"GeneDx"[submitter] AND "DHCR24"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	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 297648	NM_014762.4(DHCR24):c.*221C>T	DHCR24	Single nucleotide variant (3 prime UTR variant)	not provided +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 1187094	NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp)	DHCR24 (G487D)	Single nucleotide variant (missense variant)	Desmosterolosis +1 more	GUncertain significance
Select item 30578	NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys)	DHCR24 (E480K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1196027	NM_014762.4(DHCR24):c.1219-143G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1065507	NM_014762.4(DHCR24):c.1218+1G>A	DHCR24	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 297654	NM_014762.4(DHCR24):c.1026T>C (p.Ile342=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1242729	NM_014762.4(DHCR24):c.1021-29del	DHCR24	Deletion (intron variant)	not provided	GBenign
Select item 1200726	NM_014762.4(DHCR24):c.1021-67C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243767	NM_014762.4(DHCR24):c.1020+270G>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234755	NM_014762.4(DHCR24):c.1020+220C>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 297656	NM_014762.4(DHCR24):c.1020+10A>G	DHCR24	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1219166	NM_014762.4(DHCR24):c.877-179C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278679	NM_014762.4(DHCR24):c.876+73G>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207246	NM_014762.4(DHCR24):c.876+49T>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228606	NM_014762.4(DHCR24):c.613-29G>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244437	NM_014762.4(DHCR24):c.613-94T>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222927	NM_014762.4(DHCR24):c.613-160A>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276778	NM_014762.4(DHCR24):c.613-254A>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273718	NM_014762.4(DHCR24):c.494-222G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211069	NM_014762.4(DHCR24):c.494-236G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195773	NM_014762.4(DHCR24):c.494-310T>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208083	NM_014762.4(DHCR24):c.493+323C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178435	NM_014762.4(DHCR24):c.493+264C>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218371	NM_014762.4(DHCR24):c.493+222T>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194867	NM_014762.4(DHCR24):c.493+96G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310018	NM_014762.4(DHCR24):c.463G>A (p.Val155Met)	DHCR24 (V155M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2663220	NM_014762.4(DHCR24):c.417G>A (p.Met139Ile)	DHCR24 (M139I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260254	NM_014762.4(DHCR24):c.388-195A>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297848	NM_014762.4(DHCR24):c.388-332G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208675	NM_014762.4(DHCR24):c.232-135A>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237490	NM_014762.4(DHCR24):c.231+253G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261583	NM_014762.4(DHCR24):c.231+165T>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220463	NM_014762.4(DHCR24):c.231+37G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 297664	NM_014762.4(DHCR24):c.180C>T (p.Leu60=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1326716	NC_000001.11:g.54887258C>G	DHCR24	Single nucleotide variant	not provided	GLikely benign
Select item 1271291	NC_000001.11:g.54887409C>G	DHCR24	Single nucleotide variant	not provided	GBenign
Select item 1215624	NC_000001.11:g.54887416C>T	DHCR24	Single nucleotide variant	not provided	GLikely benign

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Items: 46