Total 44 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 SubmittersRCV000015576 RCV000057324 RCV000192011 RCV001185736 RCV001223656 RCV002288492 RCV003319169 RCV003996098
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 Hutchinson-Gilford syndrome Autosomal recessive axonal hereditary motor and sensory neuropathy Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018809	rs_59885338	17 SubmittersRCV000015590 RCV000057479 RCV000653885 RCV000986429 RCV000826146 RCV001176301 RCV002467495 RCV003162253 RCV003996100
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 SubmittersRCV000015593 RCV000057364 RCV000150957 RCV000806737 RCV001847608
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 SubmittersRCV000015595 RCV000057363
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 SubmittersRCV000015596 RCV000057406 RCV000192009
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 SubmittersRCV000015611 RCV000057362
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	SNV Germline	Chr16:13947991	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Condition: not provided Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F XFE progeroid syndrome Hutchinson-Gilford syndrome Breast carcinoma Carcinoma of pancreas Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q ERCC4-related disorder Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	23 SubmittersRCV000018048 RCV000120808 RCV000415873 RCV000467658 RCV000766208 RCV001034542 RCV001262417 RCV001391196 RCV000768209 RCV001787804 RCV003924841 RCV002257360
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 Limb-girdle muscular dystrophy, recessive Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA017459	rs_149339264	17 SubmittersRCV000041322 RCV000242680 RCV000233927 RCV000262946 RCV000285909 RCV000289458 RCV000337260 RCV000320484 RCV000340752 RCV000377490 RCV000399953 RCV000380292 RCV000777760 RCV001093764 RCV001098994 RCV001310873 RCV001172631
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 Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 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 Charcot-Marie-Tooth disease LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014926	rs_41313880	25 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001096443 RCV001101880 RCV001101881 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001173420 RCV004528231
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 not specified Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive 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 SubmittersRCV000057240 RCV000259414 RCV000263024 RCV000259097 RCV000289312 RCV000293812 RCV000298159 RCV000324542 RCV000327855 RCV000355460 RCV000377531 RCV000384768 RCV000536971 RCV000619516 RCV000776145 RCV001093854 RCV001098597
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	SNV Germline	Chr1:156136359	Conflicting classifications of pathogenicity	Condition: not provided Hutchinson-Gilford syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA014967	rs_150840924	11 SubmittersRCV000057265 RCV000150953 RCV000148606 RCV000653929 RCV001172619 RCV002381364 RCV001524022
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 Charcot-Marie-Tooth disease type 2 Hutchinson-Gilford syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017504	rs_57629361	6 SubmittersRCV000057328 RCV000201062 RCV001045262 RCV000986432
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 SubmittersRCV000057340 RCV000192012
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	SNV Germline	Chr1:156137667	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1A Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Hutchinson-Gilford syndrome Congenital muscular dystrophy LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017621	rs_61444459	13 SubmittersRCV000057344 RCV000246865 RCV001262710 RCV000221013 RCV000230467 RCV001836636 RCV004018989 RCV003335086
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 SubmittersRCV000015607 RCV000057377 RCV001847645
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	SNV Germline	Chr16:13948175	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Hutchinson-Gilford syndrome Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	9 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002257429 RCV002515859
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	SNV Germline	Chr16:13935420	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hutchinson-Gilford syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	8 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV001117661 RCV002258800 RCV002515862
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 SubmittersRCV000190822 RCV000192015
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 SubmittersRCV000192020 RCV000190823
NM_170707.4(LMNA):c.1488+14C>T	SNV Germline	Chr1:156137042	Conflicting classifications of pathogenicity	not specified 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 Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017307	rs_377700689	10 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630
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 Dilated cardiomyopathy 1S Cardiovascular phenotype Cardiomyopathy Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 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 Autosomal semi-dominant severe lipodystrophic laminopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017649	rs_142191737	23 SubmittersRCV000150955 RCV000449630 RCV000505801 RCV000468904 RCV000491650 RCV000621850 RCV000771819 RCV001101061 RCV001101057 RCV001101058 RCV001101059 RCV001101060 RCV001100810 RCV001101055 RCV001101062 RCV001248958 RCV001781492 RCV004532675 RCV003993830 RCV003998208
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	SNV Germline	Chr1:156137175	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Limb-girdle muscular dystrophy, recessive Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation 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 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000274426 RCV000309672 RCV000306169 RCV000331994 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001093871 RCV001100975 RCV001172636 RCV003996588
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 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 Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018032	rs_60864230	10 SubmittersRCV000182356 RCV000204542 RCV001098184 RCV001098185 RCV001096448 RCV001096449 RCV001098186 RCV001098188 RCV001098187 RCV001098189 RCV001098190 RCV001098191 RCV001191911 RCV002372114 RCV003996714
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 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 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018129	rs_150645079	15 SubmittersRCV000182358 RCV000778038 RCV000727266 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452
NM_170707.4(LMNA):c.936+2T>C	SNV Germline	Chr1:156135314	Conflicting classifications of pathogenicity	Hutchinson-Gilford syndrome Cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA275974	rs_797045011	4 SubmittersRCV000986430 RCV001798660 RCV003165426 RCV003743622
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 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096750 RCV001096752 RCV001098488 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001697242
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 Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Cardiomyopathy Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050321	rs_200466188	15 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001100889 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001098789 RCV001100613 RCV001100618 RCV001100619 RCV001100620 RCV001180056 RCV002392729 RCV002494678 RCV003998908
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	SNV Germline	Chr1:156115213	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Hutchinson-Gilford syndrome Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10607825	rs_886045364	5 SubmittersRCV000274541 RCV000281871 RCV000294652 RCV000301985 RCV000337024 RCV000335629 RCV000329877 RCV000342879 RCV000371803 RCV000389042 RCV000497577 RCV001096351 RCV003231436
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 Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive 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 SubmittersRCV000262176 RCV000274234 RCV000277642 RCV000307693 RCV000313011 RCV000316315 RCV000342630 RCV000370046 RCV000373251 RCV000408245 RCV000611471 RCV001172628 RCV003165785
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 Congenital muscular dystrophy due to LMNA mutation not specified Condition: not provided Cardiomyopathy 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 SubmittersRCV000272434 RCV000279873 RCV000283389 RCV000295329 RCV000329882 RCV000337310 RCV000341138 RCV000364565 RCV000387328 RCV000399235 RCV000424743 RCV000733840 RCV000769730 RCV001093869 RCV001097147 RCV002392823 RCV003995796
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 Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10608308	rs_886045365	3 SubmittersRCV000259634 RCV000271579 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000366122 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154
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 SubmittersRCV000263913 RCV000267234 RCV000278097 RCV000293451 RCV000318957 RCV000322274 RCV000333140 RCV000358640 RCV000361986 RCV000373664 RCV001099085
NM_170707.4(LMNA):c.294G>A (p.Glu98=)	SNV Germline	Chr1:156115212	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Limb-girdle muscular dystrophy, recessive Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10608333	rs_886045363	4 SubmittersRCV000268830 RCV000268358 RCV000297999 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV000407235 RCV001718593 RCV001101770 RCV003231435
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	SNV Germline	Chr1:156136380	Conflicting classifications of pathogenicity	Cardiovascular phenotype Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Lethal tight skin contracture syndrome Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049885	rs_368542816	9 SubmittersRCV000621062 RCV001096941 RCV001096943 RCV001096942 RCV001096944 RCV001096939 RCV001096940 RCV001102354 RCV001102355 RCV000808964 RCV001190252 RCV001096945 RCV001096946 RCV001544605 RCV004002668
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 SubmittersRCV000680035 RCV000986431
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	SNV Germline	Chr1:156136414	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Condition: not provided Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Hutchinson-Gilford syndrome Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications		rs_267607598	6 SubmittersRCV000690888 RCV001097051 RCV001097053 RCV001102456 RCV001097049 RCV001097054 RCV001102454 RCV001102455 RCV001786410 RCV001097050 RCV001097052 RCV001102457 RCV001183072 RCV003999552
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	SNV Germline	Chr1:156135991	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 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 Condition: not provided Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications		rs_749784223	10 SubmittersRCV000812997 RCV001096836 RCV001096841 RCV001096835 RCV001096842 RCV001098596 RCV001096837 RCV001096838 RCV001096839 RCV001096840 RCV001102252 RCV001189952 RCV001593004 RCV002381813 RCV002507420 RCV004001748 RCV001172615 RCV001823746
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 SubmittersRCV000865471 RCV001100368 RCV001100370 RCV001102349 RCV001102351 RCV001100367 RCV001100369 RCV001102348 RCV001102350 RCV001102352 RCV001102353 RCV001191849 RCV001700317 RCV001726349 RCV003307601 RCV004002962
NM_005572.3(LMNA):c.-223C>T	SNV Germline	Chr1:156114696	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant 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 SubmittersRCV001099593 RCV001099598 RCV001097799 RCV001097800 RCV001099600 RCV001099599 RCV001099594 RCV001099595 RCV001099596 RCV001099597 RCV001564412
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)	SNV Germline	Chr1:156115105	Conflicting classifications of pathogenicity	Hutchinson-Gilford syndrome not specified Charcot-Marie-Tooth disease type 2 11 conditions Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_899373360	5 SubmittersRCV001330500 RCV001823769 RCV001367762 RCV002499650 RCV003365335
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