Total 42 pathogenic variants reported for Hutchinson-Gilford syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) SNV
Germline
Chr1:156137203 Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Hutchinson-Gilford syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA017487 rs_57318642

10 SubmittersRCV000015576RCV000057324RCV000192011RCV001185736RCV001223656RCV002288492RCV003319169RCV003996098

NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) SNV
Germline
Chr1:156135268 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B1
Condition: not provided
Charcot-Marie-Tooth disease type 2
Autosomal recessive axonal hereditary motor and sensory neuropathy
Hutchinson-Gilford syndrome
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA018809 rs_59885338

20 SubmittersRCV000015590RCV000057479RCV000653885RCV000826146RCV000986429RCV001176301RCV002467495RCV003162253RCV003996100

NM_170707.4(LMNA):c.1824C>T (p.Gly608=) SNV
Germline
Chr1:156138613 Pathogenic Hutchinson-Gilford syndrome
Condition: not provided
Primary dilated cardiomyopathy
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
Restrictive dermopathy 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015291 rs_58596362

11 SubmittersRCV000015593RCV000057364RCV000150957RCV000806737RCV001847608

NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) SNV
Germline
Chr1:156138611 Pathogenic Hutchinson-Gilford syndrome
Condition: not provided
No Assertion Criteria Provided
CA015235 rs_61064130

3 SubmittersRCV000015595RCV000057363

NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) SNV
Germline
Chr1:156130693 Pathogenic Hutchinson-Gilford progeria syndrome, atypical
Condition: not provided
Hutchinson-Gilford syndrome
No Assertion Criteria Provided
CA018095 rs_60310264

3 SubmittersRCV000015596RCV000057406RCV000192009

NM_170707.4(LMNA):c.1821G>A (p.Val607=) SNV
Germline
Chr1:156138610 Pathogenic Hutchinson-Gilford syndrome
Condition: not provided
No Assertion Criteria Provided
CA015226 rs_59886214

3 SubmittersRCV000015611RCV000057362

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV
Germline
Chr16:13947991 Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
not specified
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Hutchinson-Gilford syndrome
Breast carcinoma
Carcinoma of pancreas
Fanconi anemia complementation group Q
Xeroderma pigmentosum
ERCC4-related disorder
Criteria Provided
Conflicting Classifications
CA126686 rs_121913049

23 SubmittersRCV000018048RCV000120808RCV000467658RCV000415873RCV000768209RCV000766208RCV001034542RCV001262417RCV001391196RCV001787804RCV002257360RCV003924841

NM_170707.4(LMNA):c.1566C>T (p.Cys522=) SNV
Germline
Chr1:156137190 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Limb-girdle muscular dystrophy, recessive
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Lethal tight skin contracture syndrome
Cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA017459 rs_149339264

17 SubmittersRCV000041322RCV000242680RCV000233927RCV000262946RCV000285909RCV000289458RCV000320484RCV000337260RCV000340752RCV000377490RCV000380292RCV000399953RCV000777760RCV001098994RCV001093764RCV001172631RCV001310873

NM_170707.4(LMNA):c.357C>T (p.Arg119=) SNV
Germline
Chr1:156130617 Conflicting classifications of pathogenicity not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease
LMNA-related disorder
Criteria Provided
Conflicting Classifications
CA014926 rs_41313880

25 SubmittersRCV000041345RCV000057395RCV000148598RCV000249770RCV000211467RCV001101881RCV000768710RCV001081311RCV001096444RCV001096445RCV001096446RCV001096447RCV001101878RCV001101879RCV001096443RCV001101880RCV001173420RCV004528231

NM_170707.4(LMNA):c.1149G>A (p.Glu383=) SNV
Germline
Chr1:156136113 Conflicting classifications of pathogenicity Condition: not provided
Dilated Cardiomyopathy, Dominant
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Limb-girdle muscular dystrophy, recessive
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
not specified
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Criteria Provided
Conflicting Classifications
CA016698 rs_267607603

9 SubmittersRCV000057240RCV000259414RCV000263024RCV000377531RCV000384768RCV000293812RCV000298159RCV000327855RCV000259097RCV000289312RCV000324542RCV000355460RCV000536971RCV000619516RCV000776145RCV001093854RCV001098597

NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) SNV
Germline
Chr1:156136359 Conflicting classifications of pathogenicity Condition: not provided
Primary dilated cardiomyopathy
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA014967 rs_150840924

11 SubmittersRCV000057265RCV000148606RCV000150953RCV000653929RCV001172619RCV001524022RCV002381364

NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) SNV
Germline
Chr1:156137207 Pathogenic/Likely pathogenic Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017504 rs_57629361

6 SubmittersRCV000057328RCV000201062RCV000986432RCV001045262

NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) SNV
Germline
Chr1:156137664 Pathogenic Condition: not provided
Hutchinson-Gilford syndrome
Criteria Provided
Single Submitter
CA017588 rs_267607547

3 SubmittersRCV000057340RCV000192012

NM_170707.4(LMNA):c.1622G>A (p.Arg541His) SNV
Germline
Chr1:156137667 Pathogenic/Likely pathogenic Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
LMNA-related disorder
Congenital muscular dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA017621 rs_61444459

14 SubmittersRCV000057344RCV000221013RCV000230467RCV000246865RCV001262710RCV001836636RCV003335086RCV004018989

NM_170707.4(LMNA):c.1968+1G>A SNV
Germline
Chr1:156138758 Pathogenic Hutchinson-Gilford syndrome
Condition: not provided
Restrictive dermopathy 2
No Assertion Criteria Provided
CA015209 rs_113436208

3 SubmittersRCV000015607RCV000057377RCV001847645

NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) SNV
Germline
Chr16:13948175 Conflicting classifications of pathogenicity not specified
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Hutchinson-Gilford syndrome
Inborn genetic diseases
Xeroderma pigmentosum
Condition: not provided
Criteria Provided
Conflicting Classifications
CA158876 rs_4986933

10 SubmittersRCV000120811RCV000476568RCV000989535RCV001034545RCV002515859RCV002257429RCV004704960

NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) SNV
Germline
Chr16:13935420 Conflicting classifications of pathogenicity not specified
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Hutchinson-Gilford syndrome
Xeroderma pigmentosum
Xeroderma pigmentosum, group F
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA158912 rs_146601373

9 SubmittersRCV000120823RCV000459235RCV001034544RCV002258800RCV001117661RCV004704961RCV002515862

NM_170707.4(LMNA):c.1968G>A (p.Gln656=) SNV
Germline
Chr1:156138757 Pathogenic Hutchinson-Gilford progeria syndrome, atypical
Hutchinson-Gilford syndrome
No Assertion Criteria Provided
CA347058 rs_797044487

2 SubmittersRCV000190822RCV000192015

NM_170707.4(LMNA):c.1968+5G>A SNV
Germline
Chr1:156138762 Pathogenic Hutchinson-Gilford syndrome
Hutchinson-Gilford progeria syndrome, atypical
Criteria Provided
Single Submitter
CA347068 rs_797044488

3 SubmittersRCV000192020RCV000190823

NM_170707.4(LMNA):c.1488+14C>T SNV
Germline
Chr1:156137042 Conflicting classifications of pathogenicity not specified
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype
LMNA-related disorder
Criteria Provided
Conflicting Classifications
CA017307 rs_377700689

11 SubmittersRCV000154749RCV001098892RCV001098893RCV001097151RCV001098889RCV001098891RCV001097148RCV001097149RCV001173408RCV001097150RCV001097152RCV001098890RCV001850119RCV001795278RCV003162630RCV004734724

NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV
Germline
Chr1:156137679 Conflicting classifications of pathogenicity not specified
Peripheral neuropathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Autosomal semi-dominant severe lipodystrophic laminopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1S
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Lipodystrophy
7 conditions
LMNA-related disorder
Criteria Provided
Conflicting Classifications
CA017649 rs_142191737

24 SubmittersRCV000150955RCV000449630RCV000505801RCV000468904RCV000771819RCV001101057RCV001101058RCV001101059RCV001101060RCV003993830RCV003998208RCV000621850RCV001101061RCV000491650RCV001100810RCV001101055RCV001101062RCV001248958RCV001781492RCV004532675

NM_170707.4(LMNA):c.1551G>A (p.Gln517=) SNV
Germline
Chr1:156137175 Conflicting classifications of pathogenicity not specified
Mandibuloacral dysplasia with type A lipodystrophy
Limb-girdle muscular dystrophy, recessive
Charcot-Marie-Tooth disease type 2
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA017421 rs_41314035

20 SubmittersRCV000223139RCV000259331RCV000274426RCV000231059RCV000306169RCV000331994RCV000309672RCV000373945RCV000392077RCV000363237RCV000392082RCV000589163RCV000620476RCV000771258RCV001093871RCV001100975RCV001172636RCV003996588

NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV
Germline
Chr1:156130658 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease type 2
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
Criteria Provided
Conflicting Classifications
CA018032 rs_60864230

11 SubmittersRCV000182356RCV000204542RCV001096449RCV001098187RCV001098189RCV001098190RCV001098191RCV001096448RCV001098186RCV001098184RCV001098188RCV001098185RCV001191911RCV002372114RCV003996714RCV004734805

NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV
Germline
Chr1:156130731 Conflicting classifications of pathogenicity not specified
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA018129 rs_150645079

15 SubmittersRCV000182358RCV000778038RCV000727266RCV001081191RCV001099966RCV001099968RCV001101972RCV001099967RCV001099969RCV001101973RCV001099963RCV001099964RCV001099965RCV001101971RCV002336452

NM_170707.4(LMNA):c.936+2T>C SNV
Germline
Chr1:156135314 Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA275974 rs_797045011

4 SubmittersRCV000986430RCV001798660RCV003743622RCV003165426

NM_170707.4(LMNA):c.937-8C>A SNV
Germline
Chr1:156135893 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA054885 rs_751707982

6 SubmittersRCV000207998RCV000545586RCV000777940RCV001096750RCV001096752RCV001098488RCV001096749RCV001096751RCV001098487RCV001096746RCV001096747RCV001096748RCV001098486RCV001697242

NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV
Germline
Chr1:156137027 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions
Hutchinson-Gilford syndrome
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
11 conditions
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA050321 rs_200466188

15 SubmittersRCV000235878RCV000653862RCV000681642RCV001100889RCV001100614RCV001100615RCV001100616RCV001100617RCV002494678RCV001100619RCV001098789RCV001100613RCV001100618RCV001100620RCV001180056RCV002392729RCV003998908

NM_170707.4(LMNA):c.936+12C>T SNV
Germline
Chr1:156135324 Conflicting classifications of pathogenicity Dilated Cardiomyopathy, Dominant
Familial partial lipodystrophy
Hutchinson-Gilford syndrome
Limb-girdle muscular dystrophy, recessive
Emery-Dreifuss muscular dystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia
Congenital muscular dystrophy due to LMNA mutation
not specified
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA054697 rs_199881992

5 SubmittersRCV000262176RCV000274234RCV000277642RCV000313011RCV000307693RCV000316315RCV000342630RCV000370046RCV000373251RCV000408245RCV000611471RCV001172628RCV003165785

NM_170707.4(LMNA):c.1488G>A (p.Thr496=) SNV
Germline
Chr1:156137028 Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2
Limb-girdle muscular dystrophy, recessive
not specified
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Cardiovascular phenotype
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA050383 rs_375516745

8 SubmittersRCV000272434RCV000279873RCV000283389RCV000295329RCV000329882RCV000337310RCV000341138RCV000364565RCV000387328RCV000424743RCV000399235RCV000769730RCV000733840RCV001093869RCV001097147RCV002392823RCV003995796

NM_170707.4(LMNA):c.514-11C>T SNV
Germline
Chr1:156134392 Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Limb-girdle muscular dystrophy, recessive
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10608308 rs_886045365

4 SubmittersRCV000259634RCV000271579RCV000277232RCV000312526RCV000319234RCV000338954RCV000366122RCV000372986RCV000367228RCV000373949RCV001096563RCV000828218RCV002061154RCV004639205

NM_170707.4(LMNA):c.1698+57G>A SNV
Germline
Chr1:156137800 Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Limb-girdle muscular dystrophy, recessive
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Criteria Provided
Conflicting Classifications
CA051003 rs_557334569

1 SubmittersRCV000263913RCV000267234RCV000278097RCV000293451RCV000318957RCV000322274RCV000333140RCV000358640RCV000361986RCV000373664RCV001099085

NM_170707.4(LMNA):c.294G>A (p.Glu98=) SNV
Germline
Chr1:156115212 Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy
Limb-girdle muscular dystrophy, recessive
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA10608333 rs_886045363

4 SubmittersRCV000268358RCV000268830RCV000297999RCV000303772RCV000304893RCV000338865RCV000358456RCV000364211RCV000407235RCV000404276RCV001101770RCV001718593RCV003231435

NM_170707.4(LMNA):c.1324G>A (p.Val442Met) SNV
Germline
Chr1:156136380 Conflicting classifications of pathogenicity Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA049885 rs_368542816

9 SubmittersRCV000621062RCV000808964RCV001096942RCV001096944RCV001096945RCV001096946RCV001096939RCV001096940RCV001102354RCV001102355RCV001096941RCV001096943RCV001190252RCV001544605RCV004002668

NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) SNV
Germline
Chr1:156136931 Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome
Criteria Provided
Conflicting Classifications
rs_1281896947

2 SubmittersRCV000680035RCV000986431

NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV
Germline
Chr1:156135991 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Congenital muscular dystrophy due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
rs_749784223

11 SubmittersRCV000812997RCV001172615RCV001096835RCV001096842RCV001096836RCV001096841RCV001098596RCV001096837RCV001096838RCV001096839RCV001096840RCV001102252RCV001189952RCV001823746RCV001593004RCV002381813RCV002507420RCV004001748

NM_170707.4(LMNA):c.1227A>G (p.Thr409=) SNV
Germline
Chr1:156136283 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Hutchinson-Gilford syndrome
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
rs_762130433

9 SubmittersRCV000865471RCV001100368RCV001100370RCV001102349RCV001102351RCV001100367RCV001100369RCV001102348RCV001102350RCV001102352RCV001102353RCV001191849RCV001700317RCV001726349RCV003307601RCV004002962

NM_005572.3(LMNA):c.-223C>T SNV
Germline
Chr1:156114696 Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_188625872

2 SubmittersRCV001097799RCV001097800RCV001099593RCV001099598RCV001099600RCV001099599RCV001099594RCV001099595RCV001099596RCV001099597RCV001564412

NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) SNV
Germline
Chr1:156115105 Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
not specified
11 conditions
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_899373360

5 SubmittersRCV001330500RCV001367762RCV001823769RCV002499650RCV003365335

NM_170707.4(LMNA):c.164A>G (p.Glu55Gly) SNV
Unknown
Chr1:156115082 Likely pathogenic Hutchinson-Gilford syndrome Criteria Provided
Single Submitter
rs_2102817930

1 SubmittersRCV001754577

NM_170707.4(LMNA):c.784G>A (p.Glu262Lys) SNV
Germline
Chr1:156134949 Likely pathogenic Hutchinson-Gilford syndrome Criteria Provided
Single Submitter
rs_397517909

1 SubmittersRCV002271733

NM_170707.4(LMNA):c.331G>A (p.Glu111Lys) SNV
Germline
Chr1:156115249 Likely pathogenic Hutchinson-Gilford syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003314200