"Ambry Genetics"[submitter] AND "SLC39A4"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2269618	NM_130849.4(SLC39A4):c.1844C>T (p.Pro615Leu)	SLC39A4 (P117L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276327	NM_130849.4(SLC39A4):c.1838G>A (p.Arg613Gln)	SLC39A4 (R115Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542310	NM_130849.4(SLC39A4):c.1777G>A (p.Ala593Thr)	SLC39A4 (A568T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617518	NM_130849.4(SLC39A4):c.1747G>A (p.Glu583Lys)	SLC39A4 (E489K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357385	NM_130849.4(SLC39A4):c.1732G>T (p.Ala578Ser)	SLC39A4 (A484S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370477	NM_130849.4(SLC39A4):c.1672G>A (p.Ala558Thr)	SLC39A4 (A533T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257166	NM_130849.4(SLC39A4):c.1559C>T (p.Ala520Val)	LOC130001397, SLC39A4 (A495V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411907	NM_130849.4(SLC39A4):c.1543G>T (p.Val515Leu)	LOC130001397, SLC39A4 (V421L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231549	NM_130849.4(SLC39A4):c.1508G>T (p.Gly503Val)	SLC39A4 (G503V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240613	NM_130849.4(SLC39A4):c.1493A>G (p.Tyr498Cys)	SLC39A4 (Y404C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262766	NM_130849.4(SLC39A4):c.1482G>T (p.Arg494Ser)	SLC39A4 (R400S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229680	NM_130849.4(SLC39A4):c.1023_1475-7del	SLC39A4	Deletion (splice acceptor variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 985707	NM_130849.4(SLC39A4):c.1465_1474+4del	SLC39A4	Deletion (splice donor variant)	Hereditary acrodermatitis enteropathica +3 more	GPathogenic/Likely pathogenic
Select item 362234	NM_130849.4(SLC39A4):c.1426G>A (p.Glu476Lys)	SLC39A4 (E476K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary acrodermatitis enteropathica +2 more	GUncertain significance
Select item 2601159	NM_130849.4(SLC39A4):c.1414G>A (p.Asp472Asn)	SLC39A4 (D447N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518750	NM_130849.4(SLC39A4):c.1371C>A (p.Ser457Arg)	SLC39A4 (S432R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293313	NM_130849.4(SLC39A4):c.1334G>T (p.Gly445Val)	SLC39A4 (G351V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490720	NM_130849.4(SLC39A4):c.1326C>A (p.Ser442Arg)	SLC39A4 (S348R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294292	NM_130849.4(SLC39A4):c.1316G>T (p.Ser439Ile)	SLC39A4 (S345I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272341	NM_130849.4(SLC39A4):c.1303C>A (p.Pro435Thr)	SLC39A4 (P410T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 910706	NM_130849.4(SLC39A4):c.1279G>C (p.Asp427His)	SLC39A4 (D402H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605928	NM_130849.4(SLC39A4):c.1160T>C (p.Leu387Pro)	SLC39A4 (L293P +2 more)	Single nucleotide variant (missense variant)	SLC39A4-related condition +1 more	GUncertain significance
Select item 2607657	NM_130849.4(SLC39A4):c.1118C>T (p.Thr373Ile)	SLC39A4 (T373I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618438	NM_130849.4(SLC39A4):c.1021G>T (p.Ala341Ser)	SLC39A4 (A316S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2306803	NM_130849.4(SLC39A4):c.1001C>T (p.Thr334Met)	SLC39A4 (T334M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509531	NM_130849.4(SLC39A4):c.988G>A (p.Gly330Ser)	SLC39A4 (G236S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461345	NM_130849.4(SLC39A4):c.986A>C (p.Tyr329Ser)	SLC39A4 (Y235S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301006	NM_130849.4(SLC39A4):c.970T>C (p.Ser324Pro)	SLC39A4 (S230P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538775	NM_130849.4(SLC39A4):c.857C>T (p.Ala286Val)	SLC39A4 (A192V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392945	NM_130849.4(SLC39A4):c.730C>T (p.Arg244Trp)	SLC39A4 (R150W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1204083	NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met)	SLC39A4 (T126M +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +2 more	GUncertain significance
Select item 2401966	NM_130849.4(SLC39A4):c.577G>A (p.Gly193Arg)	SLC39A4 (G193R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511987	NM_130849.4(SLC39A4):c.541G>A (p.Gly181Ser)	SLC39A4 (G156S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726454	NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)	SLC39A4 (A148V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909067	NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val)	SLC39A4 (A76V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2591780	NM_130849.4(SLC39A4):c.489C>G (p.Ile163Met)	SLC39A4 (I138M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215063	NM_130849.4(SLC39A4):c.464C>T (p.Thr155Ile)	SLC39A4 (T155I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261742	NM_130849.4(SLC39A4):c.448C>T (p.Arg150Trp)	SLC39A4 (R125W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314992	NM_130849.4(SLC39A4):c.439A>T (p.Met147Leu)	SLC39A4 (M122L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474461	NM_130849.4(SLC39A4):c.371A>G (p.Asp124Gly)	SLC39A4 (D99G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225928	NM_130849.4(SLC39A4):c.343C>T (p.Arg115Trp)	SLC39A4 (R90W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726904	NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile)	SLC39A4 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica +2 more	GConflicting classifications of pathogenicity
Select item 2531669	NM_130849.4(SLC39A4):c.295G>T (p.Ala99Ser)	SLC39A4 (A74S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614887	NM_130849.4(SLC39A4):c.221T>C (p.Leu74Pro)	SLC39A4 (L49P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363156	NM_130849.4(SLC39A4):c.161G>A (p.Arg54His)	SLC39A4 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256186	NM_130849.4(SLC39A4):c.136G>A (p.Gly46Ser)	SLC39A4 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230303	NM_130849.4(SLC39A4):c.112G>A (p.Ala38Thr)	SLC39A4 (A38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294691	NM_130849.4(SLC39A4):c.59C>T (p.Ala20Val)	SLC39A4 (A20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2395345	NM_130849.4(SLC39A4):c.49G>T (p.Val17Leu)	SLC39A4 (V17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 49