LINC01389[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1296404	NC_000001.11:g.47416226G>T	FOXE3, LINC01389	Single nucleotide variant	not provided	GBenign
Select item 1228957	NC_000001.11:g.47416244dup	FOXE3, LINC01389	Duplication	not provided	GBenign
Select item 1217846	NC_000001.11:g.47416245C>G	FOXE3, LINC01389	Single nucleotide variant	not provided	GLikely benign
Select item 1525207	NC_000001.11:g.47416279_47416517del	FOXE3, LINC01389	Deletion	Congenital primary aphakia +1 more	GUncertain significance
Select item 1204109	NC_000001.11:g.47416272C>T	FOXE3, LINC01389	Single nucleotide variant	not provided	GLikely benign
Select item 260210	NM_012186.3(FOXE3):c.-14G>A	FOXE3, LINC01389	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 3048075	NM_012186.3(FOXE3):c.-10G>A	FOXE3, LINC01389	Single nucleotide variant (5 prime UTR variant)	FOXE3-related disorder	GLikely benign
Select item 2581643	NM_012186.3(FOXE3):c.-2C>G	FOXE3, LINC01389	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2107969	NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)	FOXE3, LINC01389 (M1L)	Single nucleotide variant (missense variant +1 more)	Congenital primary aphakia +1 more	GUncertain significance
Select item 1476454	NM_012186.3(FOXE3):c.2del (p.Met1fs)	FOXE3, LINC01389 (M1fs)	Deletion (frameshift variant +1 more)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2638807	NM_012186.3(FOXE3):c.3G>A (p.Met1Ile)	FOXE3, LINC01389 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2448356	NM_012186.3(FOXE3):c.3G>T (p.Met1Ile)	FOXE3, LINC01389 (M1I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2143547	NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)	FOXE3, LINC01389 (M1I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2448365	NM_012186.3(FOXE3):c.6G>A (p.Ala2=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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)	Congenital primary aphakia +2 more	GLikely benign
Select item 287849	NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)	FOXE3, LINC01389 (D6N)	Single nucleotide variant (missense variant)	not provided +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)	Congenital primary aphakia +2 more	GUncertain significance
Select item 1450017	NM_012186.3(FOXE3):c.22G>C (p.Asp8His)	FOXE3, LINC01389 (D8H)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 3226205	NM_012186.3(FOXE3):c.27G>T (p.Pro9=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226207	NM_012186.3(FOXE3):c.28C>T (p.Pro10Ser)	FOXE3, LINC01389 (P10S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226210	NM_012186.3(FOXE3):c.39C>T (p.Phe13=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1739548	NM_012186.3(FOXE3):c.42T>C (p.Ser14=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1127506	NM_012186.3(FOXE3):c.51T>C (p.Pro17=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +3 more	GBenign/Likely benign
Select item 856708	NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro)	FOXE3, LINC01389 (A18P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2926193	NM_012186.3(FOXE3):c.55C>T (p.Leu19=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2251776	NM_012186.3(FOXE3):c.59C>G (p.Pro20Arg)	FOXE3, LINC01389 (P20R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1694511	NM_012186.3(FOXE3):c.61G>T (p.Ala21Ser)	FOXE3, LINC01389 (A21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861717	NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr)	FOXE3, LINC01389 (A21T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2949820	NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)	FOXE3, LINC01389 (V22I)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 1757156	NM_012186.3(FOXE3):c.70C>A (p.Pro24Thr)	FOXE3, LINC01389 (P24T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758742	NM_012186.3(FOXE3):c.73T>G (p.Ser25Ala)	FOXE3, LINC01389 (S25A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2925206	NM_012186.3(FOXE3):c.75G>T (p.Ser25=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +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)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 2053649	NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)	FOXE3, LINC01389 (P27S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2448362	NM_012186.3(FOXE3):c.80C>T (p.Pro27Leu)	FOXE3, LINC01389 (P27L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448366	NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)	FOXE3, LINC01389 (P28T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1627564	NM_012186.3(FOXE3):c.84G>A (p.Pro28=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 2394361	NM_012186.3(FOXE3):c.85C>A (p.Pro29Thr)	FOXE3, LINC01389 (P29T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448363	NM_012186.3(FOXE3):c.86C>G (p.Pro29Arg)	FOXE3, LINC01389 (P29R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2347412	NM_012186.3(FOXE3):c.86C>T (p.Pro29Leu)	FOXE3, LINC01389 (P29L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2937616	NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)	FOXE3, LINC01389 (S30P)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2394362	NM_012186.3(FOXE3):c.88T>G (p.Ser30Ala)	FOXE3, LINC01389 (S30A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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)	Congenital primary aphakia +1 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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2448361	NM_012186.3(FOXE3):c.103G>A (p.Ala35Thr)	FOXE3, LINC01389 (A35T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3061123	NM_012186.3(FOXE3):c.105C>A (p.Ala35=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder	GLikely benign
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)	Congenital primary aphakia +3 more	GUncertain significance
Select item 3032939	NM_012186.3(FOXE3):c.109C>G (p.Pro37Ala)	FOXE3, LINC01389 (P37A)	Single nucleotide variant (missense variant)	FOXE3-related disorder	GUncertain significance
Select item 1594289	NM_012186.3(FOXE3):c.114G>A (p.Gly38=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +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 3226204	NM_012186.3(FOXE3):c.116G>A (p.Arg39Gln)	FOXE3, LINC01389 (R39Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1407551	NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)	FOXE3, LINC01389 (E43K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 834580	NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del)	LINC01389, FOXE3	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)	Congenital primary aphakia +2 more	GUncertain significance
Select item 1769325	NM_012186.3(FOXE3):c.129G>C (p.Glu43Asp)	FOXE3, LINC01389 (E43D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +2 more	GLikely benign
Select item 2625492	NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)	FOXE3, LINC01389 (A45E)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +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 +1 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 289800	NM_012186.3(FOXE3):c.135G>T (p.Ala45=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1121403	NM_012186.3(FOXE3):c.138T>C (p.Ala46=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +2 more	GLikely benign
Select item 1771738	NM_012186.3(FOXE3):c.139G>C (p.Gly47Arg)	FOXE3, LINC01389 (G47R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 497122	NM_012186.3(FOXE3):c.139G>T (p.Gly47Cys)	FOXE3, LINC01389 (G47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1771996	NM_012186.3(FOXE3):c.140G>T (p.Gly47Val)	FOXE3, LINC01389 (G47V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448364	NM_012186.3(FOXE3):c.143G>C (p.Arg48Pro)	FOXE3, LINC01389 (R48P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	Cardiovascular phenotype +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)	LINC01389, FOXE3 (G49A)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 1 +5 more	GBenign
Select item 1077104	NM_012186.3(FOXE3):c.148_170dup (p.Gly58fs)	FOXE3, LINC01389 (G58fs)	Duplication (frameshift variant)	Congenital primary aphakia	GPathogenic
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)	Congenital primary aphakia +2 more	GUncertain significance
Select item 2448360	NM_012186.3(FOXE3):c.152C>A (p.Ala51Glu)	FOXE3, LINC01389 (A51E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563301	NM_012186.3(FOXE3):c.154G>C (p.Ala52Pro)	FOXE3, LINC01389 (A52P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1775648	NM_012186.3(FOXE3):c.157C>G (p.Pro53Ala)	LINC01389, FOXE3 (P53A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 707467	NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu)	FOXE3, LINC01389 (P53L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 1013237	NM_012186.3(FOXE3):c.163C>A (p.Pro55Thr)	FOXE3, LINC01389 (P55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2924914	NM_012186.3(FOXE3):c.165C>G (p.Pro55=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +1 more	GLikely benign
Select item 1004513	NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr)	FOXE3, LINC01389 (A56T)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 2448359	NM_012186.3(FOXE3):c.167C>A (p.Ala56Glu)	FOXE3, LINC01389 (A56E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1509375	NM_012186.3(FOXE3):c.167C>T (p.Ala56Val)	FOXE3, LINC01389 (A56V)	Single nucleotide variant (missense variant)	Congenital primary aphakia +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 1778704	NM_012186.3(FOXE3):c.171C>T (p.Pro57=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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)	Congenital primary aphakia +1 more	GUncertain significance
Select item 1779170	NM_012186.3(FOXE3):c.173G>A (p.Gly58Asp)	FOXE3, LINC01389 (G58D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779357	NM_012186.3(FOXE3):c.174C>G (p.Gly58=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	FOXE3-related disorder +1 more	GLikely benign
Select item 1779762	NM_012186.3(FOXE3):c.176C>T (p.Pro59Leu)	FOXE3, LINC01389 (P59L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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