VDR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 308811	NM_000376.3(VDR):c.*2974A>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308812	NM_000376.3(VDR):c.*2973G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308813	NM_000376.3(VDR):c.*2900A>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308814	NM_000376.3(VDR):c.*2878A>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880825	NM_000376.3(VDR):c.*2832C>T	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 308815	NM_000376.3(VDR):c.*2827A>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308816	NM_000376.3(VDR):c.*2791G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GBenign
Select item 308817	NM_000376.3(VDR):c.*2658dup	VDR	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308818	NM_000376.3(VDR):c.*2593A>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 880826	NM_000376.3(VDR):c.*2545G>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880827	NM_000376.3(VDR):c.*2529G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880828	NM_000376.3(VDR):c.*2491A>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880829	NM_000376.3(VDR):c.*2464C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308819	NM_000376.3(VDR):c.*2456C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882216	NM_000376.3(VDR):c.*2446G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308820	NM_000376.3(VDR):c.*2413G>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308821	NM_000376.3(VDR):c.*2391C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308822	NM_000376.3(VDR):c.*2359C>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308823	NM_000376.3(VDR):c.*2328C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882217	NM_000376.3(VDR):c.*2309C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882218	NM_000376.3(VDR):c.*2296T>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308824	NM_000376.3(VDR):c.*2263G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308825	NM_000376.3(VDR):c.*2227G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308826	NM_000376.3(VDR):c.*2226C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308827	NM_000376.3(VDR):c.*2168G>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308828	NM_000376.3(VDR):c.*2143A>T	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 882463	NM_000376.3(VDR):c.*2127C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308829	NM_000376.3(VDR):c.*2124dup	VDR	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308831	NM_000376.3(VDR):c.*2122dup	VDR	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308832	NM_000376.3(VDR):c.2117_2122del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GBenign
Select item 308830	NM_000376.3(VDR):c.2118_2122del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets +1 more	GUncertain significance
Select item 308833	NM_000376.3(VDR):c.2100_2105del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308835	NM_000376.3(VDR):c.*2102C>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308834	NM_000376.3(VDR):c.*2102del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 882464	NM_000376.3(VDR):c.*2047G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308836	NM_000376.3(VDR):c.*2034A>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308837	NM_000376.3(VDR):c.*2023G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308838	NM_000376.3(VDR):c.*1992C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308839	NM_000376.3(VDR):c.*1982C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308840	NM_000376.3(VDR):c.*1979C>G	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 884171	NM_000376.3(VDR):c.*1906C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308841	NM_000376.3(VDR):c.*1906C>A	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 308842	NM_000376.3(VDR):c.*1865G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308843	NM_000376.3(VDR):c.*1805A>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308844	NM_000376.3(VDR):c.*1666A>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880886	NM_000376.3(VDR):c.*1505G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880887	NM_000376.3(VDR):c.*1503G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GBenign
Select item 308845	NM_000376.3(VDR):c.*1482G>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308846	NM_000376.3(VDR):c.*1477C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880888	NM_000376.3(VDR):c.*1437G>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308847	NM_000376.3(VDR):c.*1420T>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308848	NM_000376.3(VDR):c.*1319C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882259	NM_000376.3(VDR):c.*1281G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308849	NM_000376.3(VDR):c.*1253T>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308850	NM_000376.3(VDR):c.*1235CCAGC[4]	VDR	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 882260	NM_000376.3(VDR):c.*1242A>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308851	NM_000376.3(VDR):c.*1226T>C	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 308852	NM_000376.3(VDR):c.*1191G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308853	NM_000376.3(VDR):c.*1179del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308854	NM_000376.3(VDR):c.*1178A>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 882261	NM_000376.3(VDR):c.*967C>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308855	NM_000376.3(VDR):c.*948GAG[1]	VDR	Microsatellite (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308856	NM_000376.3(VDR):c.*882C>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308857	NM_000376.3(VDR):c.*877C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882522	NM_000376.3(VDR):c.*843C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308858	NM_000376.3(VDR):c.*827C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882523	NM_000376.3(VDR):c.*773T>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308859	NM_000376.3(VDR):c.*748T>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2697799	NM_000376.3(VDR):c.1181_*670del (p.Asn394_Ter428delinsXaa)	VDR	Deletion (stop lost +1 more)	not provided	GPathogenic
Select item 882524	NM_000376.3(VDR):c.*623A>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882525	NM_000376.3(VDR):c.*601C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882526	NM_000376.3(VDR):c.*562A>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308860	NM_000376.3(VDR):c.*534T>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308861	NM_000376.3(VDR):c.*487C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308862	NM_000376.3(VDR):c.*461G>T	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 308863	NM_000376.3(VDR):c.*437C>G	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 883309	NM_000376.3(VDR):c.*415C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308864	NM_000376.3(VDR):c.*409G>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308865	NM_000376.3(VDR):c.*408T>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GLikely benign
Select item 308866	NM_000376.3(VDR):c.*405G>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880947	NM_000376.3(VDR):c.*404C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308867	NM_000376.3(VDR):c.*387C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308868	NM_000376.3(VDR):c.*308C>A	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 308869	NM_000376.3(VDR):c.*298C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880948	NM_000376.3(VDR):c.*222G>C	VDR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 308870	NM_000376.3(VDR):c.*184T>G	VDR (F490V)	Single nucleotide variant (3 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia +1 more	GConflicting classifications of pathogenicity
Select item 308871	NM_000376.3(VDR):c.*111C>A	VDR	Single nucleotide variant (3 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308872	NM_000376.3(VDR):c.*97G>A	VDR (V461I)	Single nucleotide variant (3 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882307	NM_000376.3(VDR):c.*71G>A	VDR (R452Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308873	NM_000376.3(VDR):c.*70C>T	VDR (R452W)	Single nucleotide variant (3 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882308	NM_000376.3(VDR):c.*51G>A	VDR	Single nucleotide variant (3 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2099534	NM_000376.3(VDR):c.1273G>A (p.Glu425Lys)	VDR (E475K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085271	NM_000376.3(VDR):c.1257C>T (p.Leu419=)	VDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080684	NM_000376.3(VDR):c.1257C>G (p.Leu419=)	VDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904068	NM_000376.3(VDR):c.1242A>C (p.Leu414=)	VDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999663	NM_000376.3(VDR):c.1233C>T (p.Ser411=)	VDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992465	NM_000376.3(VDR):c.1229G>T (p.Cys410Phe)	VDR (C410F +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
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 2792281	NM_000376.3(VDR):c.1214C>T (p.Ser405Phe)	VDR (S405F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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