ClinVar for MedGen (Select 400801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1439868	NM_014762.4(DHCR24):c.1331G>A (p.Arg444His)	DHCR24 (R444H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310018	NM_014762.4(DHCR24):c.463G>A (p.Val155Met)	DHCR24 (V155M)	Single nucleotide variant (missense variant)	Desmosterolosis +1 more	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 1184322	NM_014762.4(DHCR24):c.286G>C (p.Gly96Arg)	DHCR24 (G96R)	Single nucleotide variant (missense variant)	Desmosterolosis	GUncertain significance
Select item 1027890	NM_014762.4(DHCR24):c.958G>T (p.Glu320Ter)	DHCR24 (E320*)	Single nucleotide variant (nonsense)	Desmosterolosis	GLikely pathogenic
Select item 877073	NM_014762.4(DHCR24):c.718C>T (p.Leu240=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis +1 more	GConflicting classifications of pathogenicity
Select item 877022	NM_014762.4(DHCR24):c.*597T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 877021	NM_014762.4(DHCR24):c.*600G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 877020	NM_014762.4(DHCR24):c.*676C>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 876973	NM_014762.4(DHCR24):c.*2081G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 876972	NM_014762.4(DHCR24):c.*2084G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 876971	NM_014762.4(DHCR24):c.*2200G>A	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 876129	NM_014762.4(DHCR24):c.1155G>A (p.Gln385=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis	GUncertain significance
Select item 876128	NM_014762.4(DHCR24):c.1228A>G (p.Ile410Val)	DHCR24 (I410V)	Single nucleotide variant (missense variant)	Desmosterolosis	GUncertain significance
Select item 876127	NM_014762.4(DHCR24):c.1329G>A (p.Pro443=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis	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 876064	NM_014762.4(DHCR24):c.*984G>A	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 876062	NM_014762.4(DHCR24):c.*1137G>C	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 875218	NM_014762.4(DHCR24):c.-62G>A	DHCR24	Single nucleotide variant (5 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 875217	NM_014762.4(DHCR24):c.-27G>C	DHCR24	Single nucleotide variant (5 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 875160	NM_014762.4(DHCR24):c.*125A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
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 875158	NM_014762.4(DHCR24):c.*278G>A	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 875113	NM_014762.4(DHCR24):c.*1389T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 875112	NM_014762.4(DHCR24):c.*1535G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 874282	NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys)	DHCR24 (E206K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874233	NM_014762.4(DHCR24):c.*426G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 874182	NM_014762.4(DHCR24):c.*1815A>T	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 874180	NM_014762.4(DHCR24):c.*2038G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 828024	NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs)	DHCR24 (F415fs)	Insertion (frameshift variant)	Desmosterolosis	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 807405	NM_014762.4(DHCR24):c.1504G>A (p.Ala502Thr)	DHCR24 (A502T)	Single nucleotide variant (missense variant)	Desmosterolosis	GLikely pathogenic
Select item 807404	NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr)	DHCR24 (C511Y)	Single nucleotide variant (missense variant)	Desmosterolosis	GLikely pathogenic
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 632111	NM_014762.4(DHCR24):c.1397+2T>A	DHCR24	Single nucleotide variant (splice donor variant)	Desmosterolosis	GUncertain significance
Select item 560988	NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser)	DHCR24 (L167S)	Single nucleotide variant (missense variant)	Desmosterolosis	GUncertain significance
Select item 297669	NM_014762.3(DHCR24):c.-77C>T	DHCR24	Single nucleotide variant	Desmosterolosis	GUncertain significance
Select item 297668	NM_014762.4(DHCR24):c.-51G>T	DHCR24	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297667	NM_014762.4(DHCR24):c.-42A>G	DHCR24	Single nucleotide variant (5 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297666	NM_014762.4(DHCR24):c.-27G>T	DHCR24	Single nucleotide variant (5 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297665	NM_014762.4(DHCR24):c.-11G>A	DHCR24	Single nucleotide variant (5 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297664	NM_014762.4(DHCR24):c.180C>T (p.Leu60=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis +1 more	GBenign/Likely benign
Select item 297663	NM_014762.4(DHCR24):c.360C>T (p.Asp120=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis +1 more	GBenign/Likely benign
Select item 297662	NM_014762.4(DHCR24):c.388-10G>T	DHCR24	Single nucleotide variant (intron variant)	Desmosterolosis	GUncertain significance
Select item 297661	NM_014762.4(DHCR24):c.615C>T (p.Ser205=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297660	NM_014762.4(DHCR24):c.639C>T (p.Ala213=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 297659	NM_014762.4(DHCR24):c.712G>A (p.Val238Ile)	DHCR24 (V238I)	Single nucleotide variant (missense variant)	Desmosterolosis +1 more	GUncertain significance
Select item 297658	NM_014762.4(DHCR24):c.726C>A (p.Phe242Leu)	DHCR24 (F242L)	Single nucleotide variant (missense variant)	DHCR24-related condition +2 more	GConflicting classifications of pathogenicity
Select item 297657	NM_014762.4(DHCR24):c.798C>T (p.Phe266=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis	GUncertain significance
Select item 297656	NM_014762.4(DHCR24):c.1020+10A>G	DHCR24	Single nucleotide variant (intron variant)	Desmosterolosis +1 more	GBenign
Select item 297655	NM_014762.4(DHCR24):c.1020+11G>A	DHCR24	Single nucleotide variant (intron variant)	Desmosterolosis	GLikely benign
Select item 297654	NM_014762.4(DHCR24):c.1026T>C (p.Ile342=)	DHCR24	Single nucleotide variant (synonymous variant)	Desmosterolosis +1 more	GBenign
Select item 297653	NM_014762.4(DHCR24):c.*27dup	DHCR24	Duplication (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297652	NM_014762.4(DHCR24):c.*42G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297651	NM_014762.4(DHCR24):c.*102C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297650	NM_014762.4(DHCR24):c.*172A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297649	NM_014762.4(DHCR24):c.180_181del	DHCR24	Deletion (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 297647	NM_014762.4(DHCR24):c.*225T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297646	NM_014762.4(DHCR24):c.*316T>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297645	NM_014762.4(DHCR24):c.*324T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297644	NM_014762.4(DHCR24):c.*392C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297643	NM_014762.4(DHCR24):c.*393G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297642	NM_014762.4(DHCR24):c.*434A>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297641	NM_014762.4(DHCR24):c.*462G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297640	NM_014762.4(DHCR24):c.*480C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297639	NM_014762.4(DHCR24):c.*508T>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 297637	NM_014762.4(DHCR24):c.*653G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297636	NM_014762.4(DHCR24):c.*718G>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297635	NM_014762.4(DHCR24):c.*731T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297634	NM_014762.4(DHCR24):c.*788A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297633	NM_014762.4(DHCR24):c.*913C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297632	NM_014762.4(DHCR24):c.*914G>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 297630	NM_014762.4(DHCR24):c.*1121A>G	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 297628	NM_014762.4(DHCR24):c.*1424C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297627	NM_014762.4(DHCR24):c.*1488C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
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 297625	NM_014762.4(DHCR24):c.*1584T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297624	NM_014762.4(DHCR24):c.*1677T>C	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297623	NM_014762.4(DHCR24):c.*1824T>G	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 297621	NM_014762.4(DHCR24):c.*1965C>A	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign
Select item 297620	NM_014762.4(DHCR24):c.*2080C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297619	NM_014762.4(DHCR24):c.*2119C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297618	NM_014762.4(DHCR24):c.*2245A>T	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 297616	NM_014762.4(DHCR24):c.*2442G>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297615	NM_014762.4(DHCR24):c.*2503C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297614	NM_014762.4(DHCR24):c.*2514A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GUncertain significance
Select item 297613	NM_014762.4(DHCR24):c.*2554C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GLikely benign
Select item 297612	NM_014762.4(DHCR24):c.*2555A>G	DHCR24	Single nucleotide variant (3 prime UTR variant)	Desmosterolosis	GBenign

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