ClinVar for MedGen (Select 90989) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064965	NM_000376.3(VDR):c.820C>T (p.Arg274Cys)	VDR (R274C +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 3064877	NM_000376.3(VDR):c.670C>T (p.Leu224Phe)	VDR (L224F +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2691486	NM_000376.3(VDR):c.-2-1G>A	VDR	Single nucleotide variant (splice acceptor variant)	Vitamin D-dependent rickets type II with alopecia	GLikely pathogenic
Select item 2690923	NM_000376.3(VDR):c.702C>A (p.Val234=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2585094	NM_000376.3(VDR):c.985G>C (p.Glu329Gln)	VDR (E379Q +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2506489	NM_000376.3(VDR):c.856T>C (p.Trp286Arg)	VDR (W286R +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GPathogenic
Select item 2444136	NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)	VDR (R402C +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2438524	NM_000376.3(VDR):c.967C>G (p.Leu323Val)	VDR (L323V +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2438523	NM_000376.3(VDR):c.446A>G (p.Asp149Gly)	VDR (D149G +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2434513	NM_000376.3(VDR):c.146+1G>T	VDR	Single nucleotide variant (splice donor variant)	Vitamin D-dependent rickets type II with alopecia	GLikely pathogenic
Select item 1686293	NM_000376.3(VDR):c.217C>T (p.Arg73Ter)	VDR (R123* +1 more)	Single nucleotide variant (nonsense)	Vitamin D-dependent rickets type II with alopecia +1 more	GPathogenic
Select item 1640006	NM_000376.3(VDR):c.162G>A (p.Arg54=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1555177	NM_000376.3(VDR):c.897C>T (p.Asp299=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GLikely benign
Select item 1516080	NM_000376.3(VDR):c.781G>A (p.Val261Ile)	VDR (V311I +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +2 more	GUncertain significance
Select item 1432897	NM_000376.3(VDR):c.519A>T (p.Arg173Ser)	VDR (R173S +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 1425408	NM_000376.3(VDR):c.199C>T (p.Arg67Cys)	VDR (R67C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1407165	NM_000376.3(VDR):c.110A>G (p.Asn37Ser)	VDR (N37S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395915	NM_000376.3(VDR):c.146+5G>A	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1343093	NM_000376.3(VDR):c.-45A>G	VDR (R36G)	Single nucleotide variant (5 prime UTR variant +2 more)	Vitamin D-dependent rickets type II with alopecia	GLikely pathogenic
Select item 1343092	NM_000376.3(VDR):c.148C>T (p.Arg50Ter)	VDR (R100* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1342526	NM_000376.3(VDR):c.1103G>T (p.Arg368Leu)	VDR (R368L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1252227	NM_000376.3(VDR):c.1025-49G>T	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1056222	NM_000376.3(VDR):c.565C>A (p.His189Asn)	VDR (H189N +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 1037220	NM_000376.3(VDR):c.1045G>A (p.Ala349Thr)	VDR (A399T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017357	NM_000376.3(VDR):c.1104_1105inv (p.Cys369Gly)	VDR (C369G +1 more)	Inversion (missense variant)	not provided	GUncertain significance
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 962188	NM_000376.3(VDR):c.361C>T (p.Arg121Trp)	VDR (R121W +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 953840	NM_000376.3(VDR):c.257A>G (p.Asp86Gly)	VDR (D86G +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 950224	NM_000376.3(VDR):c.86A>G (p.Asp29Gly)	VDR (D29G +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 944289	NM_000376.3(VDR):c.460C>T (p.Arg154Trp)	VDR (R204W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915348	NM_000376.3(VDR):c.821G>A (p.Arg274His)	VDR (R324H +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GLikely pathogenic
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 883402	NM_001017535.1(VDR):c.-263A>C	LOC130007784, VDR	Single nucleotide variant	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 883360	NM_000376.3(VDR):c.972C>T (p.Asn324=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 882630	NM_000376.3(VDR):c.-84+5034C>T	VDR	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882629	NM_000376.3(VDR):c.-84+5072C>T	VDR	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882628	NM_000376.3(VDR):c.-84+5083G>T	VDR	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882627	NM_000376.3(VDR):c.-84+5133G>T	VDR	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 882577	NM_000376.3(VDR):c.1095G>A (p.Thr365=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882576	NM_000376.3(VDR):c.1098C>T (p.Tyr366=)	VDR	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 882575	NM_000376.3(VDR):c.1121C>G (p.Pro374Arg)	VDR (P424R +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	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 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 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 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 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 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 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 882357	NM_000376.3(VDR):c.14C>T (p.Ala5Val)	VDR (A5V +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 882356	NM_000376.3(VDR):c.52C>T (p.Arg18Trp)	VDR (R68W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882355	NM_000376.3(VDR):c.57C>T (p.Asn19=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GBenign
Select item 882354	NM_000376.3(VDR):c.64C>T (p.Arg22Trp)	VDR (R22W +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GConflicting classifications of pathogenicity
Select item 882309	NM_000376.3(VDR):c.1183G>C (p.Glu395Gln)	VDR (E395Q +1 more)	Single nucleotide variant (missense variant)	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 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 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 880999	NM_000376.3(VDR):c.65G>A (p.Arg22Gln)	VDR (R22Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880998	NM_000376.3(VDR):c.221G>A (p.Arg74His)	VDR (R124H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880997	NM_000376.3(VDR):c.274G>A (p.Glu92Lys)	VDR (E142K +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 880996	NM_000376.3(VDR):c.311G>A (p.Arg104Gln)	VDR (R104Q +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +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)	not provided +1 more	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 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 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 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 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 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 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 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 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 880825	NM_000376.3(VDR):c.*2832C>T	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 860001	NM_000376.3(VDR):c.1016T>C (p.Val339Ala)	VDR (V339A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 848467	NM_000376.3(VDR):c.89G>A (p.Arg30Gln)	VDR (R30Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 796847	NM_000376.3(VDR):c.1206C>A (p.Arg402=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GBenign/Likely benign
Select item 791551	NM_000376.3(VDR):c.444C>T (p.Ser148=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GBenign/Likely benign
Select item 778589	NM_000376.3(VDR):c.48T>C (p.Phe16=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 754732	NM_000376.3(VDR):c.1085C>T (p.Thr362Ile)	VDR (T412I +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +2 more	GConflicting classifications of pathogenicity
Select item 736572	NM_000376.3(VDR):c.219A>G (p.Arg73=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 733434	NM_000376.3(VDR):c.429C>T (p.Tyr143=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727362	NM_000376.3(VDR):c.1073G>A (p.Arg358His)	VDR (R408H +1 more)	Single nucleotide variant (missense variant)	VDR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 708021	NM_000376.3(VDR):c.933G>A (p.Glu311=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GConflicting classifications of pathogenicity
Select item 635013	NM_000376.3(VDR):c.227G>T (p.Cys76Phe)	VDR (C76F +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308893	NM_001017535.1(VDR):c.-250G>A	LOC130007784, VDR	Single nucleotide variant	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308892	NM_000376.3(VDR):c.-84+5000T>C	VDR	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308891	NM_000376.3(VDR):c.-84+5022C>A	VDR	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets type II with alopecia	GBenign
Select item 308889	NM_000376.3(VDR):c.-84+5133G>C	VDR	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GBenign
Select item 308888	NM_000376.3(VDR):c.-12G>C	VDR (A47P)	Single nucleotide variant (5 prime UTR variant +2 more)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 308887	NM_000376.3(VDR):c.2T>C (p.Met1Thr)	VDR (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 308886	NM_000376.3(VDR):c.146+8C>T	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 308884	NM_000376.3(VDR):c.278-5C>T	VDR	Single nucleotide variant (intron variant)	VDR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 308883	NM_000376.3(VDR):c.755+13T>C	VDR	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GConflicting classifications of pathogenicity
Select item 308882	NM_000376.3(VDR):c.889G>A (p.Val297Ile)	VDR (V297I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 308881	NM_000376.3(VDR):c.908-14A>G	VDR	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GConflicting classifications of pathogenicity

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