DHCR24[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 297612	NM_014762.4(DHCR24):c.*2555A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297613	NM_014762.4(DHCR24):c.*2554C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297614	NM_014762.4(DHCR24):c.*2514A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297615	NM_014762.4(DHCR24):c.*2503C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875989	NM_014762.4(DHCR24):c.*2468T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297616	NM_014762.4(DHCR24):c.*2442G>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 876970	NM_014762.4(DHCR24):c.*2394A>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297617	NM_014762.4(DHCR24):c.*2295G>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297618	NM_014762.4(DHCR24):c.*2245A>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 876971	NM_014762.4(DHCR24):c.*2200G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297619	NM_014762.4(DHCR24):c.*2119C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 876972	NM_014762.4(DHCR24):c.*2084G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 876973	NM_014762.4(DHCR24):c.*2081G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297620	NM_014762.4(DHCR24):c.*2080C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 874180	NM_014762.4(DHCR24):c.*2038G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297621	NM_014762.4(DHCR24):c.*1965C>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297622	NM_014762.4(DHCR24):c.*1881G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 874181	NM_014762.4(DHCR24):c.*1876T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297623	NM_014762.4(DHCR24):c.*1824T>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 874182	NM_014762.4(DHCR24):c.*1815A>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297624	NM_014762.4(DHCR24):c.*1677T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297625	NM_014762.4(DHCR24):c.*1584T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 875112	NM_014762.4(DHCR24):c.*1535G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297626	NM_014762.4(DHCR24):c.*1489G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297627	NM_014762.4(DHCR24):c.*1488C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297628	NM_014762.4(DHCR24):c.*1424C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875113	NM_014762.4(DHCR24):c.*1389T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875114	NM_014762.4(DHCR24):c.*1267G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297629	NM_014762.4(DHCR24):c.*1264T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 876062	NM_014762.4(DHCR24):c.*1137G>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297630	NM_014762.4(DHCR24):c.*1121A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 876063	NM_014762.4(DHCR24):c.*1073C>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 876064	NM_014762.4(DHCR24):c.*984G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297631	NM_014762.4(DHCR24):c.*944C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297632	NM_014762.4(DHCR24):c.*914G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297633	NM_014762.4(DHCR24):c.*913C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297634	NM_014762.4(DHCR24):c.*788A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297635	NM_014762.4(DHCR24):c.*731T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297636	NM_014762.4(DHCR24):c.*718G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 877020	NM_014762.4(DHCR24):c.*676C>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297637	NM_014762.4(DHCR24):c.*653G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 877021	NM_014762.4(DHCR24):c.*600G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 877022	NM_014762.4(DHCR24):c.*597T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297638	NM_014762.4(DHCR24):c.*577C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297639	NM_014762.4(DHCR24):c.*508T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297640	NM_014762.4(DHCR24):c.*480C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297641	NM_014762.4(DHCR24):c.*462G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297642	NM_014762.4(DHCR24):c.*434A>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 874233	NM_014762.4(DHCR24):c.*426G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297643	NM_014762.4(DHCR24):c.*393G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297644	NM_014762.4(DHCR24):c.*392C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297645	NM_014762.4(DHCR24):c.*324T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297646	NM_014762.4(DHCR24):c.*316T>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875158	NM_014762.4(DHCR24):c.*278G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297647	NM_014762.4(DHCR24):c.*225T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297648	NM_014762.4(DHCR24):c.*221C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis +1 more	GBenign
Select item 875159	NM_014762.4(DHCR24):c.*218C>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 297649	NM_014762.4(DHCR24):c.180_181del	DHCR24	Deletion (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297650	NM_014762.4(DHCR24):c.*172A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875160	NM_014762.4(DHCR24):c.*125A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875161	NM_014762.4(DHCR24):c.*115C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297651	NM_014762.4(DHCR24):c.*102C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297652	NM_014762.4(DHCR24):c.*42G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297653	NM_014762.4(DHCR24):c.*27dup	DHCR24	Duplication (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 1359625	NM_014762.4(DHCR24):c.1539C>T (p.Ala513=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807404	NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr)	DHCR24 (C511Y)	Single nucleotide variant (missense variant)	Desmosterolosis	GLikely pathogenic
Select item 1553970	NM_014762.4(DHCR24):c.1524C>T (p.Asp508=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719707	NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn)	DHCR24 (D508N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1990478	NM_014762.4(DHCR24):c.1521C>T (p.Tyr507=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919040	NM_014762.4(DHCR24):c.1512C>T (p.Pro504=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714014	NM_014762.4(DHCR24):c.1506C>T (p.Ala502=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807405	NM_014762.4(DHCR24):c.1504G>A (p.Ala502Thr)	DHCR24 (A502T)	Single nucleotide variant (missense variant)	Desmosterolosis	GLikely pathogenic
Select item 750769	NM_014762.4(DHCR24):c.1503C>T (p.Asp501=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522798	NM_014762.4(DHCR24):c.1481G>A (p.Arg494Gln)	DHCR24 (R494Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 828023	NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter)	DHCR24 (R494*)	Single nucleotide variant (nonsense)	Desmosterolosis	GUncertain significance
Select item 1187094	NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp)	DHCR24 (G487D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1473451	NM_014762.4(DHCR24):c.1454T>C (p.Phe485Ser)	DHCR24 (F485S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966827	NM_014762.4(DHCR24):c.1452G>A (p.Met484Ile)	DHCR24 (M484I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30578	NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys)	DHCR24 (E480K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2080113	NM_014762.4(DHCR24):c.1433G>A (p.Arg478Gln)	DHCR24 (R478Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876126	NM_014762.4(DHCR24):c.1431C>T (p.Asn477=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis	GUncertain significance
Select item 2070137	NM_014762.4(DHCR24):c.1416C>T (p.Ala472=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789428	NM_014762.4(DHCR24):c.1413T>C (p.Tyr471=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4367	NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser)	DHCR24 (Y471S)	Single nucleotide variant (missense variant)	Desmosterolosis	GPathogenic
Select item 1996747	NM_014762.4(DHCR24):c.1398-13T>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998930	NM_014762.4(DHCR24):c.1398-16T>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226311	NM_014762.4(DHCR24):c.1398-49G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221447	NM_014762.4(DHCR24):c.1398-287A>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229729	NM_014762.4(DHCR24):c.1397+244dup	DHCR24	Duplication (intron variant)	not provided	GBenign
Select item 1190564	NM_014762.4(DHCR24):c.1397+245C>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178918	NM_014762.4(DHCR24):c.1397+99A>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911569	NM_014762.4(DHCR24):c.1397+19_1397+23del	DHCR24	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2968906	NM_014762.4(DHCR24):c.1397+15G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642978	NM_014762.4(DHCR24):c.1397+13G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 632111	NM_014762.4(DHCR24):c.1397+2T>A	DHCR24	Single nucleotide variant (splice donor variant)	Desmosterolosis	GUncertain significance

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