"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LINC013 - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 276

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1525207	NC_000001.11:g.47416279_47416517del	FOXE3, LINC01389	Deletion	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2107969	NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)	FOXE3, LINC01389 (M1L)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 1476454	NM_012186.3(FOXE3):c.2del (p.Met1fs)	FOXE3, LINC01389 (M1fs)	Deletion (frameshift variant +1 more)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2143547	NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)	FOXE3, LINC01389 (M1I)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis +2 more	GUncertain significance
Select item 2203090	NM_012186.3(FOXE3):c.6G>T (p.Ala2=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 743906	NM_012186.3(FOXE3):c.6G>C (p.Ala2=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 287849	NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)	FOXE3, LINC01389 (D6N)	Single nucleotide variant (missense variant)	Congenital primary aphakia +4 more	GBenign/Likely benign
Select item 1077103	NM_012186.3(FOXE3):c.21_24del (p.Met7fs)	FOXE3, LINC01389 (M7fs)	Deletion (frameshift variant)	Congenital primary aphakia +1 more	GPathogenic
Select item 1007471	NM_012186.3(FOXE3):c.19A>G (p.Met7Val)	FOXE3, LINC01389 (M7V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1450017	NM_012186.3(FOXE3):c.22G>C (p.Asp8His)	FOXE3, LINC01389 (D8H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 1719974	NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)	FOXE3, LINC01389 (F13L)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 1127506	NM_012186.3(FOXE3):c.51T>C (p.Pro17=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 856708	NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro)	FOXE3, LINC01389 (A18P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2926193	NM_012186.3(FOXE3):c.55C>T (p.Leu19=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 861717	NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr)	FOXE3, LINC01389 (A21T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2949820	NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)	FOXE3, LINC01389 (V22I)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2925206	NM_012186.3(FOXE3):c.75G>T (p.Ser25=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 1105347	NM_012186.3(FOXE3):c.75G>C (p.Ser25=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1476428	NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu)	FOXE3, LINC01389 (G26E)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2053649	NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)	FOXE3, LINC01389 (P27S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2448366	NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)	FOXE3, LINC01389 (P28T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 1627564	NM_012186.3(FOXE3):c.84G>A (p.Pro28=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 2937616	NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)	FOXE3, LINC01389 (S30P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 939105	NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser)	FOXE3, LINC01389 (P31S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2059005	NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)	FOXE3, LINC01389 (P31Q)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +2 more	GUncertain significance
Select item 2934853	NM_012186.3(FOXE3):c.96C>T (p.Leu32=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 1039597	NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr)	FOXE3, LINC01389 (A33T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 1756392	NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)	FOXE3, LINC01389 (G34V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +2 more	GUncertain significance
Select item 1106337	NM_012186.3(FOXE3):c.105C>T (p.Ala35=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 498360	NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys)	FOXE3, LINC01389 (E36K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1594289	NM_012186.3(FOXE3):c.114G>A (p.Gly38=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1736238	NM_012186.3(FOXE3):c.115C>A (p.Arg39=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1407551	NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)	FOXE3, LINC01389 (E43K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 834580	NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del)	FOXE3, LINC01389	Deletion (inframe_deletion)	Congenital primary aphakia +1 more	GUncertain significance
Select item 284289	NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala)	FOXE3, LINC01389 (E43A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2148018	NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu)	FOXE3, LINC01389 (A44E)	Single nucleotide variant (missense variant)	FOXE3-related disorder +2 more	GUncertain significance
Select item 1127847	NM_012186.3(FOXE3):c.132G>A (p.Ala44=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +2 more	GLikely benign
Select item 2625492	NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)	FOXE3, LINC01389 (A45E)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2150466	NM_012186.3(FOXE3):c.134C>T (p.Ala45Val)	FOXE3, LINC01389 (A45V)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 1546796	NM_012186.3(FOXE3):c.135G>A (p.Ala45=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +2 more	GBenign/Likely benign
Select item 1121403	NM_012186.3(FOXE3):c.138T>C (p.Ala46=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1114662	NM_012186.3(FOXE3):c.144C>G (p.Arg48=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2086066	NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)	FOXE3, LINC01389 (G49*)	Single nucleotide variant (nonsense)	Congenital primary aphakia +1 more	GPathogenic
Select item 1773123	NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)	FOXE3, LINC01389 (G49R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +2 more	GUncertain significance
Select item 952102	NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg)	FOXE3, LINC01389 (G49R)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 501413	NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)	FOXE3, LINC01389 (G49A)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 1 +5 more	GBenign
Select item 2932334	NM_012186.3(FOXE3):c.150G>A (p.Glu50=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 1483922	NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser)	FOXE3, LINC01389 (A51S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 707467	NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu)	FOXE3, LINC01389 (P53L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2943315	NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)	FOXE3, LINC01389 (P55S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2924914	NM_012186.3(FOXE3):c.165C>G (p.Pro55=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 1004513	NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr)	LINC01389, FOXE3 (A56T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1509375	NM_012186.3(FOXE3):c.167C>T (p.Ala56Val)	FOXE3, LINC01389 (A56V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2535689	NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)	FOXE3, LINC01389 (P57R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1119204	NM_012186.3(FOXE3):c.171C>A (p.Pro57=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2922963	NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)	FOXE3, LINC01389 (G58R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2150244	NM_012186.3(FOXE3):c.177G>C (p.Pro59=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2925790	NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)	FOXE3, LINC01389	Microsatellite (inframe_insertion)	Anterior segment dysgenesis +2 more	GUncertain significance
Select item 1488538	NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup)	FOXE3, LINC01389	Microsatellite (inframe_insertion)	Congenital primary aphakia +2 more	GUncertain significance
Select item 998594	NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp)	FOXE3, LINC01389 (G60W)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2945214	NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)	FOXE3, LINC01389 (R65del)	Microsatellite (inframe_deletion)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2053678	NM_012186.3(FOXE3):c.180G>A (p.Gly60=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 839342	NM_012186.3(FOXE3):c.181del (p.Arg61fs)	FOXE3, LINC01389 (R61fs)	Deletion (frameshift variant)	Congenital primary aphakia +1 more	GLikely pathogenic
Select item 1668473	NM_012186.3(FOXE3):c.183G>C (p.Arg61=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2946019	NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)	FOXE3, LINC01389 (R62P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2199820	NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro)	FOXE3, LINC01389 (R63P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1009731	NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu)	FOXE3, LINC01389 (R64L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1654880	NM_012186.3(FOXE3):c.192G>A (p.Arg64=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +2 more	GLikely benign
Select item 2939475	NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)	FOXE3, LINC01389 (R65P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 1956102	NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)	FOXE3, LINC01389 (R65L)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 938104	NM_012186.3(FOXE3):c.204G>C (p.Gln68His)	FOXE3, LINC01389 (Q68H)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2611624	NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)	FOXE3, LINC01389 (P72S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2926506	NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)	FOXE3, LINC01389 (P73A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2952039	NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)	LINC01389, FOXE3 (Y74*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 427852	NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr)	FOXE3, LINC01389 (A78T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GLikely pathogenic
Select item 385608	NM_012186.3(FOXE3):c.234G>A (p.Ala78=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +5 more	GBenign/Likely benign
Select item 1134713	NM_012186.3(FOXE3):c.240C>T (p.Ile80=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 667373	NM_012186.3(FOXE3):c.244A>G (p.Met82Val)	FOXE3, LINC01389 (M82V)	Single nucleotide variant (missense variant)	Congenital primary aphakia +5 more	GConflicting classifications of pathogenicity
Select item 1952325	NM_012186.3(FOXE3):c.258C>G (p.His86Gln)	FOXE3, LINC01389 (H86Q)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 1531257	NM_012186.3(FOXE3):c.258C>T (p.His86=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +2 more	GLikely benign
Select item 1952326	NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)	FOXE3, LINC01389 (G89S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 960209	NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp)	FOXE3, LINC01389 (G89D)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 960001	NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu)	FOXE3, LINC01389 (R90L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1977520	NM_012186.3(FOXE3):c.272G>A (p.Arg91His)	FOXE3, LINC01389 (R91H)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2928673	NM_012186.3(FOXE3):c.273C>T (p.Arg91=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 707586	NM_012186.3(FOXE3):c.276C>T (p.Leu92=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +4 more	GBenign/Likely benign
Select item 1146828	NM_012186.3(FOXE3):c.282G>A (p.Leu94=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 1057924	NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser)	FOXE3, LINC01389 (A95S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2934654	NM_012186.3(FOXE3):c.285C>G (p.Ala95=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 837571	NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly)	FOXE3, LINC01389 (A96G)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 935371	NM_012186.3(FOXE3):c.291C>G (p.Ile97Met)	FOXE3, LINC01389 (I97M)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GPathogenic
Select item 2933041	NM_012186.3(FOXE3):c.296G>A (p.Arg99His)	FOXE3, LINC01389 (R99H)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2925785	NM_012186.3(FOXE3):c.306C>T (p.Thr102=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis +1 more	GLikely benign
Select item 1620456	NM_012186.3(FOXE3):c.309A>G (p.Glu103=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2951169	NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)	FOXE3, LINC01389 (R104S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 427853	NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys)	FOXE3, LINC01389 (R104C)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GConflicting classifications of pathogenicity
Select item 2933991	NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)	FOXE3, LINC01389 (R104P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2934709	NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)	FOXE3, LINC01389 (F105L)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 1620457	NM_012186.3(FOXE3):c.315T>C (p.Phe105=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1151698	NM_012186.3(FOXE3):c.324C>T (p.Tyr108=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +2 more	GLikely benign

<< First< Prev

Page of 3