"GeneDx"[submitter] AND "CEP152"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316404	NM_001194998.2(CEP152):c.*194G>A	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +2 more	GBenign/Likely benign
Select item 316405	NM_001194998.2(CEP152):c.*170T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 158272	NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 158270	NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu)	CEP152 (P1637L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 420239	NM_001194998.2(CEP152):c.4937A>G (p.Tyr1646Cys)	CEP152 (Y1590C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158269	NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 158267	NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +3 more	GBenign/Likely benign
Select item 384842	NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro)	CEP152 (R1530P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158266	NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)	CEP152 (S1526P +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 31033	NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)	CEP152 (V1404fs +1 more)	Deletion (frameshift variant)	not specified +1 more	GBenign/Likely benign
Select item 1327252	NM_001194998.2(CEP152):c.4330C>T (p.Gln1444Ter)	CEP152 (Q1388* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 158263	NM_001194998.2(CEP152):c.4299T>C (p.His1433=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +3 more	GBenign
Select item 817731	NM_001194998.2(CEP152):c.4295del (p.Lys1432fs)	CEP152 (K1376fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3266026	NM_001194998.2(CEP152):c.4250G>T (p.Cys1417Phe)	CEP152 (C1361F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 316410	NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)	CEP152 (I1336T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95654	NM_001194998.2(CEP152):c.4094-9A>T	CEP152	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1327310	NM_001194998.2(CEP152):c.4094-50C>T	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232919	NM_001194998.2(CEP152):c.4094-77del	CEP152	Deletion (intron variant)	not provided	GBenign
Select item 1219231	NM_001194998.2(CEP152):c.4093+311A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217753	NM_001194998.2(CEP152):c.4093+189A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 497763	NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)	CEP152 (Q1307* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158262	NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)	CEP152 (Q1302E +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 1313453	NM_001194998.2(CEP152):c.3848G>A (p.Arg1283His)	CEP152 (R1227H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1181126	NM_001194998.2(CEP152):c.3836-208C>T	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 316412	NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=)	CEP152	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1216827	NM_001194998.2(CEP152):c.3732-154C>A	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211727	NM_001194998.2(CEP152):c.3731+77dup	CEP152	Duplication (intron variant)	not provided	GLikely benign
Select item 1252475	NM_001194998.2(CEP152):c.3634+140A>C	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292999	NM_001194998.2(CEP152):c.3467-58del	CEP152	Deletion (intron variant)	not provided	GBenign
Select item 1187340	NM_001194998.2(CEP152):c.3467-59_3467-58del	CEP152	Deletion (intron variant)	not provided	GLikely benign
Select item 95653	NM_001194998.2(CEP152):c.3466+8G>C	CEP152	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 95652	NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)	CEP152 (A1109P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 158254	NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala)	CEP152 (V1106A)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +3 more	GBenign
Select item 158253	NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)	CEP152 (L1105V)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 158252	NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr)	CEP152 (C1093Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 420624	NM_001194998.2(CEP152):c.3274G>T (p.Gly1092Cys)	CEP152 (G1092C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503918	NM_001194998.2(CEP152):c.3249del (p.Val1084fs)	CEP152 (V1084fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 434736	NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)	CEP152 (L1071fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1308941	NM_001194998.2(CEP152):c.3154G>A (p.Val1052Ile)	CEP152 (V1052I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210687	NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu)	CEP152 (R1024L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1315167	NM_001194998.2(CEP152):c.3028C>T (p.Leu1010Phe)	CEP152 (L1010F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311631	NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val)	CEP152 (A995V)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GUncertain significance
Select item 1300595	NM_001194998.2(CEP152):c.2945T>C (p.Phe982Ser)	CEP152 (F982S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 885097	NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln)	CEP152 (R980Q)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +3 more	GUncertain significance
Select item 95651	NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)	CEP152 (W960R)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1329817	NM_001194998.2(CEP152):c.2864A>T (p.Lys955Met)	CEP152 (K955M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 136723	NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val)	CEP152 (L914V)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +3 more	GBenign
Select item 678344	NM_001194998.2(CEP152):c.2695-215C>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185822	NM_001194998.2(CEP152):c.2694+318A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158245	NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)	CEP152 (S894F)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 3253436	NM_001194998.2(CEP152):c.2594G>A (p.Arg865Gln)	CEP152 (R865Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668460	NM_001194998.2(CEP152):c.2593C>A (p.Arg865=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206506	NM_001194998.2(CEP152):c.2563-70C>A	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678329	NM_001194998.2(CEP152):c.2563-206T>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197124	NM_001194998.2(CEP152):c.2562+101T>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699619	NM_001194998.2(CEP152):c.2548A>C (p.Asn850His)	CEP152 (N850H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136722	NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile)	CEP152 (S793I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1236255	NM_001194998.2(CEP152):c.2281-83G>T	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178282	NM_001194998.2(CEP152):c.2281-218TG[3]	CEP152	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1238498	NM_001194998.2(CEP152):c.2281-293A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187744	NM_001194998.2(CEP152):c.2280+260dup	CEP152	Duplication (intron variant)	not provided	GLikely benign
Select item 1193130	NM_001194998.2(CEP152):c.2280+272del	CEP152	Deletion (intron variant)	not provided	GLikely benign
Select item 1207927	NM_001194998.2(CEP152):c.2280+31C>A	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158242	NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)	CEP152	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 451346	NM_001194998.2(CEP152):c.2258del (p.Lys753fs)	CEP152 (K753fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 420623	NM_001194998.2(CEP152):c.2050G>A (p.Ala684Thr)	CEP152 (A684T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265076	NM_001194998.2(CEP152):c.2038C>T (p.Gln680Ter)	CEP152 (Q680*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 158240	NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	CEP152 (Y678*)	Single nucleotide variant (nonsense)	Seckel syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 136721	NM_001194998.2(CEP152):c.2019-13G>A	CEP152	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1197910	NM_001194998.2(CEP152):c.2019-43G>A	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186513	NM_001194998.2(CEP152):c.2019-282A>C	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669844	NM_001194998.2(CEP152):c.2018+333C>A	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669815	NM_001194998.2(CEP152):c.2018+250G>C	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270348	NM_001194998.2(CEP152):c.2018+246A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31034	NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)	CEP152 (K667R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 158235	NM_001194998.2(CEP152):c.1909-8G>C	CEP152	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1190251	NM_001194998.2(CEP152):c.1909-161C>T	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678328	NM_001194998.2(CEP152):c.1909-200A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204528	NM_001194998.2(CEP152):c.1908+223A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507912	NM_001194998.2(CEP152):c.1908+20A>T	CEP152	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2505978	NM_001194998.2(CEP152):c.1908+1G>T	CEP152	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 158234	NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 420640	NM_001194998.2(CEP152):c.1818A>T (p.Gln606His)	CEP152 (Q606H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1206804	NM_001194998.2(CEP152):c.1783-327T>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263772	NM_001194998.2(CEP152):c.1782+212C>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264732	NM_001194998.2(CEP152):c.1782+162G>A	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200210	NM_001194998.2(CEP152):c.1782+65dup	CEP152	Duplication (intron variant)	not provided	GLikely benign
Select item 1198130	NM_001194998.2(CEP152):c.1782+76del	CEP152	Deletion (intron variant)	not provided	GLikely benign
Select item 1394508	NM_001194998.2(CEP152):c.1753AAG[1] (p.Lys586del)	CEP152 (K586del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1187355	NM_001194998.2(CEP152):c.1578-301T>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191215	NM_001194998.2(CEP152):c.1577+116T>C	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680093	NM_001194998.2(CEP152):c.1577+97A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158229	NM_001194998.2(CEP152):c.1577+6G>A	CEP152	Single nucleotide variant (intron variant)	Seckel syndrome 5 +3 more	GBenign/Likely benign
Select item 158228	NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys)	CEP152 (S522C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420350	NM_001194998.2(CEP152):c.1509A>G (p.Ile503Met)	CEP152 (I503M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211044	NM_001194998.2(CEP152):c.1413+244C>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249557	NM_001194998.2(CEP152):c.1322-112G>A	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286566	NM_001194998.2(CEP152):c.1322-275G>C	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196398	NM_001194998.2(CEP152):c.1321+267A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668868	NM_001194998.2(CEP152):c.1321+252A>G	CEP152	Single nucleotide variant (intron variant)	not provided	GBenign

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