"Ambry Genetics"[submitter] AND "VDR"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1917095	NM_000376.3(VDR):c.1216T>A (p.Phe406Ile)	VDR (F406I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3188426	NM_000376.3(VDR):c.1108C>T (p.Arg370Cys)	VDR (R420C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519398	NM_000376.3(VDR):c.1108C>G (p.Arg370Gly)	VDR (R370G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188425	NM_000376.3(VDR):c.1040A>G (p.Gln347Arg)	VDR (Q397R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308882	NM_000376.3(VDR):c.889G>A (p.Val297Ile)	VDR (V297I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1949259	NM_000376.3(VDR):c.869A>G (p.Asn290Ser)	VDR (N290S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2267460	NM_000376.3(VDR):c.613C>G (p.Leu205Val)	VDR (L205V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521491	NM_000376.3(VDR):c.575C>G (p.Thr192Ser)	VDR (T242S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1036372	NM_000376.3(VDR):c.542A>G (p.Asp181Gly)	VDR (D231G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1006650	NM_000376.3(VDR):c.463C>A (p.Pro155Thr)	VDR (P155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136689	NM_000376.3(VDR):c.389G>A (p.Arg130His)	VDR (R180H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880995	NM_000376.3(VDR):c.362G>A (p.Arg121Gln)	VDR (R171Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3188427	NM_000376.3(VDR):c.236G>A (p.Cys79Tyr)	VDR (C129Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1425408	NM_000376.3(VDR):c.199C>T (p.Arg67Cys)	VDR (R67C +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +2 more	GUncertain significance
Select item 1370955	NM_000376.3(VDR):c.161G>A (p.Arg54Gln)	VDR (R54Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1193364	NM_000376.3(VDR):c.156G>T (p.Met52Ile)	VDR (M102I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2410921	NM_000376.3(VDR):c.58G>A (p.Val20Met)	VDR (V20M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261491	NM_000376.3(VDR):c.17C>T (p.Ala6Val)	VDR (A56V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance