Total 34 pathogenic variants reported for Vitamin K-dependent clotting factors, combined deficiency of, type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) SNV
Germline		 Chr2:85553045 Pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 No Assertion Criteria Provided
 CA126262 rs_121909675

1 SubmittersRCV000017578
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) SNV
Germline		 Chr2:85551919 Pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 No Assertion Criteria Provided
 CA126263 rs_28928872

1 SubmittersRCV000017579
NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) SNV
Germline		 Chr2:85551967 Pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA126264 rs_121909676

2 SubmittersRCV000017581RCV003556035
NM_000821.7(GGCX):c.215-1G>T SNV
Germline		 Chr2:85559076 Pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 No Assertion Criteria Provided
 CA212965 rs_786205096

1 SubmittersRCV000017582
NM_000821.7(GGCX):c.763G>A (p.Val255Met) SNV
Germline		 Chr2:85554269 Pathogenic/Likely pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Condition: not provided
GGCX - Related Disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214957 rs_121909683

5 SubmittersRCV000017590RCV001824572RCV001851893RCV005249990
NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr) SNV
Germline		 Chr2:85550733 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided
GGCX-related disorder
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency		 Criteria Provided
Conflicting Classifications
 CA1741686 rs_61733105

5 SubmittersRCV000398188RCV000879256RCV003932342RCV004820842
NM_000821.7(GGCX):c.24G>A (p.Ala8=) SNV
Germline		 Chr2:85561405 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742255 rs_371622780

3 SubmittersRCV000294993RCV002057719
NM_000821.7(GGCX):c.198C>T (p.Val66=) SNV
Germline		 Chr2:85560831 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742203 rs_147427088

2 SubmittersRCV000329103RCV003765964
NM_000821.7(GGCX):c.159C>A (p.Thr53=) SNV
Germline		 Chr2:85560870 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742207 rs_61733104

2 SubmittersRCV000293731RCV002057718
NM_000821.7(GGCX):c.*107T>G SNV
Germline		 Chr2:85549827 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10616175 rs_78909830

2 SubmittersRCV000373520RCV001691962
NM_000821.7(GGCX):c.849G>C (p.Val283=) SNV
Germline		 Chr2:85554183 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742001 rs_149603998

2 SubmittersRCV000262362RCV002057716
NM_000821.7(GGCX):c.789C>T (p.Asp263=) SNV
Germline		 Chr2:85554243 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742014 rs_146085955

3 SubmittersRCV000322165RCV002057717
NM_000821.7(GGCX):c.507T>C (p.Phe169=) SNV
Germline		 Chr2:85558472 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742117 rs_536257863

2 SubmittersRCV000382491RCV002519991
NM_000821.7(GGCX):c.2133T>G (p.Pro711=) SNV
Germline		 Chr2:85550078 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10616328 rs_886056379

2 SubmittersRCV000377112RCV002519988
NM_000821.7(GGCX):c.1107C>T (p.Leu369=) SNV
Germline		 Chr2:85553280 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided
GGCX-related disorder		 Criteria Provided
Conflicting Classifications
 CA1741924 rs_145056129

3 SubmittersRCV000297724RCV002523144RCV003972426
NM_000821.7(GGCX):c.529A>G (p.Asn177Asp) SNV
Germline		 Chr2:85558450 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided
GGCX-related disorder		 Criteria Provided
Conflicting Classifications
 CA1742108 rs_149039591

3 SubmittersRCV000323161RCV000907563RCV003910308
NM_000821.7(GGCX):c.*3770T>C SNV
Germline		 Chr2:85546164 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA51729044 rs_141040739

2 SubmittersRCV001143174RCV003425950
NM_000821.7(GGCX):c.1743G>A (p.Leu581=) SNV
Germline		 Chr2:85551070 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1741738 rs_56165933

2 SubmittersRCV001136908RCV002070597
NM_000821.7(GGCX):c.1485C>T (p.Pro495=) SNV
Germline		 Chr2:85551936 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA427440113 rs_1691972995

2 SubmittersRCV001136909RCV005056925
NM_000821.7(GGCX):c.990G>C (p.Leu330=) SNV
Germline		 Chr2:85553397 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1741952 rs_374754358

2 SubmittersRCV001141774RCV002557012
NM_000821.7(GGCX):c.903C>T (p.Tyr301=) SNV
Germline		 Chr2:85553484 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1741975 rs_751710756

2 SubmittersRCV001141775RCV005056934
NM_000821.7(GGCX):c.745C>T (p.Leu249=) SNV
Germline		 Chr2:85554287 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA427087400 rs_1262224787

2 SubmittersRCV001143584RCV003708577
NM_000821.7(GGCX):c.654G>A (p.Lys218=) SNV
Germline		 Chr2:85555555 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA51737840 rs_774751096

2 SubmittersRCV001143585RCV003769687
NM_000821.7(GGCX):c.1439+15C>T SNV
Germline		 Chr2:85552401 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1741821 rs_758719852

2 SubmittersRCV001136912RCV003769648
NM_000821.7(GGCX):c.1155+12C>A SNV
Germline		 Chr2:85553220 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA894040679 rs_1284965933

2 SubmittersRCV001139153RCV002070643
NM_000821.7(GGCX):c.540-8C>T SNV
Germline		 Chr2:85556268 Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1742080 rs_374625413

2 SubmittersRCV001137012RCV003546641
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) SNV
Germline		 Chr2:85550652 Pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA347482902 rs_1691898752

2 SubmittersRCV001280813RCV003698858
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) SNV
Germline		 Chr2:85554259 Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 No Assertion Criteria Provided
 CA347489260 rs_1692107154

1 SubmittersRCV001280812
NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly) SNV
Germline		 Chr2:85552429 Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 No Assertion Criteria Provided

1 SubmittersRCV004689392
NM_000821.7(GGCX):c.1282C>T (p.Pro428Ser) SNV
Germline		 Chr2:85552944 Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004819932
NM_000821.7(GGCX):c.610C>T (p.Arg204Cys) SNV
Germline		 Chr2:85556190 Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV005365674
NM_000821.7(GGCX):c.1837C>T (p.Gln613Ter) SNV
Germline		 Chr2:85550976 Pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005412239