| - GRCh37:
- Chr11:22297620-22301311
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22261095-22261250
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257723
- GRCh38:
- Chr11:22236177
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22283756
- GRCh38:
- Chr11:22262210
| ANO5 | S556F, S557F, S570F, S571F | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22271895
- GRCh38:
- Chr11:22250349
| ANO5 | S316T, S317T, S330T, S331T | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272560
- GRCh38:
- Chr11:22251014
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22248876
- GRCh38:
- Chr11:22227330
| ANO5 | V116G, V130G, V117G, V131G | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22301158
- GRCh38:
- Chr11:22279612
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22294470
- GRCh38:
- Chr11:22272924
| ANO5 | A709P, A710P, A723P, A724P | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22283656
- GRCh38:
- Chr11:22262110
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Benign
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22279222
- GRCh38:
- Chr11:22257676
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272348
- GRCh38:
- Chr11:22250802
| ANO5 | V358M, V344M, V345M, V359M | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22271770-22271771
- GRCh38:
- Chr11:22250224-22250225
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22261184
- GRCh38:
- Chr11:22239638
| ANO5 | A263P, A278P, A264P, A277P | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22279221
- GRCh38:
- Chr11:22257675
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257839
- GRCh38:
- Chr11:22236293
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Feb 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22248859
- GRCh38:
- Chr11:22227313
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291923
- GRCh38:
- Chr11:22270377
| ANO5 | W655*, W640*, W641*, W654* | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22271937
- GRCh38:
- Chr11:22250391
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257798
- GRCh38:
- Chr11:22236252
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22248845
- GRCh38:
- Chr11:22227299
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22279265
- GRCh38:
- Chr11:22257719
| ANO5 | W443R, W458R, W457R, W444R | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, not provided
| Uncertain significance
(Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22283701
- GRCh38:
- Chr11:22262155
| ANO5 | E552K, E539K, E553K, E538K | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22281263
- GRCh38:
- Chr11:22259717
| ANO5 | I535L, I536L, I522L, I521L | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, not provided
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22248958
- GRCh38:
- Chr11:22227412
| ANO5 | I143M, I144M, I157M, I158M | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296173
- GRCh38:
- Chr11:22274627
| ANO5 | Y750S, Y764S, Y751S, Y765S | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22261111
- GRCh38:
- Chr11:22239565
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22297649
- GRCh38:
- Chr11:22276103
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257830-22257832
- GRCh38:
- Chr11:22236284-22236286
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257828
- GRCh38:
- Chr11:22236282
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257824-22257825
- GRCh38:
- Chr11:22236278-22236279
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22242774
- GRCh38:
- Chr11:22221228
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22283656
- GRCh38:
- Chr11:22262110
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272323
- GRCh38:
- Chr11:22250777
| ANO5 | M335I, M336I, M349I, M350I | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22294312
- GRCh38:
- Chr11:22272766
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22271924
- GRCh38:
- Chr11:22250378
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22277084
- GRCh38:
- Chr11:22255538
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22294522
- GRCh38:
- Chr11:22272976
| ANO5 | S726Y, S727Y, S741Y, S740Y | not provided, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
| Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22283837
- GRCh38:
- Chr11:22262291
| ANO5 | S583I, S597I, S598I, S584I | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22261215
- GRCh38:
- Chr11:22239669
| ANO5 | P288L, P287L, P274L, P273L | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22232872
- GRCh38:
- Chr11:22211326
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291992-22291993
- GRCh38:
- Chr11:22270446-22270447
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Benign
(Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22232880
- GRCh38:
- Chr11:22211334
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22248915-22248916
- GRCh38:
- Chr11:22227369-22227370
| ANO5 | A144fs, A143fs | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22297734
- GRCh38:
- Chr11:22276188
| ANO5 | I836V, I823V, I837V, I822V | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22301107
- GRCh38:
- Chr11:22279561
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22281156
- GRCh38:
- Chr11:22259610
| ANO5 | S500F, S499F, S485F, S486F | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely pathogenic
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272298
- GRCh38:
- Chr11:22250752
| ANO5 | C328Y, C327Y, C342Y, C341Y | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely pathogenic
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22301273
- GRCh38:
- Chr11:22279727
| ANO5 | E888K, E887K, E901K, E902K | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22247519
- GRCh38:
- Chr11:22225973
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257814
- GRCh38:
- Chr11:22236268
| ANO5 | L251V, L237V, L238V, L252V | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272376
- GRCh38:
- Chr11:22250830
| ANO5 | T353R, T367R, T368R, T354R | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257715
- GRCh38:
- Chr11:22236169
| ANO5 | Y218H, Y204H, Y205H, Y219H | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22283658
- GRCh38:
- Chr11:22262112
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22249136
- GRCh38:
- Chr11:22227590
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296158
- GRCh38:
- Chr11:22274612
| ANO5 | V759D, V745D, V746D, V760D | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22232871
- GRCh38:
- Chr11:22211325
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22242747
- GRCh38:
- Chr11:22221201
| ANO5 | E94D, E81D, E80D, E95D | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22284564
- GRCh38:
- Chr11:22263018
| ANO5 | G611*, G610*, G624*, G625* | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22247575
- GRCh38:
- Chr11:22226029
| ANO5 | E113fs, E114fs | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257826
- GRCh38:
- Chr11:22236280
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22232859
- GRCh38:
- Chr11:22211313
| ANO5 | M45K, M46K | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272325
- GRCh38:
- Chr11:22250779
| ANO5 | I351T, I350T, I336T, I337T | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22283724
- GRCh38:
- Chr11:22262178
| ANO5 | M560fs, M559fs | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291882
- GRCh38:
- Chr11:22270336
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22242744-22242745
- GRCh38:
- Chr11:22221198-22221199
| ANO5 | E95fs, E94fs | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296162
- GRCh38:
- Chr11:22274616
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22281127
- GRCh38:
- Chr11:22259581
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296236
- GRCh38:
- Chr11:22274690
| ANO5 | I772K, I786K, I771K, I785K | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22281146
- GRCh38:
- Chr11:22259600
| ANO5 | S482G, S483G, S496G, S497G | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291920
- GRCh38:
- Chr11:22270374
| ANO5 | R639Q, R653Q, R640Q, R654Q | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22249136
- GRCh38:
- Chr11:22227590
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22301272
- GRCh38:
- Chr11:22279726
| ANO5 | I887M, I900M, I886M, I901M | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257781
- GRCh38:
- Chr11:22236235
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22301072
- GRCh38:
- Chr11:22279526
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Oct 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22279264
- GRCh38:
- Chr11:22257718
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22257741
- GRCh38:
- Chr11:22236195
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22284484
- GRCh38:
- Chr11:22262938
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22261203
- GRCh38:
- Chr11:22239657
| ANO5 | Y283F, Y284F, Y269F, Y270F | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22294507
- GRCh38:
- Chr11:22272961
| ANO5 | G721E, G735E, G722E, G736E | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291951
- GRCh38:
- Chr11:22270405
| ANO5 | F649L, F650L, F664L, F663L | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22294481
- GRCh38:
- Chr11:22272935
| ANO5 | I726M, I713M, I727M, I712M | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22232859
- GRCh38:
- Chr11:22211313
| ANO5 | M46T, M45T | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22242768
- GRCh38:
- Chr11:22221222
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22247522
- GRCh38:
- Chr11:22225976
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22271854
- GRCh38:
- Chr11:22250308
| ANO5 | A303E, A316E, A302E, A317E | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, not specified
| Uncertain significance
(Jun 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22284580
- GRCh38:
- Chr11:22263034
| ANO5 | A615G, A616G, A629G, A630G | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22215060
- GRCh38:
- Chr11:22193514
| ANO5 | E8K | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291924
- GRCh38:
- Chr11:22270378
| ANO5 | W640*, W641*, W655*, W654* | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22284485
- GRCh38:
- Chr11:22262939
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296093-22296095
- GRCh38:
- Chr11:22274547-22274549
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296093-22296096
- GRCh38:
- Chr11:22274547-22274550
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22296241
- GRCh38:
- Chr11:22274695
| ANO5 | D787H, D774H, D773H, D788H | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22301110
- GRCh38:
- Chr11:22279564
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22249025-22249039
- GRCh38:
- Chr11:22227479-22227493
| ANO5 | | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22248849
- GRCh38:
- Chr11:22227303
| ANO5 | D108G, D121G, D107G, D122G | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22249069
- GRCh38:
- Chr11:22227523
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22261108
- GRCh38:
- Chr11:22239562
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22291951
- GRCh38:
- Chr11:22270405
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Likely benign
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22283828
- GRCh38:
- Chr11:22262282
| ANO5 | E594fs, E595fs | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |