |
single nucleotide variant |
not provided [RCV000595447] |
Chr2:127428734 [GRCh38]
Chr2:128186310 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.799G>A (p.Glu267Lys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000540892] |
Chr2:127428359 [GRCh38]
Chr2:128185935 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| NM_000312.4(PROC):c.340G>T (p.Gly114Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000625577] |
Chr2:127423111 [GRCh38]
Chr2:128180687 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.534A>G (p.Ala178=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645699] |
Chr2:127423407 [GRCh38]
Chr2:128180983 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.548G>T (p.Cys183Phe) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645700] |
Chr2:127426097 [GRCh38]
Chr2:128183673 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 |
copy number loss |
See cases [RCV000512348] |
Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1 |
pathogenic |
| NM_000312.3(PROC):c.-97_-91delGTTATGG |
deletion |
not provided [RCV000657991] |
Chr2:127418416..127418422 [GRCh38]
Chr2:128175992..128175998 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1213C>T (p.Pro405Ser) |
single nucleotide variant |
not provided [RCV000677123] |
Chr2:127428773 [GRCh38]
Chr2:128186349 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| NM_000312.4(PROC):c.156C>G (p.His52Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000686566] |
Chr2:127421368 [GRCh38]
Chr2:128178944 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1019C>T (p.Thr340Met) |
single nucleotide variant |
Reduced protein C activity [RCV002245610]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000702555] |
Chr2:127428579 [GRCh38]
Chr2:128186155 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000312.4(PROC):c.388T>C (p.Phe130Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000688378] |
Chr2:127423159 [GRCh38]
Chr2:128180735 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.970G>A (p.Gly324Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000689216] |
Chr2:127428530 [GRCh38]
Chr2:128186106 [GRCh37]
Chr2:2q14.3 |
likely pathogenic|uncertain significance |
| NM_000312.4(PROC):c.1242G>A (p.Trp414Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000702225] |
Chr2:127428802 [GRCh38]
Chr2:128186378 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.962C>T (p.Pro321Leu) |
single nucleotide variant |
Deep venous thrombosis [RCV000851918]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000689154] |
Chr2:127428522 [GRCh38]
Chr2:128186098 [GRCh37]
Chr2:2q14.3 |
likely pathogenic|uncertain significance |
| NM_000312.4(PROC):c.1368del (p.Lys457fs) |
deletion |
Reduced protein C activity [RCV000851689] |
Chr2:127428928 [GRCh38]
Chr2:128186504 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1163C>T (p.Ala388Val) |
single nucleotide variant |
Reduced protein C activity [RCV000852001]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221155]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000984956] |
Chr2:127428723 [GRCh38]
Chr2:128186299 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.524G>A (p.Cys175Tyr) |
single nucleotide variant |
Reduced protein C activity [RCV000852149] |
Chr2:127423397 [GRCh38]
Chr2:128180973 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000312.4(PROC):c.1166G>C (p.Gly389Ala) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000761311] |
Chr2:127428726 [GRCh38]
Chr2:128186302 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.199G>A (p.Glu67Lys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000761310] |
Chr2:127421411 [GRCh38]
Chr2:128178987 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1111A>G (p.Asn371Asp) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000865274] |
Chr2:127428671 [GRCh38]
Chr2:128186247 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.969C>T (p.Ser323=) |
single nucleotide variant |
not provided [RCV000869082] |
Chr2:127428529 [GRCh38]
Chr2:128186105 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1326C>T (p.Leu442=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000877532] |
Chr2:127428886 [GRCh38]
Chr2:128186462 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.238-2A>G |
single nucleotide variant |
Thromboembolism [RCV000851746] |
Chr2:127422915 [GRCh38]
Chr2:128180491 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) |
single nucleotide variant |
Reduced protein C activity [RCV000851793] |
Chr2:127423313 [GRCh38]
Chr2:128180889 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.673T>G (p.Trp225Gly) |
single nucleotide variant |
Deep venous thrombosis [RCV000851848] |
Chr2:127426222 [GRCh38]
Chr2:128183798 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.263-4G>A |
single nucleotide variant |
Reduced protein C activity [RCV002245714]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001416063]|not provided [RCV000862891] |
Chr2:127423030 [GRCh38]
Chr2:128180606 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000312.4(PROC):c.900C>T (p.Ile300=) |
single nucleotide variant |
not provided [RCV000865927] |
Chr2:127428460 [GRCh38]
Chr2:128186036 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.300G>A (p.Pro100=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001488987]|not provided [RCV000978830] |
Chr2:127423071 [GRCh38]
Chr2:128180647 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.924C>T (p.Pro308=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000861331] |
Chr2:127428484 [GRCh38]
Chr2:128186060 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000312.4(PROC):c.400+1G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000818570] |
Chr2:127423172 [GRCh38]
Chr2:128180748 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.889G>C (p.Asp297His) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000821496] |
Chr2:127428449 [GRCh38]
Chr2:128186025 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.723G>T (p.Val241=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132308] |
Chr2:127427149 [GRCh38]
Chr2:128184725 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.-54G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134594] |
Chr2:127418460 [GRCh38]
Chr2:128176036 [GRCh37]
Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.70+13C>G |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134595] |
Chr2:127420025 [GRCh38]
Chr2:128177601 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1019C>A (p.Thr340Lys) |
single nucleotide variant |
Reduced protein C activity [RCV000851961] |
Chr2:127428579 [GRCh38]
Chr2:128186155 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.386G>A (p.Arg129His) |
single nucleotide variant |
Deep venous thrombosis [RCV000851987]|Deep venous thrombosis [RCV000851988]|not provided [RCV001357357] |
Chr2:127423157 [GRCh38]
Chr2:128180733 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.325G>T (p.Gly109Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV000824240] |
Chr2:127423096 [GRCh38]
Chr2:128180672 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.462G>A (p.Glu154=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001434853]|not provided [RCV000860624] |
Chr2:127423335 [GRCh38]
Chr2:128180911 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1296C>T (p.Tyr432=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001486557]|not provided [RCV000863010] |
Chr2:127428856 [GRCh38]
Chr2:128186432 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1248G>T (p.Leu416=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134697] |
Chr2:127428808 [GRCh38]
Chr2:128186384 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.*81T>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134700] |
Chr2:127429027 [GRCh38]
Chr2:128186603 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.660G>A (p.Arg220=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132307] |
Chr2:127426209 [GRCh38]
Chr2:128183785 [GRCh37]
Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.730C>T (p.His244Tyr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001208790]|not provided [RCV000997202] |
Chr2:127427156 [GRCh38]
Chr2:128184732 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.566G>A (p.Arg189Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129573] |
Chr2:127426115 [GRCh38]
Chr2:128183691 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1331G>A (p.Trp444Ter) |
single nucleotide variant |
Reduced protein C activity [RCV000851681] |
Chr2:127428891 [GRCh38]
Chr2:128186467 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs) |
duplication |
Reduced protein C activity [RCV000851692] |
Chr2:127428937..127428938 [GRCh38]
Chr2:128186513..128186514 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1155G>A (p.Met385Ile) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001202927] |
Chr2:127428715 [GRCh38]
Chr2:128186291 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.982C>T (p.Arg328Cys) |
single nucleotide variant |
Reduced protein C activity [RCV000851922]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001869073] |
Chr2:127428542 [GRCh38]
Chr2:128186118 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.206C>T (p.Ala69Val) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001238309] |
Chr2:127421418 [GRCh38]
Chr2:128178994 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.678G>A (p.Gln226=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001219262] |
Chr2:127426227 [GRCh38]
Chr2:128183803 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.571G>C (p.Glu191Gln) |
single nucleotide variant |
Deep venous thrombosis [RCV000851828] |
Chr2:127426120 [GRCh38]
Chr2:128183696 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.797-2A>T |
single nucleotide variant |
Reduced protein C activity [RCV000851888] |
Chr2:127428355 [GRCh38]
Chr2:128185931 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1313T>C (p.Val438Ala) |
single nucleotide variant |
Reduced protein C activity [RCV000852016] |
Chr2:127428873 [GRCh38]
Chr2:128186449 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.532G>C (p.Ala178Pro) |
single nucleotide variant |
Reduced protein C activity [RCV000852153] |
Chr2:127423405 [GRCh38]
Chr2:128180981 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.715G>A (p.Gly239Arg) |
single nucleotide variant |
Deep venous thrombosis [RCV000852197] |
Chr2:127427141 [GRCh38]
Chr2:128184717 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.819G>T (p.Trp273Cys) |
single nucleotide variant |
Reduced protein C activity [RCV000852231] |
Chr2:127428379 [GRCh38]
Chr2:128185955 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.908T>G (p.Leu303Arg) |
single nucleotide variant |
Reduced protein C activity [RCV000852242] |
Chr2:127428468 [GRCh38]
Chr2:128186044 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.752C>T (p.Ala251Val) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000999470] |
Chr2:127427178 [GRCh38]
Chr2:128184754 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.76G>A (p.Val26Met) |
single nucleotide variant |
Reduced protein C activity [RCV000851876] |
Chr2:127421288 [GRCh38]
Chr2:128178864 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.421T>C (p.Ser141Pro) |
single nucleotide variant |
Reduced protein C activity [RCV000852122] |
Chr2:127423294 [GRCh38]
Chr2:128180870 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.888C>T (p.Thr296=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001133238] |
Chr2:127428448 [GRCh38]
Chr2:128186024 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.785T>C (p.Leu262Pro) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132309] |
Chr2:127427211 [GRCh38]
Chr2:128184787 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.797-345T>G |
single nucleotide variant |
not provided [RCV001645125] |
Chr2:127428012 [GRCh38]
Chr2:128185588 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.238-272A>G |
single nucleotide variant |
not provided [RCV001654079] |
Chr2:127422645 [GRCh38]
Chr2:128180221 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.60A>G (p.Pro20=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001441158]|not provided [RCV000862322] |
Chr2:127420002 [GRCh38]
Chr2:128177578 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal recessive [RCV000984471] |
Chr2:127421325 [GRCh38]
Chr2:128178901 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.936G>A (p.Ser312=) |
single nucleotide variant |
not provided [RCV000931333] |
Chr2:127428496 [GRCh38]
Chr2:128186072 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.400+6G>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129572]|not provided [RCV000861091] |
Chr2:127423177 [GRCh38]
Chr2:128180753 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.862C>T (p.His288Tyr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001248804] |
Chr2:127428422 [GRCh38]
Chr2:128185998 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.740G>A (p.Trp247Ter) |
single nucleotide variant |
not provided [RCV001090273] |
Chr2:127427166 [GRCh38]
Chr2:128184742 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.*72C>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134699] |
Chr2:127429018 [GRCh38]
Chr2:128186594 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.468C>T (p.Gly156=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001446191]|not provided [RCV000934872] |
Chr2:127423341 [GRCh38]
Chr2:128180917 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.237+301G>A |
single nucleotide variant |
not provided [RCV001660836] |
Chr2:127421750 [GRCh38]
Chr2:128179326 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.642T>C (p.Asp214=) |
single nucleotide variant |
not provided [RCV001532405] |
Chr2:127426191 [GRCh38]
Chr2:128183767 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.797-245T>C |
single nucleotide variant |
not provided [RCV001657045] |
Chr2:127428112 [GRCh38]
Chr2:128185688 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.535+44A>G |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001789493]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001789494]|not provided [RCV001659625] |
Chr2:127423452 [GRCh38]
Chr2:128181028 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.-21-121C>T |
single nucleotide variant |
not provided [RCV001595420] |
Chr2:127419801 [GRCh38]
Chr2:128177377 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.945A>G (p.Ile315Met) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001071097] |
Chr2:127428505 [GRCh38]
Chr2:128186081 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.282C>T (p.Val94=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129571] |
Chr2:127423053 [GRCh38]
Chr2:128180629 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.697AAG[2] (p.Lys235del) |
microsatellite |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001049740] |
Chr2:127427123..127427125 [GRCh38]
Chr2:128184699..128184701 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.*152T>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129692] |
Chr2:127429098 [GRCh38]
Chr2:128186674 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.*176T>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129693] |
Chr2:127429122 [GRCh38]
Chr2:128186698 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 |
copy number loss |
See cases [RCV001194541] |
Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2 |
likely pathogenic |
| NM_000312.4(PROC):c.678+111G>T |
single nucleotide variant |
not provided [RCV001611563] |
Chr2:127426338 [GRCh38]
Chr2:128183914 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.536-214A>G |
single nucleotide variant |
not provided [RCV001680214] |
Chr2:127425871 [GRCh38]
Chr2:128183447 [GRCh37]
Chr2:2q14.3 |
benign |
| Single allele |
deletion |
See cases [RCV001568390] |
Chr2:124348648..129410245 [GRCh38]
Chr2:2q14.3-21.1 |
not provided |
| NM_000312.4(PROC):c.916G>T (p.Ala306Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001208438] |
Chr2:127428476 [GRCh38]
Chr2:128186052 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.245T>C (p.Phe82Ser) |
single nucleotide variant |
Hereditary angioedema with normal C1Inh [RCV001027424] |
Chr2:127422924 [GRCh38]
Chr2:128180500 [GRCh37]
Chr2:2q14.3 |
not provided |
| NM_000312.4(PROC):c.41G>A (p.Trp14Ter) |
single nucleotide variant |
Reduced protein C activity [RCV002245902]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001248247] |
Chr2:127419983 [GRCh38]
Chr2:128177559 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001219261] |
Chr2:127428893 [GRCh38]
Chr2:128186469 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001133239] |
Chr2:127428801 [GRCh38]
Chr2:128186377 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NC_000002.12:g.127418364_127418365del |
deletion |
not provided [RCV001027532] |
Chr2:127418363..127418364 [GRCh38]
Chr2:128175939..128175940 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.124C>T (p.Arg42Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001379312]|not provided [RCV001200134] |
Chr2:127421336 [GRCh38]
Chr2:128178912 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000312.4(PROC):c.595C>T (p.Arg199Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001040855]|not provided [RCV001200135] |
Chr2:127426144 [GRCh38]
Chr2:128183720 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.326_330dup (p.Cys111fs) |
microsatellite |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001039540] |
Chr2:127423090..127423091 [GRCh38]
Chr2:128180666..128180667 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1074C>A (p.Phe358Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001063824] |
Chr2:127428634 [GRCh38]
Chr2:128186210 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) |
deletion |
Inborn genetic diseases [RCV001266004]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001880107] |
Chr2:127423125..127423142 [GRCh38]
Chr2:128180701..128180718 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.632G>T (p.Arg211Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001343833] |
Chr2:127426181 [GRCh38]
Chr2:128183757 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.400+5G>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001270878] |
Chr2:127423176 [GRCh38]
Chr2:128180752 [GRCh37]
Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000312.4(PROC):c.299C>G (p.Pro100Arg) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001296017] |
Chr2:127423070 [GRCh38]
Chr2:128180646 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.118C>T (p.Arg40Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001347080] |
Chr2:127421330 [GRCh38]
Chr2:128178906 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.718G>A (p.Ala240Thr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353250] |
Chr2:127427144 [GRCh38]
Chr2:128184720 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.632G>A (p.Arg211Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353251] |
Chr2:127426181 [GRCh38]
Chr2:128183757 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1110C>A (p.His370Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001307199] |
Chr2:127428670 [GRCh38]
Chr2:128186246 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1120A>G (p.Ser374Gly) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001323593] |
Chr2:127428680 [GRCh38]
Chr2:128186256 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.479G>C (p.Cys160Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353253] |
Chr2:127423352 [GRCh38]
Chr2:128180928 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.205G>A (p.Ala69Thr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001366397] |
Chr2:127421417 [GRCh38]
Chr2:128178993 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.132C>T (p.Asn44=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001412749] |
Chr2:127421344 [GRCh38]
Chr2:128178920 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.400+2T>C |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353252] |
Chr2:127423173 [GRCh38]
Chr2:128180749 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.400G>T (p.Glu134Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001387152] |
Chr2:127423171 [GRCh38]
Chr2:128180747 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.876C>G (p.Ser292Arg) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001491012] |
Chr2:127428436 [GRCh38]
Chr2:128186012 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.400+9dup |
duplication |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001521279] |
Chr2:127423175..127423176 [GRCh38]
Chr2:128180751..128180752 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.1233C>T (p.His411=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001491798] |
Chr2:127428793 [GRCh38]
Chr2:128186369 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1338T>C (p.His446=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001401939] |
Chr2:127428898 [GRCh38]
Chr2:128186474 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001378201]|not provided [RCV001509161] |
Chr2:127428666 [GRCh38]
Chr2:128186242 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000312.4(PROC):c.702G>A (p.Lys234=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001411052] |
Chr2:127427128 [GRCh38]
Chr2:128184704 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.70+7C>G |
single nucleotide variant |
not provided [RCV001509160] |
Chr2:127420019 [GRCh38]
Chr2:128177595 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.536-316G>C |
single nucleotide variant |
not provided [RCV001654842] |
Chr2:127425769 [GRCh38]
Chr2:128183345 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.780G>A (p.Lys260=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001504654] |
Chr2:127427206 [GRCh38]
Chr2:128184782 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.139C>T (p.Leu47=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001485838] |
Chr2:127421351 [GRCh38]
Chr2:128178927 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.810G>C (p.Leu270=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001451056]|not specified [RCV001823773] |
Chr2:127428370 [GRCh38]
Chr2:128185946 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NC_000002.11:g.128175862C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001509734] |
Chr2:127418286 [GRCh38]
Chr2:128175862 [GRCh37]
Chr2:2q14.3 |
benign |
| NC_000002.11:g.128175875G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001509735] |
Chr2:127418299 [GRCh38]
Chr2:128175875 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.528C>T (p.His176=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001486089] |
Chr2:127423401 [GRCh38]
Chr2:128180977 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.39C>T (p.Thr13=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001406857] |
Chr2:127419981 [GRCh38]
Chr2:128177557 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.561G>A (p.Trp187Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001380376] |
Chr2:127426110 [GRCh38]
Chr2:128183686 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.520C>T (p.Gln174Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001387153] |
Chr2:127423393 [GRCh38]
Chr2:128180969 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1099G>A (p.Val367Met) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001378884] |
Chr2:127428659 [GRCh38]
Chr2:128186235 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.852G>A (p.Glu284=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001430246] |
Chr2:127428412 [GRCh38]
Chr2:128185988 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1077C>G (p.Val359=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001424471] |
Chr2:127428637 [GRCh38]
Chr2:128186213 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.112C>T (p.Arg38Trp) |
single nucleotide variant |
not provided [RCV001727153] |
Chr2:127421324 [GRCh38]
Chr2:128178900 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1267G>A (p.Gly423Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001731126] |
Chr2:127428827 [GRCh38]
Chr2:128186403 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.752C>A (p.Ala251Glu) |
single nucleotide variant |
Reduced protein C activity [RCV002245354] |
Chr2:127427178 [GRCh38]
Chr2:128184754 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.508G>T (p.Asp170Tyr) |
single nucleotide variant |
Reduced protein C activity [RCV002245356] |
Chr2:127423381 [GRCh38]
Chr2:128180957 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.673T>C (p.Trp225Arg) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801306] |
Chr2:127426222 [GRCh38]
Chr2:128183798 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.433G>A (p.Gly145Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801313] |
Chr2:127423306 [GRCh38]
Chr2:128180882 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.1154T>C (p.Met385Thr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801314] |
Chr2:127428714 [GRCh38]
Chr2:128186290 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.983G>A (p.Arg328His) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801320] |
Chr2:127428543 [GRCh38]
Chr2:128186119 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.713G>C (p.Cys238Ser) |
single nucleotide variant |
not provided [RCV001756685] |
Chr2:127427139 [GRCh38]
Chr2:128184715 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.127G>A (p.Ala43Thr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801321] |
Chr2:127421339 [GRCh38]
Chr2:128178915 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.329C>G (p.Thr110Arg) |
single nucleotide variant |
not provided [RCV001756681] |
Chr2:127423100 [GRCh38]
Chr2:128180676 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1066C>T (p.Arg356Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001987798] |
Chr2:127428626 [GRCh38]
Chr2:128186202 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.419G>C (p.Cys140Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002025191] |
Chr2:127423292 [GRCh38]
Chr2:128180868 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.677A>G (p.Gln226Arg) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001929009] |
Chr2:127426226 [GRCh38]
Chr2:128183802 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.31G>A (p.Val11Met) |
single nucleotide variant |
not specified [RCV001823818] |
Chr2:127419973 [GRCh38]
Chr2:128177549 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1195G>A (p.Glu399Lys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001909695] |
Chr2:127428755 [GRCh38]
Chr2:128186331 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1297G>A (p.Gly433Ser) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001909209] |
Chr2:127428857 [GRCh38]
Chr2:128186433 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 |
copy number gain |
not provided [RCV001832896] |
Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| GRCh37/hg19 2q14.3(chr2:128024782-129332242) |
copy number gain |
not specified [RCV002053228] |
Chr2:128024782..129332242 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.541T>G (p.Phe181Val) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001927369] |
Chr2:127426090 [GRCh38]
Chr2:128183666 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NC_000002.11:g.(?_127806102)_(128432598_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2W [RCV001928002]|Myopathy, centronuclear, 2 [RCV001916346] |
Chr2:127806102..128432598 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.675G>A (p.Trp225Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001914156] |
Chr2:127426224 [GRCh38]
Chr2:128183800 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1218G>A (p.Met406Ile) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001946007] |
Chr2:127428778 [GRCh38]
Chr2:128186354 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.263-28T>G |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001909626] |
Chr2:127423006 [GRCh38]
Chr2:128180582 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 |
copy number loss |
not provided [RCV001832883] |
Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2 |
pathogenic |
| NM_000312.4(PROC):c.303C>A (p.Cys101Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001942304] |
Chr2:127423074 [GRCh38]
Chr2:128180650 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.445dup (p.His149fs) |
duplication |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001898011] |
Chr2:127423317..127423318 [GRCh38]
Chr2:128180893..128180894 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.881G>A (p.Ser294Asn) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001995748] |
Chr2:127428441 [GRCh38]
Chr2:128186017 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1266G>A (p.Trp422Ter) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001920132] |
Chr2:127428826 [GRCh38]
Chr2:128186402 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1305del (p.Val434_Tyr435insTer) |
deletion |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001880844] |
Chr2:127428865 [GRCh38]
Chr2:128186441 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.372C>G (p.Ser124Arg) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001940604] |
Chr2:127423143 [GRCh38]
Chr2:128180719 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1000G>T (p.Gly334Cys) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV001866931] |
Chr2:127428560 [GRCh38]
Chr2:128186136 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.489G>A (p.Ala163=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002168595] |
Chr2:127423362 [GRCh38]
Chr2:128180938 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.262+1G>A |
single nucleotide variant |
not provided [RCV002224698] |
Chr2:127422942 [GRCh38]
Chr2:128180518 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 |
copy number gain |
2q13q22.3 microduplication syndrome [RCV002226436] |
Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| NM_000312.4(PROC):c.714C>T (p.Cys238=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002089324] |
Chr2:127427140 [GRCh38]
Chr2:128184716 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.541T>C (p.Phe181Leu) |
single nucleotide variant |
not provided [RCV002223411] |
Chr2:127426090 [GRCh38]
Chr2:128183666 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1122C>T (p.Ser374=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002093342] |
Chr2:127428682 [GRCh38]
Chr2:128186258 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1080C>G (p.Leu360=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002151498] |
Chr2:127428640 [GRCh38]
Chr2:128186216 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.837C>T (p.Asp279=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002079758] |
Chr2:127428397 [GRCh38]
Chr2:128185973 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.797-4G>A |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002108800] |
Chr2:127428353 [GRCh38]
Chr2:128185929 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.848AGG[1] (p.Glu284del) |
microsatellite |
Reduced protein C activity [RCV002245352] |
Chr2:127428408..127428410 [GRCh38]
Chr2:128185984..128185986 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.1230C>T (p.Phe410=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002154820] |
Chr2:127428790 [GRCh38]
Chr2:128186366 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.535+13dup |
duplication |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002199500] |
Chr2:127423416..127423417 [GRCh38]
Chr2:128180992..128180993 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000312.4(PROC):c.1084T>A (p.Phe362Ile) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002223118] |
Chr2:127428644 [GRCh38]
Chr2:128186220 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.535+9C>T |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002121928] |
Chr2:127423417 [GRCh38]
Chr2:128180993 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.151C>T (p.Arg51Cys) |
single nucleotide variant |
not provided [RCV002222311] |
Chr2:127421363 [GRCh38]
Chr2:128178939 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000312.4(PROC):c.1293del (p.Tyr432fs) |
deletion |
not provided [RCV002222313] |
Chr2:127428853 [GRCh38]
Chr2:128186429 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.703A>C (p.Lys235Gln) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221176]|not specified [RCV002246694] |
Chr2:127427129 [GRCh38]
Chr2:128184705 [GRCh37]
Chr2:2q14.3 |
likely pathogenic|uncertain significance |
| NM_000312.4(PROC):c.638T>C (p.Ile213Thr) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221177] |
Chr2:127426187 [GRCh38]
Chr2:128183763 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.547T>C (p.Cys183Arg) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221178] |
Chr2:127426096 [GRCh38]
Chr2:128183672 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000312.4(PROC):c.472C>T (p.Arg158Trp) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221179] |
Chr2:127423345 [GRCh38]
Chr2:128180921 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.735C>G (p.Pro245=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002181382] |
Chr2:127427161 [GRCh38]
Chr2:128184737 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.1164G>A (p.Ala388=) |
single nucleotide variant |
Thrombophilia due to protein C deficiency, autosomal dominant [RCV002201245] |
Chr2:127428724 [GRCh38]
Chr2:128186300 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000312.4(PROC):c.759C>A (p.His253Gln) |
single nucleotide variant |
Reduced protein C activity [RCV002245353] |
Chr2:127427185 [GRCh38]
Chr2:128184761 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000312.4(PROC):c.659G>C (p.Arg220Pro) |
single nucleotide variant |
Reduced protein C activity [RCV002245355] |
Chr2:127426208 [GRCh38]
Chr2:128183784 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
