Table 2.

Variants present in patients.

Patient	FTD	Gene	Codon	Reference	Associated disease (HGMD)	ACMG	Notes on pathogenicity	AF_GNOMEX_NFE
	(rtv/sv)
P01	rtv	MAPT	N621N (N286N)*	NM_001123066.3:c.1863C > T	nr	Likely benign	Splicing enhancer alteration	2.38E-05
		PSEN1	M93V	NM_000021.3:c.277A > G	nr	Likely pathogenic	Within a mutational hot spot	8.95E-06
P05	sv	MAPT	P636L (P301L)*	NM_001123066.3:c.1907C > T	FTD	Pathogenic	Several reports on genetics, function, neuropathology, animal models	1.32E-05
P06	sv	OPTN	Q314L	NM_021980.4:c.941A > T	ALS	VUS-LP	15 pathogenicity scores$	2.78E-04
		DCTN1	R795H	NM_004082.4:c.2384G > A	CMT	VUS-LP	18 pathogenicity scores$	4.48E-05
P10	rtv	CHCHD10	P80L	NM_213720.1:c.239C > T	ALS	VUS	9 pathogenicity scores$	2.31E-04
P11	sv	PRKN	T240M	NM_004562.2:c.719C > T	PD	Pathogenic	Functional studies	2.51E-04
P12	sv	MAPT	Q671H (Q336H)*	NM_001123066.3:c.2013G > T	FTD	VUS-LP	Reports on genetics, function, neuropathology	0
P20	sv	SQSTM1	E280/del	NM_003900.4:c.838_840delGAG	FTD	VUS-LP	Susceptibility factor	1.79E-05
P21	sv	VCP	G376E	NM_007126.3:c.1127G > A	nr	VUS-LP	New, absent in population databases, 19 pathogenicity scores$	0
		TBK1	I207T	NM_013254.3:c.620 T > C	ALS	VUS	10 pathogenicity scores$	1.08E-04
P23	sv	SQSTM1	P387L	NM_003900.4:c.1160C > T	FTD, ALS, PBD	VUS-LP	Reports on genetics	5.97E-04

FTD = Frontotemporal dementia; rtv = right temporal variant; sv = semantic variant;

^*NM_005910; HGMD = Human Gene Mutation Database; nr = not reported; ALS = Amyotrophic lateral sclerosis; CMT = - Charcot–Marie-Tooth; PD = Parkinson’s disease; PDB =. Paget disease of bone; ACMG = American College of Medical Genetics; VUS = variant of unknown significance; VUS-LP = VUS near likely pathogenic.

^$https://varsome.com; AF_GNOMEX_NFE = Allele frequency from Genome Aggregation Database - Exome - Non Finnish Europeans.