"GeneDx"[submitter] AND "CEP135"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 146177	GRCh38/hg38 4q12(chr4:55831692-56248102)x3	CEP135, CRACD +8 more	Copy number gain	See cases	GUncertain significance
Select item 726147	NM_025009.5(CEP135):c.64C>T (p.Arg22Cys)	CEP135 (R22C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1254843	NM_025009.5(CEP135):c.113+29T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198071	NM_025009.5(CEP135):c.113+283C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 434720	NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)	CEP135 (R48W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128700	NM_025009.5(CEP135):c.297C>T (p.His99=)	CEP135	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1310903	NM_025009.5(CEP135):c.304G>A (p.Glu102Lys)	CEP135 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194479	NM_025009.5(CEP135):c.304+295T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260704	NM_025009.5(CEP135):c.305-171T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227108	NM_025009.5(CEP135):c.305-152T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128703	NM_025009.5(CEP135):c.335G>A (p.Arg112His)	CEP135 (R112H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1198441	NM_025009.5(CEP135):c.472+18C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1251671	NM_025009.5(CEP135):c.472+221A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196199	NM_025009.5(CEP135):c.473-12C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2034737	NM_025009.5(CEP135):c.508C>G (p.Arg170Gly)	CEP135 (R170G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187033	NM_025009.5(CEP135):c.614+199A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251555	NM_025009.5(CEP135):c.615-189_615-188insGT	CEP135	Insertion (intron variant)	not provided	GBenign
Select item 1254322	NM_025009.5(CEP135):c.699+83G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204251	NM_025009.5(CEP135):c.700-131C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309740	NM_025009.5(CEP135):c.715C>G (p.Arg239Gly)	CEP135 (R239G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308704	NM_025009.5(CEP135):c.754C>T (p.Arg252Trp)	CEP135 (R252W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 503912	NM_025009.5(CEP135):c.795dup (p.Asn266fs)	CEP135 (N266fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1229691	NM_025009.5(CEP135):c.828+37A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198301	NM_025009.5(CEP135):c.828+80G>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199710	NM_025009.5(CEP135):c.829-221T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312031	NM_025009.5(CEP135):c.878A>G (p.Glu293Gly)	CEP135 (E293G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210672	NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del)	CEP135 (E335del)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1253884	NM_025009.5(CEP135):c.1044+148C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194443	NM_025009.5(CEP135):c.1044+189T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293001	NM_025009.5(CEP135):c.1045-125T>A	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257059	NM_025009.5(CEP135):c.1045-115G>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728859	NM_025009.5(CEP135):c.1110+1G>A	CEP135	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1271633	NM_025009.5(CEP135):c.1110+15T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285642	NM_025009.5(CEP135):c.1110+119C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281690	NM_025009.5(CEP135):c.1110+320del	CEP135	Deletion (intron variant)	not provided	GBenign
Select item 1181819	NM_025009.5(CEP135):c.1111-64_1111-61del	CEP135	Deletion (intron variant)	not provided	GLikely benign
Select item 128692	NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn)	CEP135 (S407N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225021	NM_025009.5(CEP135):c.1250-237C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179410	NM_025009.5(CEP135):c.1250-162T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196163	NM_025009.5(CEP135):c.1250-82A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266339	NM_025009.5(CEP135):c.1250-66A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 210673	NM_025009.5(CEP135):c.1254A>G (p.Arg418=)	CEP135	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3368673	NM_025009.5(CEP135):c.1408C>T (p.Arg470Ter)	CEP135 (R470*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 210674	NM_025009.5(CEP135):c.1412G>A (p.Arg471Lys)	CEP135 (R471K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1281556	NM_025009.5(CEP135):c.1473+80C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211096	NM_025009.5(CEP135):c.1473+188A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209523	NM_025009.5(CEP135):c.1626+106T>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250442	NM_025009.5(CEP135):c.1626+290A>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128694	NM_025009.5(CEP135):c.1675G>A (p.Ala559Thr)	CEP135 (A559T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3364924	NM_025009.5(CEP135):c.1700T>G (p.Met567Arg)	CEP135 (M567R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309135	NM_025009.5(CEP135):c.1715A>G (p.Glu572Gly)	CEP135 (E572G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084296	NM_025009.5(CEP135):c.1766G>C (p.Arg589Thr)	CEP135 (R589T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1209427	NM_025009.5(CEP135):c.1779+196G>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240857	NM_025009.5(CEP135):c.1780-299G>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204002	NM_025009.5(CEP135):c.1780-288A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251298	NM_025009.5(CEP135):c.1780-220A>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222526	NM_025009.5(CEP135):c.1858-93G>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2066825	NM_025009.5(CEP135):c.1867G>A (p.Glu623Lys)	CEP135 (E623K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236093	NM_025009.5(CEP135):c.2009+199A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236290	NM_025009.5(CEP135):c.2010-331C>A	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262607	NM_025009.5(CEP135):c.2010-108C>A	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422503	NM_025009.5(CEP135):c.2114A>G (p.Glu705Gly)	CEP135 (E705G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 503969	NM_025009.5(CEP135):c.2276dup (p.Asn759fs)	CEP135 (N759fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1244106	NM_025009.5(CEP135):c.2281-251G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128696	NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu)	CEP135 (I769L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1199948	NM_025009.5(CEP135):c.2336+53C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191094	NM_025009.5(CEP135):c.2336+103A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214198	NM_025009.5(CEP135):c.2336+230A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209479	NM_025009.5(CEP135):c.2337-202del	CEP135	Deletion (intron variant)	not provided	GLikely benign
Select item 1296034	NM_025009.5(CEP135):c.2337-72A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699644	NM_025009.5(CEP135):c.2387G>C (p.Arg796Pro)	CEP135 (R796P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187657	NM_025009.5(CEP135):c.2505+49T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234012	NM_025009.5(CEP135):c.2505+172C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202949	NM_025009.5(CEP135):c.2505+282dup	CEP135	Duplication (intron variant)	not provided	GLikely benign
Select item 1225331	NM_025009.5(CEP135):c.2505+281_2505+282del	CEP135	Deletion (intron variant)	not provided	GBenign
Select item 1225215	NM_025009.5(CEP135):c.2505+282del	CEP135	Deletion (intron variant)	not provided	GBenign
Select item 489230	NM_025009.5(CEP135):c.2594G>A (p.Trp865Ter)	CEP135 (W865*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1279184	NM_025009.5(CEP135):c.2616+37G>T	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219227	NM_025009.5(CEP135):c.2616+51dup	CEP135	Duplication (intron variant)	not provided	GLikely benign
Select item 1181270	NM_025009.5(CEP135):c.2616+51del	CEP135	Deletion (intron variant)	not provided	GBenign
Select item 982087	NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)	CEP135 (R908*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 128697	NM_025009.5(CEP135):c.2724A>G (p.Arg908=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 128698	NM_025009.5(CEP135):c.2755A>C (p.Arg919=)	CEP135	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1292976	NM_025009.5(CEP135):c.2802+42A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208010	NM_025009.5(CEP135):c.2802+82A>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206977	NM_025009.5(CEP135):c.2802+103G>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305236	NM_025009.5(CEP135):c.2861C>T (p.Ser954Phe)	CEP135 (S954F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720572	NM_025009.5(CEP135):c.2971A>G (p.Met991Val)	CEP135 (M991V)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 128699	NM_025009.5(CEP135):c.2976C>G (p.Thr992=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 128701	NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)	CEP135 (S997L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1272497	NM_025009.5(CEP135):c.3012+56T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255051	NM_025009.5(CEP135):c.3013-271C>A	CEP135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128702	NM_025009.5(CEP135):c.3075T>C (p.Asn1025=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261588	NM_025009.5(CEP135):c.3113C>G (p.Ala1038Gly)	CEP135 (A1038G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307568	NM_025009.5(CEP135):c.3129A>C (p.Lys1043Asn)	CEP135 (K1043N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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