"GeneDx"[submitter] AND "VDR"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1038635	NM_000376.3(VDR):c.1102C>T (p.Arg368Cys)	VDR (R368C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429695	NM_000376.3(VDR):c.1088T>C (p.Leu363Pro)	VDR (L363P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 308877	NM_000376.3(VDR):c.1056T>C (p.Ile352=)	VDR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 381603	NM_000376.3(VDR):c.1027C>T (p.Arg343Cys)	VDR (R343C +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GLikely pathogenic
Select item 1252227	NM_000376.3(VDR):c.1025-49G>T	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1251714	NM_000376.3(VDR):c.1025-95G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182749	NM_000376.3(VDR):c.1025-112G>C	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259287	NM_000376.3(VDR):c.1024+283G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708021	NM_000376.3(VDR):c.933G>A (p.Glu311=)	VDR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308880	NM_000376.3(VDR):c.909C>T (p.Ala303=)	VDR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1267894	NM_000376.3(VDR):c.907+73dup	VDR	Duplication (intron variant)	not provided	GBenign
Select item 1186295	NM_000376.3(VDR):c.756-257C>A	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277091	NM_000376.3(VDR):c.755+259ATTT[9]	VDR	Microsatellite (intron variant)	not provided	GBenign
Select item 1242987	NM_000376.3(VDR):c.755+259ATTT[10]	VDR	Microsatellite (intron variant)	not provided	GBenign
Select item 1216185	NM_000376.3(VDR):c.755+259ATTT[11]	VDR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1272906	NM_000376.3(VDR):c.755+154G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214262	NM_000376.3(VDR):c.584-49T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286917	NM_000376.3(VDR):c.584-276C>T	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200129	NM_000376.3(VDR):c.583+143C>T	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220995	NM_000376.3(VDR):c.583+118A>T	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
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 1196347	NM_000376.3(VDR):c.463-44G>A	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247454	NM_000376.3(VDR):c.278-62G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252969	NM_000376.3(VDR):c.278-71C>T	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214071	NM_000376.3(VDR):c.277+195G>A	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7746	NM_000376.3(VDR):c.218G>A (p.Arg73Gln)	VDR (R73Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1175393	NM_000376.3(VDR):c.147-65C>T	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202964	NM_000376.3(VDR):c.147-164T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258255	NM_000376.3(VDR):c.147-166G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231146	NM_000376.3(VDR):c.146+290C>T	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186704	NM_000376.3(VDR):c.146+236T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 308886	NM_000376.3(VDR):c.146+8C>T	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 882354	NM_000376.3(VDR):c.64C>T (p.Arg22Trp)	VDR (R22W +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 308887	NM_000376.3(VDR):c.2T>C (p.Met1Thr)	VDR (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1190138	NM_000376.3(VDR):c.-2-51G>A	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197170	NM_000376.3(VDR):c.-2-95G>A	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222328	NM_000376.3(VDR):c.-2-162T>C	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223760	NM_000376.3(VDR):c.-2-186T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186757	NM_000376.3(VDR):c.-2-306_-2-296del	VDR	Deletion (intron variant)	not provided	GLikely benign
Select item 1278355	NM_000376.3(VDR):c.-2-309A>G	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270527	NM_000376.3(VDR):c.-2-321A>C	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183187	NM_000376.3(VDR):c.-3+256G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235546	NM_000376.3(VDR):c.-3+48A>G	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189196	NM_000376.3(VDR):c.-3+45T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206574	NM_000376.3(VDR):c.-83-56T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185938	NM_000376.3(VDR):c.-83-288C>T	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215715	NM_000376.3(VDR):c.-84+443T>C	VDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190172	NC_000012.12:g.47905067GCCCCGCCCCG[1]	LOC130007784, VDR	Microsatellite	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53