ClinVar for Gene (Select 10269) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379582	NM_005857.5(ZMPSTE24):c.910A>C (p.Asn304His)	ZMPSTE24 (N304H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353085	NM_005857.5(ZMPSTE24):c.1040A>G (p.Lys347Arg)	ZMPSTE24 (K347R)	Single nucleotide variant (missense variant)	ZMPSTE24-related disorder	GUncertain significance
Select item 3334801	NM_005857.5(ZMPSTE24):c.203G>A (p.Arg68Gln)	ZMPSTE24 (R68Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334800	NM_005857.5(ZMPSTE24):c.1294T>C (p.Tyr432His)	ZMPSTE24 (Y432H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334799	NM_005857.5(ZMPSTE24):c.816C>G (p.Phe272Leu)	ZMPSTE24 (F272L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334798	NM_005857.5(ZMPSTE24):c.1384C>G (p.Leu462Val)	ZMPSTE24 (L462V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3254941	NM_005857.5(ZMPSTE24):c.1059+2dup	ZMPSTE24	Duplication (splice donor variant)	Restrictive dermopathy 1	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 3193747	NM_005857.5(ZMPSTE24):c.517G>T (p.Val173Leu)	ZMPSTE24 (V173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193745	NM_005857.5(ZMPSTE24):c.1422A>C (p.Gln474His)	ZMPSTE24 (Q474H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193744	NM_005857.5(ZMPSTE24):c.1000G>A (p.Gly334Ser)	ZMPSTE24 (G334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 3020783	NM_005857.5(ZMPSTE24):c.955-7dup	ZMPSTE24	Duplication (intron variant)	not provided	GBenign
Select item 3004532	NM_005857.5(ZMPSTE24):c.357+19T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988635	NM_005857.5(ZMPSTE24):c.955-12T>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985124	NM_005857.5(ZMPSTE24):c.955-17G>T	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981137	NM_005857.5(ZMPSTE24):c.1374T>C (p.Ser458=)	ZMPSTE24	Single nucleotide variant (synonymous 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 2975226	NM_005857.5(ZMPSTE24):c.15A>C (p.Ala5=)	LOC129930253, ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970051	NM_005857.5(ZMPSTE24):c.1059+21_1059+25del	ZMPSTE24	Deletion (intron variant)	not provided	GBenign
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 2870681	NM_005857.5(ZMPSTE24):c.628-14C>T	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854787	NM_005857.5(ZMPSTE24):c.741T>C (p.Phe247=)	ZMPSTE24	Single nucleotide variant (synonymous 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 2851729	NM_005857.5(ZMPSTE24):c.627+14_627+15insC	ZMPSTE24	Insertion (intron variant)	not provided	GLikely benign
Select item 2828120	NM_005857.5(ZMPSTE24):c.1204-2A>G	ZMPSTE24	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2802916	NM_005857.5(ZMPSTE24):c.770-11C>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718404	NM_005857.5(ZMPSTE24):c.918A>G (p.Glu306=)	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 2696744	NM_005857.5(ZMPSTE24):c.1204-19C>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2554276	NM_005857.5(ZMPSTE24):c.875A>G (p.Lys292Arg)	ZMPSTE24 (K292R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2441655	NM_005857.5(ZMPSTE24):c.1133_1137del (p.Gly377_Phe378insTer)	ZMPSTE24	Deletion (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 2266038	NM_005857.5(ZMPSTE24):c.842A>G (p.Asp281Gly)	ZMPSTE24 (D281G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2212899	NM_005857.5(ZMPSTE24):c.712A>G (p.Ile238Val)	ZMPSTE24 (I238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2192618	NM_005857.5(ZMPSTE24):c.202C>T (p.Arg68Ter)	ZMPSTE24 (R68*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2184876	NM_005857.5(ZMPSTE24):c.1235G>A (p.Arg412His)	ZMPSTE24 (R412H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133808	NM_005857.5(ZMPSTE24):c.1204-8T>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128053	NM_005857.5(ZMPSTE24):c.1192C>T (p.Pro398Ser)	ZMPSTE24 (P398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081959	NM_005857.5(ZMPSTE24):c.907C>T (p.Arg303Cys)	ZMPSTE24 (R303C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078747	NM_005857.5(ZMPSTE24):c.358-11C>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051032	NM_005857.5(ZMPSTE24):c.957T>C (p.Asn319=)	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 2042224	NM_005857.5(ZMPSTE24):c.955-7T>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036346	NM_005857.5(ZMPSTE24):c.880A>G (p.Ile294Val)	ZMPSTE24 (I294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2017969	NM_005857.5(ZMPSTE24):c.1321G>A (p.Asp441Asn)	ZMPSTE24 (D441N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1979677	NM_005857.5(ZMPSTE24):c.1381C>T (p.Pro461Ser)	ZMPSTE24 (P461S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953522	NM_005857.5(ZMPSTE24):c.770-13G>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938046	NM_005857.5(ZMPSTE24):c.798T>C (p.Ala266=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931205	NM_005857.5(ZMPSTE24):c.319C>T (p.Arg107Trp)	ZMPSTE24 (R107W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1929586	NM_005857.5(ZMPSTE24):c.474+18A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927113	NM_005857.5(ZMPSTE24):c.770-17A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921207	NM_005857.5(ZMPSTE24):c.955-7del	ZMPSTE24	Deletion (intron variant)	not provided	GBenign
Select item 1920300	NM_005857.5(ZMPSTE24):c.954+17T>G	ZMPSTE24	Single nucleotide variant (intron 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 1913178	NM_005857.5(ZMPSTE24):c.827G>A (p.Arg276Gln)	ZMPSTE24 (R276Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1905058	NM_005857.5(ZMPSTE24):c.997C>A (p.Leu333Ile)	ZMPSTE24 (L333I)	Single nucleotide variant (missense variant)	not provided	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 1808029	GRCh37/hg19 1p34.2(chr1:40758393-41009559)x1	COL9A2, EXO5 +5 more	Copy number loss	not provided	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 1670908	NM_005857.5(ZMPSTE24):c.1059+18A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662655	NM_005857.5(ZMPSTE24):c.270+8A>G	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631516	NM_005857.5(ZMPSTE24):c.627+20C>T	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1596042	NM_005857.5(ZMPSTE24):c.1203+10G>A	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574559	NM_005857.5(ZMPSTE24):c.384G>C (p.Leu128=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540585	NM_005857.5(ZMPSTE24):c.123+8T>C	LOC129930253, ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1523431	NM_005857.5(ZMPSTE24):c.908G>A (p.Arg303His)	ZMPSTE24 (R303H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1504997	NM_005857.5(ZMPSTE24):c.544T>G (p.Ser182Ala)	ZMPSTE24 (S182A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501218	NM_005857.5(ZMPSTE24):c.910A>G (p.Asn304Asp)	ZMPSTE24 (N304D)	Single nucleotide variant (missense variant)	not provided	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 1480494	NM_005857.5(ZMPSTE24):c.609C>G (p.Phe203Leu)	ZMPSTE24 (F203L)	Single nucleotide variant (missense variant)	not provided	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 1457612	NM_005857.5(ZMPSTE24):c.1146A>G (p.Gln382=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424815	NM_005857.5(ZMPSTE24):c.134A>G (p.Tyr45Cys)	ZMPSTE24 (Y45C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1412497	NM_005857.5(ZMPSTE24):c.1019G>A (p.Trp340Ter)	ZMPSTE24 (W340*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1410973	NM_005857.5(ZMPSTE24):c.728A>G (p.Lys243Arg)	ZMPSTE24 (K243R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406130	NM_005857.5(ZMPSTE24):c.1059+3A>G	ZMPSTE24	Single nucleotide variant (intron 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 1386345	NM_005857.5(ZMPSTE24):c.1416G>T (p.Met472Ile)	ZMPSTE24 (M472I)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia with type B lipodystrophy +2 more	GUncertain significance
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 1377698	NM_005857.5(ZMPSTE24):c.1085del (p.Leu362fs)	ZMPSTE24 (L362fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1364925	NM_005857.5(ZMPSTE24):c.1094T>G (p.Val365Gly)	ZMPSTE24 (V365G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348025	NM_005857.5(ZMPSTE24):c.869T>G (p.Leu290Arg)	ZMPSTE24 (L290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325372	NM_005857.5(ZMPSTE24):c.960del (p.Lys321fs)	ZMPSTE24 (K321fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1323784	NM_005857.5(ZMPSTE24):c.1085T>A (p.Leu362Ter)	ZMPSTE24 (L362*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1287606	NM_005857.5(ZMPSTE24):c.627+296T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280402	NM_005857.5(ZMPSTE24):c.1060-308C>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 1274598	NC_000001.11:g.40257972C>T	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	GBenign
Select item 1260900	NM_005857.5(ZMPSTE24):c.1204-124T>C	ZMPSTE24	Single nucleotide variant (intron variant)	not provided	GBenign

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