"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP24A1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1072834	NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter)	CYP24A1 (R466*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 896943	NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn)	CYP24A1 (Y407N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 338814	NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile)	CYP24A1 (V403I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 953906	NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)	CYP24A1 (R396Q)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GPathogenic/Likely pathogenic
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 1464180	NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu)	CYP24A1 (A368E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 702572	NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GLikely benign
Select item 1015029	NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe)	CYP24A1 (L302F)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 1464834	NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser)	CYP24A1 (T272S)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 338824	NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro)	CYP24A1 (L259P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 758899	NM_000782.5(CYP24A1):c.753G>A (p.Arg251=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GLikely benign
Select item 789128	NM_000782.5(CYP24A1):c.733-9T>C	CYP24A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 1 +1 more	GLikely benign
Select item 1079881	NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys)	CYP24A1 (E206K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1358313	NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile)	CYP24A1 (V200I)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 338830	NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile)	CYP24A1 (L193I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1443102	NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg)	CYP24A1 (K178R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 762091	NM_000782.5(CYP24A1):c.439C>T (p.Leu147=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1036471	NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg)	CYP24A1 (K142R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 707094	NM_000782.5(CYP24A1):c.378G>A (p.Pro126=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 897021	NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr)	CYP24A1 (M99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1021961	NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser)	CYP24A1 (P59S)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 1532013	NM_000782.5(CYP24A1):c.172C>T (p.Leu58=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 338838	NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met)	CYP24A1 (T34M)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +2 more	GUncertain significance
Select item 1336601	NM_000782.5(CYP24A1):c.93G>A (p.Thr31=)	CYP24A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 338839	NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala)	CYP24A1 (P25A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1179111	GRCh37/hg19 20q13.2(chr20:52769985-52790525)	CYP24A1	Copy number loss	Hypercalcemia, infantile, 1	GPathogenic

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Items: 31