Table 2.

Disease-causing heterozygous LMNA variants in subjects with FPLD2

Patients (n)	Variant cDNA level	Variant protein level	rs number	Clinvar prediction	References
2	c.74G>T	p.R25L	rs61578124	Uncertain significance	[16]
4	c.82C>T	p.R28W	rs59914820	Pathogenic	[9–9]
1	c.178C>G	p.R60G	rs28928900	Pathogenic	[20, 21]
8	c.184C>G	p.R62G	rs56793579	Pathogenic	[17, 20]
1	c.575A>T	p.D192V	rs57045855	Not provided	[20]
2	c.1045C>T	p.R349W	rs267607555	Pathogenic/likely pathogenic	[10, 22]
5	c.1255C>T	p.R419C	rs755686359	Uncertain significance	[23]
4	c.1394G>A	p.G465D	rs61282106	Pathogenic	[17]
5	c.1445G>T	p.R482L	rs11575937	Uncertain significance	[17]
92	c.1444C>T	p.R482W	rs57920071	Pathogenic	[17, 6–6]
96	c.1445G>A	p.R482Q	rs11575937	Pathogenic	[17, 6–6]
1	c.1458G>T	p.K486N	rs59981161	Pathogenic	[27]
1	c.1488+5G>C	NA	rs267607543	Pathogenic	[28]
2	c.1567G>C	p.G523R	rs201583907	Uncertain significance	[29]
2	c.1580G>C	p.R527P	rs57520892	Pathogenic	[30]
3	c.1583C>T	p.T528M	rs57629361	Uncertain significance	[31]
1	c.1622G>C	p.R541P	rs61444459	Pathogenic/likely pathogenic	[32]
1	c.1744C>T	p.R582C	rs918645468	Uncertain significance	[22, 33]
12	c.1745G>A	p.R582H	rs57830985	Pathogenic	[17, 26, 34]
10	c.1748C>T	p.S583L	rs59601651	Uncertain significance	[17]
1	c.1751G>A	p.R584H	rs56657623	Uncertain significance	[17, 22]
1	c.1930C>T	p.R644C	rs142000963	Benign; uncertain significance	[17, 35]

All the variants have been associated with lipodystrophy and published before.

Abbreviation: NA, not available.