C1865872[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30935	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B, TTC21B-AS1 (P209L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 1000241	NM_014425.5(INVS):c.2002G>A (p.Gly668Arg)	INVS (G342R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1040451	NM_014425.5(INVS):c.2263G>A (p.Glu755Lys)	INVS (E429K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 2690626	NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)	INVS (Q465* +2 more)	Single nucleotide variant (nonsense +1 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 857076	NM_014425.5(INVS):c.2764G>C (p.Val922Leu)	INVS (V596L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +2 more	GUncertain significance
Select item 2432859	NM_014425.5(INVS):c.2935G>A (p.Val979Ile)	INVS (V653I +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 531624	NM_014425.5(INVS):c.3182dup (p.Asn1061fs)	INVS (N1061fs +2 more)	Duplication (frameshift variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar