Related gene-specific medical variations for Gene (Select 146167) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382411	NM_001080442.3(SLC38A8):c.884T>A (p.Ile295Asn)	SLC38A8 (I295N)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 3362240	NM_001080442.3(SLC38A8):c.1163-3C>A	SLC38A8	Single nucleotide variant (intron variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 3362239	NM_001080442.3(SLC38A8):c.1255G>T (p.Gly419Cys)	SLC38A8 (G419C)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 3243602	NC_000016.9:g.(?_84046586)_(84050912_?)dup	SLC38A8	Duplication	not provided	GLikely pathogenic
Select item 3243601	NC_000016.9:g.(?_84046586)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243600	NC_000016.9:g.(?_84043389)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243599	NC_000016.9:g.(?_84065452)_(84067094_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243598	NC_000016.9:g.(?_84043389)_(84067094_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243597	NC_000016.9:g.(?_84046586)_(84070525_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243596	NC_000016.9:g.(?_84056360)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243595	NC_000016.9:g.(?_84063079)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243594	NC_000016.9:g.(?_84066913)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243592	NC_000016.9:g.(?_84070287)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243591	NC_000016.9:g.(?_84056360)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243590	NC_000016.9:g.(?_84075554)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 1325088	NM_001080442.3(SLC38A8):c.895_901del (p.Arg299fs)	SLC38A8 (R299fs)	Deletion (frameshift variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic