ClinVar for MedGen (Select 722059) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692410	NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg)	TRPV6 (G657R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2692409	NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter)	TRPV6 (W85*)	Single nucleotide variant (nonsense)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 2572618	NM_018646.6(TRPV6):c.715_724del (p.Val239fs)	TRPV6 (V239fs)	Deletion (frameshift variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 2437349	NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn)	TRPV6 (D324N)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GUncertain significance
Select item 2384630	NM_018646.6(TRPV6):c.614A>G (p.His205Arg)	TRPV6 (H205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028604	NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg)	TRPV6 (T238R)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GUncertain significance
Select item 1028603	NM_018646.6(TRPV6):c.524C>T (p.Ala175Val)	TRPV6 (A175V)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GUncertain significance
Select item 992367	NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn)	TRPV6 (D582N)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GUncertain significance
Select item 932914	NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys)	TRPV6 (Y549C)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 768209	NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 692131	NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg)	TRPV6 (G428R)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 692130	NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr)	TRPV6 (C212Y)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 590770	NM_018646.6(TRPV6):c.607+5G>A	TRPV6	Single nucleotide variant (intron variant)	Hyperparathyroidism, transient neonatal	GPathogenic
Select item 590769	NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer)	TRPV6	Deletion (frameshift variant)	Hyperparathyroidism, transient neonatal	GPathogenic
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 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 590765	NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs)	TRPV6 (R179fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic