"GeneDx"[submitter] AND "CYP24A1"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1252506	NM_000782.5(CYP24A1):c.*10+198A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282138	NM_000782.5(CYP24A1):c.*10+74A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338811	NM_000782.5(CYP24A1):c.1527C>T (p.Ile509=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GBenign
Select item 1803423	NM_000782.5(CYP24A1):c.1525A>G (p.Ile509Val)	CYP24A1 (I443V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 896940	NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile)	CYP24A1 (V457I)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 1277733	NM_000782.5(CYP24A1):c.1236+198T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236993	NM_000782.5(CYP24A1):c.1236+146G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239909	NM_000782.5(CYP24A1):c.1236+46T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296755	NM_000782.5(CYP24A1):c.1236+24T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 29679	NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)	CYP24A1 (R396W)	Single nucleotide variant (missense variant)	Muscle spasm +2 more	GPathogenic/Likely pathogenic
Select item 1238325	NM_000782.5(CYP24A1):c.1158-180G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276706	NM_000782.5(CYP24A1):c.1158-200C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236856	NM_000782.5(CYP24A1):c.1157+204C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264412	NM_000782.5(CYP24A1):c.1157+178G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338815	NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GBenign
Select item 338817	NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr)	CYP24A1 (M374T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1279392	NM_000782.5(CYP24A1):c.991-66T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260188	NM_000782.5(CYP24A1):c.991-112C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268581	NM_000782.5(CYP24A1):c.991-289_991-287dup	CYP24A1	Duplication (intron variant)	not provided	GBenign
Select item 1236955	NM_000782.5(CYP24A1):c.991-289dup	CYP24A1	Duplication (intron variant)	not provided	GBenign
Select item 1231461	NM_000782.5(CYP24A1):c.991-289_991-286dup	CYP24A1	Duplication (intron variant)	not provided	GBenign
Select item 1239841	NM_000782.5(CYP24A1):c.990+295A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282351	NM_000782.5(CYP24A1):c.990+174G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174391	NM_000782.5(CYP24A1):c.990+46C>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248960	NM_000782.5(CYP24A1):c.990+44A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338821	NM_000782.5(CYP24A1):c.990+9G>A	CYP24A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 1 +1 more	GBenign
Select item 697520	NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser)	CYP24A1 (C303S)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GBenign/Likely benign
Select item 1182961	NM_000782.5(CYP24A1):c.844+79T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338825	NM_000782.5(CYP24A1):c.744G>A (p.Thr248=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1297888	NM_000782.5(CYP24A1):c.733-149C>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177674	NM_000782.5(CYP24A1):c.733-162A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277064	NM_000782.5(CYP24A1):c.733-282dup	CYP24A1	Duplication (intron variant)	not provided	GBenign
Select item 1193029	NM_000782.5(CYP24A1):c.733-265del	CYP24A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1205305	NM_000782.5(CYP24A1):c.733-269_733-266del	CYP24A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1195784	NM_000782.5(CYP24A1):c.733-266del	CYP24A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1211130	NM_000782.5(CYP24A1):c.732+253A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242836	NM_000782.5(CYP24A1):c.732+231G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280405	NM_000782.5(CYP24A1):c.732+230T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252890	NM_000782.5(CYP24A1):c.641-66A>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278639	NM_000782.5(CYP24A1):c.640+272T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226435	NM_000782.5(CYP24A1):c.640+58A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338831	NM_000782.5(CYP24A1):c.552C>T (p.Ala184=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1243790	NM_000782.5(CYP24A1):c.544-179A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256746	NM_000782.5(CYP24A1):c.543+103T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202276	NM_000782.5(CYP24A1):c.543+81A>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 634948	NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)	CYP24A1 (R157Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895614	NM_000782.5(CYP24A1):c.469C>A (p.Arg157=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +2 more	GBenign/Likely benign
Select item 285894	NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)	CYP24A1 (R157W)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1182947	NM_000782.5(CYP24A1):c.450-85G>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291952	NM_000782.5(CYP24A1):c.450-105A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187714	NM_000782.5(CYP24A1):c.450-237T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188424	NM_000782.5(CYP24A1):c.449+147C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248430	NM_000782.5(CYP24A1):c.449+31G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631878	NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro)	CYP24A1 (L148P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 29677	NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)	CYP24A1 (E143del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 1214572	NM_000782.5(CYP24A1):c.259-58C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218976	NM_000782.5(CYP24A1):c.259-87T>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241606	NM_000782.5(CYP24A1):c.259-105G>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205552	NM_000782.5(CYP24A1):c.258+76A>G	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 338835	NM_000782.5(CYP24A1):c.234T>G (p.Gly78=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 338837	NM_000782.5(CYP24A1):c.114G>T (p.Pro38=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GBenign/Likely benign
Select item 632376	NM_000782.5(CYP24A1):c.62del (p.Pro21fs)	CYP24A1 (P21fs)	Deletion (frameshift variant)	Hypercalcemia, infantile, 1 +1 more	GPathogenic/Likely pathogenic
Select item 338843	NM_000782.5(CYP24A1):c.-76C>T	CYP24A1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 898654	NM_000782.5(CYP24A1):c.-100T>C	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1 +1 more	GBenign/Likely benign
Select item 1194501	NM_000782.5(CYP24A1):c.-353del	CYP24A1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 369357	NM_000782.5(CYP24A1):c.-400G>A	CYP24A1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1706943	NC_000020.11:g.54174113G>C	CYP24A1	Single nucleotide variant	not provided	GLikely benign
Select item 1183670	NC_000020.11:g.54174165G>C	CYP24A1	Single nucleotide variant	not provided	GLikely benign
Select item 1203754	NC_000020.11:g.54174215C>T	CYP24A1	Single nucleotide variant	not provided	GLikely benign
Select item 1238763	NC_000020.11:g.54174247T>G	CYP24A1	Single nucleotide variant	not provided	GBenign
Select item 1678753	NC_000020.11:g.54174265T>C	CYP24A1	Single nucleotide variant	not provided	GLikely benign

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Items: 71