"GeneDx"[submitter] AND "LINC01389"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 287849	NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)	FOXE3, LINC01389 (D6N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 501413	NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)	FOXE3, LINC01389 (G49A)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
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 1013237	NM_012186.3(FOXE3):c.163C>A (p.Pro55Thr)	FOXE3, LINC01389 (P55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2925790	NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)	FOXE3, LINC01389	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1306247	NM_012186.3(FOXE3):c.206G>A (p.Arg69His)	FOXE3, LINC01389 (R69H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383925	NM_012186.3(FOXE3):c.224C>T (p.Ser75Leu)	FOXE3, LINC01389 (S75L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3378161	NM_012186.3(FOXE3):c.238A>T (p.Ile80Phe)	FOXE3, LINC01389 (I80F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707586	NM_012186.3(FOXE3):c.276C>T (p.Leu92=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 260211	NM_012186.3(FOXE3):c.423G>A (p.Lys141=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 383926	NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys)	FOXE3, LINC01389 (Y144C)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GConflicting classifications of pathogenicity
Select item 1307626	NM_012186.3(FOXE3):c.471C>G (p.Asn157Lys)	FOXE3, LINC01389 (N157K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305850	NM_012186.3(FOXE3):c.473G>A (p.Gly158Asp)	FOXE3, LINC01389 (G158D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 193357	NM_012186.3(FOXE3):c.510C>T (p.Ala170=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 468250	NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)	FOXE3, LINC01389 (G196A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 707004	NM_012186.3(FOXE3):c.601G>A (p.Val201Met)	FOXE3, LINC01389 (V201M)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1254675	NM_012186.3(FOXE3):c.617C>A (p.Ala206Asp)	FOXE3, LINC01389 (A206D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193356	NM_012186.3(FOXE3):c.618C>G (p.Ala206=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 8448	NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)	FOXE3, LINC01389 (C240*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 286610	NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)	FOXE3, LINC01389 (S300G)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 426214	NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr)	FOXE3, LINC01389 (P309T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1327737	NM_012186.3(FOXE3):c.932_944del (p.Phe311fs)	FOXE3, LINC01389 (F311fs)	Deletion (frameshift variant)	Congenital primary aphakia +2 more	GConflicting classifications of pathogenicity
Select item 1269146	NM_012186.3(FOXE3):c.*72T>C	FOXE3, LINC01389	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237144	NM_012186.3(FOXE3):c.*77A>G	FOXE3, LINC01389	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 31