| NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000017578] |
Chr2:85553045 [GRCh38]
Chr2:85780168 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000017579] |
Chr2:85551919 [GRCh38]
Chr2:85779042 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.899C>T (p.Ser300Phe) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017580]|not provided [RCV001851892] |
Chr2:85553488 [GRCh38]
Chr2:85780611 [GRCh37]
Chr2:2p11.2 |
pathogenic|uncertain significance |
| NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000017581]|not provided [RCV003556035] |
Chr2:85551967 [GRCh38]
Chr2:85779090 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.215-1G>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000017582] |
Chr2:85559076 [GRCh38]
Chr2:85786199 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.896T>C (p.Phe299Ser) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017583] |
Chr2:85553491 [GRCh38]
Chr2:85780614 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017584] |
Chr2:85551548 [GRCh38]
Chr2:85778671 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017585] |
Chr2:85551943 [GRCh38]
Chr2:85779066 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017586] |
Chr2:85553267 [GRCh38]
Chr2:85780390 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| G537Y |
variation |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017587] |
Chr2:2p12 |
pathogenic |
| NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017588] |
Chr2:85552429 [GRCh38]
Chr2:85779552 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1427G>A (p.Arg476His) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017589] |
Chr2:85552428 [GRCh38]
Chr2:85779551 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.763G>A (p.Val255Met) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV000017590]|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV001824572]|not provided [RCV001851893] |
Chr2:85554269 [GRCh38]
Chr2:85781392 [GRCh37]
Chr2:2p11.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000821.7(GGCX):c.725+20G>T |
single nucleotide variant |
not provided [RCV001564872] |
Chr2:85555464 [GRCh38]
Chr2:85782587 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 |
copy number gain |
See cases [RCV000134786] |
Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2 |
pathogenic |
| GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2 |
uncertain significance |
| GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 |
copy number loss |
See cases [RCV000141948] |
Chr2:85014686..88826619 [GRCh38]
Chr2:85241809..89126132 [GRCh37]
Chr2:85095320..88907247 [NCBI36]
Chr2:2p11.2 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| NM_000821.7(GGCX):c.*3071T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000260168]|not provided [RCV004708686] |
Chr2:85546863 [GRCh38]
Chr2:85773986 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.849G>C (p.Val283=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000262362]|not provided [RCV002057716] |
Chr2:85554183 [GRCh38]
Chr2:85781306 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.*165A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000263477] |
Chr2:85549769 [GRCh38]
Chr2:85776892 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207275] |
Chr2:85598271..85843453 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1282G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000269053] |
Chr2:85548652 [GRCh38]
Chr2:85775775 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*4726A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000278791] |
Chr2:85545208 [GRCh38]
Chr2:85772331 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.2084+12del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000284976]|not provided [RCV002519989] |
Chr2:85550543 [GRCh38]
Chr2:85777666 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.*106T>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000285984] |
Chr2:85549828 [GRCh38]
Chr2:85776951 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*781A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000279272] |
Chr2:85549153 [GRCh38]
Chr2:85776276 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*3752G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000279335]|not provided [RCV004708684] |
Chr2:85546182 [GRCh38]
Chr2:85773305 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*463G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000270586] |
Chr2:85549471 [GRCh38]
Chr2:85776594 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.539+10del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000268320]|not provided [RCV002519990] |
Chr2:85558430 [GRCh38]
Chr2:85785553 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*2974G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000268590]|not provided [RCV004708688] |
Chr2:85546960 [GRCh38]
Chr2:85774083 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*107T>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000373520]|not provided [RCV001691962] |
Chr2:85549827 [GRCh38]
Chr2:85776950 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.*218G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000374385] |
Chr2:85549716 [GRCh38]
Chr2:85776839 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3606G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000396694] |
Chr2:85546328 [GRCh38]
Chr2:85773451 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.-46C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000396803] |
Chr2:85561474 [GRCh38]
Chr2:85788597 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2285T>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000397076] |
Chr2:85547649 [GRCh38]
Chr2:85774772 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2381C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000397078]|not provided [RCV004708690] |
Chr2:85547553 [GRCh38]
Chr2:85774676 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr) |
single nucleotide variant |
GGCX-related disorder [RCV003932342]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000398188]|not provided [RCV000879256] |
Chr2:85550733 [GRCh38]
Chr2:85777856 [GRCh37]
Chr2:2p11.2 |
benign|likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*3398T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000299884]|not provided [RCV004709946] |
Chr2:85546536 [GRCh38]
Chr2:85773659 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*3431C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000315048] |
Chr2:85546503 [GRCh38]
Chr2:85773626 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*3447del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000398259] |
Chr2:85546487 [GRCh38]
Chr2:85773610 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*3401_*3402dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000399066] |
Chr2:85546531..85546532 [GRCh38]
Chr2:85773654..85773655 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*2284C>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000301164] |
Chr2:85547650 [GRCh38]
Chr2:85774773 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1492C>T (p.Arg498Cys) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000315423]|not provided [RCV001861157] |
Chr2:85551929 [GRCh38]
Chr2:85779052 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.-23C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000335894] |
Chr2:85561451 [GRCh38]
Chr2:85788574 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.6(GGCX):c.-70G>A |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000355210]|not provided [RCV004694589] |
Chr2:85561498 [GRCh38]
Chr2:85788621 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.726-4G>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000376888] |
Chr2:85554310 [GRCh38]
Chr2:85781433 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1494C>T (p.Arg498=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000399145]|not provided [RCV002057715] |
Chr2:85551927 [GRCh38]
Chr2:85779050 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.*610C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000301961] |
Chr2:85549324 [GRCh38]
Chr2:85776447 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3053A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000317695] |
Chr2:85546881 [GRCh38]
Chr2:85774004 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*4579G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000336221] |
Chr2:85545355 [GRCh38]
Chr2:85772478 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.*2925G>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000378261] |
Chr2:85547009 [GRCh38]
Chr2:85774132 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4429G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000401584]|not provided [RCV004708681] |
Chr2:85545505 [GRCh38]
Chr2:85772628 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*4895T>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000337471] |
Chr2:85545039 [GRCh38]
Chr2:85772162 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000357323]|not provided [RCV001723929] |
Chr2:85553413 [GRCh38]
Chr2:85553413..85553414 [GRCh38]
Chr2:85780536 [GRCh37]
Chr2:85780536..85780537 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*3370_*3372del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000357441] |
Chr2:85546562..85546564 [GRCh38]
Chr2:85773685..85773687 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*3647A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000379718] |
Chr2:85546287 [GRCh38]
Chr2:85773410 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1965G>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000402150] |
Chr2:85547969 [GRCh38]
Chr2:85775092 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*3805A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000319075]|not provided [RCV004708683] |
Chr2:85546129 [GRCh38]
Chr2:85773252 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*1916C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000304702] |
Chr2:85548018 [GRCh38]
Chr2:85775141 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*4509G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000339638]|not provided [RCV004708680] |
Chr2:85545425 [GRCh38]
Chr2:85772548 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*3047G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000360686]|not provided [RCV004708687] |
Chr2:85546887 [GRCh38]
Chr2:85774010 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.507T>C (p.Phe169=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000382491]|not provided [RCV002519991] |
Chr2:85558472 [GRCh38]
Chr2:85785595 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.189C>T (p.Ser63=) |
single nucleotide variant |
GGCX-related disorder [RCV003922465]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000383382]|not provided [RCV001723930] |
Chr2:85560840 [GRCh38]
Chr2:85787963 [GRCh37]
Chr2:2p11.2 |
benign|likely benign|uncertain significance |
| NM_000821.7(GGCX):c.339C>T (p.Asp113=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000288212]|not provided [RCV001613100] |
Chr2:85558951 [GRCh38]
Chr2:85786074 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*2889ACA[1] |
microsatellite |
Vitamin K-Dependent Clotting Factors [RCV000290864] |
Chr2:85547040..85547042 [GRCh38]
Chr2:85774163..85774165 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4538A>G |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000305641] |
Chr2:85545396 [GRCh38]
Chr2:85772519 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2949C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000321382]|not provided [RCV004708689] |
Chr2:85546985 [GRCh38]
Chr2:85774108 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*1721G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000322084] |
Chr2:85548213 [GRCh38]
Chr2:85775336 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.789C>T (p.Asp263=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000322165]|not provided [RCV002057717] |
Chr2:85554243 [GRCh38]
Chr2:85781366 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*598C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000340426] |
Chr2:85549336 [GRCh38]
Chr2:85776459 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3704G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000341389]|not provided [RCV004694587] |
Chr2:85546230 [GRCh38]
Chr2:85773353 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.529A>G (p.Asn177Asp) |
single nucleotide variant |
GGCX-related disorder [RCV003910308]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000323161]|not provided [RCV000907563] |
Chr2:85558450 [GRCh38]
Chr2:85785573 [GRCh37]
Chr2:2p11.2 |
benign|likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*469C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000362898] |
Chr2:85549465 [GRCh38]
Chr2:85776588 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1889-17_1889-16del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000307436]|not provided [RCV001653628] |
Chr2:85550766..85550767 [GRCh38]
Chr2:85777889..85777890 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*4047T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000307733] |
Chr2:85545887 [GRCh38]
Chr2:85773010 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*25T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000343353] |
Chr2:85549909 [GRCh38]
Chr2:85777032 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4996del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000386657] |
Chr2:85544938 [GRCh38]
Chr2:85772061 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3875C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000386921] |
Chr2:85546059 [GRCh38]
Chr2:85773182 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*902T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000386989] |
Chr2:85549032 [GRCh38]
Chr2:85776155 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*4314T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000309000] |
Chr2:85545620 [GRCh38]
Chr2:85772743 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*1698A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000365093] |
Chr2:85548236 [GRCh38]
Chr2:85775359 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.159C>A (p.Thr53=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000293731]|not provided [RCV002057718] |
Chr2:85560870 [GRCh38]
Chr2:85787993 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.*1245G>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000326442] |
Chr2:85548689 [GRCh38]
Chr2:85775812 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3416G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000367331]|not provided [RCV004708685] |
Chr2:85546518 [GRCh38]
Chr2:85773641 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.24G>A (p.Ala8=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000294993]|not provided [RCV002057719] |
Chr2:85561405 [GRCh38]
Chr2:85788528 [GRCh37]
Chr2:2p11.2 |
benign|likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*470G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000310068] |
Chr2:85549464 [GRCh38]
Chr2:85776587 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2822C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000328454] |
Chr2:85547112 [GRCh38]
Chr2:85774235 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.2081G>A (p.Arg694His) |
single nucleotide variant |
Inborn genetic diseases [RCV002523143]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000347049]|not provided [RCV002523142] |
Chr2:85550558 [GRCh38]
Chr2:85777681 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1049T>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000295998]|not provided [RCV004708691] |
Chr2:85548885 [GRCh38]
Chr2:85776008 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.198C>T (p.Val66=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000329103]|not provided [RCV003765964] |
Chr2:85560831 [GRCh38]
Chr2:85787954 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.137C>T (p.Ser46Phe) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000348551] |
Chr2:85560892 [GRCh38]
Chr2:85788015 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3996T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000369660]|not provided [RCV004708682] |
Chr2:85545938 [GRCh38]
Chr2:85773061 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.1242C>T (p.Thr414=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000370078]|not provided [RCV001672585] |
Chr2:85552984 [GRCh38]
Chr2:85780107 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*1019G>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000330108] |
Chr2:85548915 [GRCh38]
Chr2:85776038 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*839TTAA[1] |
microsatellite |
Vitamin K-Dependent Clotting Factors [RCV000371478] |
Chr2:85549088..85549091 [GRCh38]
Chr2:85776211..85776214 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4562G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000394701] |
Chr2:85545372 [GRCh38]
Chr2:85772495 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*680G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000394650] |
Chr2:85549254 [GRCh38]
Chr2:85776377 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1107C>T (p.Leu369=) |
single nucleotide variant |
GGCX-related disorder [RCV003972426]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000297724]|not provided [RCV002523144] |
Chr2:85553280 [GRCh38]
Chr2:85780403 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*225G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000331380]|not provided [RCV001675836] |
Chr2:85549709 [GRCh38]
Chr2:85776832 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.1806C>G (p.Val602=) |
single nucleotide variant |
GGCX-related disorder [RCV003910307]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000350641]|not provided [RCV000883065] |
Chr2:85551007 [GRCh38]
Chr2:85778130 [GRCh37]
Chr2:2p11.2 |
benign|likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*2408T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000350709] |
Chr2:85547526 [GRCh38]
Chr2:85774649 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3821dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000261593] |
Chr2:85546112..85546113 [GRCh38]
Chr2:85773235..85773236 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1218C>T (p.Arg406=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000261373]|not provided [RCV001613099] |
Chr2:85553008 [GRCh38]
Chr2:85780131 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*898_*900del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000280935] |
Chr2:85549034..85549036 [GRCh38]
Chr2:85776157..85776159 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3516_*3517dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000288298] |
Chr2:85546416..85546417 [GRCh38]
Chr2:85773539..85773540 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3644G>C |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000283080] |
Chr2:85546290 [GRCh38]
Chr2:85773413 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*421_*422dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000314075] |
Chr2:85549511..85549512 [GRCh38]
Chr2:85776634..85776635 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*270T>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000273937] |
Chr2:85549664 [GRCh38]
Chr2:85776787 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1736dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000264569]|not provided [RCV004694588] |
Chr2:85548197..85548198 [GRCh38]
Chr2:85775320..85775321 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*555TAAA[4] |
microsatellite |
Vitamin K-Dependent Clotting Factors [RCV000400943] |
Chr2:85549367..85549368 [GRCh38]
Chr2:85776490..85776491 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*3924A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000277421] |
Chr2:85546010 [GRCh38]
Chr2:85773133 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4215G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000268988] |
Chr2:85545719 [GRCh38]
Chr2:85772842 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2012G>A (p.Arg671His) |
single nucleotide variant |
Abnormal bleeding [RCV001270579]|not provided [RCV002541648] |
Chr2:85550627 [GRCh38]
Chr2:85777750 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1819A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000361564] |
Chr2:85548115 [GRCh38]
Chr2:85775238 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2647T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000380678] |
Chr2:85547287 [GRCh38]
Chr2:85774410 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3921G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000330054] |
Chr2:85546013 [GRCh38]
Chr2:85773136 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3517T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000345499] |
Chr2:85546417 [GRCh38]
Chr2:85773540 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2304T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000293112] |
Chr2:85547630 [GRCh38]
Chr2:85774753 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*108G>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000316600] |
Chr2:85549826 [GRCh38]
Chr2:85776949 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4995dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000294186] |
Chr2:85544938..85544939 [GRCh38]
Chr2:85772061..85772062 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4288G>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000366058] |
Chr2:85545646 [GRCh38]
Chr2:85772769 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2299C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000350368] |
Chr2:85547635 [GRCh38]
Chr2:85774758 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1186A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000387943] |
Chr2:85548748 [GRCh38]
Chr2:85775871 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*309A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000371045] |
Chr2:85549625 [GRCh38]
Chr2:85776748 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*856T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000338315] |
Chr2:85549078 [GRCh38]
Chr2:85776201 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2060T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000353725] |
Chr2:85547874 [GRCh38]
Chr2:85774997 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3757T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000371519] |
Chr2:85546177 [GRCh38]
Chr2:85773300 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3630A>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000340369] |
Chr2:85546304 [GRCh38]
Chr2:85773427 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2560A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000288682] |
Chr2:85547374 [GRCh38]
Chr2:85774497 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*745_*749del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000341341] |
Chr2:85549185..85549189 [GRCh38]
Chr2:85776308..85776312 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4744C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000375682] |
Chr2:85545190 [GRCh38]
Chr2:85772313 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2133T>G (p.Pro711=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000377112]|not provided [RCV002519988] |
Chr2:85550078 [GRCh38]
Chr2:85777201 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.-53C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000300946] |
Chr2:85561481 [GRCh38]
Chr2:85788604 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.68A>G (p.Glu23Gly) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000396835] |
Chr2:85560961 [GRCh38]
Chr2:85788084 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*338T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139051] |
Chr2:85549596 [GRCh38]
Chr2:85776719 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4366C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138738] |
Chr2:85545568 [GRCh38]
Chr2:85772691 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3177T>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138851] |
Chr2:85546757 [GRCh38]
Chr2:85773880 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1355G>C (p.Ser452Thr) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139149]|not provided [RCV001856787] |
Chr2:85552500 [GRCh38]
Chr2:85779623 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1299G>C (p.Gln433His) |
single nucleotide variant |
Inborn genetic diseases [RCV003163304]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139150]|not provided [RCV001856788] |
Chr2:85552556 [GRCh38]
Chr2:85779679 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.91G>A (p.Asp31Asn) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139264]|not provided [RCV002070651] |
Chr2:85560938 [GRCh38]
Chr2:85788061 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*1727A>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138950] |
Chr2:85548207 [GRCh38]
Chr2:85775330 [GRCh37]
Chr2:2p11.2 |
benign |
| GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 |
copy number gain |
See cases [RCV000448688] |
Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2084+45G>C |
single nucleotide variant |
GGCX-related disorder [RCV003972560]|not provided [RCV001692094] |
Chr2:85550510 [GRCh38]
Chr2:85777633 [GRCh37]
Chr2:2p11.2 |
benign|likely benign|drug response |
| 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 |
| GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 |
copy number loss |
See cases [RCV000510763] |
Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1907C>G (p.Pro636Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003299179] |
Chr2:85550732 [GRCh38]
Chr2:85777855 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3 |
copy number gain |
not provided [RCV000682150] |
Chr2:82517612..86262705 [GRCh37]
Chr2:2p12-11.2 |
uncertain significance |
| GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 |
copy number loss |
not provided [RCV000682167] |
Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2 |
pathogenic |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| 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_000821.7(GGCX):c.43+33T>A |
single nucleotide variant |
not provided [RCV001582077] |
Chr2:85561353 [GRCh38]
Chr2:85788476 [GRCh37]
Chr2:2p11.2 |
likely benign |
| 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_000821.7(GGCX):c.1440-107TCT[2] |
microsatellite |
not provided [RCV001643358] |
Chr2:85552080..85552082 [GRCh38]
Chr2:85779203..85779205 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.618+154del |
deletion |
not provided [RCV001680467] |
Chr2:85556028 [GRCh38]
Chr2:85783151 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*107del |
deletion |
not provided [RCV001581231] |
Chr2:85549827 [GRCh38]
Chr2:85776950 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1155+50C>T |
single nucleotide variant |
not provided [RCV001647800] |
Chr2:85553182 [GRCh38]
Chr2:85780305 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.1580C>T (p.Thr527Ile) |
single nucleotide variant |
GGCX-related disorder [RCV003936144]|Inborn genetic diseases [RCV002548364]|not provided [RCV000972218] |
Chr2:85551841 [GRCh38]
Chr2:85778964 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.1140dup (p.His381fs) |
duplication |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000779339] |
Chr2:85553246..85553247 [GRCh38]
Chr2:85780369..85780370 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.837C>A (p.Gly279=) |
single nucleotide variant |
not provided [RCV000960231] |
Chr2:85554195 [GRCh38]
Chr2:85781318 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.30C>G (p.Thr10=) |
single nucleotide variant |
not provided [RCV000916075] |
Chr2:85561399 [GRCh38]
Chr2:85788522 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.269G>A (p.Arg90Gln) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001137014]|not provided [RCV002556910] |
Chr2:85559021 [GRCh38]
Chr2:85786144 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.540-8C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001137012]|not provided [RCV003546641] |
Chr2:85556268 [GRCh38]
Chr2:85783391 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*4681G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138317] |
Chr2:85545253 [GRCh38]
Chr2:85772376 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*703C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136808] |
Chr2:85549231 [GRCh38]
Chr2:85776354 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1743G>A (p.Leu581=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136908]|not provided [RCV002070597] |
Chr2:85551070 [GRCh38]
Chr2:85778193 [GRCh37]
Chr2:2p11.2 |
benign|uncertain significance |
| NM_000821.7(GGCX):c.1453C>T (p.Arg485Cys) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136911] |
Chr2:85551968 [GRCh38]
Chr2:85779091 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3393C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138848] |
Chr2:85546541 [GRCh38]
Chr2:85773664 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1727A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138951] |
Chr2:85548207 [GRCh38]
Chr2:85775330 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*285G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139052] |
Chr2:85549649 [GRCh38]
Chr2:85776772 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4413T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138736] |
Chr2:85545521 [GRCh38]
Chr2:85772644 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4242C>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138739] |
Chr2:85545692 [GRCh38]
Chr2:85772815 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1712A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138953] |
Chr2:85548222 [GRCh38]
Chr2:85775345 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1 |
copy number loss |
not provided [RCV000846587] |
Chr2:77907114..87330965 [GRCh37]
Chr2:2p12-11.2 |
pathogenic |
| NM_000821.7(GGCX):c.*4848C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143063] |
Chr2:85545086 [GRCh38]
Chr2:85772209 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3841T>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143173] |
Chr2:85546093 [GRCh38]
Chr2:85773216 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2490T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143283] |
Chr2:85547444 [GRCh38]
Chr2:85774567 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1145G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143382] |
Chr2:85548789 [GRCh38]
Chr2:85775912 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1037A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143383] |
Chr2:85548897 [GRCh38]
Chr2:85776020 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*973A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143384] |
Chr2:85548961 [GRCh38]
Chr2:85776084 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*962G>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143385] |
Chr2:85548972 [GRCh38]
Chr2:85776095 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1485C>T (p.Pro495=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136909] |
Chr2:85551936 [GRCh38]
Chr2:85779059 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1455T>C (p.Arg485=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136910] |
Chr2:85551966 [GRCh38]
Chr2:85779089 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1439+15C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136912]|not provided [RCV003769648] |
Chr2:85552401 [GRCh38]
Chr2:85779524 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.614G>A (p.Gly205Asp) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143586] |
Chr2:85556186 [GRCh38]
Chr2:85783309 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2892A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141437] |
Chr2:85547042 [GRCh38]
Chr2:85774165 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1277G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141553] |
Chr2:85548657 [GRCh38]
Chr2:85775780 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1046G>C (p.Arg349Pro) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141771] |
Chr2:85553341 [GRCh38]
Chr2:85780464 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.726-178CAA[12] |
microsatellite |
not provided [RCV001643738] |
Chr2:85554454..85554455 [GRCh38]
Chr2:85781577..85781578 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.468A>G (p.Ser156=) |
single nucleotide variant |
not provided [RCV003107113] |
Chr2:85558511 [GRCh38]
Chr2:85785634 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.44-32G>A |
single nucleotide variant |
not provided [RCV001693963] |
Chr2:85561017 [GRCh38]
Chr2:85788140 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.726-178CAA[11] |
microsatellite |
not provided [RCV001694045] |
Chr2:85554454..85554455 [GRCh38]
Chr2:85781577..85781578 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.2084+106T>G |
single nucleotide variant |
not provided [RCV001617339] |
Chr2:85550449 [GRCh38]
Chr2:85777572 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.890-212G>A |
single nucleotide variant |
not provided [RCV001694891] |
Chr2:85553709 [GRCh38]
Chr2:85780832 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.516A>G (p.Thr172=) |
single nucleotide variant |
not provided [RCV000970074] |
Chr2:85558463 [GRCh38]
Chr2:85785586 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.582C>T (p.His194=) |
single nucleotide variant |
GGCX-related disorder [RCV003970749]|Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143587]|not provided [RCV000953242] |
Chr2:85556218 [GRCh38]
Chr2:85783341 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*4720G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138316] |
Chr2:85545214 [GRCh38]
Chr2:85772337 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4195T>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138740] |
Chr2:85545739 [GRCh38]
Chr2:85772862 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3192C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138850] |
Chr2:85546742 [GRCh38]
Chr2:85773865 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.903C>T (p.Tyr301=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141775] |
Chr2:85553484 [GRCh38]
Chr2:85780607 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.15C>T (p.Ala5=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139267]|not provided [RCV002070652] |
Chr2:85561414 [GRCh38]
Chr2:85788537 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.*2716A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143282] |
Chr2:85547218 [GRCh38]
Chr2:85774341 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.618+89C>T |
single nucleotide variant |
not provided [RCV001551611] |
Chr2:85556093 [GRCh38]
Chr2:85783216 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.43+106del |
deletion |
not provided [RCV001540709] |
Chr2:85561280 [GRCh38]
Chr2:85788403 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.726-178CAA[13] |
microsatellite |
not provided [RCV001657484] |
Chr2:85554454..85554455 [GRCh38]
Chr2:85781577..85781578 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*107dup |
duplication |
not provided [RCV001592701] |
Chr2:85549826..85549827 [GRCh38]
Chr2:85776949..85776950 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.43+107del |
deletion |
not provided [RCV001637158] |
Chr2:85561279 [GRCh38]
Chr2:85788402 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.726-178CAA[15] |
microsatellite |
not provided [RCV001653350] |
Chr2:85554454..85554455 [GRCh38]
Chr2:85781577..85781578 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.214+197dup |
duplication |
not provided [RCV001617316] |
Chr2:85560606..85560607 [GRCh38]
Chr2:85787729..85787730 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.44-67A>T |
single nucleotide variant |
not provided [RCV001694711] |
Chr2:85561052 [GRCh38]
Chr2:85788175 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.618+177A>C |
single nucleotide variant |
not provided [RCV001598958] |
Chr2:85556005 [GRCh38]
Chr2:85783128 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*2965C>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141436] |
Chr2:85546969 [GRCh38]
Chr2:85774092 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1686C>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141549] |
Chr2:85548248 [GRCh38]
Chr2:85775371 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3770T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143174]|not provided [RCV003425950] |
Chr2:85546164 [GRCh38]
Chr2:85773287 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.994C>A (p.Pro332Thr) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141773] |
Chr2:85553393 [GRCh38]
Chr2:85780516 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2254G>C (p.Asp752His) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143486]|not provided [RCV001858940] |
Chr2:85549957 [GRCh38]
Chr2:85777080 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1994G>A (p.Arg665Lys) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143488] |
Chr2:85550645 [GRCh38]
Chr2:85777768 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4840T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143064] |
Chr2:85545094 [GRCh38]
Chr2:85772217 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*4798G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143065] |
Chr2:85545136 [GRCh38]
Chr2:85772259 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3703C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143176] |
Chr2:85546231 [GRCh38]
Chr2:85773354 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.654G>A (p.Lys218=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143585]|not provided [RCV003769687] |
Chr2:85555555 [GRCh38]
Chr2:85782678 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.1815C>G (p.Asn605Lys) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143489] |
Chr2:85550998 [GRCh38]
Chr2:85778121 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3581C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136608] |
Chr2:85546353 [GRCh38]
Chr2:85773476 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4475T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138318] |
Chr2:85545459 [GRCh38]
Chr2:85772582 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3756A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143175] |
Chr2:85546178 [GRCh38]
Chr2:85773301 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2811T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143279] |
Chr2:85547123 [GRCh38]
Chr2:85774246 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*2774A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143280] |
Chr2:85547160 [GRCh38]
Chr2:85774283 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3269A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138849] |
Chr2:85546665 [GRCh38]
Chr2:85773788 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1249G>A (p.Asp417Asn) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139151]|not provided [RCV002559342] |
Chr2:85552977 [GRCh38]
Chr2:85780100 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.57A>T (p.Lys19Asn) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139265] |
Chr2:85560972 [GRCh38]
Chr2:85788095 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.26G>A (p.Arg9Gln) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139266]|not provided [RCV002556968] |
Chr2:85561403 [GRCh38]
Chr2:85788526 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4078G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141321] |
Chr2:85545856 [GRCh38]
Chr2:85772979 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1324T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141552] |
Chr2:85548610 [GRCh38]
Chr2:85775733 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*199A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141667] |
Chr2:85549735 [GRCh38]
Chr2:85776858 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.990G>C (p.Leu330=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141774]|not provided [RCV002557012] |
Chr2:85553397 [GRCh38]
Chr2:85780520 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*1604G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141550]|not provided [RCV004694876] |
Chr2:85548330 [GRCh38]
Chr2:85775453 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1367C>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141551] |
Chr2:85548567 [GRCh38]
Chr2:85775690 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.44-162G>T |
single nucleotide variant |
not provided [RCV001541138] |
Chr2:85561147 [GRCh38]
Chr2:85788270 [GRCh37]
Chr2:2p11.2 |
benign |
| NC_000002.12:g.85561615C>A |
single nucleotide variant |
not provided [RCV001713732] |
Chr2:85561615 [GRCh38]
Chr2:85788738 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*4397G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138737] |
Chr2:85545537 [GRCh38]
Chr2:85772660 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1 |
copy number loss |
not provided [RCV001537915] |
Chr2:81209244..86688030 [GRCh37]
Chr2:2p12-11.2 |
pathogenic |
| NM_000821.7(GGCX):c.*3067T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138852] |
Chr2:85546867 [GRCh38]
Chr2:85773990 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*3584C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136607] |
Chr2:85546350 [GRCh38]
Chr2:85773473 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*1725C>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138952] |
Chr2:85548209 [GRCh38]
Chr2:85775332 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*454C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139049] |
Chr2:85549480 [GRCh38]
Chr2:85776603 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*417G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139050] |
Chr2:85549517 [GRCh38]
Chr2:85776640 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1378G>A (p.Val460Ile) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139148]|not provided [RCV002556966] |
Chr2:85552477 [GRCh38]
Chr2:85779600 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1224C>A (p.His408Gln) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139152]|not provided [RCV002556967] |
Chr2:85553002 [GRCh38]
Chr2:85780125 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1155+12C>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001139153]|not provided [RCV002070643] |
Chr2:85553220 [GRCh38]
Chr2:85780343 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.271A>C (p.Lys91Gln) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001137013] |
Chr2:85559019 [GRCh38]
Chr2:85786142 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1008C>T (p.Ala336=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141772] |
Chr2:85553379 [GRCh38]
Chr2:85780502 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.-46C>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141886] |
Chr2:85561474 [GRCh38]
Chr2:85788597 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2740A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143281] |
Chr2:85547194 [GRCh38]
Chr2:85774317 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2119A>C (p.Ile707Leu) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143487] |
Chr2:85550092 [GRCh38]
Chr2:85777215 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*91G>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141668] |
Chr2:85549843 [GRCh38]
Chr2:85776966 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*2226C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136707] |
Chr2:85547708 [GRCh38]
Chr2:85774831 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*680G>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001136809] |
Chr2:85549254 [GRCh38]
Chr2:85776377 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*3930T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141322] |
Chr2:85546004 [GRCh38]
Chr2:85773127 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*3000A>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141435] |
Chr2:85546934 [GRCh38]
Chr2:85774057 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.745C>T (p.Leu249=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143584]|not provided [RCV003708577] |
Chr2:85554287 [GRCh38]
Chr2:85781410 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3 |
copy number gain |
not provided [RCV001259609] |
Chr2:85786006..86559358 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2084+5G>A |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV001333566]|not provided [RCV001859312] |
Chr2:85550550 [GRCh38]
Chr2:85777673 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV001290234] |
Chr2:85551812 [GRCh38]
Chr2:85778935 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001280812] |
Chr2:85554259 [GRCh38]
Chr2:85781382 [GRCh37]
Chr2:2p11.2 |
likely pathogenic |
| NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001280813]|not provided [RCV003698858] |
Chr2:85550652 [GRCh38]
Chr2:85777775 [GRCh37]
Chr2:2p11.2 |
pathogenic|likely pathogenic |
| NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV001290232] |
Chr2:85551883 [GRCh38]
Chr2:85779006 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1217G>A (p.Arg406His) |
single nucleotide variant |
Abnormal bleeding [RCV001270601]|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV002486021]|not provided [RCV001880207] |
Chr2:85553009 [GRCh38]
Chr2:85780132 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000821.7(GGCX):c.726-178CAA[14] |
microsatellite |
not provided [RCV001643563] |
Chr2:85554454..85554455 [GRCh38]
Chr2:85781577..85781578 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.2085-21C>T |
single nucleotide variant |
not provided [RCV001688285] |
Chr2:85550147 [GRCh38]
Chr2:85777270 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.44-118_44-105dup |
duplication |
not provided [RCV001592518] |
Chr2:85561089..85561090 [GRCh38]
Chr2:85788212..85788213 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.214+116A>G |
single nucleotide variant |
not provided [RCV001585603] |
Chr2:85560699 [GRCh38]
Chr2:85787822 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.950G>A (p.Arg317Gln) |
single nucleotide variant |
not provided [RCV001944973] |
Chr2:85553437 [GRCh38]
Chr2:85780560 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.973_974delinsGA (p.Arg325Glu) |
indel |
not provided [RCV001874328] |
Chr2:85553413..85553414 [GRCh38]
Chr2:85780536..85780537 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1076G>A (p.Arg359His) |
single nucleotide variant |
not provided [RCV001871387] |
Chr2:85553311 [GRCh38]
Chr2:85780434 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.904G>A (p.Val302Ile) |
single nucleotide variant |
not provided [RCV002025099] |
Chr2:85553483 [GRCh38]
Chr2:85780606 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:82486900-87322042) |
copy number loss |
not specified [RCV002053172] |
Chr2:82486900..87322042 [GRCh37]
Chr2:2p12-11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2192T>C (p.Val731Ala) |
single nucleotide variant |
not provided [RCV002022901] |
Chr2:85550019 [GRCh38]
Chr2:85777142 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1948C>A (p.Pro650Thr) |
single nucleotide variant |
not provided [RCV001891537] |
Chr2:85550691 [GRCh38]
Chr2:85777814 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1498T>G (p.Ser500Ala) |
single nucleotide variant |
not provided [RCV001945486] |
Chr2:85551923 [GRCh38]
Chr2:85779046 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1304G>A (p.Arg435Gln) |
single nucleotide variant |
not provided [RCV001964533] |
Chr2:85552551 [GRCh38]
Chr2:85779674 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.832A>G (p.Ile278Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004043071]|not provided [RCV001965303] |
Chr2:85554200 [GRCh38]
Chr2:85781323 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1075C>T (p.Arg359Cys) |
single nucleotide variant |
not provided [RCV001927753] |
Chr2:85553312 [GRCh38]
Chr2:85780435 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2110C>T (p.Arg704Ter) |
single nucleotide variant |
not provided [RCV002004810] |
Chr2:85550101 [GRCh38]
Chr2:85777224 [GRCh37]
Chr2:2p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000821.7(GGCX):c.1046G>A (p.Arg349Gln) |
single nucleotide variant |
not provided [RCV001926517] |
Chr2:85553341 [GRCh38]
Chr2:85780464 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2257C>G (p.Pro753Ala) |
single nucleotide variant |
not provided [RCV001911227] |
Chr2:85549954 [GRCh38]
Chr2:85777077 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1090G>A (p.Ala364Thr) |
single nucleotide variant |
not provided [RCV001891458] |
Chr2:85553297 [GRCh38]
Chr2:85780420 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.126G>A (p.Trp42Ter) |
single nucleotide variant |
not provided [RCV001962595] |
Chr2:85560903 [GRCh38]
Chr2:85788026 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.75C>G (p.Ile25Met) |
single nucleotide variant |
not provided [RCV002030999] |
Chr2:85560954 [GRCh38]
Chr2:85788077 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.469T>C (p.Trp157Arg) |
single nucleotide variant |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [RCV004763278]|not provided [RCV001973152] |
Chr2:85558510 [GRCh38]
Chr2:85785633 [GRCh37]
Chr2:2p11.2 |
pathogenic|likely pathogenic |
| NM_000821.7(GGCX):c.1901T>C (p.Leu634Pro) |
single nucleotide variant |
not provided [RCV001958441] |
Chr2:85550738 [GRCh38]
Chr2:85777861 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2014C>T (p.Arg672Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002545813]|not provided [RCV001866799] |
Chr2:85550625 [GRCh38]
Chr2:85777748 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.248G>A (p.Arg83Gln) |
single nucleotide variant |
not provided [RCV001989383] |
Chr2:85559042 [GRCh38]
Chr2:85786165 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1972A>G (p.Thr658Ala) |
single nucleotide variant |
not provided [RCV001996033] |
Chr2:85550667 [GRCh38]
Chr2:85777790 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2256T>G (p.Asp752Glu) |
single nucleotide variant |
not provided [RCV001932239] |
Chr2:85549955 [GRCh38]
Chr2:85777078 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.268C>T (p.Arg90Trp) |
single nucleotide variant |
not provided [RCV001997547] |
Chr2:85559022 [GRCh38]
Chr2:85786145 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.407G>A (p.Arg136Gln) |
single nucleotide variant |
not provided [RCV001899093] |
Chr2:85558572 [GRCh38]
Chr2:85785695 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2110C>G (p.Arg704Gly) |
single nucleotide variant |
not provided [RCV001996474] |
Chr2:85550101 [GRCh38]
Chr2:85777224 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1247G>A (p.Arg416His) |
single nucleotide variant |
not provided [RCV001934486] |
Chr2:85552979 [GRCh38]
Chr2:85780102 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2018G>A (p.Arg673Gln) |
single nucleotide variant |
not provided [RCV001997198] |
Chr2:85550621 [GRCh38]
Chr2:85777744 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter) |
single nucleotide variant |
GGCX-related disorder [RCV003407855]|not provided [RCV001907378] |
Chr2:85552549 [GRCh38]
Chr2:85779672 [GRCh37]
Chr2:2p11.2 |
pathogenic|likely pathogenic |
| NM_000821.7(GGCX):c.1682C>A (p.Thr561Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004042596]|not provided [RCV001901369] |
Chr2:85551538 [GRCh38]
Chr2:85778661 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1889-15_1889-14del |
deletion |
not provided [RCV002107123] |
Chr2:85550764..85550765 [GRCh38]
Chr2:85777887..85777888 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.24G>C (p.Ala8=) |
single nucleotide variant |
GGCX-related disorder [RCV003951142]|not provided [RCV002147432] |
Chr2:85561405 [GRCh38]
Chr2:85788528 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.363C>T (p.Ile121=) |
single nucleotide variant |
not provided [RCV002207685] |
Chr2:85558927 [GRCh38]
Chr2:85786050 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1017C>T (p.Pro339=) |
single nucleotide variant |
not provided [RCV002090360] |
Chr2:85553370 [GRCh38]
Chr2:85780493 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.78A>C (p.Ser26=) |
single nucleotide variant |
not provided [RCV002089531] |
Chr2:85560951 [GRCh38]
Chr2:85788074 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.618+5A>G |
single nucleotide variant |
GGCX-related disorder [RCV003970917]|not provided [RCV002129777] |
Chr2:85556177 [GRCh38]
Chr2:85783300 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.43+14C>G |
single nucleotide variant |
not provided [RCV002185570] |
Chr2:85561372 [GRCh38]
Chr2:85788495 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.837= (p.Gly279=) |
variation |
not provided [RCV002193927] |
Chr2:85554195 [GRCh38]
Chr2:85781318 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.539+10_539+11del |
deletion |
not provided [RCV002128798] |
Chr2:85558429..85558430 [GRCh38]
Chr2:85785552..85785553 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1353G>C (p.Leu451=) |
single nucleotide variant |
not provided [RCV002093553] |
Chr2:85552502 [GRCh38]
Chr2:85779625 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1351C>T (p.Leu451=) |
single nucleotide variant |
not provided [RCV002113463] |
Chr2:85552504 [GRCh38]
Chr2:85779627 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2070T>C (p.Tyr690=) |
single nucleotide variant |
not provided [RCV002096623] |
Chr2:85550569 [GRCh38]
Chr2:85777692 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.730C>T (p.Leu244=) |
single nucleotide variant |
not provided [RCV002085631] |
Chr2:85554302 [GRCh38]
Chr2:85781425 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.43+19C>T |
single nucleotide variant |
not provided [RCV002127996] |
Chr2:85561367 [GRCh38]
Chr2:85788490 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.214+14A>G |
single nucleotide variant |
not provided [RCV002151279] |
Chr2:85560801 [GRCh38]
Chr2:85787924 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.198C>G (p.Val66=) |
single nucleotide variant |
not provided [RCV002196998] |
Chr2:85560831 [GRCh38]
Chr2:85787954 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.38G>T (p.Ser13Ile) |
single nucleotide variant |
not provided [RCV002103755] |
Chr2:85561391 [GRCh38]
Chr2:85788514 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.549C>T (p.Asp183=) |
single nucleotide variant |
not provided [RCV002135772] |
Chr2:85556251 [GRCh38]
Chr2:85783374 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.1104G>A (p.Leu368=) |
single nucleotide variant |
not provided [RCV002177944] |
Chr2:85553283 [GRCh38]
Chr2:85780406 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2025T>C (p.Thr675=) |
single nucleotide variant |
not provided [RCV002219843] |
Chr2:85550614 [GRCh38]
Chr2:85777737 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.540-4G>A |
single nucleotide variant |
not provided [RCV002122710] |
Chr2:85556264 [GRCh38]
Chr2:85783387 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.1888+10T>C |
single nucleotide variant |
not provided [RCV002100310] |
Chr2:85550915 [GRCh38]
Chr2:85778038 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.725+9C>T |
single nucleotide variant |
not provided [RCV002123595] |
Chr2:85555475 [GRCh38]
Chr2:85782598 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.406C>T (p.Arg136Trp) |
single nucleotide variant |
not provided [RCV003115914] |
Chr2:85558573 [GRCh38]
Chr2:85785696 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1540G>A (p.Ala514Thr) |
single nucleotide variant |
not provided [RCV003112552] |
Chr2:85551881 [GRCh38]
Chr2:85779004 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.772G>A (p.Gly258Ser) |
single nucleotide variant |
not provided [RCV003114937] |
Chr2:85554260 [GRCh38]
Chr2:85781383 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NC_000002.11:g.(?_85766411)_(86564633_?)del |
deletion |
Hereditary spastic paraplegia 31 [RCV003111516] |
Chr2:85766411..86564633 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.619-7T>C |
single nucleotide variant |
not provided [RCV003120039] |
Chr2:85555597 [GRCh38]
Chr2:85782720 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV004689392] |
Chr2:85552429 [GRCh38]
Chr2:85779552 [GRCh37]
Chr2:2p11.2 |
likely pathogenic |
| NM_000821.7(GGCX):c.973dup (p.Arg325fs) |
duplication |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV002227680] |
Chr2:85553413..85553414 [GRCh38]
Chr2:85780536..85780537 [GRCh37]
Chr2:2p11.2 |
likely pathogenic |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_000821.7(GGCX):c.76T>C (p.Ser26Pro) |
single nucleotide variant |
not provided [RCV002995164] |
Chr2:85560953 [GRCh38]
Chr2:85788076 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.74T>C (p.Ile25Thr) |
single nucleotide variant |
not provided [RCV003014467] |
Chr2:85560955 [GRCh38]
Chr2:85788078 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.994C>G (p.Pro332Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003367880]|not provided [RCV002776125] |
Chr2:85553393 [GRCh38]
Chr2:85780516 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.215-13A>T |
single nucleotide variant |
not provided [RCV002819336] |
Chr2:85559088 [GRCh38]
Chr2:85786211 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.830C>G (p.Ser277Cys) |
single nucleotide variant |
not provided [RCV002948189] |
Chr2:85554202 [GRCh38]
Chr2:85781325 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1435C>A (p.Gln479Lys) |
single nucleotide variant |
not provided [RCV002820121] |
Chr2:85552420 [GRCh38]
Chr2:85779543 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1216C>T (p.Arg406Cys) |
single nucleotide variant |
not provided [RCV002618794] |
Chr2:85553010 [GRCh38]
Chr2:85780133 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2015G>A (p.Arg672Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002967788]|not provided [RCV002967787] |
Chr2:85550624 [GRCh38]
Chr2:85777747 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1214C>T (p.Ser405Phe) |
single nucleotide variant |
not provided [RCV002613775] |
Chr2:85553012 [GRCh38]
Chr2:85780135 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1363C>T (p.Leu455Phe) |
single nucleotide variant |
not provided [RCV002971006] |
Chr2:85552492 [GRCh38]
Chr2:85779615 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.890-14C>T |
single nucleotide variant |
not provided [RCV003014548] |
Chr2:85553511 [GRCh38]
Chr2:85780634 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.599A>T (p.Tyr200Phe) |
single nucleotide variant |
not provided [RCV002686273] |
Chr2:85556201 [GRCh38]
Chr2:85783324 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1627T>C (p.Phe543Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002907315] |
Chr2:85551593 [GRCh38]
Chr2:85778716 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.843C>T (p.Phe281=) |
single nucleotide variant |
not provided [RCV002730929] |
Chr2:85554189 [GRCh38]
Chr2:85781312 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1156-1G>A |
single nucleotide variant |
not provided [RCV002839431] |
Chr2:85553071 [GRCh38]
Chr2:85780194 [GRCh37]
Chr2:2p11.2 |
likely pathogenic |
| NM_000821.7(GGCX):c.1984C>T (p.Arg662Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002734004] |
Chr2:85550655 [GRCh38]
Chr2:85777778 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3 |
copy number gain |
not provided [RCV002475677] |
Chr2:85786007..86559358 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1299G>A (p.Gln433=) |
single nucleotide variant |
not provided [RCV002974872] |
Chr2:85552556 [GRCh38]
Chr2:85779679 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1267C>A (p.Leu423Met) |
single nucleotide variant |
not provided [RCV003076116] |
Chr2:85552959 [GRCh38]
Chr2:85780082 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1903C>G (p.Pro635Ala) |
single nucleotide variant |
not provided [RCV002461798] |
Chr2:85550736 [GRCh38]
Chr2:85777859 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1013A>G (p.Gln338Arg) |
single nucleotide variant |
not provided [RCV003002464] |
Chr2:85553374 [GRCh38]
Chr2:85780497 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1724A>G (p.Glu575Gly) |
single nucleotide variant |
not provided [RCV002825220] |
Chr2:85551496 [GRCh38]
Chr2:85778619 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1440-16G>A |
single nucleotide variant |
not provided [RCV003055431] |
Chr2:85551997 [GRCh38]
Chr2:85779120 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1875G>A (p.Val625=) |
single nucleotide variant |
not provided [RCV002593068] |
Chr2:85550938 [GRCh38]
Chr2:85778061 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1610-10G>T |
single nucleotide variant |
not provided [RCV002591164] |
Chr2:85551620 [GRCh38]
Chr2:85778743 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1525C>T (p.Leu509=) |
single nucleotide variant |
not provided [RCV002658834] |
Chr2:85551896 [GRCh38]
Chr2:85779019 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2084+13_2084+15del |
microsatellite |
not provided [RCV003035454] |
Chr2:85550540..85550542 [GRCh38]
Chr2:85777663..85777665 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1374T>C (p.Tyr458=) |
single nucleotide variant |
not provided [RCV002592366] |
Chr2:85552481 [GRCh38]
Chr2:85779604 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.816dup (p.Asp273Ter) |
duplication |
not provided [RCV002867910] |
Chr2:85554215..85554216 [GRCh38]
Chr2:85781338..85781339 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2104T>G (p.Ser702Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002924854] |
Chr2:85550107 [GRCh38]
Chr2:85777230 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.319C>G (p.Leu107Val) |
single nucleotide variant |
not provided [RCV002736611] |
Chr2:85558971 [GRCh38]
Chr2:85786094 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1204_1209del (p.Met402_Val403del) |
deletion |
not provided [RCV003036600] |
Chr2:85553017..85553022 [GRCh38]
Chr2:85780140..85780145 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1231G>A (p.Val411Met) |
single nucleotide variant |
not provided [RCV002590845] |
Chr2:85552995 [GRCh38]
Chr2:85780118 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.374-5C>T |
single nucleotide variant |
not provided [RCV002933434] |
Chr2:85558610 [GRCh38]
Chr2:85785733 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.826A>T (p.Arg276Ter) |
single nucleotide variant |
not provided [RCV002711694] |
Chr2:85554206 [GRCh38]
Chr2:85781329 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1804G>A (p.Val602Ile) |
single nucleotide variant |
not provided [RCV002593525] |
Chr2:85551009 [GRCh38]
Chr2:85778132 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.137C>G (p.Ser46Cys) |
single nucleotide variant |
not provided [RCV002574424] |
Chr2:85560892 [GRCh38]
Chr2:85788015 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1287+9T>A |
single nucleotide variant |
not provided [RCV002958151] |
Chr2:85552930 [GRCh38]
Chr2:85780053 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1053A>G (p.Lys351=) |
single nucleotide variant |
not provided [RCV002745537] |
Chr2:85553334 [GRCh38]
Chr2:85780457 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.384C>T (p.Gly128=) |
single nucleotide variant |
not provided [RCV002876781] |
Chr2:85558595 [GRCh38]
Chr2:85785718 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1439+6C>T |
single nucleotide variant |
not provided [RCV003008128] |
Chr2:85552410 [GRCh38]
Chr2:85779533 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.60C>T (p.Asp20=) |
single nucleotide variant |
not provided [RCV002872707] |
Chr2:85560969 [GRCh38]
Chr2:85788092 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.517T>C (p.Phe173Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002955343] |
Chr2:85558462 [GRCh38]
Chr2:85785585 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1320T>C (p.His440=) |
single nucleotide variant |
not provided [RCV002710253] |
Chr2:85552535 [GRCh38]
Chr2:85779658 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.967T>C (p.Cys323Arg) |
single nucleotide variant |
not provided [RCV002576090] |
Chr2:85553420 [GRCh38]
Chr2:85780543 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1085T>C (p.Leu362Pro) |
single nucleotide variant |
not provided [RCV002741879] |
Chr2:85553302 [GRCh38]
Chr2:85780425 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.488T>C (p.Leu163Pro) |
single nucleotide variant |
not provided [RCV003007509] |
Chr2:85558491 [GRCh38]
Chr2:85785614 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.619-10T>C |
single nucleotide variant |
not provided [RCV003007579] |
Chr2:85555600 [GRCh38]
Chr2:85782723 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1480T>G (p.Ser494Ala) |
single nucleotide variant |
not provided [RCV002594418] |
Chr2:85551941 [GRCh38]
Chr2:85779064 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2216C>T (p.Thr739Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002789147] |
Chr2:85549995 [GRCh38]
Chr2:85777118 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1287G>A (p.Gly429=) |
single nucleotide variant |
not provided [RCV003022214] |
Chr2:85552939 [GRCh38]
Chr2:85780062 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.892_895del (p.Met298fs) |
deletion |
not provided [RCV002852143] |
Chr2:85553492..85553495 [GRCh38]
Chr2:85780615..85780618 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2080C>A (p.Arg694Ser) |
single nucleotide variant |
not provided [RCV003055812] |
Chr2:85550559 [GRCh38]
Chr2:85777682 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1493G>T (p.Arg498Leu) |
single nucleotide variant |
not provided [RCV002582111] |
Chr2:85551928 [GRCh38]
Chr2:85779051 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2034T>C (p.His678=) |
single nucleotide variant |
not provided [RCV003048474] |
Chr2:85550605 [GRCh38]
Chr2:85777728 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.141T>C (p.Ser47=) |
single nucleotide variant |
not provided [RCV002646268] |
Chr2:85560888 [GRCh38]
Chr2:85788011 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.477C>T (p.Asn159=) |
single nucleotide variant |
not provided [RCV002716386] |
Chr2:85558502 [GRCh38]
Chr2:85785625 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.761T>C (p.Val254Ala) |
single nucleotide variant |
not provided [RCV003047564] |
Chr2:85554271 [GRCh38]
Chr2:85781394 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1303C>T (p.Arg435Trp) |
single nucleotide variant |
not provided [RCV002646300] |
Chr2:85552552 [GRCh38]
Chr2:85779675 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1995G>T (p.Arg665Ser) |
single nucleotide variant |
not provided [RCV003011141] |
Chr2:85550644 [GRCh38]
Chr2:85777767 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1344C>T (p.Ala448=) |
single nucleotide variant |
not provided [RCV002646405] |
Chr2:85552511 [GRCh38]
Chr2:85779634 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.26G>T (p.Arg9Leu) |
single nucleotide variant |
not provided [RCV003046152] |
Chr2:85561403 [GRCh38]
Chr2:85788526 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.322C>T (p.Arg108Cys) |
single nucleotide variant |
not provided [RCV002600079] |
Chr2:85558968 [GRCh38]
Chr2:85786091 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.932G>C (p.Cys311Ser) |
single nucleotide variant |
not provided [RCV002599531] |
Chr2:85553455 [GRCh38]
Chr2:85780578 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1878_1879dup (p.Asn627fs) |
microsatellite |
not provided [RCV002937380] |
Chr2:85550933..85550934 [GRCh38]
Chr2:85778056..85778057 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1256G>A (p.Arg419His) |
single nucleotide variant |
not provided [RCV002579737] |
Chr2:85552970 [GRCh38]
Chr2:85780093 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.885C>G (p.Ser295Arg) |
single nucleotide variant |
GGCX-related disorder [RCV003396867]|Inborn genetic diseases [RCV003010701] |
Chr2:85554147 [GRCh38]
Chr2:85781270 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2208C>T (p.Pro736=) |
single nucleotide variant |
not provided [RCV002962899] |
Chr2:85550003 [GRCh38]
Chr2:85777126 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.1772C>T (p.Thr591Met) |
single nucleotide variant |
not provided [RCV003087492] |
Chr2:85551041 [GRCh38]
Chr2:85778164 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2268dup (p.Glu757fs) |
duplication |
not provided [RCV002598831] |
Chr2:85549942..85549943 [GRCh38]
Chr2:85777065..85777066 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2174T>G (p.Leu725Trp) |
single nucleotide variant |
not provided [RCV002650511] |
Chr2:85550037 [GRCh38]
Chr2:85777160 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.387_388insTGGGC (p.Met130fs) |
insertion |
not provided [RCV003028419] |
Chr2:85558591..85558592 [GRCh38]
Chr2:85785714..85785715 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1465G>A (p.Val489Met) |
single nucleotide variant |
not provided [RCV002600781] |
Chr2:85551956 [GRCh38]
Chr2:85779079 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.140G>T (p.Ser47Ile) |
single nucleotide variant |
not provided [RCV002598735] |
Chr2:85560889 [GRCh38]
Chr2:85788012 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.726A>G (p.Lys242=) |
single nucleotide variant |
not provided [RCV002600218] |
Chr2:85554306 [GRCh38]
Chr2:85781429 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.388A>G (p.Met130Val) |
single nucleotide variant |
not provided [RCV003044096] |
Chr2:85558591 [GRCh38]
Chr2:85785714 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.840G>A (p.Leu280=) |
single nucleotide variant |
not provided [RCV002672223] |
Chr2:85554192 [GRCh38]
Chr2:85781315 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.618+4C>T |
single nucleotide variant |
not provided [RCV002746428] |
Chr2:85556178 [GRCh38]
Chr2:85783301 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.833T>C (p.Ile278Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002648722] |
Chr2:85554199 [GRCh38]
Chr2:85781322 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.265G>T (p.Asp89Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002747012] |
Chr2:85559025 [GRCh38]
Chr2:85786148 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2191G>T (p.Val731Phe) |
single nucleotide variant |
not provided [RCV003068468] |
Chr2:85550020 [GRCh38]
Chr2:85777143 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.247C>T (p.Arg83Trp) |
single nucleotide variant |
not provided [RCV002634383] |
Chr2:85559043 [GRCh38]
Chr2:85786166 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.435A>G (p.Pro145=) |
single nucleotide variant |
GGCX-related disorder [RCV003898548]|not provided [RCV002814252] |
Chr2:85558544 [GRCh38]
Chr2:85785667 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1889-7del |
deletion |
not provided [RCV003067355] |
Chr2:85550757 [GRCh38]
Chr2:85777880 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1464C>T (p.Ile488=) |
single nucleotide variant |
not provided [RCV002658444] |
Chr2:85551957 [GRCh38]
Chr2:85779080 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1942G>C (p.Gly648Arg) |
single nucleotide variant |
not provided [RCV002605100] |
Chr2:85550697 [GRCh38]
Chr2:85777820 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1156-12C>T |
single nucleotide variant |
not provided [RCV002586850] |
Chr2:85553082 [GRCh38]
Chr2:85780205 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2078G>A (p.Arg693His) |
single nucleotide variant |
not provided [RCV002654221] |
Chr2:85550561 [GRCh38]
Chr2:85777684 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.539+12G>A |
single nucleotide variant |
not provided [RCV002608763] |
Chr2:85558428 [GRCh38]
Chr2:85785551 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1413C>T (p.Val471=) |
single nucleotide variant |
not provided [RCV002613067] |
Chr2:85552442 [GRCh38]
Chr2:85779565 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.55A>C (p.Lys19Gln) |
single nucleotide variant |
not provided [RCV002582606] |
Chr2:85560974 [GRCh38]
Chr2:85788097 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2069_2070del (p.Tyr690fs) |
deletion |
not provided [RCV002611520] |
Chr2:85550569..85550570 [GRCh38]
Chr2:85777692..85777693 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1889-9del |
deletion |
not provided [RCV002587536] |
Chr2:85550759 [GRCh38]
Chr2:85777882 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1595T>C (p.Ile532Thr) |
single nucleotide variant |
not provided [RCV002634381] |
Chr2:85551826 [GRCh38]
Chr2:85778949 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.944G>A (p.Trp315Ter) |
single nucleotide variant |
GGCX-related disorder [RCV003404132]|not provided [RCV002634382] |
Chr2:85553443 [GRCh38]
Chr2:85780566 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1984C>G (p.Arg662Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003195960] |
Chr2:85550655 [GRCh38]
Chr2:85777778 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1854G>C (p.Leu618=) |
single nucleotide variant |
not provided [RCV003543840] |
Chr2:85550959 [GRCh38]
Chr2:85778082 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1263C>T (p.Gly421=) |
single nucleotide variant |
not provided [RCV003875228] |
Chr2:85552963 [GRCh38]
Chr2:85780086 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.214+12_214+13del |
deletion |
not provided [RCV003569166] |
Chr2:85560802..85560803 [GRCh38]
Chr2:85787925..85787926 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1720C>T (p.Arg574Ter) |
single nucleotide variant |
not provided [RCV003872923] |
Chr2:85551500 [GRCh38]
Chr2:85778623 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.215-14T>C |
single nucleotide variant |
not provided [RCV003666168] |
Chr2:85559089 [GRCh38]
Chr2:85786212 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.214+8C>T |
single nucleotide variant |
not provided [RCV003690796] |
Chr2:85560807 [GRCh38]
Chr2:85787930 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs) |
microsatellite |
GGCX-related disorder [RCV003404500]|not provided [RCV003778231] |
Chr2:85552557..85552558 [GRCh38]
Chr2:85779680..85779681 [GRCh37]
Chr2:2p11.2 |
pathogenic|likely pathogenic |
| NM_000821.7(GGCX):c.2036A>T (p.Glu679Val) |
single nucleotide variant |
not provided [RCV003427086] |
Chr2:85550603 [GRCh38]
Chr2:85777726 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1911G>A (p.Glu637=) |
single nucleotide variant |
not provided [RCV003696371] |
Chr2:85550728 [GRCh38]
Chr2:85777851 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.43+20C>T |
single nucleotide variant |
not provided [RCV003828730] |
Chr2:85561366 [GRCh38]
Chr2:85788489 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.939T>G (p.Pro313=) |
single nucleotide variant |
not provided [RCV003575652] |
Chr2:85553448 [GRCh38]
Chr2:85780571 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.938_939del (p.Pro313fs) |
deletion |
not provided [RCV003881040] |
Chr2:85553448..85553449 [GRCh38]
Chr2:85780571..85780572 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2049C>T (p.Arg683=) |
single nucleotide variant |
GGCX-related disorder [RCV003929273]|not provided [RCV003662509] |
Chr2:85550590 [GRCh38]
Chr2:85777713 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1680G>A (p.Val560=) |
single nucleotide variant |
not provided [RCV003578965] |
Chr2:85551540 [GRCh38]
Chr2:85778663 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.66T>C (p.Ala22=) |
single nucleotide variant |
not provided [RCV003693852] |
Chr2:85560963 [GRCh38]
Chr2:85788086 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1610-6T>C |
single nucleotide variant |
not provided [RCV003714769] |
Chr2:85551616 [GRCh38]
Chr2:85778739 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.889+20G>T |
single nucleotide variant |
not provided [RCV003572740] |
Chr2:85554123 [GRCh38]
Chr2:85781246 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1045C>T (p.Arg349Trp) |
single nucleotide variant |
not provided [RCV003877266] |
Chr2:85553342 [GRCh38]
Chr2:85780465 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1287+19A>T |
single nucleotide variant |
not provided [RCV003690196] |
Chr2:85552920 [GRCh38]
Chr2:85780043 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1439+2T>C |
single nucleotide variant |
not provided [RCV003834763] |
Chr2:85552414 [GRCh38]
Chr2:85779537 [GRCh37]
Chr2:2p11.2 |
likely pathogenic |
| NM_000821.7(GGCX):c.618+13A>G |
single nucleotide variant |
not provided [RCV003851383] |
Chr2:85556169 [GRCh38]
Chr2:85783292 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.214+10G>C |
single nucleotide variant |
not provided [RCV003834203] |
Chr2:85560805 [GRCh38]
Chr2:85787928 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1610-8T>C |
single nucleotide variant |
not provided [RCV003817387] |
Chr2:85551618 [GRCh38]
Chr2:85778741 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1417A>G (p.Ile473Val) |
single nucleotide variant |
not provided [RCV003579669] |
Chr2:85552438 [GRCh38]
Chr2:85779561 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2017C>T (p.Arg673Ter) |
single nucleotide variant |
not provided [RCV003814156] |
Chr2:85550622 [GRCh38]
Chr2:85777745 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2217G>A (p.Thr739=) |
single nucleotide variant |
not provided [RCV003836011] |
Chr2:85549994 [GRCh38]
Chr2:85777117 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1659C>A (p.Ile553=) |
single nucleotide variant |
not provided [RCV003837424] |
Chr2:85551561 [GRCh38]
Chr2:85778684 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.78A>G (p.Ser26=) |
single nucleotide variant |
not provided [RCV003856539] |
Chr2:85560951 [GRCh38]
Chr2:85788074 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1741-20C>T |
single nucleotide variant |
not provided [RCV003855365] |
Chr2:85551092 [GRCh38]
Chr2:85778215 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1473C>T (p.Ala491=) |
single nucleotide variant |
not provided [RCV003548701] |
Chr2:85551948 [GRCh38]
Chr2:85779071 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1666C>T (p.Leu556=) |
single nucleotide variant |
not provided [RCV003697619] |
Chr2:85551554 [GRCh38]
Chr2:85778677 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.373+20A>G |
single nucleotide variant |
not provided [RCV003550704] |
Chr2:85558897 [GRCh38]
Chr2:85786020 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2084+15_2084+17del |
deletion |
not provided [RCV003819439] |
Chr2:85550538..85550540 [GRCh38]
Chr2:85777661..85777663 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.619-13A>G |
single nucleotide variant |
not provided [RCV003678891] |
Chr2:85555603 [GRCh38]
Chr2:85782726 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1062G>A (p.Gln354=) |
single nucleotide variant |
not provided [RCV003824074] |
Chr2:85553325 [GRCh38]
Chr2:85780448 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2136C>G (p.Ser712=) |
single nucleotide variant |
GGCX-related disorder [RCV003893343]|not provided [RCV003734739] |
Chr2:85550075 [GRCh38]
Chr2:85777198 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1260T>C (p.Thr420=) |
single nucleotide variant |
not provided [RCV003685538] |
Chr2:85552966 [GRCh38]
Chr2:85780089 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1086G>A (p.Leu362=) |
single nucleotide variant |
not provided [RCV003857500] |
Chr2:85553301 [GRCh38]
Chr2:85780424 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1848A>G (p.Ala616=) |
single nucleotide variant |
not provided [RCV003734159] |
Chr2:85550965 [GRCh38]
Chr2:85778088 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1440-15G>T |
single nucleotide variant |
not provided [RCV003858946] |
Chr2:85551996 [GRCh38]
Chr2:85779119 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2166T>C (p.Tyr722=) |
single nucleotide variant |
not provided [RCV003870145] |
Chr2:85550045 [GRCh38]
Chr2:85777168 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.444T>A (p.Tyr148Ter) |
single nucleotide variant |
not provided [RCV003564737] |
Chr2:85558535 [GRCh38]
Chr2:85785658 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.603A>G (p.Ala201=) |
single nucleotide variant |
not provided [RCV003823752] |
Chr2:85556197 [GRCh38]
Chr2:85783320 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1230C>T (p.His410=) |
single nucleotide variant |
GGCX-related disorder [RCV003966529]|not provided [RCV003567910] |
Chr2:85552996 [GRCh38]
Chr2:85780119 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_000821.7(GGCX):c.15C>G (p.Ala5=) |
single nucleotide variant |
not provided [RCV003853499] |
Chr2:85561414 [GRCh38]
Chr2:85788537 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.2038C>T (p.Arg680Ter) |
single nucleotide variant |
not provided [RCV003866097] |
Chr2:85550601 [GRCh38]
Chr2:85777724 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.1476T>C (p.Ala492=) |
single nucleotide variant |
not provided [RCV003859635] |
Chr2:85551945 [GRCh38]
Chr2:85779068 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.540-13T>G |
single nucleotide variant |
not provided [RCV003564918] |
Chr2:85556273 [GRCh38]
Chr2:85783396 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.539+12G>C |
single nucleotide variant |
not provided [RCV003819962] |
Chr2:85558428 [GRCh38]
Chr2:85785551 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1889-11C>T |
single nucleotide variant |
not provided [RCV003864665] |
Chr2:85550761 [GRCh38]
Chr2:85777884 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1182G>A (p.Leu394=) |
single nucleotide variant |
not provided [RCV003858773] |
Chr2:85553044 [GRCh38]
Chr2:85780167 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1500C>T (p.Ser500=) |
single nucleotide variant |
not provided [RCV003676468] |
Chr2:85551921 [GRCh38]
Chr2:85779044 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1896G>A (p.Gly632=) |
single nucleotide variant |
GGCX-related disorder [RCV003962057] |
Chr2:85550743 [GRCh38]
Chr2:85777866 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1741-10C>T |
single nucleotide variant |
GGCX-related disorder [RCV003981375] |
Chr2:85551082 [GRCh38]
Chr2:85778205 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.207T>C (p.Phe69=) |
single nucleotide variant |
GGCX-related disorder [RCV003964312] |
Chr2:85560822 [GRCh38]
Chr2:85787945 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*5G>A |
single nucleotide variant |
GGCX-related disorder [RCV003949607] |
Chr2:85549929 [GRCh38]
Chr2:85777052 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.590T>A (p.Leu197His) |
single nucleotide variant |
Inborn genetic diseases [RCV004390421] |
Chr2:85556210 [GRCh38]
Chr2:85783333 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1785C>G (p.Ser595Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004390417] |
Chr2:85551028 [GRCh38]
Chr2:85778151 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1931G>C (p.Gly644Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004390418] |
Chr2:85550708 [GRCh38]
Chr2:85777831 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1442T>A (p.Ile481Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004390416] |
Chr2:85551979 [GRCh38]
Chr2:85779102 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.2240C>T (p.Pro747Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004390420] |
Chr2:85549971 [GRCh38]
Chr2:85777094 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NC_000002.11:g.(?_85778214)_(85779781_?)del |
deletion |
not provided [RCV004583750] |
Chr2:85778214..85779781 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| NM_000821.7(GGCX):c.2257C>T (p.Pro753Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004623880] |
Chr2:85549954 [GRCh38]
Chr2:85777077 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1052A>G (p.Lys351Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004626991] |
Chr2:85553335 [GRCh38]
Chr2:85780458 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1510C>T (p.Pro504Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004626992] |
Chr2:85551911 [GRCh38]
Chr2:85779034 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.1889-7C>T |
single nucleotide variant |
GGCX-related disorder [RCV004754168] |
Chr2:85550757 [GRCh38]
Chr2:85777880 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.1454G>A (p.Arg485His) |
single nucleotide variant |
not provided [RCV004722320] |
Chr2:85551967 [GRCh38]
Chr2:85779090 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.890-109_890-107del |
microsatellite |
not provided [RCV004720119] |
Chr2:85553604..85553606 [GRCh38]
Chr2:85780727..85780729 [GRCh37]
Chr2:2p11.2 |
likely benign |
