ClinVar for Gene (Select 1591) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341138	NM_000782.5(CYP24A1):c.1039del (p.Gln347fs)	CYP24A1 (Q347fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3270510	NM_000782.5(CYP24A1):c.78A>C (p.Arg26Ser)	CYP24A1 (R26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248321	NC_000020.10:g.(?_52763705)_(52774629_?)del	CYP24A1	Deletion	not provided	GUncertain significance
Select item 3248320	NC_000020.10:g.(?_52773718)_(52790118_?)del	CYP24A1	Deletion	not provided	GPathogenic
Select item 3236232	NM_000782.5(CYP24A1):c.7dup (p.Ser3fs)	CYP24A1 (S3fs)	Duplication (frameshift variant)	Hypercalcemia, infantile, 1	GLikely pathogenic
Select item 3236225	NM_000782.5(CYP24A1):c.670_673dup (p.Gly225fs)	CYP24A1 (G225fs)	Duplication (frameshift variant)	Hypercalcemia, infantile, 1	GPathogenic
Select item 3236073	NM_000782.5(CYP24A1):c.1320G>A (p.Trp440Ter)	CYP24A1 (W440*)	Single nucleotide variant (nonsense +1 more)	Hypercalcemia, infantile, 1	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3234027	NM_000782.5(CYP24A1):c.109C>T (p.Gln37Ter)	CYP24A1 (Q37*)	Single nucleotide variant (nonsense)	Hypercalcemia, infantile, 1	GPathogenic
Select item 3079404	NM_000782.5(CYP24A1):c.571G>T (p.Asp191Tyr)	CYP24A1 (D191Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079403	NM_000782.5(CYP24A1):c.34G>C (p.Ala12Pro)	CYP24A1 (A12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079402	NM_000782.5(CYP24A1):c.1502T>A (p.Leu501Gln)	CYP24A1 (L501Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079401	NM_000782.5(CYP24A1):c.116G>A (p.Arg39Gln)	CYP24A1 (R39Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3057446	NM_000782.5(CYP24A1):c.-7del	CYP24A1	Deletion (5 prime UTR variant)	CYP24A1-related disorder	GLikely benign
Select item 3047178	NM_000782.5(CYP24A1):c.171C>T (p.Ala57=)	CYP24A1	Single nucleotide variant (synonymous variant)	CYP24A1-related disorder	GLikely benign
Select item 3019023	NM_000782.5(CYP24A1):c.359G>A (p.Arg120His)	CYP24A1 (R120H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016767	NM_000782.5(CYP24A1):c.1513C>T (p.Arg505Trp)	CYP24A1 (R439W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007248	NM_000782.5(CYP24A1):c.733-19G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993674	NM_000782.5(CYP24A1):c.449+2T>C	CYP24A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2912919	NM_000782.5(CYP24A1):c.1022del (p.Asn341fs)	CYP24A1 (N341fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2904332	NM_000782.5(CYP24A1):c.732+9C>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893538	NM_000782.5(CYP24A1):c.1446A>G (p.Lys482=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885858	NM_000782.5(CYP24A1):c.369C>T (p.Ser123=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869485	NM_000782.5(CYP24A1):c.678del (p.Leu227fs)	CYP24A1 (L227fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2866341	NM_000782.5(CYP24A1):c.382C>T (p.Arg128Trp)	CYP24A1 (R128W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822708	NM_000782.5(CYP24A1):c.845-11T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807011	NM_000782.5(CYP24A1):c.544-18C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2729394	NM_000782.5(CYP24A1):c.437G>A (p.Gly146Glu)	CYP24A1 (G146E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716855	NM_000782.5(CYP24A1):c.1390G>C (p.Gly464Arg)	CYP24A1 (G464R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685647	GRCh37/hg19 20q13.2(chr20:51192560-53918272)x1	BCAS1, CYP24A1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2683548	NM_000782.5(CYP24A1):c.652G>A (p.Val218Met)	CYP24A1 (V218M)	Single nucleotide variant (missense variant)	not provided	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 2652423	NM_000782.5(CYP24A1):c.305G>C (p.Gly102Ala)	CYP24A1 (G102A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652422	NM_000782.5(CYP24A1):c.625A>G (p.Lys209Glu)	CYP24A1 (K209E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652421	NM_000782.5(CYP24A1):c.1236A>G (p.Gly412=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636539	NM_000782.5(CYP24A1):c.1430_1434+11del	CYP24A1	Deletion (intron variant +1 more)	CYP24A1-related disorder	GLikely pathogenic
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2558744	NM_000782.5(CYP24A1):c.1288G>A (p.Glu430Lys)	CYP24A1 (E430K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549031	NM_000782.5(CYP24A1):c.856A>G (p.Ile286Val)	CYP24A1 (I286V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544280	NM_000782.5(CYP24A1):c.688A>T (p.Asn230Tyr)	CYP24A1 (N230Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535527	NM_000782.5(CYP24A1):c.1298G>T (p.Ser433Ile)	CYP24A1 (S433I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2495690	NM_000782.5(CYP24A1):c.581G>A (p.Cys194Tyr)	CYP24A1 (C194Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490932	NM_000782.5(CYP24A1):c.337T>G (p.Cys113Gly)	CYP24A1 (C113G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482164	NM_000782.5(CYP24A1):c.1467C>G (p.Asp489Glu)	CYP24A1 (D423E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477504	NM_000782.5(CYP24A1):c.368G>A (p.Ser123Asn)	CYP24A1 (S123N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454835	NM_000782.5(CYP24A1):c.1450G>A (p.Asp484Asn)	CYP24A1 (D484N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420062	NM_000782.5(CYP24A1):c.1191T>A (p.Thr397=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411429	NM_000782.5(CYP24A1):c.688A>C (p.Asn230His)	CYP24A1 (N230H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398535	NM_000782.5(CYP24A1):c.323A>G (p.His108Arg)	CYP24A1 (H108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367135	NM_000782.5(CYP24A1):c.356A>G (p.Tyr119Cys)	CYP24A1 (Y119C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327122	NM_000782.5(CYP24A1):c.1535G>A (p.Cys512Tyr)	CYP24A1 (C512Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311515	NM_000782.5(CYP24A1):c.134C>A (p.Pro45Gln)	CYP24A1 (P45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196541	NM_000782.5(CYP24A1):c.1434+5A>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185427	NM_000782.5(CYP24A1):c.576G>C (p.Glu192Asp)	CYP24A1 (E192D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2159550	NM_000782.5(CYP24A1):c.449+1G>T	CYP24A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2157287	NM_000782.5(CYP24A1):c.844+10C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154023	NM_000782.5(CYP24A1):c.116G>T (p.Arg39Leu)	CYP24A1 (R39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138356	NM_000782.5(CYP24A1):c.1508C>T (p.Pro503Leu)	CYP24A1 (P437L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2129787	NM_000782.5(CYP24A1):c.509_514del (p.Gly170_Glu171del)	CYP24A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2124827	NM_000782.5(CYP24A1):c.304G>C (p.Gly102Arg)	CYP24A1 (G102R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2111621	NM_000782.5(CYP24A1):c.224G>A (p.Trp75Ter)	CYP24A1 (W75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2111620	NM_000782.5(CYP24A1):c.259-1G>A	CYP24A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2106547	NM_000782.5(CYP24A1):c.544-13_544-11del	CYP24A1	Microsatellite (intron variant)	not provided	GLikely benign
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 2098647	NM_000782.5(CYP24A1):c.1157+2T>A	CYP24A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2081156	NM_000782.5(CYP24A1):c.1100G>A (p.Arg367Gln)	CYP24A1 (R367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2077753	NM_000782.5(CYP24A1):c.1235G>A (p.Gly412Glu)	CYP24A1 (G412E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067418	NM_000782.5(CYP24A1):c.652G>T (p.Val218Leu)	CYP24A1 (V218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2040775	NM_000782.5(CYP24A1):c.1139G>A (p.Cys380Tyr)	CYP24A1 (C380Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005956	NM_000782.5(CYP24A1):c.1259A>C (p.Gln420Pro)	CYP24A1 (Q420P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988031	NM_000782.5(CYP24A1):c.324C>A (p.His108Gln)	CYP24A1 (H108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984362	NM_000782.5(CYP24A1):c.1387A>G (p.Ile463Val)	CYP24A1 (I463V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982867	NM_000782.5(CYP24A1):c.449+7C>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979274	NM_000782.5(CYP24A1):c.743C>T (p.Thr248Met)	CYP24A1 (T248M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974478	NM_000782.5(CYP24A1):c.320T>C (p.Val107Ala)	CYP24A1 (V107A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971048	NM_000782.5(CYP24A1):c.537C>A (p.Ile179=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959393	NM_000782.5(CYP24A1):c.1058T>C (p.Leu353Pro)	CYP24A1 (L353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957090	NM_000782.5(CYP24A1):c.771C>T (p.Val257=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948727	NM_000782.5(CYP24A1):c.639A>C (p.Glu213Asp)	CYP24A1 (E213D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948222	NM_000782.5(CYP24A1):c.683A>G (p.Gln228Arg)	CYP24A1 (Q228R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945084	NM_000782.5(CYP24A1):c.928C>T (p.Arg310Trp)	CYP24A1 (R310W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1941936	NM_000782.5(CYP24A1):c.1384_1385del (p.Cys462fs)	CYP24A1 (C462fs)	Microsatellite (frameshift variant +1 more)	Hypercalcemia, infantile, 1 +1 more	GPathogenic
Select item 1931432	NM_000782.5(CYP24A1):c.258+16C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925324	NM_000782.5(CYP24A1):c.306T>C (p.Gly102=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922951	NM_000782.5(CYP24A1):c.543+15G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921724	NM_000782.5(CYP24A1):c.1236+13T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921257	NM_000782.5(CYP24A1):c.250G>A (p.Asp84Asn)	CYP24A1 (D84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919479	NM_000782.5(CYP24A1):c.1490A>C (p.His497Pro)	CYP24A1 (H431P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914788	NM_000782.5(CYP24A1):c.1171_1174dup (p.Pro392fs)	CYP24A1 (P392fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1913130	NM_000782.5(CYP24A1):c.788T>C (p.Leu263Pro)	CYP24A1 (L263P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908002	NM_000782.5(CYP24A1):c.844+11G>A	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904576	NM_000782.5(CYP24A1):c.1282A>G (p.Asn428Asp)	CYP24A1 (N428D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903836	NM_000782.5(CYP24A1):c.1113G>A (p.Leu371=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903225	NM_000782.5(CYP24A1):c.1519C>A (p.Leu507Ile)	CYP24A1 (L441I +1 more)	Single nucleotide variant (missense variant)	not provided	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 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	not provided	GUncertain significance
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

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