SLC39A4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 911884	NM_130849.4(SLC39A4):c.*61A>G	SLC39A4	Single nucleotide variant (3 prime UTR variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 911885	NM_130849.4(SLC39A4):c.*28C>T	SLC39A4	Single nucleotide variant (3 prime UTR variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 990598	NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile)	SLC39A4 (T148I +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 2959476	NM_130849.4(SLC39A4):c.1935C>T (p.Ile645=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652719	NM_130849.4(SLC39A4):c.1932C>T (p.Asp644=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911886	NM_130849.4(SLC39A4):c.1924G>A (p.Glu642Lys)	SLC39A4 (E144K +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 1669279	NM_130849.4(SLC39A4):c.1923C>T (p.Tyr641=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099776	NM_130849.4(SLC39A4):c.1918C>T (p.Leu640=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160987	NM_130849.4(SLC39A4):c.1911G>T (p.Leu637=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124398	NM_130849.4(SLC39A4):c.1909C>T (p.Leu637=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832375	NM_130849.4(SLC39A4):c.1906C>T (p.Leu636=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656128	NM_130849.4(SLC39A4):c.1905G>T (p.Leu635=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765489	NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585825	NM_130849.4(SLC39A4):c.1899C>T (p.Thr633=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306655	NM_130849.4(SLC39A4):c.1898C>T (p.Thr633Ile)	SLC39A4 (T135I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429357	NM_130849.4(SLC39A4):c.1896G>A (p.Trp632Ter)	SLC39A4 (W632* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1558472	NM_130849.4(SLC39A4):c.1893C>T (p.Gly631=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140381	NM_130849.4(SLC39A4):c.1893C>G (p.Gly631=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133263	NM_130849.4(SLC39A4):c.1890C>T (p.Gly630=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433455	NM_130849.4(SLC39A4):c.1888G>C (p.Gly630Arg)	SLC39A4 (G132R +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GLikely pathogenic
Select item 1583459	NM_130849.4(SLC39A4):c.1884G>A (p.Leu628=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125461	NM_130849.4(SLC39A4):c.1884G>T (p.Leu628=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100524	NM_130849.4(SLC39A4):c.1884G>C (p.Leu628=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872266	NM_130849.4(SLC39A4):c.1882C>T (p.Leu628=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794229	NM_130849.4(SLC39A4):c.1875C>T (p.Asn625=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013745	NM_130849.4(SLC39A4):c.1872C>T (p.His624=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101812	NM_130849.4(SLC39A4):c.1869G>T (p.Leu623=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065099	NM_130849.4(SLC39A4):c.1868T>C (p.Leu623Pro)	SLC39A4 (L125P +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 1080389	NM_130849.4(SLC39A4):c.1866G>C (p.Leu622=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909293	NM_130849.4(SLC39A4):c.1864C>T (p.Leu622=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662491	NM_130849.4(SLC39A4):c.1860C>T (p.Leu620=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648588	NM_130849.4(SLC39A4):c.1857C>T (p.Leu619=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086584	NM_130849.4(SLC39A4):c.1857C>A (p.Leu619=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746321	NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1124715	NM_130849.4(SLC39A4):c.1845G>A (p.Pro615=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 911887	NM_130849.4(SLC39A4):c.1837C>T (p.Arg613Trp)	SLC39A4 (R115W +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 1663859	NM_130849.4(SLC39A4):c.1836A>C (p.Val612=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671318	NM_130849.4(SLC39A4):c.1824G>T (p.Ala608=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1085698	NM_130849.4(SLC39A4):c.1824G>A (p.Ala608=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149451	NM_130849.4(SLC39A4):c.1821G>C (p.Pro607=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543946	NM_130849.4(SLC39A4):c.1818C>A (p.Leu606=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665983	NM_130849.4(SLC39A4):c.1816-4T>C	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556895	NM_130849.4(SLC39A4):c.1816-4T>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124631	NM_130849.4(SLC39A4):c.1816-5C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769888	NM_130849.4(SLC39A4):c.1816-8C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612238	NM_130849.4(SLC39A4):c.1816-9G>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910882	NM_130849.4(SLC39A4):c.1816-13A>C	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907063	NM_130849.4(SLC39A4):c.1816-13A>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733371	NM_130849.4(SLC39A4):c.1816-13A>G	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707059	NM_130849.4(SLC39A4):c.1816-14C>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859634	NM_130849.4(SLC39A4):c.1816-15C>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737337	NM_130849.4(SLC39A4):c.1815+17G>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724215	NM_130849.4(SLC39A4):c.1815+14G>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840367	NM_130849.4(SLC39A4):c.1815+9G>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955432	NM_130849.4(SLC39A4):c.1809C>T (p.Cys603=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582560	NM_130849.4(SLC39A4):c.1806C>T (p.Leu602=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563062	NM_130849.4(SLC39A4):c.1806C>G (p.Leu602=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143908	NM_130849.4(SLC39A4):c.1803A>G (p.Ala601=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1109595	NM_130849.4(SLC39A4):c.1791C>T (p.Phe597=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123793	NM_130849.4(SLC39A4):c.1788G>A (p.Leu596=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982157	NM_130849.4(SLC39A4):c.1785C>A (p.Gly595=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136216	NM_130849.4(SLC39A4):c.1782C>G (p.Thr594=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140753	NM_130849.4(SLC39A4):c.1779C>T (p.Ala593=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1112270	NM_130849.4(SLC39A4):c.1776G>A (p.Val592=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159901	NM_130849.4(SLC39A4):c.1773A>C (p.Ala591=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645452	NM_130849.4(SLC39A4):c.1768C>T (p.Leu590=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127408	NM_130849.4(SLC39A4):c.1767C>A (p.Ile589=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098219	NM_130849.4(SLC39A4):c.1767C>T (p.Ile589=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1457500	NM_130849.4(SLC39A4):c.1763G>A (p.Trp588Ter)	SLC39A4 (W563* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2818887	NM_130849.4(SLC39A4):c.1761C>G (p.Ala587=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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