List of variants in gene LMNA reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)	rs769977710	0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His)	rs757041809	0.00002
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)	rs267607576	0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)	rs1263919141	0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)	rs62636506	0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	rs267607598	0.00001
NM_170707.4(LMNA):c.1698+1G>A	rs1553266337	0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	rs56657623	0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)	rs769561386	0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)	rs899373360	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)	rs879253898	0.00001
NC_000001.10:g.(?_156100388)_(156100584_?)dup
NC_000001.10:g.(?_156100388)_(156107554_?)dup
NC_000001.10:g.(?_156104586)_(156108907_?)del
NC_000001.10:g.(?_156105681)_(156107037_?)del
NC_000001.11:g.(?_156134383)_(156134548_?)del
NC_000001.11:g.(?_156134393)_(156134538_?)del
NC_000001.11:g.(?_156137634)_(156139126_?)del
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)	rs1237093879
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)	rs267607548
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)	rs267607567
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln)	rs267607634
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)	rs1553265733
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)	rs2102888292
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	rs1060502214
NM_170707.4(LMNA):c.112C>G (p.Leu38Val)	rs2102817550
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)	rs2102817550
NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp)	rs267607603
NM_170707.4(LMNA):c.1157+1G>A	rs267607590
NM_170707.4(LMNA):c.1157+1G>T	rs267607590
NM_170707.4(LMNA):c.1158-1G>T	rs1651598289
NM_170707.4(LMNA):c.115A>C (p.Asn39His)	rs267607627
NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)	rs57983345
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)	rs267607620
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)	rs2102817644
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)	rs58541611
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)	rs1649714371
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr)	rs267607599
NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys)	rs61235244
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)	rs267607615
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	rs61282106
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg)	rs267607639
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)	rs28928902
NM_170707.4(LMNA):c.143G>A (p.Arg48His)
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	rs1572332235
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg)	rs1558132909
NM_170707.4(LMNA):c.1488+1G>A	rs267607640
NM_170707.4(LMNA):c.1488+1G>T	rs267607640
NM_170707.4(LMNA):c.1489-2A>G	rs879254081
NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	rs780302064
NM_170707.4(LMNA):c.1609-1G>A	rs111569862
NM_170707.4(LMNA):c.1609-2A>G
NM_170707.4(LMNA):c.1698+1G>C	rs1553266337
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)	rs57830985
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)	rs28928900
NM_170707.4(LMNA):c.179G>A (p.Arg60His)
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	rs56793579
NM_170707.4(LMNA):c.185G>T (p.Arg62Leu)	rs1649721643
NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)
NM_170707.4(LMNA):c.194A>T (p.Glu65Val)
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)	rs59270054
NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)
NM_170707.4(LMNA):c.254T>A (p.Leu85His)	rs28933090
NM_170707.4(LMNA):c.265C>G (p.Arg89Gly)	rs267607559
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)	rs59040894
NM_170707.4(LMNA):c.274C>G (p.Leu92Val)	rs267607560
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)	rs1651348222
NM_170707.4(LMNA):c.593A>C (p.Gln198Pro)	rs2102878915
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	rs28933092
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	rs267607629
NM_170707.4(LMNA):c.639+1G>A	rs869125101
NM_170707.4(LMNA):c.639+1G>T	rs869125101
NM_170707.4(LMNA):c.640-2A>G	rs1572359505
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu)	rs199474724
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	rs267607609
NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)
NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)	rs121912496
NM_170707.4(LMNA):c.811-1G>A	rs1365042239
NM_170707.4(LMNA):c.811-2A>G	rs2102883099
NM_170707.4(LMNA):c.857_859del (p.Gly286del)	rs59564495
NM_170707.4(LMNA):c.869A>T (p.Glu290Val)	rs1651453317
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	rs267607591
NM_170707.4(LMNA):c.936+2T>C	rs797045011
NM_170707.4(LMNA):c.937-1G>A	rs1553265606
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)	rs59301204

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