C1846979[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595271	NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)	NPHP4 (D1367N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 297793	NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 500646	NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu)	NPHP4 (P1204L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1030411	NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs)	NPHP4 (L1164fs +2 more)	Indel (frameshift variant +1 more)	Senior-Loken syndrome 4	GLikely pathogenic
Select item 501425	NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	NPHP4 (T1122P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 195608	NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)	NPHP4 (E989K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity

ClinVar