| - GRCh37:
- Chr11:66984735-69263366
- GRCh38:
- Chr11:67217264-69448598
| ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, C11orf24, CABP2, CABP4, CARNS1, CDK2AP2, CHKA, CHKA-DT, CLCF1, CORO1B, CPT1A, GAL, GPR152, GRK2, GSTP1, IGHMBP2, KDM2A, KMT5B, LINC02754, LINC02952, LINC02953, LOC100130987, LOC105369367, LOC110121479, LOC111413018, LOC112081413, LOC112081415, LOC112081416, LOC112136078, LOC116216149, LOC116216150, LOC121392924, LOC121832795, LOC121832796, LOC124500678, LOC124500679, LOC124500680, LOC126861240, LOC126861241, LOC126861242, LOC126861243, LOC126861244, LOC126861245, LOC126861246, LOC126861247, LOC126861248, LOC129390296, LOC129390297, LOC129390298, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, LOC130006231, LOC130006232, LOC130006233, LOC130006234, LOC130006235, LOC130006236, LOC130006237, LOC130006238, LOC130006239, LOC130006240, LOC130006241, LOC130006242, LOC130006243, LOC130006244, LOC130006245, LOC130006246, LOC130006247, LOC130006248, LOC130006249, LOC130006250, LOC130006251, LOC130006252, LOC130006253, LOC130006254, LOC130006255, LOC130006256, LOC130006257, LOC130006258, LOC130006259, LOC130006260, LOC130006261, LOC130006262, LOC130006263, LOC130006264, LOC130006265, LOC130006266, LOC130006267, LOC130006268, LOC130006269, LOC130006270, LOC130006271, LOC130006272, LOC130006273, LOC130006274, LOC130006275, LOC130006276, LOC130006277, LOC130006278, LOC130006279, LOC130006280, LOC130006281, LOC130006282, LOC130006283, LOC130006284, LOC130006285, LOC130006286, LOC130006287, LOC130006288, LOC130006289, LOC338694, LRP5, MIR3164, MIR4691, MIR6752, MIR6753, MIR7113, MRGPRD, MRGPRF, MRGPRF-AS1, MRPL21, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NUDT8, PITPNM1, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAD9A, RPS6KB2, SMIM38, SSH3, TBC1D10C, TBX10, TCIRG1, TESMIN, TMEM134, TPCN2, UNC93B1 | | See cases | Likely pathogenic
(Aug 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:67799160-71304541
- GRCh38:
- Chr11:68031693-71593495
| LOC130006238, LOC130006239, LOC130006240, LOC130006241, LOC130006242, LOC130006243, LOC130006244, LOC130006245, LOC130006246, LOC130006247, LOC130006248, LOC130006249, LOC130006250, LOC130006251, LOC130006252, LOC130006253, LOC130006254, LOC130006255, LOC130006256, LOC130006257, LOC130006258, LOC130006259, LOC130006260, LOC130006261, LOC130006262, LOC130006263, LOC130006264, LOC130006265, LOC130006266, LOC130006267, LOC130006268, LOC130006269, LOC130006270, LOC130006271, LOC130006272, LOC130006273, LOC130006274, LOC130006275, LOC130006276, LOC130006277, LOC130006278, LOC130006279, LOC130006280, LOC130006281, LOC130006282, LOC130006283, LOC130006284, LOC130006285, LOC130006286, LOC130006287, LOC130006288, LOC130006289, LOC130006290, LOC130006291, LOC130006292, LOC130006293, LOC130006294, LOC130006295, LOC130006296, LOC130006297, LOC130006298, LOC130006299, LOC130006300, LOC130006301, LOC130006302, LOC130006303, LOC130006304, LOC130006305, LOC130006306, LOC130006307, LOC130006308, LOC130006309, LOC130006310, LOC130006311, LOC130006312, LOC132089942, LOC338694, LRP5, LTO1, MIR3164, MIR3664, MIR4691, MIR548K, MIR6753, MIR6754, MIR7113, MRGPRD, MRGPRF, MRGPRF-AS1, MRPL21, MYEOV, NADSYN1, NDUFS8, PPFIA1, PPP6R3, SHANK2, SHANK2-AS1, SHANK2-AS3, SMIM38, TCIRG1, TESMIN, TPCN2, ACTE1P, ANO1, C11orf24, CCND1, CHKA, CHKA-DT, CPT1A, CTTN, CTTN-DT, DHCR7, DHCR7-DT, FADD, FGF19, FGF3, FGF4, GAL, IGHMBP2, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LINC01488, LINC02584, LINC02747, LINC02753, LINC02952, LINC02953, LOC105369367, LOC105369373, LOC109115964, LOC109117330, LOC109117331, LOC109245078, LOC109245079, LOC110121462, LOC110121479, LOC111413018, LOC111501772, LOC112081415, LOC112081416, LOC112136078, LOC113939929, LOC116216149, LOC116216150, LOC121392925, LOC121392926, LOC121832796, LOC121832797, LOC121832798, LOC124500679, LOC124500680, LOC124500681, LOC124500682, LOC124500683, LOC126861243, LOC126861244, LOC126861245, LOC126861246, LOC126861247, LOC126861248, LOC126861249, LOC126861250, LOC126861251, LOC126861252, LOC126861253, LOC126861254, LOC126861255, LOC126861256, LOC128772347, LOC128772348, LOC128772349, LOC128772350, LOC128772351, LOC128772352, LOC128772353, LOC129390297, LOC129390298, LOC129390299, LOC129390300, LOC129390301, LOC129390302, LOC130006237 | | See cases | Likely pathogenic
(Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:67973430-69395243
- GRCh38:
- Chr11:68205963-69580475
| LOC130006287, LOC130006288, LOC130006289, LOC338694, LRP5, MIR3164, MRGPRD, MRGPRF, MRGPRF-AS1, MRPL21, MYEOV, PPP6R3, SMIM38, TESMIN, TPCN2, C11orf24, CPT1A, GAL, IGHMBP2, KMT5B, LINC01488, LINC02747, LINC02952, LINC02953, LOC105369367, LOC110121462, LOC110121479, LOC111413018, LOC111501772, LOC112081415, LOC112081416, LOC112136078, LOC116216149, LOC116216150, LOC121832796, LOC121832797, LOC124500679, LOC124500680, LOC126861243, LOC126861244, LOC126861245, LOC126861246, LOC126861247, LOC126861248, LOC128772347, LOC128772348, LOC128772349, LOC128772350, LOC128772351, LOC128772352, LOC128772353, LOC129390297, LOC129390298, LOC129390299, LOC130006243, LOC130006244, LOC130006245, LOC130006246, LOC130006247, LOC130006248, LOC130006249, LOC130006250, LOC130006251, LOC130006252, LOC130006253, LOC130006254, LOC130006255, LOC130006256, LOC130006257, LOC130006258, LOC130006259, LOC130006260, LOC130006261, LOC130006262, LOC130006263, LOC130006264, LOC130006265, LOC130006266, LOC130006267, LOC130006268, LOC130006269, LOC130006270, LOC130006271, LOC130006272, LOC130006273, LOC130006274, LOC130006275, LOC130006276, LOC130006277, LOC130006278, LOC130006279, LOC130006280, LOC130006281, LOC130006282, LOC130006283, LOC130006284, LOC130006285, LOC130006286 | | See cases | Likely benign
(Jan 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:68671101
- GRCh38:
- Chr11:68903633
| IGHMBP2, MRPL21 | | not provided | Likely benign
(Jul 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671104
- GRCh38:
- Chr11:68903636
| IGHMBP2, MRPL21 | | not provided | Benign
(Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671205
- GRCh38:
- Chr11:68903737
| IGHMBP2, MRPL21 | S25L | not provided | Likely benign
(Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671277
- GRCh38:
- Chr11:68903809
| IGHMBP2, MRPL21 | M1T | not provided | Benign
(Jul 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671280-68671281
- GRCh38:
- Chr11:68903812-68903813
| IGHMBP2, MRPL21 | | not provided | Benign
(Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671313
- GRCh38:
- Chr11:68903845
| IGHMBP2 | | not provided | Likely benign
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671353
- GRCh38:
- Chr11:68903885
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671372
- GRCh38:
- Chr11:68903904
| IGHMBP2 | | not specified | Likely benign
(Oct 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671387
- GRCh38:
- Chr11:68903919
| IGHMBP2 | | not specified | Likely benign
(Oct 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671391
- GRCh38:
- Chr11:68903923
| IGHMBP2 | | not specified | Likely benign
(Mar 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671393
- GRCh38:
- Chr11:68903925
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1, not specified | Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671396
- GRCh38:
- Chr11:68903928
| IGHMBP2 | | not specified | Likely benign
(Oct 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671407
- GRCh38:
- Chr11:68903939
| IGHMBP2 | | not specified | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671416
- GRCh38:
- Chr11:68903948
| IGHMBP2 | | not provided | Uncertain significance
(Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671417
- GRCh38:
- Chr11:68903949
| IGHMBP2 | | Spinal muscular atrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671419
- GRCh38:
- Chr11:68903951
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, not specified,
Charcot-Marie-Tooth disease, not provided | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671422
- GRCh38:
- Chr11:68903954
| IGHMBP2 | M1T | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases,
Autosomal recessive distal spinal muscular atrophy 1 | Pathogenic/Likely pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671424
- GRCh38:
- Chr11:68903956
| IGHMBP2 | A2T | Charcot-Marie-Tooth disease, Inborn genetic diseases | Uncertain significance
(Mar 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671424
- GRCh38:
- Chr11:68903956
| IGHMBP2 | A2S | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Inborn genetic diseases
| Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671426
- GRCh38:
- Chr11:68903958
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Apr 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671427
- GRCh38:
- Chr11:68903959
| IGHMBP2 | S3A | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671430
- GRCh38:
- Chr11:68903962
| IGHMBP2 | A4T | not specified | Uncertain significance
(Nov 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671432
- GRCh38:
- Chr11:68903964
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Likely benign
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671454-68671455
- GRCh38:
- Chr11:68903986-68903987
| IGHMBP2 | K12fs | Spinal muscular atrophy | Likely pathogenic
(Jun 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671456
- GRCh38:
- Chr11:68903988
| IGHMBP2 | K12N | Charcot-Marie-Tooth disease | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671470
- GRCh38:
- Chr11:68904002
| IGHMBP2 | L17P | Distal spinal muscular atrophy | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr11:68671477-68671478
- GRCh38:
- Chr11:68904009-68904010
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671477
- GRCh38:
- Chr11:68904009
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, not provided, Autosomal recessive distal spinal muscular atrophy 1,
Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease, Autosomal recessive distal spinal muscular atrophy 1,
not specified | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671478
- GRCh38:
- Chr11:68904010
| IGHMBP2 | E20K | Inborn genetic diseases | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671484
- GRCh38:
- Chr11:68904016
| IGHMBP2 | D22Y | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671486
- GRCh38:
- Chr11:68904018
| IGHMBP2 | D22E | not provided | Uncertain significance
(May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671490
- GRCh38:
- Chr11:68904022
| IGHMBP2 | E24K | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671503
- GRCh38:
- Chr11:68904035
| IGHMBP2 | R28H | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671513
- GRCh38:
- Chr11:68904045
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease
| Benign/Likely benign
(Nov 21, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68671746
- GRCh38:
- Chr11:68904278
| IGHMBP2 | | not provided | Benign
(Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68671788
- GRCh38:
- Chr11:68904320
| IGHMBP2 | | not provided | Likely benign
(Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673269
- GRCh38:
- Chr11:68905801
| IGHMBP2 | | not provided | Benign
(Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673377
- GRCh38:
- Chr11:68905909
| IGHMBP2 | | not provided | Likely benign
(Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673518
- GRCh38:
- Chr11:68906050
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease,
not specified | Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673526
- GRCh38:
- Chr11:68906058
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673528
- GRCh38:
- Chr11:68906060
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673539
- GRCh38:
- Chr11:68906071
| IGHMBP2 | S30F | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673542
- GRCh38:
- Chr11:68906074
| IGHMBP2 | W31* | Ptosis, Tachypnea, Severe muscular hypotonia,
Clonus, Hyperreflexia, Failure to thrive,
Respiratory distress | Pathogenic
(Feb 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673544
- GRCh38:
- Chr11:68906076
| IGHMBP2 | Q32* | Autosomal dominant distal hereditary motor neuropathy | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr11:68673553
- GRCh38:
- Chr11:68906085
| IGHMBP2 | I35L | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673553
- GRCh38:
- Chr11:68906085
| IGHMBP2 | I35V | Inborn genetic diseases, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S,
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease, not provided
| Conflicting interpretations of pathogenicity
(Sep 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:68673558
- GRCh38:
- Chr11:68906090
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Aug 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673562
- GRCh38:
- Chr11:68906094
| IGHMBP2 | E39fs | Autosomal dominant distal hereditary motor neuropathy | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr11:68673570
- GRCh38:
- Chr11:68906102
| IGHMBP2 | Q41fs | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Pathogenic
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673571
- GRCh38:
- Chr11:68906103
| IGHMBP2 | Q41* | Autosomal recessive distal spinal muscular atrophy 1 | Pathogenic
(Oct 17, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr11:68673577
- GRCh38:
- Chr11:68906109
| IGHMBP2 | R43* | Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S,
IGHMBP2-related disorders, not provided | Pathogenic
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673578
- GRCh38:
- Chr11:68906110
| IGHMBP2 | R43Q | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673579
- GRCh38:
- Chr11:68906111
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673582
- GRCh38:
- Chr11:68906114
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease,
not specified, not provided | Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673583
- GRCh38:
- Chr11:68906115
| IGHMBP2 | V45fs | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Pathogenic
(Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673586
- GRCh38:
- Chr11:68906118
| IGHMBP2 | C46G | not provided | Uncertain significance
(Jun 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673588
- GRCh38:
- Chr11:68906120
| IGHMBP2 | | Inborn genetic diseases, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S,
not provided, Autosomal recessive distal spinal muscular atrophy 1, Peripheral neuropathy
| Pathogenic
(Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673601
- GRCh38:
- Chr11:68906133
| IGHMBP2 | Q51E | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease,
not provided, Autosomal recessive distal spinal muscular atrophy 1, not specified
| Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673604
- GRCh38:
- Chr11:68906136
| IGHMBP2 | V52I | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673604
- GRCh38:
- Chr11:68906136
| IGHMBP2 | V52L | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673608
- GRCh38:
- Chr11:68906140
| IGHMBP2 | S53F | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Inborn genetic diseases
| Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673612
- GRCh38:
- Chr11:68906144
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673613
- GRCh38:
- Chr11:68906145
| IGHMBP2 | Q55* | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673615
- GRCh38:
- Chr11:68906147
| IGHMBP2 | Q55H | not provided, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1,
Inborn genetic diseases, Charcot-Marie-Tooth disease, not specified
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:68673616
- GRCh38:
- Chr11:68906148
| IGHMBP2 | R56S | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673616
- GRCh38:
- Chr11:68906148
| IGHMBP2 | R56C | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673617
- GRCh38:
- Chr11:68906149
| IGHMBP2 | R56H | not provided, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
| Uncertain significance
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673618
- GRCh38:
- Chr11:68906150
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Likely benign
(Sep 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673623
- GRCh38:
- Chr11:68906155
| IGHMBP2 | G58A | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673625
- GRCh38:
- Chr11:68906157
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673627
- GRCh38:
- Chr11:68906159
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673630
- GRCh38:
- Chr11:68906162
| IGHMBP2 | | not provided, Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1,
Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease, not specified
| Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673631
- GRCh38:
- Chr11:68906163
| IGHMBP2 | G61R | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
| Conflicting interpretations of pathogenicity
(Jun 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:68673631
- GRCh38:
- Chr11:68906163
| IGHMBP2 | G61R | Progressive muscle weakness, Lower limb muscle weakness, Hammertoe,
Difficulty walking, Inability to walk, Autosomal recessive distal spinal muscular atrophy 1,
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Conflicting interpretations of pathogenicity
(Jun 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:68673634
- GRCh38:
- Chr11:68906166
| IGHMBP2 | R62W | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, not provided
| Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673634
- GRCh38:
- Chr11:68906166
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, not provided
| Likely benign
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673634
- GRCh38:
- Chr11:68906166
| IGHMBP2 | R62G | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases,
not provided | Uncertain significance
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673635
- GRCh38:
- Chr11:68906167
| IGHMBP2 | R62Q | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673639
- GRCh38:
- Chr11:68906171
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673640
- GRCh38:
- Chr11:68906172
| IGHMBP2 | L64V | Inborn genetic diseases | Uncertain significance
(Jan 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673641
- GRCh38:
- Chr11:68906173
| IGHMBP2 | L64P | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673643
- GRCh38:
- Chr11:68906175
| IGHMBP2 | V65I | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673643
- GRCh38:
- Chr11:68906175
| IGHMBP2 | V65F | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
| Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673650
- GRCh38:
- Chr11:68906182
| IGHMBP2 | F67S | Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Jan 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673654
- GRCh38:
- Chr11:68906186
| IGHMBP2 | E68D | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673657
- GRCh38:
- Chr11:68906189
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673658
- GRCh38:
- Chr11:68906190
| IGHMBP2 | R70G | not provided | Uncertain significance
(May 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673661
- GRCh38:
- Chr11:68906193
| IGHMBP2 | R71* | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Pathogenic
(Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673661
- GRCh38:
- Chr11:68906193
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673662
- GRCh38:
- Chr11:68906194
| IGHMBP2 | R71L | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease
| Uncertain significance
(Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673666
- GRCh38:
- Chr11:68906198
| IGHMBP2 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673666
- GRCh38:
- Chr11:68906198
| IGHMBP2 | Y72* | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 | Pathogenic
(Dec 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:68673667
- GRCh38:
- Chr11:68906199
| IGHMBP2 | G73R | not provided, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S,
Autosomal recessive distal spinal muscular atrophy 1 | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673672
- GRCh38:
- Chr11:68906204
| IGHMBP2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1,
not specified | Likely benign
(Jun 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673672
- GRCh38:
- Chr11:68906204
| IGHMBP2 | | Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jul 11, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:68673673
- GRCh38:
- Chr11:68906205
| IGHMBP2 | A75T | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease,
not specified, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68673674
- GRCh38:
- Chr11:68906206
| IGHMBP2 | A75V | Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S | Uncertain significance
(Jan 26, 2022) | criteria provided, single submitter |