ClinVar for MedGen (Select 934200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066341	NM_000782.5(CYP24A1):c.1507C>G (p.Pro503Ala)	CYP24A1 (P437A +1 more)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 2664932	NM_000782.5(CYP24A1):c.948G>T (p.Leu316Phe)	CYP24A1 (L316F)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 2506945	NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)	CYP24A1 (E122*)	Single nucleotide variant (nonsense)	Hypercalcemia, infantile, 1	GPathogenic
Select item 2506936	NM_000782.5(CYP24A1):c.641-1G>A	CYP24A1	Single nucleotide variant (splice acceptor variant)	Hypercalcemia, infantile, 1	GPathogenic
Select item 2101959	NM_000782.5(CYP24A1):c.366G>T (p.Glu122Asp)	CYP24A1 (E122D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1878365	NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)	CYP24A1 (G78fs)	Indel (frameshift variant)	Hypercalcemia, infantile, 1	GLikely pathogenic
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 1464834	NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser)	CYP24A1 (T272S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1455164	NM_000782.5(CYP24A1):c.1147G>C (p.Glu383Gln)	CYP24A1 (E383Q)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1443102	NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg)	CYP24A1 (K178R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1358313	NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile)	CYP24A1 (V200I)	Single nucleotide variant (missense variant)	not provided +1 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 1333737	NM_000782.5(CYP24A1):c.1268G>T (p.Gly423Val)	CYP24A1 (G423V)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 1333645	NM_000782.5(CYP24A1):c.1310C>A (p.Pro437His)	CYP24A1 (P437H)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 1324203	NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter)	CYP24A1 (K229*)	Single nucleotide variant (nonsense)	Hypercalcemia, infantile, 1	GLikely pathogenic
Select item 1179111	GRCh37/hg19 20q13.2(chr20:52769985-52790525)	CYP24A1	Copy number loss	Hypercalcemia, infantile, 1	GPathogenic
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 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 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 1033128	NM_000782.5(CYP24A1):c.449+2dup	CYP24A1	Duplication (splice donor variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 1028372	NM_000782.5(CYP24A1):c.833T>C (p.Ile278Thr)	CYP24A1 (I278T)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 1021961	NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser)	CYP24A1 (P59S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 953906	NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)	CYP24A1 (R396Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 931571	NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)	CYP24A1 (R439C)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1 +1 more	GConflicting classifications of pathogenicity
Select item 898655	NM_000782.5(CYP24A1):c.-112T>C	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
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 898600	NM_000782.5(CYP24A1):c.735G>A (p.Met245Ile)	CYP24A1 (M245I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898528	NM_000782.5(CYP24A1):c.*217A>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 897433	NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GConflicting classifications of pathogenicity
Select item 897372	NM_000782.5(CYP24A1):c.*525C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 897371	NM_000782.5(CYP24A1):c.*549A>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 897370	NM_000782.5(CYP24A1):c.*716G>A	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
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 897020	NM_000782.5(CYP24A1):c.376C>T (p.Pro126Ser)	CYP24A1 (P126S)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 897019	NM_000782.5(CYP24A1):c.397C>G (p.Pro133Ala)	CYP24A1 (P133A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 896942	NM_000782.5(CYP24A1):c.1254T>C (p.Asn418=)	CYP24A1	Single nucleotide variant (synonymous variant +1 more)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 896941	NM_000782.5(CYP24A1):c.1353G>A (p.Ala451=)	CYP24A1	Single nucleotide variant (synonymous variant +1 more)	Hypercalcemia, infantile, 1 +1 more	GConflicting classifications of pathogenicity
Select item 896940	NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile)	CYP24A1 (V457I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 896872	NM_000782.5(CYP24A1):c.*987T>C	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 896871	NM_000782.5(CYP24A1):c.*1122A>C	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 896870	NM_000782.5(CYP24A1):c.*1135C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 896869	NM_000782.5(CYP24A1):c.*1288A>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 895614	NM_000782.5(CYP24A1):c.469C>A (p.Arg157=)	CYP24A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 895613	NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala)	CYP24A1 (V158A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 895540	NM_000782.5(CYP24A1):c.1513C>G (p.Arg505Gly)	CYP24A1 (R439G +1 more)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 895539	NM_000782.5(CYP24A1):c.1518A>T (p.Glu506Asp)	CYP24A1 (E440D +1 more)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 895538	NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr)	CYP24A1 (A510T +1 more)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 789128	NM_000782.5(CYP24A1):c.733-9T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 758899	NM_000782.5(CYP24A1):c.753G>A (p.Arg251=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 728557	NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met)	CYP24A1 (L129M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 707094	NM_000782.5(CYP24A1):c.378G>A (p.Pro126=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GBenign/Likely benign
Select item 703574	NM_000782.5(CYP24A1):c.150C>T (p.Gly50=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 697520	NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser)	CYP24A1 (C303S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 697436	NM_000782.5(CYP24A1):c.1529C>T (p.Ala510Val)	CYP24A1 (A510V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 694500	NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile)	CYP24A1 (M1I)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1	GLikely pathogenic
Select item 634948	NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)	CYP24A1 (R157Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 632376	NM_000782.5(CYP24A1):c.62del (p.Pro21fs)	CYP24A1 (P21fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 338850	NM_000782.5(CYP24A1):c.-385G>A	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338849	NM_000782.5(CYP24A1):c.-307G>T	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338848	NM_000782.5(CYP24A1):c.-154T>G	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
Select item 338847	NM_000782.5(CYP24A1):c.-148T>C	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338846	NM_000782.5(CYP24A1):c.-135C>T	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338845	NM_000782.5(CYP24A1):c.-118T>C	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338844	NM_000782.5(CYP24A1):c.-94A>G	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
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 338842	NM_000782.5(CYP24A1):c.-50C>T	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338841	NM_000782.5(CYP24A1):c.-37C>A	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338840	NM_000782.5(CYP24A1):c.-17C>T	CYP24A1	Single nucleotide variant (5 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
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 338838	NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met)	CYP24A1 (T34M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 338837	NM_000782.5(CYP24A1):c.114G>T (p.Pro38=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 338836	NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe)	CYP24A1 (I73F)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GConflicting classifications of pathogenicity
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 338834	NM_000782.5(CYP24A1):c.259-5T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338833	NM_000782.5(CYP24A1):c.295A>G (p.Met99Val)	CYP24A1 (M99V)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338832	NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu)	CYP24A1 (R120L)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
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 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 338829	NM_000782.5(CYP24A1):c.604G>C (p.Asp202His)	CYP24A1 (D202H)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +2 more	GBenign/Likely benign
Select item 338828	NM_000782.5(CYP24A1):c.640+15C>G	CYP24A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338827	NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu)	CYP24A1 (G232E)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GConflicting classifications of pathogenicity
Select item 338826	NM_000782.5(CYP24A1):c.732+7A>T	CYP24A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 338824	NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro)	CYP24A1 (L259P)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 338823	NM_000782.5(CYP24A1):c.861C>A (p.Asp287Glu)	CYP24A1 (D287E)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338822	NM_000782.5(CYP24A1):c.990+3A>G	CYP24A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338821	NM_000782.5(CYP24A1):c.990+9G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 338820	NM_000782.5(CYP24A1):c.991-9G>A	CYP24A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338819	NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 338818	NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1	GUncertain significance
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 338816	NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu)	CYP24A1 (P375L)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338815	NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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

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