10269[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 140503	NM_005857.3(ZMPSTE24):c.-1269C>G	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140502	NM_005857.3(ZMPSTE24):c.-1149G>A	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140508	NM_005857.3(ZMPSTE24):c.-954G>C	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140507	NM_005857.3(ZMPSTE24):c.-522C>G	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140506	NM_005857.3(ZMPSTE24):c.-370G>T	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140505	NM_005857.3(ZMPSTE24):c.-326G>A	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	GBenign
Select item 1274598	NC_000001.11:g.40257972C>T	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	GBenign
Select item 140504	NM_005857.4(ZMPSTE24):c.-194A>G	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 297253	NM_005857.4(ZMPSTE24):c.-185C>G	LOC129930252, ZMPSTE24	Single nucleotide variant	Mandibuloacral dysplasia +1 more	GUncertain significance
Select item 297254	NM_005857.4(ZMPSTE24):c.-181A>G	LOC129930252, ZMPSTE24	Single nucleotide variant	Mandibuloacral dysplasia +1 more	GUncertain significance
Select item 297255	NM_005857.4(ZMPSTE24):c.-172A>C	ZMPSTE24	Single nucleotide variant	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297256	NM_005857.4(ZMPSTE24):c.-55C>G	LOC129930253, ZMPSTE24	Single nucleotide variant	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297257	NM_005857.4(ZMPSTE24):c.-46G>A	LOC129930253, ZMPSTE24	Single nucleotide variant	Mandibuloacral dysplasia +1 more	GUncertain significance
Select item 297258	NM_005857.5(ZMPSTE24):c.-13G>A	LOC129930253, ZMPSTE24	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 437336	NM_005857.5(ZMPSTE24):c.8T>C (p.Met3Thr)	LOC129930253, ZMPSTE24 (M3T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2975226	NM_005857.5(ZMPSTE24):c.15A>C (p.Ala5=)	LOC129930253, ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2468970	NM_005857.5(ZMPSTE24):c.17C>T (p.Ser6Leu)	LOC129930253, ZMPSTE24 (S6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707844	NM_005857.5(ZMPSTE24):c.19C>T (p.Leu7=)	LOC129930253, ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711294	NM_005857.5(ZMPSTE24):c.28_29insA (p.Leu10fs)	LOC129930253, ZMPSTE24 (L10fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 297259	NM_005857.5(ZMPSTE24):c.30G>T (p.Leu10Phe)	LOC129930253, ZMPSTE24 (L10F)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +2 more	GUncertain significance
Select item 752460	NM_005857.5(ZMPSTE24):c.42G>A (p.Pro14=)	LOC129930253, ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 41411	NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs)	LOC129930253, ZMPSTE24 (K17fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 875987	NM_005857.5(ZMPSTE24):c.52C>T (p.Arg18Cys)	LOC129930253, ZMPSTE24 (R18C)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 30584	NM_005857.5(ZMPSTE24):c.54dup (p.Ile19fs)	LOC129930253, ZMPSTE24 (I19fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2197489	NM_005857.5(ZMPSTE24):c.58T>A (p.Phe20Ile)	LOC129930253, ZMPSTE24 (F20I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958211	NM_005857.5(ZMPSTE24):c.60C>T (p.Phe20=)	LOC129930253, ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930831	NM_005857.5(ZMPSTE24):c.87A>G (p.Thr29=)	LOC129930253, ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050422	NM_005857.5(ZMPSTE24):c.95T>G (p.Leu32Arg)	LOC129930253, ZMPSTE24 (L32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386379	NM_005857.5(ZMPSTE24):c.104C>A (p.Thr35Asn)	LOC129930253, ZMPSTE24 (T35N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4274	NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter)	LOC129930253, ZMPSTE24 (Q41*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 1540585	NM_005857.5(ZMPSTE24):c.123+8T>C	LOC129930253, ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226437	NM_005857.5(ZMPSTE24):c.124-266del	ZMPSTE24	Deletion (intron variant)	not provided	GBenign
Select item 140515	NM_005857.5(ZMPSTE24):c.124-2A>C	ZMPSTE24	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1424815	NM_005857.5(ZMPSTE24):c.134A>G (p.Tyr45Cys)	ZMPSTE24 (Y45C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1482720	NM_005857.5(ZMPSTE24):c.159G>A (p.Pro53=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2243914	NM_005857.5(ZMPSTE24):c.161A>C (p.Glu54Ala)	ZMPSTE24 (E54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463457	NM_005857.5(ZMPSTE24):c.173T>C (p.Ile58Thr)	ZMPSTE24 (I58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192618	NM_005857.5(ZMPSTE24):c.202C>T (p.Arg68Ter)	ZMPSTE24 (R68*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 140521	NM_005857.5(ZMPSTE24):c.207_208del (p.Tyr70fs)	ZMPSTE24 (Y70fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 140522	NM_005857.5(ZMPSTE24):c.209_210del (p.Tyr70fs)	ZMPSTE24 (Y70fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 297260	NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 721469	NM_005857.5(ZMPSTE24):c.243A>G (p.Ser81=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514530	NM_005857.5(ZMPSTE24):c.260C>T (p.Thr87Ile)	ZMPSTE24 (T87I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1662655	NM_005857.5(ZMPSTE24):c.270+8A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 140523	NM_005857.5(ZMPSTE24):c.281T>C (p.Leu94Pro)	ZMPSTE24 (L94P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 140524	NM_005857.5(ZMPSTE24):c.296del (p.Pro99fs)	ZMPSTE24 (P99fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 1931205	NM_005857.5(ZMPSTE24):c.319C>T (p.Arg107Trp)	ZMPSTE24 (R107W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130790	NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly)	ZMPSTE24 (C109G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3004532	NM_005857.5(ZMPSTE24):c.357+19T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 140525	NM_005857.5(ZMPSTE24):c.357+114A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181461	NM_005857.5(ZMPSTE24):c.358-23T>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078747	NM_005857.5(ZMPSTE24):c.358-11C>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741669	NM_005857.5(ZMPSTE24):c.358-7T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977432	NM_005857.5(ZMPSTE24):c.358-6G>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016268	NM_005857.5(ZMPSTE24):c.358A>G (p.Ile120Val)	ZMPSTE24 (I120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574559	NM_005857.5(ZMPSTE24):c.384G>C (p.Leu128=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919705	NM_005857.5(ZMPSTE24):c.395T>C (p.Leu132Pro)	ZMPSTE24 (L132P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 140526	NM_005857.5(ZMPSTE24):c.401del (p.Ser134fs)	ZMPSTE24 (S134fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 1905122	NM_005857.5(ZMPSTE24):c.431A>G (p.Tyr144Cys)	ZMPSTE24 (Y144C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729079	NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +2 more	GBenign/Likely benign
Select item 876968	NM_005857.5(ZMPSTE24):c.467A>G (p.Asn156Ser)	ZMPSTE24 (N156S)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia with type B lipodystrophy +1 more	GUncertain significance
Select item 874176	NM_005857.5(ZMPSTE24):c.474G>A (p.Gln158=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 1898499	NM_005857.5(ZMPSTE24):c.474+15A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929586	NM_005857.5(ZMPSTE24):c.474+18A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 140527	NM_005857.5(ZMPSTE24):c.474+83A>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228648	NM_005857.5(ZMPSTE24):c.474+194C>T	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278847	NM_005857.5(ZMPSTE24):c.475-175A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140528	NM_005857.5(ZMPSTE24):c.475-2A>G	ZMPSTE24	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2026864	NM_005857.5(ZMPSTE24):c.498T>G (p.Asp166Glu)	ZMPSTE24 (D166E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3193747	NM_005857.5(ZMPSTE24):c.517G>T (p.Val173Leu)	ZMPSTE24 (V173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709555	NM_005857.5(ZMPSTE24):c.533T>A (p.Leu178Ter)	ZMPSTE24 (L178*)	Single nucleotide variant (nonsense)	Lethal tight skin contracture syndrome	GPathogenic
Select item 724164	NM_005857.5(ZMPSTE24):c.535T>C (p.Leu179=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1504997	NM_005857.5(ZMPSTE24):c.544T>G (p.Ser182Ala)	ZMPSTE24 (S182A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297261	NM_005857.5(ZMPSTE24):c.555A>G (p.Leu185=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 591308	NM_005857.5(ZMPSTE24):c.574G>A (p.Gly192Arg)	ZMPSTE24 (G192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41412	NM_005857.5(ZMPSTE24):c.584_585del (p.Tyr195fs)	ZMPSTE24 (Y195fs)	Deletion (frameshift variant)	Lethal tight skin contracture syndrome	GPathogenic
Select item 30585	NM_005857.5(ZMPSTE24):c.591dup (p.Ile198fs)	ZMPSTE24 (I198fs)	Duplication (frameshift variant)	Lethal tight skin contracture syndrome	GPathogenic
Select item 3193748	NM_005857.5(ZMPSTE24):c.591T>A (p.Phe197Leu)	ZMPSTE24 (F197L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 140530	NM_005857.5(ZMPSTE24):c.592_593del (p.Ile198fs)	ZMPSTE24 (I198fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 1480494	NM_005857.5(ZMPSTE24):c.609C>G (p.Phe203Leu)	ZMPSTE24 (F203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 140532	NM_005857.5(ZMPSTE24):c.627+1G>C	ZMPSTE24	Single nucleotide variant (splice donor variant)	Lethal tight skin contracture syndrome	GPathogenic
Select item 2851729	NM_005857.5(ZMPSTE24):c.627+14_627+15insC	ZMPSTE24	Insertion (intron variant)	not provided	GLikely benign
Select item 2851730	NM_005857.5(ZMPSTE24):c.627+15T>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 140531	NM_005857.5(ZMPSTE24):c.627+18T>G	ZMPSTE24	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1631516	NM_005857.5(ZMPSTE24):c.627+20C>T	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287606	NM_005857.5(ZMPSTE24):c.627+296T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140535	NM_005857.5(ZMPSTE24):c.628-50T>G	ZMPSTE24	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 140534	NM_005857.5(ZMPSTE24):c.628-50T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2870681	NM_005857.5(ZMPSTE24):c.628-14C>T	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 140533	NM_005857.5(ZMPSTE24):c.628-2A>G	ZMPSTE24	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 497759	NM_005857.5(ZMPSTE24):c.644A>G (p.Tyr215Cys)	ZMPSTE24 (Y215C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95316	NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1385142	NM_005857.5(ZMPSTE24):c.652T>G (p.Tyr218Asp)	ZMPSTE24 (Y218D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 140536	NM_005857.5(ZMPSTE24):c.691G>T (p.Glu231Ter)	ZMPSTE24 (E231*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 140537	NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter)	ZMPSTE24 (E237*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2212899	NM_005857.5(ZMPSTE24):c.712A>G (p.Ile238Val)	ZMPSTE24 (I238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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