| - GRCh37:
- Chr1:76199222
- GRCh38:
- Chr1:75733537
| ACADM | G103V, G99V, G132V, G63V | Medium-chain acyl-coenzyme A dehydrogenase deficiency, not provided | Uncertain significance
(Dec 30, 2020) | criteria provided, multiple submitters, no conflicts | VCV000226063 |
| - GRCh37:
- Chr3:15518703
- GRCh38:
- Chr3:15477196
| COLQ | G122V, G132V, G98V | Congenital myasthenic syndrome 5 | Uncertain significance
(Oct 19, 2021) | criteria provided, single submitter | VCV001387882 |
| - GRCh37:
- Chr5:86564663-86564664
- GRCh38:
- Chr5:87268846-87268847
| RASA1 | G132V | Capillary malformation-arteriovenous malformation syndrome | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter | VCV000464868 |
| - GRCh37:
- Chr5:112103030
- GRCh38:
- Chr5:112767333
| APC | G132V, G122V, G63V, G97V | not provided, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
| Uncertain significance
(May 26, 2022) | criteria provided, multiple submitters, no conflicts | VCV000482299 |
| - GRCh37:
- Chr7:87214929
- GRCh38:
- Chr7:87585613
| ABCB1 | G62V, G132V | Tramadol response | drug response
(Apr 28, 2018) | no assertion criteria provided | VCV000829370 |
| - GRCh37:
- Chr8:90983462
- GRCh38:
- Chr8:89971234
| NBN | G132V, G214V | Hereditary cancer-predisposing syndrome | Uncertain significance
(Apr 4, 2019) | criteria provided, single submitter | VCV000919341 |
| - GRCh37:
- Chr9:13223708
- GRCh38:
- Chr9:13223709
| MPDZ | G132V | not provided | Uncertain significance
(Dec 19, 2021) | criteria provided, single submitter | VCV001055498 |
| - GRCh37:
- Chr10:89692911
- GRCh38:
- Chr10:87933154
| PTEN | G132V, G305V | Hereditary cancer-predisposing syndrome, not provided, Cowden syndrome 1,
PTEN hamartoma tumor syndrome | Pathogenic/Likely pathogenic
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts | VCV000007852 |
| - GRCh37:
- Chr11:31823314
- GRCh38:
- Chr11:31801766
| PAX6 | G51V, G90V, G65V, G66V, G132V, G76V | Ocular anterior segment dysgenesis, Irido-corneo-trabecular dysgenesis | Pathogenic/Likely pathogenic
(Mar 31, 2020) | no assertion criteria provided | VCV000068469 |
| - GRCh37:
- Chr14:53619422
- GRCh38:
- Chr14:53152704
| DDHD1 | G132V | not provided | Uncertain significance
(Jan 6, 2020) | criteria provided, single submitter | VCV001311754 |
| - GRCh37:
- Chr16:49672668
- GRCh38:
- Chr16:49638757
| ZNF423 | G132V, G140V, G15V, G72V | Nephronophthisis 14 | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter | VCV001062538 |
| - GRCh37:
- Chr17:47696428
- GRCh38:
- Chr17:49619066
| SPOP | G132V | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | Likely pathogenic
(Sep 10, 2020) | criteria provided, single submitter | VCV000830357 |
| - GRCh37:
- Chr19:4110562
- GRCh38:
- Chr19:4110564
| MAP2K2 | G132V | RASopathy | Likely pathogenic
(Aug 12, 2021) | criteria provided, single submitter | VCV001495968 |
| - GRCh37:
- ChrX:135289326
- GRCh38:
- ChrX:136207167
| FHL1 | G103V, G119V, G132V | not provided, X-linked myopathy with postural muscle atrophy | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts | VCV000497860 |
| - GRCh37:
- ChrX:152956759
- GRCh38:
- ChrX:153691304
| SLC6A8 | G132V, G17V | Creatine transporter deficiency | Pathogenic
(Nov 14, 2006) | no assertion criteria provided | VCV000011703 |