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Items: 1 to 100 of 310

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:129609039
GRCh38:
Chr6:129287894
LAMA2C862YMuscular dystrophy, limb-girdle, autosomal recessive 23Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr6:129204419
GRCh38:
Chr6:128883274
LAMA2L10HMuscular dystrophy, limb-girdle, autosomal recessive 23Uncertain significancecriteria provided, single submitter
3.
GRCh37:
Chr6:129618849-129618850
GRCh38:
Chr6:129297704-129297705
LAMA2S960fsMuscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jun 24, 2019)
criteria provided, single submitter
4.
GRCh37:
Chr6:129823868-129823869
GRCh38:
Chr6:129502723-129502724
LAMA2, LOC126859784N2767fs, N2771fsMuscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr6:129691050
GRCh38:
Chr6:129369905
LAMA2P1625LMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23, LAMA2-related muscular dystrophy
Uncertain significance
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr6:129663518
GRCh38:
Chr6:129342373
LAMA2C1448Rnot specified, Muscular dystrophy, limb-girdle, autosomal recessive 23Conflicting interpretations of pathogenicity
(Jul 21, 2023)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr6:129712686
GRCh38:
Chr6:129391541
LAMA2E1708*Muscular dystrophy, limb-girdle, autosomal recessive 23Pathogenic
(Feb 8, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr6:129419454
Chr6:129828663
GRCh38:
Chr6:129098309
Chr6:129507518
LAMA2, LAMA2T178M, R2907S, R2911SMuscular dystrophy, limb-girdle, autosomal recessive 23Uncertain significance
(Nov 29, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:129618905
Chr6:129601277
GRCh38:
Chr6:129297760
Chr6:129280132
LAMA2, LAMA2D978N, G841EMuscular dystrophy, limb-girdle, autosomal recessive 23Uncertain significance
(Nov 29, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr6:129511415-129511416
GRCh38:
Chr6:129190270-129190271
LAMA2W512fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr6:129513845
GRCh38:
Chr6:129192700
LAMA2W543*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:129813119
GRCh38:
Chr6:129491974
LAMA2K2655fs, K2659fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr6:129612785-129612791
GRCh38:
Chr6:129291640-129291646
LAMA2F926fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 31, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr6:129774262
GRCh38:
Chr6:129453117
LAMA2G2187fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 30, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr6:129762020-129762021
GRCh38:
Chr6:129440875-129440876
LOC123864065, LAMA2K2049fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 29, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr6:129725075
GRCh38:
Chr6:129403930
LAMA2K1946*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 3, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:129762123-129762124
GRCh38:
Chr6:129440978-129440979
LAMA2, LOC123864065V2083fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 27, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr6:129786349-129786351
GRCh38:
Chr6:129465204-129465206
LAMA2S2406fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 21, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr6:129687465-129687471
GRCh38:
Chr6:129366320-129366326
LAMA2K1607fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 21, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr6:129381032
GRCh38:
Chr6:129059887
LAMA2L130fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 18, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr6:129498908
GRCh38:
Chr6:129177763
LAMA2C456fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 17, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr6:129618886
GRCh38:
Chr6:129297741
LAMA2F972fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23, LAMA2-related muscular dystrophy
Pathogenic/Likely pathogenic
(Apr 2, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:129380931
GRCh38:
Chr6:129059786
LAMA2R96*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 16, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr6:129799875
GRCh38:
Chr6:129478730
LAMA2K2493*, K2497*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 16, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr6:129762107
GRCh38:
Chr6:129440962
LAMA2, LOC123864065K2078*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 16, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr6:129813587-129813590
GRCh38:
Chr6:129492442-129492445
LAMA2T2732fs, T2736fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 16, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr6:129511443-129511444
GRCh38:
Chr6:129190298-129190299
LAMA2S521fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 30, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:129807640-129807641
GRCh38:
Chr6:129486495-129486496
LAMA2N2587fs, N2591fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 26, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:129649540
GRCh38:
Chr6:129328395
LAMA2E1432*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 21, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:129591792
GRCh38:
Chr6:129270647
LAMA2P783fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 20, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:129641791-129641794
GRCh38:
Chr6:129320646-129320649
LAMA2S1390fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:129588274-129588275
GRCh38:
Chr6:129267129-129267130
LAMA2V745fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr6:129581923-129581924
GRCh38:
Chr6:129260778-129260779
LAMA2V723fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 18, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:129826398-129826399
GRCh38:
Chr6:129505253-129505254
LAMA2N2864fs, N2868fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 18, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:129775369
GRCh38:
Chr6:129454224
LAMA2G2215*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:129670510
GRCh38:
Chr6:129349365
LAMA2E1502*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 14, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:129785568-129785569
GRCh38:
Chr6:129464423-129464424
LAMA2L2376fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 14, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:129635808
GRCh38:
Chr6:129314663
LAMA2E1141fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 7, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:129802415-129802416
GRCh38:
Chr6:129481270-129481271
LAMA2T2524fs, T2528fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(May 1, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:129785584
GRCh38:
Chr6:129464439
LAMA2A2381fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 8, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr6:129601276
GRCh38:
Chr6:129280131
LAMA2G841*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Apr 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:129475719
GRCh38:
Chr6:129154574
LAMA2L366*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Apr 20, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:129824252-129824258
GRCh38:
Chr6:129503107-129503113
LAMA2V2789fs, V2793fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Apr 18, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:129802510
GRCh38:
Chr6:129481365
LAMA2E2555*, E2559*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Apr 7, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:129748944-129748945
GRCh38:
Chr6:129427799-129427800
LAMA2Q1972fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 8, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr6:129591850
GRCh38:
Chr6:129270705
LAMA2E802*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:129621982-129621983
GRCh38:
Chr6:129300837-129300838
LAMA2N1047fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:129419428-129419429
GRCh38:
Chr6:129098283-129098284
LAMA2A170fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:129609122
GRCh38:
Chr6:129287977
LAMA2K890fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:129601226
GRCh38:
Chr6:129280081
LAMA2L824*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:129618852
GRCh38:
Chr6:129297707
LAMA2S960*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr6:129486747
GRCh38:
Chr6:129165602
LAMA2C411*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 5, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr6:129802493
GRCh38:
Chr6:129481348
LAMA2S2549*, S2553*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:129470225
GRCh38:
Chr6:129149080
LAMA2T339fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 4, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:129828710
GRCh38:
Chr6:129507565
LAMA2S2924fs, S2928fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:129591846-129591847
GRCh38:
Chr6:129270701-129270702
LAMA2S801fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:129475816-129475819
GRCh38:
Chr6:129154671-129154674
LAMA2R399fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:129687397-129687398
GRCh38:
Chr6:129366252-129366253
LAMA2D1585fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 29, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:129802456-129802457
GRCh38:
Chr6:129481311-129481312
LAMA2P2537fs, P2541fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 28, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:129786426
GRCh38:
Chr6:129465281
LAMA2K2432fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr6:129513902-129513903
GRCh38:
Chr6:129192757-129192758
LAMA2S563fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 24, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:129691089
GRCh38:
Chr6:129369944
LAMA2Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:129634240
GRCh38:
Chr6:129313095
LAMA2K1137*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:129674361
GRCh38:
Chr6:129353216
LAMA2E1526*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:129419431-129419432
GRCh38:
Chr6:129098286-129098287
LAMA2V171fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr6:129786412-129786415
GRCh38:
Chr6:129465267-129465270
LAMA2L2427fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:129826394-129826395
GRCh38:
Chr6:129505249-129505250
LAMA2S2863fs, S2867fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 2, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr6:129663572-129663573
GRCh38:
Chr6:129342427-129342428
LAMA2C1466fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Dec 1, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr6:129612791-129612792
GRCh38:
Chr6:129291646-129291647
LAMA2E928fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 6, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:129704367
GRCh38:
Chr6:129383222
LAMA2D1688fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:129723578-129723579
GRCh38:
Chr6:129402433-129402434
LAMA2Q1892fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Mar 2, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:129759850-129759851
GRCh38:
Chr6:129438705-129438706
LAMA2D2011fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:129828642
GRCh38:
Chr6:129507497
LAMA2Y2900*, Y2904*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:129641730
GRCh38:
Chr6:129320585
LAMA2T1369fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Nov 18, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr6:129573348-129573354
GRCh38:
Chr6:129252203-129252209
LAMA2V669fsMuscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Feb 24, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:129637067
GRCh38:
Chr6:129315922
LAMA2L1299*Muscular dystrophy, limb-girdle, autosomal recessive 23, Merosin deficient congenital muscular dystrophyLikely pathogenic
(Feb 20, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:129636770
GRCh38:
Chr6:129315625
LAMA2W1235*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Nov 14, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr6:129601216-129601231
GRCh38:
Chr6:129280071-129280086
LAMA2T821fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:129486803-129486804
GRCh38:
Chr6:129165658-129165659
LAMA2E430fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:129513882
GRCh38:
Chr6:129192737
LAMA2Q557fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:129802412-129802413
GRCh38:
Chr6:129481267-129481268
LAMA2Y2523fs, Y2527fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 12, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:129591841
GRCh38:
Chr6:129270696
LAMA2G799*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 8, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:129712748
GRCh38:
Chr6:129391603
LAMA2R1729fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 7, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:129807703
GRCh38:
Chr6:129486558
LAMA2R2608*, R2612*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 7, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:129573273-129573275
GRCh38:
Chr6:129252128-129252130
LAMA2H644fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 1, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:129498973
GRCh38:
Chr6:129177828
LAMA2K477*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Feb 1, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:129634120-129634121
GRCh38:
Chr6:129312975-129312976
LAMA2H1097fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 31, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:129465135-129465136
GRCh38:
Chr6:129143990-129143991
LAMA2R244fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 28, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:129725090
GRCh38:
Chr6:129403945
LAMA2E1951*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 28, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:129775413
GRCh38:
Chr6:129454268
LAMA2W2229*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 27, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:129612820
GRCh38:
Chr6:129291675
LAMA2C937*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 25, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:129714227
GRCh38:
Chr6:129393082
LAMA2F1758fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 25, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:129824420
GRCh38:
Chr6:129503275
LAMA2H2844fs, H2848fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 25, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:129470180
GRCh38:
Chr6:129149035
LAMA2C322*Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 25, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:129794430
GRCh38:
Chr6:129473285
LAMA2F2458fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Nov 5, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:129641734
GRCh38:
Chr6:129320589
LAMA2M1370fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 24, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:129723474-129723475
GRCh38:
Chr6:129402329-129402330
LAMA2E1857fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:129714236-129714237
GRCh38:
Chr6:129393091-129393092
LAMA2R1762fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 11, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:129824308-129824309
GRCh38:
Chr6:129503163-129503164
LAMA2A2807fs, A2811fsMerosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23Likely pathogenic
(Jan 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:129604517-130268447
ARHGAP18, LAMA2, TMEM244Muscular dystrophy, limb-girdle, autosomal recessive 23Pathogeniccriteria provided, single submitter
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