ClinVar for MedGen (Select 814203) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446429	NM_001080442.3(SLC38A8):c.1214+1G>T	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 2345972	NM_001080442.3(SLC38A8):c.794A>G (p.Tyr265Cys)	SLC38A8 (Y265C)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GUncertain significance
Select item 1916488	NM_001080442.3(SLC38A8):c.589C>T (p.Leu197Phe)	SLC38A8 (L197F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1709230	NM_001080442.3(SLC38A8):c.682G>C (p.Gly228Arg)	SLC38A8 (G228R)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 1698707	NM_001080442.3(SLC38A8):c.805+1G>A	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic
Select item 1686210	NM_001080442.3(SLC38A8):c.388+1G>T	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GPathogenic/Likely pathogenic
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
Select item 1301567	NM_001080442.3(SLC38A8):c.116del (p.Gly39fs)	SLC38A8 (G39fs)	Deletion (frameshift variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GPathogenic
Select item 1033658	NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala)	SLC38A8 (T308A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988806	NM_001080442.3(SLC38A8):c.632+1G>A	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GPathogenic
Select item 988805	NM_001080442.3(SLC38A8):c.435G>A (p.Trp145Ter)	SLC38A8 (W145*)	Single nucleotide variant (nonsense)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GPathogenic
Select item 988804	NM_001080442.3(SLC38A8):c.698A>G (p.Glu233Gly)	SLC38A8 (E233G)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic
Select item 988803	NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)	SLC38A8 (Y88*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 777022	NM_001080442.3(SLC38A8):c.190-8C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 691946	NM_001080442.3(SLC38A8):c.490_491del (p.Leu164fs)	SLC38A8 (L164fs)	Deletion (frameshift variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GPathogenic
Select item 383461	NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)	SLC38A8 (S305P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 372508	NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	SLC38A8 (D283A)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 369950	NM_001080442.3(SLC38A8):c.806-3C>G	SLC38A8	Single nucleotide variant (intron variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic
Select item 291145	NM_001080442.3(SLC38A8):c.189+11G>T	SLC38A8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 125447	NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)	SLC38A8 (Q200*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 125446	NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys)	SLC38A8 (E233K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 125442	NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser)	SLC38A8 (I32S)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 22