| - GRCh37:
- ChrX:19021009
- GRCh38:
- ChrX:19002891
| ADGRG2 | T691A, T699A, T705A, T707A, T713A, T715A, T726A, T729A | Vas deferens, congenital bilateral aplasia of, X-linked | Uncertain significance
(Oct 9, 2023) | no assertion criteria provided |
| - GRCh37:
- ChrX:19046349
- GRCh38:
- ChrX:19028231
| ADGRG2 | F100fs, F106fs, F108fs, F119fs, F122fs, F84fs, F92fs, F98fs | Vas deferens, congenital bilateral aplasia of, X-linked | Likely pathogenic
(Oct 9, 2023) | no assertion criteria provided |
| - GRCh37:
- ChrX:19025424
- GRCh38:
- ChrX:19007306
| ADGRG2 | V518I, V502I, V537I, V510I, V516I, V526I, V540I, V524I | Vas deferens, congenital bilateral aplasia of, X-linked | Uncertain significance
(Sep 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19026118-19026119
- GRCh38:
- ChrX:19008000-19008001
| ADGRG2 | E478*, E494*, E486*, E513*, E492*, E500*, E502*, E516* | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Apr 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19021188-19021192
- GRCh38:
- ChrX:19003070-19003074
| ADGRG2 | L644fs, L654fs, L646fs, L665fs, L638fs, L652fs, L630fs, L668fs | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Apr 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19013038
- GRCh38:
- ChrX:18994920
| ADGRG2 | C919fs, C925fs, C911fs, C949fs, C946fs, C927fs, C933fs, C935fs | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Apr 12, 2016) | criteria provided, single submitter |