SLC39A8[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
Select item 2223788	NM_001135146.2(SLC39A8):c.676-4A>G	SLC39A8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2192952	NM_001135146.2(SLC39A8):c.676-9C>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920522	NM_001135146.2(SLC39A8):c.676-18G>T	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262860	NM_001135146.2(SLC39A8):c.676-66A>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253748	NM_001135146.2(SLC39A8):c.675+200dup	SLC39A8	Duplication (intron variant)	not provided	GBenign
Select item 1257836	NM_001135146.2(SLC39A8):c.675+199A>T	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260960	NM_001135146.2(SLC39A8):c.675+157T>C	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3004387	NM_001135146.2(SLC39A8):c.660A>G (p.Leu220=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736139	NM_001135146.2(SLC39A8):c.627T>G (p.Leu209=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304789	NM_001135146.2(SLC39A8):c.611G>T (p.Gly204Val)	SLC39A8 (G137V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 218897	NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	SLC39A8 (G204C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 871104	NM_001135146.2(SLC39A8):c.608T>C (p.Phe203Ser)	SLC39A8 (F136S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406209	NM_001135146.2(SLC39A8):c.571A>G (p.Lys191Glu)	SLC39A8 (K124E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236407	NM_001135146.2(SLC39A8):c.552+236C>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269652	NM_001135146.2(SLC39A8):c.552+48C>T	SLC39A8	Single nucleotide variant (intron variant)	SLC39A8-CDG +1 more	GBenign
Select item 1349908	NM_001135146.2(SLC39A8):c.552+7A>T	SLC39A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2246159	NM_001135146.2(SLC39A8):c.552+6G>T	SLC39A8	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2081564	NM_001135146.2(SLC39A8):c.552+1G>A	SLC39A8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2070066	NM_001135146.2(SLC39A8):c.532A>C (p.Ile178Leu)	SLC39A8 (I111L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580425	NM_001135146.2(SLC39A8):c.524C>G (p.Ser175Ter)	SLC39A8 (S108* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 420674	NM_001135146.2(SLC39A8):c.523dup (p.Ser175fs)	SLC39A8 (S175fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1996919	NM_001135146.2(SLC39A8):c.521T>C (p.Phe174Ser)	SLC39A8 (F107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338988	NM_001135146.2(SLC39A8):c.513G>T (p.Gly171=)	SLC39A8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1679260	NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala)	SLC39A8 (G100A +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 3253136	NM_001135146.2(SLC39A8):c.495del (p.Phe165fs)	SLC39A8 (F165fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 743544	NM_001135146.2(SLC39A8):c.477A>G (p.Pro159=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509383	NM_001135146.2(SLC39A8):c.463A>C (p.Lys155Gln)	SLC39A8 (K88Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302645	NM_001135146.2(SLC39A8):c.446dup (p.Leu149fs)	SLC39A8 (L149fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1245342	NM_001135146.2(SLC39A8):c.411G>A (p.Thr137=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1690812	NM_001135146.2(SLC39A8):c.410C>T (p.Thr137Met)	SLC39A8 (T137M +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2122054	NM_001135146.2(SLC39A8):c.389G>T (p.Gly130Val)	SLC39A8 (G130V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306968	NM_001135146.2(SLC39A8):c.383-2A>G	SLC39A8	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1240710	NM_001135146.2(SLC39A8):c.383-68G>A	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232099	NM_001135146.2(SLC39A8):c.383-214C>T	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803420	NM_001135146.2(SLC39A8):c.382+1_382+12del	SLC39A8	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2663189	NM_001135146.2(SLC39A8):c.382+2T>C	SLC39A8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1939284	NM_001135146.2(SLC39A8):c.360A>C (p.Lys120Asn)	SLC39A8 (K53N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426672	NM_001135146.2(SLC39A8):c.357del (p.His119fs)	SLC39A8 (H119fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2597607	NM_001135146.2(SLC39A8):c.346C>T (p.Arg116Trp)	SLC39A8 (R116W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 869411	NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)	SLC39A8 (C113S +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GLikely pathogenic
Select item 635074	NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)	SLC39A8 (C113R +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 2981279	NM_001135146.2(SLC39A8):c.322T>C (p.Leu108=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546327	NM_001135146.2(SLC39A8):c.310_320del (p.Val104fs)	SLC39A8 (V104fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1030798	NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)	SLC39A8 (Q106* +1 more)	Single nucleotide variant (nonsense)	SLC39A8-CDG	GLikely pathogenic
Select item 2991041	NM_001135146.2(SLC39A8):c.309A>T (p.Ala103=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717728	NM_001135146.2(SLC39A8):c.274A>C (p.Ile92Leu)	SLC39A8 (I25L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2375103	NM_001135146.2(SLC39A8):c.272A>T (p.Gln91Leu)	SLC39A8 (Q24L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798861	NM_001135146.2(SLC39A8):c.228T>C (p.Thr76=)	SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338977	NM_001135146.2(SLC39A8):c.227C>T (p.Thr76Ile)	SLC39A8 (T76I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1220756	NM_001135146.2(SLC39A8):c.220-26dup	SLC39A8	Duplication (intron variant)	not provided	GBenign
Select item 1629950	NM_001135146.2(SLC39A8):c.220-17del	SLC39A8	Deletion (intron variant)	not provided	GBenign
Select item 1291126	NM_001135146.2(SLC39A8):c.220-206dup	SLC39A8	Duplication (intron variant)	not provided	GBenign
Select item 1193203	NM_001135146.2(SLC39A8):c.220-196del	SLC39A8	Deletion (intron variant)	not provided	GLikely benign
Select item 1232871	NM_001135146.2(SLC39A8):c.219+258T>G	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264841	NM_001135146.2(SLC39A8):c.219+70G>C	SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1970314	NM_001135146.2(SLC39A8):c.219+18G>C	SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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