C0221036[trait identifier] AND "Natera, Inc."[submitter] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 765489	NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=)	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 731046	NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)	SLC39A4	Single nucleotide variant (synonymous variant)	SLC39A4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 709462	NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=)	SLC39A4	Single nucleotide variant (synonymous variant)	SLC39A4-related condition +1 more	GBenign/Likely benign
Select item 709222	NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 798712	NM_130849.4(SLC39A4):c.1628-10T>C	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 362232	NM_130849.4(SLC39A4):c.1495A>G (p.Met499Val)	SLC39A4 (M499V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 737898	NM_130849.4(SLC39A4):c.1323T>C (p.His441=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica +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 798437	NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=)	SLC39A4	Single nucleotide variant (synonymous variant)	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 1069887	NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)	SLC39A4 (W307* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1166629	NM_130849.4(SLC39A4):c.1149+10C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GBenign
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 752533	NM_130849.4(SLC39A4):c.1149+8C>T	SLC39A4	Single nucleotide variant (intron variant)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 751753	NM_130849.4(SLC39A4):c.1149+7C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 969229	NM_130849.4(SLC39A4):c.1149+2T>C	SLC39A4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 362239	NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala)	SLC39A4 (T381A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 362240	NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)	SLC39A4 (A376T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 362242	NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)	SLC39A4 (T357A +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +2 more	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 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 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 739176	NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 362244	NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 362245	NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 362247	NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)	SLC39A4 (E284K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 362249	NM_130849.4(SLC39A4):c.804+9C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 722133	NM_130849.4(SLC39A4):c.744C>T (p.Ala248=)	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 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 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 362253	NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713862	NM_130849.4(SLC39A4):c.595T>C (p.Leu199=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 362254	NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 794888	NM_130849.4(SLC39A4):c.591C>T (p.His197=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792431	NM_130849.4(SLC39A4):c.558G>C (p.Leu186=)	SLC39A4	Single nucleotide variant (synonymous 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 760725	NM_130849.4(SLC39A4):c.540C>T (p.Gly180=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 362256	NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys)	SLC39A4 (S178C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 726454	NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)	SLC39A4 (A148V +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +2 more	GConflicting classifications of pathogenicity
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 752228	NM_130849.4(SLC39A4):c.480C>T (p.Cys160=)	SLC39A4	Single nucleotide variant (synonymous variant)	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 726518	NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 362260	NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)	SLC39A4 (A114T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 719022	NM_130849.4(SLC39A4):c.339C>T (p.Asp113=)	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)	SLC39A4-related condition +1 more	GLikely benign
Select item 736922	NM_130849.4(SLC39A4):c.321C>T (p.Pro107=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 726904	NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile)	SLC39A4 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica +2 more	GConflicting classifications of pathogenicity
Select item 764658	NM_130849.4(SLC39A4):c.300C>T (p.Ala100=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	SLC39A4-related condition +1 more	GLikely benign
Select item 741302	NM_130849.4(SLC39A4):c.297C>T (p.Ala99=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 721078	NM_130849.4(SLC39A4):c.294C>T (p.Ala98=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 732377	NM_130849.4(SLC39A4):c.285C>T (p.Arg95=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362261	NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica +1 more	GBenign
Select item 721030	NM_130849.4(SLC39A4):c.258G>A (p.Pro86=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 362262	NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	SLC39A4 (P86L +1 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +1 more	GConflicting classifications of pathogenicity
Select item 362263	NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)	SLC39A4 (P84L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 756692	NM_130849.4(SLC39A4):c.225C>T (p.Gly75=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	SLC39A4-related condition +1 more	GBenign/Likely 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 753047	NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 990605	NM_130849.4(SLC39A4):c.193-7C>T	SLC39A4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1185276	NM_130849.4(SLC39A4):c.193-89A>C	SLC39A4 (E10A)	Single nucleotide variant (missense variant +1 more)	not provided +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 736629	NM_130849.4(SLC39A4):c.192+7G>A	SLC39A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 362265	NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr)	SLC39A4 (A58T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1167615	NM_130849.4(SLC39A4):c.150G>A (p.Thr50=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 734265	NM_130849.4(SLC39A4):c.87G>A (p.Leu29=)	SLC39A4	Single nucleotide variant (synonymous variant)	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 776397	NM_130849.4(SLC39A4):c.66G>A (p.Ala22=)	SLC39A4	Single nucleotide variant (synonymous variant)	SLC39A4-related condition +1 more	GBenign/Likely benign
Select item 362267	NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 787882	NM_130849.4(SLC39A4):c.10C>T (p.Leu4=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Items: 84