Table 1

Novel pathogenic variants and phenotypes of individuals diagnosed through exome sequencing

Patient ID	Gene(Chr:position)c.DNA change p.protein change	Coding effect	CADD score	CDPred score	GnomAD freq.	GnomAD Allele count / # of het/ # of hom	ClinPred Score	Age at diagnosis (y):Sex	Phenotype (MIM#)
S.18	FBXO38(5:147 785 932) NM_030793.4:c.843T>G p.His281Gln	Het.	23.3	0	0	0/0/0	1.00	18:M	Juvenile-onset upper limb distal weakness; a de novo variant. HMN2D (615575)
S.4	LAMA2 (6:129 636 905)NM_000426.3: c.3736-2A>T p.(?)	Hom.	34	−30	0.00001194	3/3/0	NA	69:F	Childhood-onset with milder phenotype, retained independent ambulation. LGMDR23 (618138)
F.3.1; F.3.2	LAMA2(6:129 204 451_129204 452)NM_000426.3:c.61_62delCA p.Gln21Glyfs*28	Het.	20.2	−30	0	0/0/0	NA	34:F; 24:F	Childhood-onset with milder phenotype, retained independent ambulation in sisters. LGMDR23 (618138)
S.13	MFN2 (1:12 052 717)NM_014874.3:c.281G>T p.Arg94Leu	Het.	31	−2	0	0/0/0	0.99	38:F	Childhood-onset with severe disease, loss of ambulation by age 30y. CMT2A (609260)
F.5.1; F.5.2	MFN2 (1:12 062 085) NM_014874.3:c.1085C>G p.Thr362Arg	Het.	24.3	−1	0	0/0/0	0.99	33:M;60:F	Adult-onset with milder, later onset disease in proband and his maternal aunt. CMT2A (609260)
S.7	MYH7(14:23 886 123) NM_000257.2:c.4598T>C p.Leu1533Pro	Het.	30	−9	0	0/0/0	0.99	65:M	Childhood-onset with foot drop at age 6 years. Loss of ambulation during his late 50s. A de novo variant. Laing distal myopathy (160500)
S.15	PNPLA6(19:7 615 957)NM_006702.4:c.2031G>T p.Glu677Asp; PNPLA6 (19:7 619 463)NM_006702.4:c.2374G>C p.Gly792Arg	Comp. het.	17.8;23.6	−3; −2	0.00000679;0.00006377	1/1/0;2/2/0	0.18;0.92	19:F	Juvenile-onset motor neuron disease with upper >lower limb distal weakness; absent spasticity.
S.14	SPTLC1(19:7 619 463) NM_006415.2:c.1019C>T p.Ser340Leu	Het.	23.6	−2	0.00001592	4/4/0	0.92	68:M	Late-onset hereditary motor sensory neuropathy with mixed sensory and motor symptoms.