ClinVar for Gene (Select 1718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356161	NM_014762.4(DHCR24):c.78G>C (p.Val26=)	DHCR24	Single nucleotide variant (synonymous variant)	DHCR24-related disorder	GLikely benign
Select item 3335987	NC_000001.10:g.(55341721_55349290)_(55352869_?)dup	DHCR24	Duplication	not specified	GUncertain significance
Select item 3271767	NM_014762.4(DHCR24):c.221T>C (p.Ile74Thr)	DHCR24 (I74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271766	NM_014762.4(DHCR24):c.602G>A (p.Arg201Gln)	DHCR24 (R201Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082010	NM_014762.4(DHCR24):c.865G>C (p.Glu289Gln)	DHCR24 (E289Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082008	NM_014762.4(DHCR24):c.721C>T (p.Arg241Cys)	DHCR24 (R241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3082007	NM_014762.4(DHCR24):c.519C>G (p.Ile173Met)	DHCR24 (I173M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082006	NM_014762.4(DHCR24):c.392T>C (p.Val131Ala)	DHCR24 (V131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3016091	NM_014762.4(DHCR24):c.1146C>T (p.His382=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011264	NM_014762.4(DHCR24):c.1269A>G (p.Leu423=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005328	NM_014762.4(DHCR24):c.876+19T>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003082	NM_014762.4(DHCR24):c.877-16C>T	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 2997735	NM_014762.4(DHCR24):c.1239T>C (p.Cys413=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981075	NM_014762.4(DHCR24):c.493+10C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977183	NM_014762.4(DHCR24):c.1096C>T (p.Leu366=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972436	NM_014762.4(DHCR24):c.1219-14C>T	DHCR24	Single nucleotide variant (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 2966362	NM_014762.4(DHCR24):c.1021-20C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956523	NM_014762.4(DHCR24):c.726C>T (p.Phe242=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909804	NM_014762.4(DHCR24):c.519C>T (p.Ile173=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904298	NM_014762.4(DHCR24):c.678C>T (p.Ala226=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902110	NM_014762.4(DHCR24):c.462C>T (p.Pro154=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901238	NM_014762.4(DHCR24):c.736C>A (p.Arg246=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895847	NM_014762.4(DHCR24):c.1194G>C (p.Leu398=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881483	NM_014762.4(DHCR24):c.613-19C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879339	NM_014762.4(DHCR24):c.580C>T (p.Leu194=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861190	NM_014762.4(DHCR24):c.395G>A (p.Arg132His)	DHCR24 (R132H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839678	NM_014762.4(DHCR24):c.618A>G (p.Glu206=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835686	NM_014762.4(DHCR24):c.628C>T (p.Leu210=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821142	NM_014762.4(DHCR24):c.876+20G>A	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819944	NM_014762.4(DHCR24):c.135C>T (p.Ile45=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812852	NM_014762.4(DHCR24):c.1083C>G (p.Pro361=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789015	NM_014762.4(DHCR24):c.313G>A (p.Gly105Arg)	DHCR24 (G105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781741	NM_014762.4(DHCR24):c.1122G>A (p.Leu374=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767321	NM_014762.4(DHCR24):c.1128G>A (p.Lys376=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764722	NM_014762.4(DHCR24):c.359A>G (p.Asp120Gly)	DHCR24 (D120G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 2638839	NM_014762.4(DHCR24):c.1152G>A (p.Val384=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604175	NM_014762.4(DHCR24):c.665G>T (p.Gly222Val)	DHCR24 (G222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2509432	NM_014762.4(DHCR24):c.1033T>C (p.Phe345Leu)	DHCR24 (F345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485910	NM_014762.4(DHCR24):c.1178G>T (p.Cys393Phe)	DHCR24 (C393F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480441	NM_014762.4(DHCR24):c.1219G>A (p.Val407Ile)	DHCR24 (V407I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475029	NM_014762.4(DHCR24):c.1349C>T (p.Ala450Val)	DHCR24 (A450V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425971	NC_000001.10:g.(?_55223407)_(55352792_?)dup	CIMAP2, DHCR24 +2 more	Duplication	not provided	GUncertain significance
Select item 2416375	NM_014762.4(DHCR24):c.736C>T (p.Arg246Trp)	DHCR24 (R246W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416186	NM_014762.4(DHCR24):c.57C>T (p.Arg19=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414113	NM_014762.4(DHCR24):c.126C>G (p.Leu42=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353384	NM_014762.4(DHCR24):c.1124G>T (p.Arg375Leu)	DHCR24 (R375L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303401	NM_014762.4(DHCR24):c.635A>C (p.Tyr212Ser)	DHCR24 (Y212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261404	NM_014762.4(DHCR24):c.1076T>C (p.Val359Ala)	DHCR24 (V359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231886	NM_014762.4(DHCR24):c.782G>A (p.Arg261Gln)	DHCR24 (R261Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231161	NM_014762.4(DHCR24):c.826G>A (p.Glu276Lys)	DHCR24 (E276K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187916	NM_014762.4(DHCR24):c.849C>G (p.Val283=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185876	NM_014762.4(DHCR24):c.1262C>T (p.Pro421Leu)	DHCR24 (P421L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184959	NM_014762.4(DHCR24):c.906G>A (p.Pro302=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172435	NM_014762.4(DHCR24):c.688C>T (p.Arg230Cys)	DHCR24 (R230C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2171230	NM_014762.4(DHCR24):c.266T>A (p.Phe89Tyr)	DHCR24 (F89Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167009	NM_014762.4(DHCR24):c.394C>T (p.Arg132Cys)	DHCR24 (R132C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112561	NM_014762.4(DHCR24):c.912C>T (p.Phe304=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107861	NM_014762.4(DHCR24):c.673G>T (p.Val225Leu)	DHCR24 (V225L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103333	NM_014762.4(DHCR24):c.740G>A (p.Gly247Asp)	DHCR24 (G247D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101937	NM_014762.4(DHCR24):c.362T>C (p.Ile121Thr)	DHCR24 (I121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101062	NM_014762.4(DHCR24):c.967C>A (p.Pro323Thr)	DHCR24 (P323T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096057	NM_014762.4(DHCR24):c.997C>T (p.Arg333Cys)	DHCR24 (R333C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095589	NM_014762.4(DHCR24):c.1328C>T (p.Pro443Leu)	DHCR24 (P443L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094968	NM_014762.4(DHCR24):c.1165G>A (p.Val389Met)	DHCR24 (V389M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083631	NM_014762.4(DHCR24):c.250C>G (p.Gln84Glu)	DHCR24 (Q84E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2070137	NM_014762.4(DHCR24):c.1416C>T (p.Ala472=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068407	NM_014762.4(DHCR24):c.1242G>A (p.Pro414=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056714	NM_014762.4(DHCR24):c.877-14C>T	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052823	NM_014762.4(DHCR24):c.727G>A (p.Glu243Lys)	DHCR24 (E243K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046014	NM_014762.4(DHCR24):c.1309A>G (p.Ile437Val)	DHCR24 (I437V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043662	NM_014762.4(DHCR24):c.10G>A (p.Ala4Thr)	DHCR24 (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033595	NM_014762.4(DHCR24):c.75C>T (p.Phe25=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019344	NM_014762.4(DHCR24):c.1371G>A (p.Leu457=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015590	NM_014762.4(DHCR24):c.689G>T (p.Arg230Leu)	DHCR24 (R230L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001395	NM_014762.4(DHCR24):c.1021-7T>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996747	NM_014762.4(DHCR24):c.1398-13T>C	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990478	NM_014762.4(DHCR24):c.1521C>T (p.Tyr507=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990338	NM_014762.4(DHCR24):c.1113T>G (p.Gly371=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984307	NM_014762.4(DHCR24):c.495G>A (p.Gly165=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980550	NM_014762.4(DHCR24):c.1369C>A (p.Leu457Met)	DHCR24 (L457M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1979149	NM_014762.4(DHCR24):c.465G>A (p.Val155=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979138	NM_014762.4(DHCR24):c.737G>A (p.Arg246Gln)	DHCR24 (R246Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1975610	NM_014762.4(DHCR24):c.24C>T (p.Ala8=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974350	NM_014762.4(DHCR24):c.1031C>A (p.Pro344His)	DHCR24 (P344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970127	NM_014762.4(DHCR24):c.722G>A (p.Arg241His)	DHCR24 (R241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1954227	NM_014762.4(DHCR24):c.689G>A (p.Arg230His)	DHCR24 (R230H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947807	NM_014762.4(DHCR24):c.859G>A (p.Glu287Lys)	DHCR24 (E287K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945877	NM_014762.4(DHCR24):c.995C>T (p.Thr332Met)	DHCR24 (T332M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941855	NM_014762.4(DHCR24):c.232-13C>G	DHCR24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941854	NM_014762.4(DHCR24):c.1194G>A (p.Leu398=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938918	NM_014762.4(DHCR24):c.1017C>G (p.Leu339=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937938	NM_014762.4(DHCR24):c.847G>T (p.Val283Phe)	DHCR24 (V283F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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