"Ambry Genetics"[submitter] AND "SLC39A14"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2346831	NM_001128431.4(SLC39A14):c.26C>T (p.Ala9Val)	SLC39A14 (A9V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211002	NM_001128431.4(SLC39A14):c.323G>A (p.Arg108Gln)	SLC39A14 (R108Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985470	NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)	SLC39A14 (R128W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2220061	NM_001128431.4(SLC39A14):c.412GAG[1] (p.Glu139del)	SLC39A14 (E139del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2235895	NM_001128431.4(SLC39A14):c.458-5G>A	SLC39A14	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1907042	NM_001128431.4(SLC39A14):c.661G>A (p.Val221Ile)	SLC39A14 (V221I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2555362	NM_001128431.4(SLC39A14):c.751C>T (p.His251Tyr)	SLC39A14 (H261Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489022	NM_001128431.4(SLC39A14):c.793T>A (p.Ser265Thr)	SLC39A14 (S275T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362345	NM_001128431.4(SLC39A14):c.838G>A (p.Gly280Arg)	SLC39A14 (G280R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2218340	NM_001128431.4(SLC39A14):c.1174G>A (p.Gly392Arg)	SLC39A14 (G402R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059352	NM_001128431.4(SLC39A14):c.1475G>A (p.Gly492Glu)	SLC39A14 (G502E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance