Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000552.5(VWF):c.374_387del (p.Gly125fs) | VWF | Likely pathogenic | 12 | 6219685 | 6219698 | ACAGCTTGTAGTACC | A | criteria provided, single submitter | ClinGen:CA228439 |
single nucleotide variant | NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) | VWF | Likely pathogenic | 12 | 6131126 | 6131126 | C | A | criteria provided, single submitter | ClinGen:CA228427 |
single nucleotide variant | NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) | VWF | Likely pathogenic | 12 | 6132817 | 6132817 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA228396 |
single nucleotide variant | NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys) | VWF | Likely pathogenic | 12 | 6132944 | 6132944 | C | T | criteria provided, single submitter | ClinGen:CA228384 |
single nucleotide variant | NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) | VWF | Likely pathogenic | 12 | 6138539 | 6138539 | C | T | criteria provided, single submitter | ClinGen:CA228372 |
single nucleotide variant | NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) | VWF | Likely pathogenic | 12 | 6143979 | 6143979 | G | A | criteria provided, single submitter | ClinGen:CA228351 |
Deletion | NM_000552.5(VWF):c.2516del (p.Gly839fs) | VWF | Likely pathogenic | 12 | 6145584 | 6145584 | TC | T | criteria provided, single submitter | ClinGen:CA228347 |
single nucleotide variant | NM_000552.5(VWF):c.2447G>A (p.Arg816Gln) | VWF | Likely pathogenic | 12 | 6145653 | 6145653 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228343 |