1591[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	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 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 369356	NM_000782.4(CYP24A1):c.*1327G>A	CYP24A1	Single nucleotide variant (genic downstream transcript variant)	Infantile hypercalcemia +1 more	GBenign
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 338789	NM_000782.5(CYP24A1):c.1256_1257insAT	CYP24A1	Insertion (3 prime UTR variant)	Infantile hypercalcemia	GBenign
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 896871	NM_000782.5(CYP24A1):c.*1122A>C	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338790	NM_000782.5(CYP24A1):c.*1095C>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338791	NM_000782.5(CYP24A1):c.*1091C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338792	NM_000782.5(CYP24A1):c.*1014C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	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 338793	NM_000782.5(CYP24A1):c.*885T>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
Select item 338794	NM_000782.5(CYP24A1):c.*872C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
Select item 338795	NM_000782.5(CYP24A1):c.*838T>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338796	NM_000782.5(CYP24A1):c.*748G>A	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 338797	NM_000782.5(CYP24A1):c.*715C>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1 +1 more	GBenign
Select item 338798	NM_000782.5(CYP24A1):c.*702GT[5]	CYP24A1	Microsatellite (3 prime UTR variant)	Infantile hypercalcemia	GUncertain significance
Select item 338799	NM_000782.5(CYP24A1):c.*688GT[7]	CYP24A1	Microsatellite (3 prime UTR variant)	Infantile hypercalcemia	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 897372	NM_000782.5(CYP24A1):c.*525C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338800	NM_000782.5(CYP24A1):c.*518A>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Infantile hypercalcemia	GUncertain significance
Select item 338801	NM_000782.5(CYP24A1):c.*454G>A	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338802	NM_000782.5(CYP24A1):c.*438C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
Select item 338803	NM_000782.5(CYP24A1):c.*375A>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338804	NM_000782.5(CYP24A1):c.*317T>C	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338805	NM_000782.5(CYP24A1):c.*244C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	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 338806	NM_000782.5(CYP24A1):c.*140T>C	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1 +1 more	GBenign
Select item 338807	NM_000782.5(CYP24A1):c.*80A>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338808	NM_000782.5(CYP24A1):c.*77T>G	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GBenign
Select item 338809	NM_000782.5(CYP24A1):c.*51G>A	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 338810	NM_000782.5(CYP24A1):c.*50C>T	CYP24A1	Single nucleotide variant (3 prime UTR variant)	Hypercalcemia, infantile, 1 +1 more	GBenign
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 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 1155914	NM_000782.5(CYP24A1):c.1530G>A (p.Ala510=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 895538	NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr)	CYP24A1 (A510T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1446233	NM_000782.5(CYP24A1):c.1518A>C (p.Glu506Asp)	CYP24A1 (E506D +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 726563	NM_000782.5(CYP24A1):c.1500C>T (p.Thr500=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1622534	NM_000782.5(CYP24A1):c.1460C>T (p.Ala487Val)	CYP24A1 (A421V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 338812	NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=)	CYP24A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 1 +1 more	GUncertain significance
Select item 2893538	NM_000782.5(CYP24A1):c.1446A>G (p.Lys482=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663016	NM_000782.5(CYP24A1):c.1435-14C>T	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167760	NM_000782.5(CYP24A1):c.1435-16T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636539	NM_000782.5(CYP24A1):c.1430_1434+11del	CYP24A1	Deletion (intron variant +1 more)	CYP24A1-related disorder	GLikely pathogenic
Select item 2196541	NM_000782.5(CYP24A1):c.1434+5A>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 29675	NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs)	CYP24A1 (C477fs)	Microsatellite (frameshift variant +1 more)	Hypercalcemia, infantile, 1	GPathogenic
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 1063076	NM_000782.5(CYP24A1):c.1394G>A (p.Arg465His)	CYP24A1 (R465H)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 1354397	NM_000782.5(CYP24A1):c.1366G>C (p.Gly456Arg)	CYP24A1 (G456R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 338813	NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu)	CYP24A1 (P454L)	Single nucleotide variant (missense 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)	not provided +1 more	GConflicting classifications of pathogenicity
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 931571	NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)	CYP24A1 (R439C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 3362760	NM_000782.5(CYP24A1):c.1238C>A (p.Thr413Lys)	CYP24A1 (T413K)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1	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 1921724	NM_000782.5(CYP24A1):c.1236+13T>C	CYP24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652421	NM_000782.5(CYP24A1):c.1236A>G (p.Gly412=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 29680	NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)	CYP24A1 (L409S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2420062	NM_000782.5(CYP24A1):c.1191T>A (p.Thr397=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1914788	NM_000782.5(CYP24A1):c.1171_1174dup (p.Pro392fs)	CYP24A1 (P392fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 897433	NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=)	CYP24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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