"GeneDx"[submitter] AND "CEL"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1219499	NC_000009.12:g.133061658G>A	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 1210591	NC_000009.12:g.133061797G>A	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 1182134	NC_000009.12:g.133061890G>T	CEL	Single nucleotide variant	not provided	GBenign
Select item 218596	NM_001807.6(CEL):c.7C>T (p.Arg3Cys)	CEL (R3C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1196243	NM_001807.6(CEL):c.54G>A (p.Ala18=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1200172	NM_001807.6(CEL):c.61G>T (p.Ala21Ser)	CEL (A21S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1188243	NM_001807.6(CEL):c.67-306C>T	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267374	NM_001807.6(CEL):c.67-121A>C	CEL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199974	NM_001807.6(CEL):c.67-46C>T	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186605	NM_001807.6(CEL):c.67-26del	CEL	Deletion (intron variant)	not provided	GLikely benign
Select item 1179684	NM_001807.6(CEL):c.217+35G>A	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809856	NM_001807.6(CEL):c.239T>C (p.Phe80Ser)	CEL (F80S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334352	NM_001807.6(CEL):c.240C>A (p.Phe80Leu)	CEL (F80L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218097	NM_001807.6(CEL):c.341-48C>G	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128684	NM_001807.6(CEL):c.353T>G (p.Leu118Arg)	CEL (L118R)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign
Select item 713280	NM_001807.6(CEL):c.402C>G (p.Gly134=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign/Likely benign
Select item 1193242	NM_001807.6(CEL):c.417C>T (p.Phe139=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1235700	NM_001807.6(CEL):c.432G>A (p.Leu144=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1201063	NM_001807.6(CEL):c.466_479del (p.Val156fs)	CEL (V156fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1803910	NM_001807.6(CEL):c.472G>A (p.Val158Met)	CEL (V158M)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +1 more	GUncertain significance
Select item 1205011	NM_001807.6(CEL):c.539-75T>C	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219929	NM_001807.6(CEL):c.554G>A (p.Arg185Gln)	CEL (R185Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1201520	NM_001807.6(CEL):c.572T>A (p.Ile191Asn)	CEL (I191N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506629	NM_001807.6(CEL):c.626C>T (p.Thr209Met)	CEL (T209M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188153	NM_001807.6(CEL):c.670-4G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1200100	NM_001807.6(CEL):c.778-20G>T	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308042	NM_001807.6(CEL):c.878C>T (p.Pro293Leu)	CEL (P293L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207675	NM_001807.6(CEL):c.895+140G>A	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683973	NM_001807.6(CEL):c.895+188dup	CEL	Duplication (intron variant)	not provided	GLikely benign
Select item 1196995	NM_001807.6(CEL):c.895+224A>G	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218215	NM_001807.6(CEL):c.895+276C>A	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265436	NM_001807.6(CEL):c.896-58G>A	CEL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789781	NM_001807.6(CEL):c.965A>G (p.Asn322Ser)	CEL (N322S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1251611	NM_001807.6(CEL):c.1082+41A>G	CEL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198521	NM_001807.6(CEL):c.1083-33G>C	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249809	NM_001807.6(CEL):c.1164C>T (p.Thr388=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1310689	NM_001807.6(CEL):c.1165G>A (p.Glu389Lys)	CEL (E389K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283104	NM_001807.6(CEL):c.1226C>T (p.Thr409Ile)	CEL (T409I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1218577	NM_001807.6(CEL):c.1287-89A>G	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265096	NM_001807.6(CEL):c.1287-48C>T	CEL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214762	NM_001807.6(CEL):c.1335C>T (p.Pro445=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 2663460	NM_001807.6(CEL):c.1412C>A (p.Thr471Lys)	CEL (T471K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803447	NM_001807.6(CEL):c.1412C>T (p.Thr471Met)	CEL (T471M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216299	NM_001807.6(CEL):c.1420C>T (p.Arg474Trp)	CEL (R474W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1191685	NM_001807.6(CEL):c.1436C>T (p.Thr479Ile)	CEL (T479I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393421	NM_001807.6(CEL):c.1454T>C (p.Ile485Thr)	CEL (I485T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +3 more	GBenign/Likely benign
Select item 1213534	NM_001807.6(CEL):c.1484+40G>A	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243781	NM_001807.6(CEL):c.1485-58C>T	CEL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210981	NM_001807.6(CEL):c.1485-53C>G	CEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194575	NM_001807.6(CEL):c.1485-8C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign/Likely benign
Select item 1287937	NM_001807.6(CEL):c.1501G>C (p.Asp501His)	CEL (D501H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 393422	NM_001807.6(CEL):c.1619G>A (p.Arg540His)	CEL (R540H)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GBenign/Likely benign
Select item 1288982	NM_001807.6(CEL):c.1659C>G (p.Thr553=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign
Select item 1302296	NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)	CEL	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1191595	NM_001807.6(CEL):c.1677T>C (p.Pro559=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1216982	NM_001807.6(CEL):c.1689A>G (p.Thr563=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1211306	NM_001807.6(CEL):c.1692G>T (p.Gly564=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1206445	NM_001807.6(CEL):c.1698C>T (p.Ser566=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 128685	NM_001807.6(CEL):c.1710C>T (p.Pro570=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1202123	NM_001807.6(CEL):c.1716C>G (p.Pro572=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1205267	NM_001807.6(CEL):c.1733A>G (p.Glu578Gly)	CEL (E578G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1208803	NM_001807.6(CEL):c.1735A>G (p.Thr579Ala)	CEL (T579A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1204843	NM_001807.6(CEL):c.1738G>C (p.Ala580Pro)	CEL (A580P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1194884	NM_001807.6(CEL):c.1801G>C (p.Ala601Pro)	CEL (A601P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1208177	NM_001807.6(CEL):c.1828T>G (p.Ser610Ala)	CEL (S610A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1202347	NM_001807.6(CEL):c.1833G>C (p.Gly611=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1189892	NM_001807.6(CEL):c.1848G>C (p.Pro616=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1179485	NM_001807.6(CEL):c.2026_2091del (p.Ala676_Asp697del)	CEL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1193805	NM_001807.6(CEL):c.2106C>T (p.Pro702=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192167	NM_001807.6(CEL):c.2127_2192del (p.Thr711_Glu732del)	CEL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 218597	NM_001807.6(CEL):c.2134G>A (p.Ala712Thr)	CEL (A712T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1210948	NC_000009.12:g.133071962G>A	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 1202684	NC_000009.12:g.133072045A>T	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 74