"Eurofins Ntd Llc (ga)"[submitter] AND "LINC01389"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 498360	NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys)	FOXE3, LINC01389 (E36K)	Single nucleotide variant (missense variant)	not provided +3 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 289800	NM_012186.3(FOXE3):c.135G>T (p.Ala45=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided	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 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 287958	NM_012186.3(FOXE3):c.225G>C (p.Ser75=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 285769	NM_012186.3(FOXE3):c.295C>T (p.Arg99Cys)	FOXE3, LINC01389 (R99C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 193357	NM_012186.3(FOXE3):c.510C>T (p.Ala170=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
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 282952	NM_012186.3(FOXE3):c.834C>T (p.Pro278=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Congenital primary aphakia +3 more	GConflicting classifications of pathogenicity
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 289293	NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)	FOXE3, LINC01389 (G310D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign