RGD:13625715 Rat Genome Database

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Variant: RGD:13625715 -  Homo sapiens

RGD ID: 13625715
RS ID: rs1553262000
ClinVar ID: CV515157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 156,084,995
GRCh38 1 156,115,204
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001269554.1:p.Ala96Ser
LRG_254:g.37632G>T
NG_008692.2:g.37632G>T
NC_000001.11:g.156115204G>T
More... 		03/16/2023 missense variant uncertain significance Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Cardiogenital syndrome; Cardiomyopathies; CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE; CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE; Cardiomyopathy, Familial Idiopathic; Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; Charcot-Marie-Tooth Neuropathy Type 2B1; Charcot-Marie-Tooth, Type 2; CMT 2B1; Congenital muscular dystrophy due to LMNA mutation; Congenital muscular dystrophy, LMNA-related; Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; CRANIOMANDIBULAR DERMATODYSOSTOSIS; Dilated cardiomyopathy 1A; Dilated cardiomyopathy with conduction defect; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Familial cardiomyopathy, hypogonadism, and collagenoma; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Familial partial lipodystrophy 2; Familial partial lipodystrophy, Dunnigan type; Genital anomaly with cardiomyopathy; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Idiopathic dilated cardiomyopathy; Lamin A-related Congenital Muscular Dystrophy; Limb-girdle muscular dystrophy, type 1B; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; Lipodystrophy, type A, associated with mandibuloacral dysplasia; LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal; Malouf syndrome; Mandibuloacral dysplasia with type A lipodystrophy; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; Muscular dystrophy, proximal, type 1B; Najjar syndrome; none provided; Partial lipodystrophy, Dunnigan; Progerin-producing progeroid laminopathy; Restrictive dermopathy 2; RESTRICTIVE DERMOPATHY 2, LETHAL; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001406986
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406995
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406990
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407002
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406999
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407001
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407000
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406994
Location:5UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407003
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN
LVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:LMNA
Accession:NM_001406984
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHVSGSRR*

Gene Symbol:LMNA
Accession:NM_001406991
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN
LVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:LMNA
Accession:NM_005572
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHVSGSRR*

Gene Symbol:LMNA
Accession:NM_001282625
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHVSGSRR*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQGPWELTKP
SHPPSAGSQGGEASRPGGLTGP*

Gene Symbol:LMNA
Accession:NM_001406983
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN
LVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:LMNA
Accession:NM_001406985
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN
LVTRSYLLGNSSPRTQSPQNCSIIQEMGMRWEVEEGRRKVSLSCLP*

Gene Symbol:LMNA
Accession:NM_001282626
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQSPQNCSIM*

Gene Symbol:LMNA
Accession:NM_170708
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEGSHCSSSGDPAEYNLRSRTVLCGT
CGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:LMNA
Accession:NM_001406992
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA
YEAELGDARKTLDSVSKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL
RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG
RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD
LLHHHHVSGSRR*

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653853 CLINVAR
  RCV001176892 CLINVAR
  RCV002477453 CLINVAR
  RCV003129973 CLINVAR
dbSNP (RS) rs1553262000 CLINVAR
MedGen C0270914 CLINVAR
  C0796031 CLINVAR
  C0878544 CLINVAR
  C3661900 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 115200 CLINVAR
  150330 CLINVAR
  151660 CLINVAR
  176670 CLINVAR
  181350 CLINVAR
  212112 CLINVAR
  248370 CLINVAR
  605588 CLINVAR
  610140 CLINVAR
  613205 CLINVAR
  616516 CLINVAR
  619793 CLINVAR
SNOMED CT 238870004 CLINVAR
  85898001 CLINVAR