. 2019 Jan 17;30(2):201–215. doi: 10.1681/ASN.2018060575

Table 1.

Continued

Family^a	A Priori Clinical Diagnosis	Post-WES Diagnosis	Extrarenal Manifestations	Family History	Homozygosity (>75 MB)	Gene	Zygosity	c.Change p.Change Segregation (m, p)^b	Conservation	PP2^c SIFT^d/MutationTaster^e	Allele Frequency in gnomAD^f	HGMD^g (ACMG^h)	PMID (if previously reported)
Renal cystic ciliopathies
A4037^l	NPHP	NPHP	Retinal degeneration, pseudotumor cerebri, macrocephaly, XXX karyotype	No	No	CEP83	Hom	c.2007delA	N/A	N/A	None	Variant (P)	#24882706
A4037^l	NPHP	NPHP		No	No	CEP83	Hom	p.E669Dfs*14 (het, het)	N/A	N/A	None	Variant (P)	#24882706
B659	Senior Loken syndrome	Senior Loken syndrome	Retinal degeneration	Yes (sister)	No	CEP83	Hom	c.2007delA	N/A	N/A	None	Variant (P)	#24882706
B659	Senior Loken syndrome	Senior Loken syndrome	Retinal degeneration	Yes (sister)	No	CEP83	Hom	p.E669Dfs*14 (NA)	N/A	N/A	None	Variant (P)	#24882706
B06	Short-rib thoracic dysplasia	Short-rib thoracic dysplasia	Restrictive lung disease, cholestatic liver disease	No	No	DYNC2H1	Cpd het	c.9638A>G	D.m.	1.00 Del/DC	0/1/31,366	Gene (LP)	Novel
								p.Y3213C (WT; het)	D.m.	1.00 Del/DC	0/1/31,366	Gene (LP)	Novel
								c.12431C>G	G.g.	0.97 Del/DC	0/3/279,946	Gene (LP)	Novel
								p.P4144R (het; WT)	G.g.	0.97 Del/DC	0/3/279,946	Gene (LP)	Novel
B1233	NPHP	RCAD	None	No	No	HNF1B	Het	c.857T>C	C.i.	1.00 Del/—	None	Gene (LP)	Novel
B1233	NPHP	RCAD	None	No	No	HNF1B	Het	p.L286P (NA)	C.i.	1.00 Del/—	None	Gene (LP)	Novel
B367	NPHP	NPHP	None	No	No	NPHP1	Hom	Homozygous deletion (NA)				Variant (P)	#9326933
B950	NPHP	NPHP	Oculomotor apraxia	No	No	NPHP1	Hom	Homozygous deletion (NA)				Variant (P)	#9326933
B375	ARPKD	ARPKD	Increased heterogeneity of liver, splenomegaly	No	No	PKHD1	Cpd het	c.10452dupT	N/A	N/A	0/1/250,588	Variant (P)	#15108281
								p.L3485Sfs*18 (NA)^k	N/A	N/A	0/1/250,588	Variant (P)	#15108281
								c.11452G>T	X.t.	0.6 Del/DC	0/1/251,398	Gene (LP)	Novel
								p.V3818F (NA)^k	X.t.	0.6 Del/DC	0/1/251,398	Gene (LP)	Novel
Nephrolithiasis/nephrocalcinosis
B949	PH1	PH1	None	No	No	AGXT	Cpd het	c.33dupC	N/A	N/A	0/43/270,822	Variant (P)	#10394939
								p.K12Qfs*156 (NA)^k	N/A	N/A	0/43/270,822
								c.508G>A	D.m.	1.00 Del/DC	1/136/252,084	Variant (P)	#23229545
								p.G170R (NA)^k	D.m.	1.00 Del/DC	1/136/252,084
B2404	PH1	PH1	Hypothyroidism	No	No	AGXT	Hom	c.245G>A	S.c.	1.00 Del/DC	0/5/251,218	Variant(P)	#1349575
B2404	PH1	PH1	Hypothyroidism	No	No	AGXT	Hom	p.G82E (het, het)	S.c.	1.00 Del/DC	0/5/251,218	Variant(P)	#1349575
B942	PH1	PH1	None	No	No	AGXT	Hom	c.473C>T	D.r.	0.99 Del/DC	0/1/226,530	Variant (P)	#15849466
B942	PH1	PH1	None	No	No	AGXT	Hom	p.S158L (NA)	D.r.	0.99 Del/DC	0/1/226,530	Variant (P)	#15849466