Table 3.

Gene variants identified in the analysed patients with PCC or PGL. The genetic variants described for the first time associated with PPGL are highlighted in boldface.

Patient	Chromosome Position	Gene Variant a	dbSNP	ACMG Classification	Zygosity	Familiar Testing
P1	1:17359554	SDHB, c.286+1G>A [33]	rs786201063	P	Het	No
P2	7:75684277	MDH2, c.196G>A; p.(Ala66Thr) [34]	rs141539461	VUS	Het	No
P7	17:29497016	NF1, c.586+1G>A [35]	rs1555607126	P	Het	Brother (wt)
P11	17:29677208	NF1, c.7330_7331insA; p.(Thr2444Asnfs*4)	rs1064794278	P	Het	No
P23	17:29496980	NF1, c.555_556insTG; p.(Asp186Trpfs*6)	ND	LP	Het	Daughter (het)
P24	10:104590740	CYP17A1, c.1246C>T; p.(Arg416Cys) [36]	rs1178684770	LP	Hom	Mother, sister, niece (het); niece (wt)
P25	10:104590740	CYP17A1, c.1246C>T; p.(Arg416Cys) [36]	rs1178684770	LP	Hom	Mother, sister, niece (het); niece (wt)
P27	3:10191507	VHL, c.500G>A; p.(Arg167Gln) [37]	rs5030821	P	Het	Father, brother (het)
P32	3:10191606	VHL, c.599G>C; p.(Arg200Pro)	rs754016774	P	Het	Brother (het)
P39	10:43614996	RET, c.2410G>A; p.(Val804Met) [38]	rs79658334	P	Het	Son, sister (wt)
P40	10:43615592	RET, c.2671T>G; p.(Ser891Ala) [39,40]	rs75234356	P	Het	Mother (wt); brother, daughter (het)
P42	10:43622132	RET, c.3149G>A; p.(Arg1050Gln) [41]	rs200956659	VUS	Het	No
P50	11:111957684	SDHD, c.52+1G>A	rs1592777386	P	Het	Mother, sister, son, daughter (wt)
P51	1:17349143	SDHB, c.725G>A; p.(Arg242His) [37]	rs74315368	P	Het	No
P58	1:17350506	SDHB, c.595_604delinsGG; p.(Tyr199Glyfs*20)	rs1131691059	P	Het	Mother, aunt (het)
P59	1:17380442	SDHB, c.72+1G>A [42]	rs587782703	P	Het	No
	17:29654671	NF1, c.5423C>T; p.(Thr1808Met)	rs760649828	VUS	Het

Het, heterozygous; Hom, homozygous; LP, likely pathogenic; ND, not determined; P, pathogenic; VUS, variant of unknown significance; Wt, wild type. ^a Reference is indicated if a gene variant has been previously associated with a disease.