"TRPV6-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052361	NM_018646.6(TRPV6):c.*5G>A	TRPV6	Single nucleotide variant (3 prime UTR variant)	TRPV6-related disorder	GBenign
Select item 2800936	NM_018646.6(TRPV6):c.2202T>C (p.Asn734=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 2786649	NM_018646.6(TRPV6):c.2162T>C (p.Met721Thr)	TRPV6 (M721T)	Single nucleotide variant (missense variant)	TRPV6-related disorder +1 more	GBenign
Select item 2786650	NM_018646.6(TRPV6):c.1998A>G (p.Gly666=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 3043515	NM_018646.6(TRPV6):c.1981C>T (p.Arg661Trp)	TRPV6 (R661W)	Single nucleotide variant (missense variant)	TRPV6-related disorder	GLikely benign
Select item 2798756	NM_018646.6(TRPV6):c.1923= (p.Thr641=)	TRPV6	Variation (no sequence alteration)	TRPV6-related disorder +1 more	GBenign
Select item 2855576	NM_018646.6(TRPV6):c.1920C>T (p.Thr640=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3043599	NM_018646.6(TRPV6):c.1815C>T (p.Ile605=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder	GLikely benign
Select item 730573	NM_018646.6(TRPV6):c.1764C>T (p.Asn588=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign/Likely benign
Select item 2799920	NM_018646.6(TRPV6):c.1512C>T (p.Asn504=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 2863320	NM_018646.6(TRPV6):c.1407-5C>T	TRPV6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2786651	NM_018646.6(TRPV6):c.1406+8T>C	TRPV6	Single nucleotide variant (intron variant)	TRPV6-related disorder +1 more	GBenign
Select item 2786652	NM_018646.6(TRPV6):c.1252A>G (p.Met418Val)	TRPV6 (M418V)	Single nucleotide variant (missense variant)	TRPV6-related disorder +1 more	GBenign
Select item 3041393	NM_018646.6(TRPV6):c.1248C>A (p.Ala416=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder	GLikely benign
Select item 2786654	NM_018646.6(TRPV6):c.1200G>A (p.Thr400=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 2716275	NM_018646.6(TRPV6):c.1110C>T (p.Cys370=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2863015	NM_018646.6(TRPV6):c.996G>A (p.Leu332=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 734751	NM_018646.6(TRPV6):c.969C>T (p.Ile323=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3049576	NM_018646.6(TRPV6):c.840T>C (p.Gly280=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder	GLikely benign
Select item 2704891	NM_018646.6(TRPV6):c.654C>T (p.Ile218=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GLikely benign
Select item 2786655	NM_018646.6(TRPV6):c.589T>C (p.Cys197Arg)	TRPV6 (C197R)	Single nucleotide variant (missense variant)	TRPV6-related disorder +1 more	GBenign
Select item 3052210	NM_018646.6(TRPV6):c.470-8dup	TRPV6	Duplication (intron variant)	TRPV6-related disorder	GBenign
Select item 3048151	NM_018646.6(TRPV6):c.78C>T (p.Val26=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder	GLikely benign

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Items: 24