SLC39A8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 148914	GRCh38/hg38 4q24(chr4:101562032-102292685)x3	BANK1, LOC121053190 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1238663	NM_001135147.1(SLC39A8):c.*270G>A	SLC39A8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1247560	NM_001135147.1(SLC39A8):c.*262dup	SLC39A8	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1247122	NM_001135147.1(SLC39A8):c.*258G>A	SLC39A8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1272653	NM_001135147.1(SLC39A8):c.*154A>G	SLC39A8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242026	NM_001135147.1(SLC39A8):c.*88T>C	SLC39A8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1188541	NM_001135147.1(SLC39A8):c.1327-66A>C	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280996	NM_001135147.1(SLC39A8):c.1327-141A>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238127	NM_001135147.1(SLC39A8):c.1327-232C>T	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051072	NM_001135147.1(SLC39A8):c.1267-4G>C	SLC39A8	Single nucleotide variant (intron variant)	SLC39A8-related disorder	GLikely benign
Select item 1178719	NM_001135147.1(SLC39A8):c.1267-204G>A	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2436030	NM_001135146.2(SLC39A8):c.*1062C>T	SLC39A8	Single nucleotide variant (3 prime UTR variant +1 more)	SLC39A8-CDG	GUncertain significance
Select item 1274972	NM_001135146.2(SLC39A8):c.*266A>G	SLC39A8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269086	NM_001135146.2(SLC39A8):c.*137G>A	SLC39A8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1178220	NM_001135146.2(SLC39A8):c.*112T>C	SLC39A8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2009876	NM_001135146.2(SLC39A8):c.1380G>A (p.Glu460=)	SLC39A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2436029	NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)	SLC39A8 (E391Q +1 more)	Single nucleotide variant (missense variant +1 more)	SLC39A8-CDG	GUncertain significance
Select item 739852	NM_001135146.2(SLC39A8):c.1371C>T (p.Ile457=)	SLC39A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997549	NM_001135146.2(SLC39A8):c.1359T>C (p.Tyr453=)	SLC39A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1660980	NM_001135146.2(SLC39A8):c.1345C>T (p.Leu449Phe)	SLC39A8 (L382F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1994321	NM_001135146.2(SLC39A8):c.1337C>A (p.Ala446Asp)	SLC39A8 (A446D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3319781	NM_001135146.2(SLC39A8):c.1301T>C (p.Met434Thr)	SLC39A8 (M434T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2012361	NM_001135146.2(SLC39A8):c.1287T>C (p.Asp429=)	SLC39A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1686211	NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)	SLC39A8 (T361I +1 more)	Single nucleotide variant (missense variant +1 more)	SLC39A8-CDG	GPathogenic
Select item 1967629	NM_001135146.2(SLC39A8):c.1259G>C (p.Arg420Thr)	SLC39A8 (R353T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918531	NM_001135146.2(SLC39A8):c.1253T>C (p.Met418Thr)	SLC39A8 (M351T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652729	NM_001135146.2(SLC39A8):c.1234-11C>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906743	NM_001135146.2(SLC39A8):c.1234-18A>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282004	NM_001135146.2(SLC39A8):c.1234-240A>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302804	NM_001135146.2(SLC39A8):c.1234-264G>A	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225937	NM_001135146.2(SLC39A8):c.1234-302C>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243102	NM_001135146.2(SLC39A8):c.1233+230del	SLC39A8	Deletion (intron variant)	not provided	GBenign
Select item 1706884	NM_001135146.2(SLC39A8):c.1233+169C>T	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190457	NM_001135146.2(SLC39A8):c.1233+153A>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919894	NM_001135146.2(SLC39A8):c.1233+15A>G	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925794	NM_001135146.2(SLC39A8):c.1191A>G (p.Ala397=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1271175	NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr)	LOC126807125, SLC39A8 (A324T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725577	NM_001135146.2(SLC39A8):c.1170C>T (p.Phe390=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 424603	NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)	LOC126807125, SLC39A8 (N389S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2087000	NM_001135146.2(SLC39A8):c.1131T>C (p.Tyr377=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3237493	NM_001135146.2(SLC39A8):c.1120T>A (p.Cys374Ser)	LOC126807125, SLC39A8 (C307S +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 432927	NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)	LOC126807125, SLC39A8 (L366fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2722641	NM_001135146.2(SLC39A8):c.1093G>A (p.Ala365Thr)	LOC126807125, SLC39A8 (A298T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 429636	NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg)	SLC39A8, LOC126807125 (Q364R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810718	NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg)	LOC126807125, SLC39A8 (G359R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006579	NM_001135146.2(SLC39A8):c.1071T>C (p.Asn357=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032541	NM_001135146.2(SLC39A8):c.1049-17TCT[6]	LOC126807125, SLC39A8	Microsatellite (intron variant)	SLC39A8-related disorder	GLikely benign
Select item 1937945	NM_001135146.2(SLC39A8):c.1049-17TCT[7]	LOC126807125, SLC39A8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 672166	NM_001135146.2(SLC39A8):c.1049-17TCT[4]	LOC126807125, SLC39A8	Microsatellite (intron variant)	not provided	GBenign
Select item 742147	NM_001135146.2(SLC39A8):c.1049-6T>C	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167233	NM_001135146.2(SLC39A8):c.1049-10C>A	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911946	NM_001135146.2(SLC39A8):c.1049-12T>A	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903619	NM_001135146.2(SLC39A8):c.1049-13C>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196818	NM_001135146.2(SLC39A8):c.1049-44dup	LOC126807125, SLC39A8	Duplication (intron variant)	not provided	GLikely benign
Select item 1175666	NM_001135146.2(SLC39A8):c.1049-44_1049-43dup	LOC126807125, SLC39A8	Duplication (intron variant)	not provided	GBenign
Select item 1967800	NM_001135146.2(SLC39A8):c.1048+3A>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973687	NM_001135146.2(SLC39A8):c.1042G>A (p.Glu348Lys)	LOC126807125, SLC39A8 (E348K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242477	NM_001135146.2(SLC39A8):c.1041C>T (p.His347=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1030797	NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)	LOC126807125, SLC39A8 (C342* +1 more)	Single nucleotide variant (nonsense)	SLC39A8-CDG	GLikely pathogenic
Select item 1030796	NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)	LOC126807125, SLC39A8 (I273M +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 218896	NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	LOC126807125, SLC39A8 (I340N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3164732	NM_001135146.2(SLC39A8):c.1007C>A (p.Thr336Asn)	LOC126807125, SLC39A8 (T269N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242447	NM_001135146.2(SLC39A8):c.1004G>C (p.Ser335Thr)	LOC126807125, SLC39A8 (S335T +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 383789	NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter)	LOC126807125, SLC39A8 (C326* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1181411	NM_001135146.2(SLC39A8):c.966del (p.Ile322fs)	LOC126807125, SLC39A8 (I255fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1013495	NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	LOC126807125, SLC39A8 (I255T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2905401	NM_001135146.2(SLC39A8):c.963G>A (p.Ala321=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902084	NM_001135146.2(SLC39A8):c.960G>C (p.Leu320=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046833	NM_001135146.2(SLC39A8):c.951C>T (p.Ile317=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	SLC39A8-related disorder	GLikely benign
Select item 1810741	NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe)	LOC126807125, SLC39A8	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1678504	NM_001135146.2(SLC39A8):c.931G>A (p.Asp311Asn)	LOC126807125, SLC39A8 (D244N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988210	NM_001135146.2(SLC39A8):c.930C>T (p.Cys310=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030799	NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)	LOC126807125, SLC39A8 (T241M +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 800792	NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)	LOC126807125, SLC39A8 (W238C +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 3319780	NM_001135146.2(SLC39A8):c.902G>A (p.Gly301Glu)	LOC126807125, SLC39A8 (G234E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164734	NM_001135146.2(SLC39A8):c.880G>A (p.Gly294Arg)	LOC126807125, SLC39A8 (G227R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253444	NM_001135146.2(SLC39A8):c.876G>C (p.Leu292Phe)	LOC126807125, SLC39A8 (L225F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2516067	NM_001135146.2(SLC39A8):c.872G>C (p.Cys291Ser)	LOC126807125, SLC39A8 (C224S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364874	NM_001135146.2(SLC39A8):c.863del (p.Ser288fs)	LOC126807125, SLC39A8 (S221fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2365416	NM_001135146.2(SLC39A8):c.842A>G (p.Asp281Gly)	LOC126807125, SLC39A8 (D214G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1486256	NM_001135146.2(SLC39A8):c.841G>A (p.Asp281Asn)	LOC126807125, SLC39A8 (D214N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928850	NM_001135146.2(SLC39A8):c.841-9T>G	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2811718	NM_001135146.2(SLC39A8):c.841-13G>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278196	NM_001135146.2(SLC39A8):c.841-109T>C	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265547	NM_001135146.2(SLC39A8):c.841-180C>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266911	NM_001135146.2(SLC39A8):c.841-186G>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218602	NM_001135146.2(SLC39A8):c.841-201G>A	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230200	NM_001135146.2(SLC39A8):c.840+219T>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309942	NM_001135146.2(SLC39A8):c.840+2T>C	SLC39A8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2069194	NM_001135146.2(SLC39A8):c.824G>T (p.Ser275Ile)	SLC39A8 (S208I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319777	NM_001135146.2(SLC39A8):c.814G>C (p.Asp272His)	SLC39A8 (D272H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1249136	NM_001135146.2(SLC39A8):c.801A>G (p.Gly267=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1972787	NM_001135146.2(SLC39A8):c.783T>A (p.Ala261=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364873	NM_001135146.2(SLC39A8):c.781G>A (p.Ala261Thr)	SLC39A8 (A194T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265358	NM_001135146.2(SLC39A8):c.758G>T (p.Gly253Val)	SLC39A8 (G186V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1956343	NM_001135146.2(SLC39A8):c.751A>G (p.Ile251Val)	SLC39A8 (I184V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732461	NM_001135146.2(SLC39A8):c.745C>G (p.Pro249Ala)	SLC39A8 (P249A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2548481	NM_001135146.2(SLC39A8):c.716A>G (p.Gln239Arg)	SLC39A8 (Q172R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477472	NM_001135146.2(SLC39A8):c.689A>G (p.His230Arg)	SLC39A8 (H230R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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