C1300287[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692132	NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp)	TRPV6 (R483W)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 590768	NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)	TRPV6 (G451E)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 692131	NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg)	TRPV6 (G428R)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 590767	NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)	TRPV6 (R425Q)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 590766	NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)	TRPV6 (I223T)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal +1 more	GConflicting classifications of pathogenicity
Select item 692130	NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr)	TRPV6 (C212Y)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic

ClinVar