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

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: 43

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)	rs138592977	0.00006
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)	rs370134870	0.00002
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)	rs267607564	0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	rs150840924	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.1411C>T (p.Arg471Cys)	rs28928902	0.00001
NM_170707.4(LMNA):c.1698+1G>A	rs1553266337	0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	rs794728591	0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His)	rs780066296	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
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	rs1131691263
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)	rs1651580090
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)	rs60446065
NM_170707.4(LMNA):c.1436del (p.Leu479fs)	rs1553266024
NM_170707.4(LMNA):c.1489-2A>G	rs879254081
NM_170707.4(LMNA):c.1510del (p.Ala504fs)	rs1572366216
NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	rs794728596
NM_170707.4(LMNA):c.1606del (p.Glu536fs)	rs1651736894
NM_170707.4(LMNA):c.1609-1G>A	rs111569862
NM_170707.4(LMNA):c.1609-3C>G	rs267607581
NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs)	rs1064793882
NM_170707.4(LMNA):c.1698+1G>C	rs1553266337
NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)	rs794728601
NM_170707.4(LMNA):c.1819del (p.Val607fs)	rs1064796394
NM_170707.4(LMNA):c.224C>T (p.Ser75Phe)	rs879253975
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)	rs794728586
NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	rs1131691980
NM_170707.4(LMNA):c.329del (p.Arg110fs)	rs794728603
NM_170707.4(LMNA):c.339dup (p.Lys114Ter)	rs794728604
NM_170707.4(LMNA):c.344A>T (p.Glu115Val)	rs794728588
NM_170707.4(LMNA):c.356+3_356+6del	rs1649747081
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)	rs267607629
NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	rs1085307888
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	rs267607584
NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	rs58048078
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)	rs730882262
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)	rs2102886618
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly)	rs2102886914
NM_170707.4(LMNA):c.983_996delinsAGG (p.Ala328fs)	rs1572362631

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