SLC39A7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1043440	NM_006979.3(SLC39A7):c.5C>T (p.Ala2Val)	SLC39A7 (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1395259	NM_006979.3(SLC39A7):c.25dup (p.His9fs)	SLC39A7 (H9fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1970005	NM_006979.3(SLC39A7):c.27C>A (p.His9Gln)	SLC39A7 (H9Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959235	NM_006979.3(SLC39A7):c.33G>C (p.Val11=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1370362	NM_006979.3(SLC39A7):c.43C>A (p.Leu15Met)	SLC39A7 (L15M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183798	NM_006979.3(SLC39A7):c.50C>A (p.Thr17Asn)	SLC39A7 (T17N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 809917	NM_006979.3(SLC39A7):c.53G>A (p.Trp18Ter)	SLC39A7 (W18*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2805932	NM_006979.3(SLC39A7):c.70C>T (p.Leu24=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1913610	NM_006979.3(SLC39A7):c.73G>A (p.Val25Met)	SLC39A7 (V25M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1531429	NM_006979.3(SLC39A7):c.84C>T (p.Leu28=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1353737	NM_006979.3(SLC39A7):c.89dup (p.His31fs)	SLC39A7 (H31fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1411677	NM_006979.3(SLC39A7):c.89G>C (p.Gly30Ala)	SLC39A7 (G30A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1586779	NM_006979.3(SLC39A7):c.99C>T (p.Asp33=)	SLC39A7 (T3I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1593395	NM_006979.3(SLC39A7):c.102G>T (p.Leu34=)	SLC39A7 (C4F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409049	NM_006979.3(SLC39A7):c.148T>C (p.Ser50Pro)	SLC39A7 (S50P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2134502	NM_006979.3(SLC39A7):c.152A>G (p.His51Arg)	SLC39A7 (H51R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956482	NM_006979.3(SLC39A7):c.152A>T (p.His51Leu)	SLC39A7 (H51L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 779425	NM_006979.3(SLC39A7):c.160T>C (p.Phe54Leu)	SLC39A7 (F54L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2171639	NM_006979.3(SLC39A7):c.176_199dup (p.His66_Thr67insSerHisAlaHisGlyHisGlyHis)	SLC39A7	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1437580	NM_006979.3(SLC39A7):c.174_191del (p.Ser59_His64del)	SLC39A7	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1025943	NM_006979.3(SLC39A7):c.176_199del (p.Ser59_His66del)	SLC39A7	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 713939	NM_006979.3(SLC39A7):c.171C>A (p.Gly57=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1403833	NM_006979.3(SLC39A7):c.174C>G (p.His58Gln)	SLC39A7 (H58Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446029	NM_006979.3(SLC39A7):c.180_197del (p.Ala61_His66del)	SLC39A7	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1486280	NM_006979.3(SLC39A7):c.182_187del (p.Ala61_His62del)	SLC39A7	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1439089	NM_006979.3(SLC39A7):c.186TGGCCA[1] (p.63GH[1])	SLC39A7	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1431049	NM_006979.3(SLC39A7):c.199A>G (p.Thr67Ala)	SLC39A7 (T67A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2356124	NM_006979.3(SLC39A7):c.204C>G (p.His68Gln)	SLC39A7 (H68Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1524825	NM_006979.3(SLC39A7):c.211A>T (p.Ile71Phe)	SLC39A7 (I71F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092845	NM_006979.3(SLC39A7):c.226_227dup (p.His77fs)	SLC39A7 (H77fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2038757	NM_006979.3(SLC39A7):c.229C>T (p.His77Tyr)	SLC39A7 (H77Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779528	NM_006979.3(SLC39A7):c.231C>T (p.His77=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1167701	NM_006979.3(SLC39A7):c.259G>A (p.Asp87Asn)	SLC39A7 (D87N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2055409	NM_006979.3(SLC39A7):c.269A>G (p.His90Arg)	SLC39A7 (H90R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1492119	NM_006979.3(SLC39A7):c.331G>A (p.Glu111Lys)	SLC39A7 (E111K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876769	NM_006979.3(SLC39A7):c.346G>A (p.Gly116Ser)	SLC39A7 (G116S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167251	NM_006979.3(SLC39A7):c.370G>C (p.Gly124Arg)	SLC39A7 (G124R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2151306	NM_006979.3(SLC39A7):c.372C>T (p.Gly124=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1717433	NM_006979.3(SLC39A7):c.376A>C (p.Lys126Gln)	SLC39A7 (K126Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2223688	NM_006979.3(SLC39A7):c.400C>A (p.Leu134Ile)	SLC39A7 (L134I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3164730	NM_006979.3(SLC39A7):c.410A>C (p.Tyr137Ser)	SLC39A7 (Y137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1436955	NM_006979.3(SLC39A7):c.410A>T (p.Tyr137Phe)	SLC39A7 (Y137F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1911878	NM_006979.3(SLC39A7):c.411+12G>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654644	NM_006979.3(SLC39A7):c.411+20GA[5]	SLC39A7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1974173	NM_006979.3(SLC39A7):c.417G>A (p.Leu139=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 809918	NM_006979.3(SLC39A7):c.421G>A (p.Ala141Thr)	SLC39A7 (A141T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899510	NM_006979.3(SLC39A7):c.426A>G (p.Thr142=)	SLC39A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1931807	NM_006979.3(SLC39A7):c.428T>C (p.Val143Ala)	SLC39A7 (V18A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2620393	NM_006979.3(SLC39A7):c.461T>G (p.Phe154Cys)	SLC39A7 (F29C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710205	NM_006979.3(SLC39A7):c.471C>T (p.Pro157=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2555196	NM_006979.3(SLC39A7):c.483C>A (p.Asn161Lys)	SLC39A7 (N36K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2115536	NM_006979.3(SLC39A7):c.485C>G (p.Ser162Cys)	SLC39A7 (S162C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253141	NM_006979.3(SLC39A7):c.488C>G (p.Pro163Arg)	SLC39A7 (P38R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1897113	NM_006979.3(SLC39A7):c.490C>T (p.Arg164Trp)	SLC39A7 (R164W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842714	NM_006979.3(SLC39A7):c.497_498delinsCG (p.Arg166Pro)	SLC39A7 (R41P +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3319776	NM_006979.3(SLC39A7):c.500C>G (p.Ser167Cys)	SLC39A7 (S42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1084127	NM_006979.3(SLC39A7):c.504A>C (p.Leu168=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563328	NM_006979.3(SLC39A7):c.531C>T (p.Ser177=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040879	NM_006979.3(SLC39A7):c.543G>A (p.Leu181=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187441	NM_006979.3(SLC39A7):c.564C>G (p.Leu188=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507871	NM_006979.3(SLC39A7):c.568C>G (p.Pro190Ala)	SLC39A7 (P65A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1480389	NM_006979.3(SLC39A7):c.569C>T (p.Pro190Leu)	SLC39A7 (P190L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056586	NM_006979.3(SLC39A7):c.571C>T (p.His191Tyr)	SLC39A7 (H66Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297532	NM_006979.3(SLC39A7):c.578T>A (p.Leu193His)	SLC39A7 (L193H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183458	NM_006979.3(SLC39A7):c.580+10C>G	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752544	NM_006979.3(SLC39A7):c.580+12C>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628219	NM_006979.3(SLC39A7):c.580+16C>T	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1133993	NM_006979.3(SLC39A7):c.580+19C>T	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753869	NM_006979.3(SLC39A7):c.580+20T>G	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787224	NM_006979.3(SLC39A7):c.581-19T>C	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607671	NM_006979.3(SLC39A7):c.581-18T>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530794	NM_006979.3(SLC39A7):c.581-16T>C	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165480	NM_006979.3(SLC39A7):c.581-10C>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2785883	NM_006979.3(SLC39A7):c.600T>G (p.Thr200=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151569	NM_006979.3(SLC39A7):c.606G>A (p.Glu202=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941412	NM_006979.3(SLC39A7):c.609A>G (p.Gln203=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905272	NM_006979.3(SLC39A7):c.612C>T (p.Pro204=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130448	NM_006979.3(SLC39A7):c.613G>A (p.Gly205Arg)	SLC39A7 (G205R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1358689	NM_006979.3(SLC39A7):c.617A>G (p.His206Arg)	SLC39A7 (H206R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164496	NM_006979.3(SLC39A7):c.627C>G (p.Ser209=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2844063	NM_006979.3(SLC39A7):c.634+13_634+16dup	SLC39A7	Duplication (intron variant)	not provided	GLikely benign
Select item 1909992	NM_006979.3(SLC39A7):c.634+13C>G	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632496	NM_006979.3(SLC39A7):c.634+18G>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1123170	NM_006979.3(SLC39A7):c.634+19G>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538954	NM_006979.3(SLC39A7):c.635-12C>T	SLC39A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1722325	NM_006979.3(SLC39A7):c.635-3C>A	SLC39A7	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1371666	NM_006979.3(SLC39A7):c.635-3C>T	SLC39A7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2125662	NM_006979.3(SLC39A7):c.642C>T (p.Gly214=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101979	NM_006979.3(SLC39A7):c.645C>T (p.Pro215=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023965	NM_006979.3(SLC39A7):c.647T>C (p.Ile216Thr)	SLC39A7 (I91T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333090	NM_006979.3(SLC39A7):c.650T>C (p.Leu217Pro)	SLC39A7 (L92P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1349282	NM_006979.3(SLC39A7):c.653C>T (p.Ser218Phe)	SLC39A7 (S218F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809301	NM_006979.3(SLC39A7):c.663G>A (p.Leu221=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977037	NM_006979.3(SLC39A7):c.678A>C (p.Gly226=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187832	NM_006979.3(SLC39A7):c.682G>C (p.Val228Leu)	SLC39A7 (V228L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373211	NM_006979.3(SLC39A7):c.697G>A (p.Val233Met)	SLC39A7 (V108M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090509	NM_006979.3(SLC39A7):c.716_717del (p.His239fs)	SLC39A7 (H239fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 787824	NM_006979.3(SLC39A7):c.744T>C (p.His248=)	SLC39A7	Single nucleotide variant (synonymous variant)	not provided	GBenign

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