ClinVar for MedGen (Select 66355) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254617	NM_130849.4(SLC39A4):c.14_17delinsCCCCA (p.Val5fs)	SLC39A4 (V5fs)	Indel (frameshift variant)	Hereditary acrodermatitis enteropathica	GPathogenic
Select item 3065417	NM_130849.4(SLC39A4):c.605del (p.Pro202fs)	SLC39A4 (P108fs +2 more)	Deletion (frameshift variant)	Hereditary acrodermatitis enteropathica	GLikely pathogenic
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 2503441	NM_130849.4(SLC39A4):c.1534G>T (p.Gly512Trp)	SLC39A4, LOC130001397 (G14W +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GConflicting classifications of pathogenicity
Select item 2436027	NM_130849.4(SLC39A4):c.178G>A (p.Gly60Arg)	SLC39A4 (G60R)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
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 1484281	NM_130849.4(SLC39A4):c.977-1G>A	SLC39A4	Single nucleotide variant (splice acceptor variant)	Hereditary acrodermatitis enteropathica +1 more	GLikely pathogenic
Select item 1481691	NM_130849.4(SLC39A4):c.475-2A>G	SLC39A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1456654	NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer)	SLC39A4	Deletion (nonsense)	Hereditary acrodermatitis enteropathica +1 more	GPathogenic/Likely pathogenic
Select item 1455861	NM_130849.4(SLC39A4):c.192+19G>A	SLC39A4	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1209795	NM_130849.4(SLC39A4):c.264G>A (p.Leu88=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	Hereditary acrodermatitis enteropathica	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 1185276	NM_130849.4(SLC39A4):c.193-89A>C	SLC39A4 (E10A)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica +1 more	GBenign
Select item 1185232	NM_130849.4(SLC39A4):c.1287+22C>G	SLC39A4	Single nucleotide variant (intron variant)	Hereditary acrodermatitis enteropathica +1 more	GBenign
Select item 1170824	NM_130849.4(SLC39A4):c.193-113T>C	SLC39A4 (V2A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1167615	NM_130849.4(SLC39A4):c.150G>A (p.Thr50=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1166629	NM_130849.4(SLC39A4):c.1149+10C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1156028	NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121725	NM_130849.4(SLC39A4):c.723C>T (p.His241=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075429	NM_130849.4(SLC39A4):c.1066del (p.Val356fs)	SLC39A4 (V262fs +2 more)	Deletion (frameshift variant)	Hereditary acrodermatitis enteropathica +1 more	GPathogenic/Likely pathogenic
Select item 1069887	NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)	SLC39A4 (W307* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 991256	NM_130849.4(SLC39A4):c.92T>A (p.Leu31Gln)	SLC39A4 (L31Q)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 990606	NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu)	SLC39A4 (P61L)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 990605	NM_130849.4(SLC39A4):c.193-7C>T	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 990604	NM_130849.4(SLC39A4):c.324G>A (p.Glu108=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 990603	NM_130849.4(SLC39A4):c.456C>T (p.Ala152=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 990602	NM_130849.4(SLC39A4):c.1059C>G (p.Cys353Trp)	SLC39A4 (C259W +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 990601	NM_130849.4(SLC39A4):c.1066G>T (p.Val356Phe)	SLC39A4 (V262F +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 990600	NM_130849.4(SLC39A4):c.1118C>G (p.Thr373Ser)	SLC39A4 (T279S +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 990599	NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His)	SLC39A4 (P370H +2 more)	Single nucleotide variant (missense 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 985707	NM_130849.4(SLC39A4):c.1465_1474+4del	SLC39A4	Deletion (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 969229	NM_130849.4(SLC39A4):c.1149+2T>C	SLC39A4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 912045	NM_130849.4(SLC39A4):c.104G>C (p.Gly35Ala)	SLC39A4 (G35A)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 912044	NM_130849.4(SLC39A4):c.138C>A (p.Gly46=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 911987	NM_130849.4(SLC39A4):c.538G>A (p.Gly180Ser)	SLC39A4 (G155S +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 911888	NM_130849.4(SLC39A4):c.1735G>C (p.Val579Leu)	SLC39A4 (V485L +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	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 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 911885	NM_130849.4(SLC39A4):c.*28C>T	SLC39A4	Single nucleotide variant (3 prime UTR variant)	Hereditary acrodermatitis enteropathica	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 910821	NM_130849.4(SLC39A4):c.235G>A (p.Gly79Arg)	SLC39A4 (G54R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 910766	NM_130849.4(SLC39A4):c.666C>T (p.Ala222=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 910707	NM_130849.4(SLC39A4):c.1225G>C (p.Gly409Arg)	SLC39A4 (G409R +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	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 910705	NM_130849.4(SLC39A4):c.1284G>A (p.Pro428=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910704	NM_130849.4(SLC39A4):c.1319G>C (p.Ser440Thr)	SLC39A4 (S346T +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909921	NM_130849.4(SLC39A4):c.277G>A (p.Val93Ile)	SLC39A4 (V93I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909870	NM_130849.4(SLC39A4):c.848C>T (p.Ser283Leu)	SLC39A4 (S258L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909806	NM_130849.4(SLC39A4):c.1371C>T (p.Ser457=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909805	NM_130849.4(SLC39A4):c.1384C>T (p.Pro462Ser)	SLC39A4 (P462S +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909804	NM_130849.4(SLC39A4):c.1409G>A (p.Arg470His)	SLC39A4 (R445H +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909803	NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=)	SLC39A4	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 909136	NM_130849.3(SLC39A4):c.-118G>A	SLC39A4	Single nucleotide variant	Hereditary acrodermatitis enteropathica	GLikely benign
Select item 909135	NM_130849.3(SLC39A4):c.-90T>C	SLC39A4	Single nucleotide variant	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909068	NM_130849.4(SLC39A4):c.435G>C (p.Gln145His)	SLC39A4 (Q120H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 909067	NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val)	SLC39A4 (A76V +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +1 more	GUncertain significance
Select item 909066	NM_130849.4(SLC39A4):c.510G>A (p.Ala170=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909007	NM_130849.4(SLC39A4):c.976+15C>T	SLC39A4	Single nucleotide variant (intron variant)	Hereditary acrodermatitis enteropathica +1 more	GBenign/Likely benign
Select item 909006	NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val)	SLC39A4 (A247V +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 908944	NM_130849.4(SLC39A4):c.1429G>A (p.Glu477Lys)	SLC39A4 (E383K +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 908943	NM_130849.4(SLC39A4):c.1529C>G (p.Ala510Gly)	LOC130001397, SLC39A4 (A12G +3 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica	GUncertain significance
Select item 908942	NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=)	LOC130001397, SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 798712	NM_130849.4(SLC39A4):c.1628-10T>C	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798437	NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794888	NM_130849.4(SLC39A4):c.591C>T (p.His197=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794396	NM_130849.4(SLC39A4):c.527C>T (p.Pro176Leu)	SLC39A4 (P82L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 793384	NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)	SLC39A4 (E191K +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 792431	NM_130849.4(SLC39A4):c.558G>C (p.Leu186=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787882	NM_130849.4(SLC39A4):c.10C>T (p.Leu4=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782521	NM_130849.4(SLC39A4):c.504G>A (p.Glu168=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 776397	NM_130849.4(SLC39A4):c.66G>A (p.Ala22=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776396	NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu)	SLC39A4 (V43L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 766169	NM_130849.4(SLC39A4):c.216G>A (p.Leu72=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 765836	NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 765489	NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764839	NM_130849.4(SLC39A4):c.210C>T (p.Asp70=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 764658	NM_130849.4(SLC39A4):c.300C>T (p.Ala100=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 764131	NM_130849.4(SLC39A4):c.193-8G>C	SLC39A4 (C37S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 763635	NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr)	SLC39A4 (N327Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 763618	NM_130849.4(SLC39A4):c.54G>A (p.Val18=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763346	NM_130849.4(SLC39A4):c.359C>T (p.Ala120Val)	SLC39A4 (A120V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 762895	NM_130849.4(SLC39A4):c.1204C>T (p.Arg402Cys)	SLC39A4 (R402C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 761709	NM_130849.4(SLC39A4):c.1149+9C>T	SLC39A4	Single nucleotide variant (intron variant)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 760725	NM_130849.4(SLC39A4):c.540C>T (p.Gly180=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756692	NM_130849.4(SLC39A4):c.225C>T (p.Gly75=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 755159	NM_130849.4(SLC39A4):c.1452T>A (p.Pro484=)	SLC39A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 753047	NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 752533	NM_130849.4(SLC39A4):c.1149+8C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 752228	NM_130849.4(SLC39A4):c.480C>T (p.Cys160=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751753	NM_130849.4(SLC39A4):c.1149+7C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751322	NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica +1 more	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 744582	NM_130849.4(SLC39A4):c.1461G>A (p.Arg487=)	SLC39A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 742303	NM_130849.4(SLC39A4):c.76G>T (p.Ala26Ser)	SLC39A4 (A26S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 742269	NM_130849.4(SLC39A4):c.543C>T (p.Gly181=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741302	NM_130849.4(SLC39A4):c.297C>T (p.Ala99=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	Hereditary acrodermatitis enteropathica +1 more	GLikely benign
Select item 739176	NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737898	NM_130849.4(SLC39A4):c.1323T>C (p.His441=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 736922	NM_130849.4(SLC39A4):c.321C>T (p.Pro107=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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