SLC11A1[gene] and "single gene"[properties] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511431	NM_000578.4(SLC11A1):c.34G>A (p.Gly12Arg)	SLC11A1 (G12R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3025428	NM_000578.4(SLC11A1):c.36G>A (p.Gly12=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403698	NM_000578.4(SLC11A1):c.62C>T (p.Pro21Leu)	SLC11A1 (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362137	NM_000578.4(SLC11A1):c.71C>T (p.Pro24Leu)	SLC11A1 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055747	NM_000578.4(SLC11A1):c.115C>T (p.Leu39=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related disorder	GBenign
Select item 3162799	NM_000578.4(SLC11A1):c.143C>T (p.Thr48Ile)	SLC11A1 (T48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263847	NM_000578.4(SLC11A1):c.149C>T (p.Pro50Leu)	SLC11A1 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328057	NM_000578.4(SLC11A1):c.155C>T (p.Thr52Ile)	SLC11A1 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 9232	NM_000578.4(SLC11A1):c.198C>T (p.Phe66=)	SLC11A1	Single nucleotide variant (synonymous variant)	Mycobacterium tuberculosis, susceptibility to infection by	Grisk factor
Select item 3318796	NM_000578.4(SLC11A1):c.203T>A (p.Met68Lys)	SLC11A1 (M68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557974	NM_000578.4(SLC11A1):c.220G>C (p.Asp74His)	SLC11A1 (D74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162800	NM_000578.4(SLC11A1):c.256G>A (p.Ala86Thr)	SLC11A1 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234346	NM_000578.4(SLC11A1):c.296C>T (p.Ala99Val)	SLC11A1 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162801	NM_000578.4(SLC11A1):c.307G>T (p.Gly103Cys)	SLC11A1 (G103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762252	NM_000578.4(SLC11A1):c.324A>T (p.Arg108=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526007	NM_000578.4(SLC11A1):c.367G>A (p.Glu123Lys)	SLC11A1 (E123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162802	NM_000578.4(SLC11A1):c.373T>A (p.Cys125Ser)	SLC11A1 (C125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318795	NM_000578.4(SLC11A1):c.382T>C (p.Tyr128His)	SLC11A1 (Y128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469782	NM_000578.4(SLC11A1):c.406G>A (p.Val136Ile)	SLC11A1 (V136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463748	NM_000578.4(SLC11A1):c.433A>T (p.Ile145Phe)	SLC11A1 (I145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162803	NM_000578.4(SLC11A1):c.445G>A (p.Asp149Asn)	SLC11A1 (D149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370882	NM_000578.4(SLC11A1):c.473T>C (p.Ile158Thr)	SLC11A1 (I158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769587	NM_000578.4(SLC11A1):c.501-4T>G	SLC11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362136	NM_000578.4(SLC11A1):c.505C>A (p.Pro169Thr)	SLC11A1 (P169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783127	NM_000578.4(SLC11A1):c.522C>T (p.Val174=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2225725	NM_000578.4(SLC11A1):c.545T>C (p.Phe182Ser)	SLC11A1 (F182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324431	NM_000578.4(SLC11A1):c.558C>G (p.Phe186Leu)	SLC11A1 (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713784	NM_000578.4(SLC11A1):c.571+8C>T	SLC11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3318799	NM_000578.4(SLC11A1):c.586G>C (p.Glu196Gln)	SLC11A1 (E196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466961	NM_000578.4(SLC11A1):c.644T>C (p.Val215Ala)	SLC11A1 (V215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530094	NM_000578.4(SLC11A1):c.658G>C (p.Glu220Gln)	SLC11A1 (E220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476397	NM_000578.4(SLC11A1):c.660G>C (p.Glu220Asp)	SLC11A1 (E220D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507547	NM_000578.4(SLC11A1):c.731C>T (p.Ala244Val)	SLC11A1 (A244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055354	NM_000578.4(SLC11A1):c.747C>T (p.Gly249=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related disorder	GBenign
Select item 3040629	NM_000578.4(SLC11A1):c.796-5C>T	SLC11A1	Single nucleotide variant (intron variant)	SLC11A1-related disorder	GLikely benign
Select item 3035428	NM_000578.4(SLC11A1):c.796-4G>A	SLC11A1	Single nucleotide variant (intron variant)	SLC11A1-related disorder	GLikely benign
Select item 638469	NM_000578.4(SLC11A1):c.806T>C (p.Ile269Thr)	SLC11A1 (I269T)	Single nucleotide variant (missense variant)	Mycobacterium tuberculosis, susceptibility to	GUncertain significance
Select item 1049687	NM_000578.4(SLC11A1):c.811C>T (p.Arg271Trp)	SLC11A1 (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382782	NM_000578.4(SLC11A1):c.812G>A (p.Arg271Gln)	SLC11A1 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356907	NM_000578.4(SLC11A1):c.821G>A (p.Arg274Gln)	SLC11A1 (R274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273469	NM_000578.4(SLC11A1):c.824C>G (p.Ala275Gly)	SLC11A1 (A275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281346	NM_000578.4(SLC11A1):c.862G>A (p.Ala288Thr)	SLC11A1 (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040630	NM_000578.4(SLC11A1):c.870C>T (p.Ile290=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related disorder	GLikely benign
Select item 3033569	NM_000578.4(SLC11A1):c.875T>C (p.Leu292Pro)	SLC11A1 (L292P)	Single nucleotide variant (missense variant)	SLC11A1-related disorder	GLikely benign
Select item 2594861	NM_000578.4(SLC11A1):c.878C>T (p.Ser293Phe)	SLC11A1 (S293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368525	NM_000578.4(SLC11A1):c.908T>C (p.Met303Thr)	SLC11A1 (M303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048994	NM_000578.4(SLC11A1):c.943A>C (p.Asn315His)	SLC11A1 (N315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162805	NM_000578.4(SLC11A1):c.972C>G (p.Asn324Lys)	SLC11A1 (N324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389641	NM_000578.4(SLC11A1):c.984C>A (p.His328Gln)	SLC11A1 (H328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736747	NM_000578.4(SLC11A1):c.1045-7C>T	SLC11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724986	NM_000578.4(SLC11A1):c.1048G>A (p.Val350Met)	SLC11A1 (V350M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240848	NM_000578.4(SLC11A1):c.1052T>C (p.Ile351Thr)	SLC11A1 (I351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234818	NM_000578.4(SLC11A1):c.1075G>A (p.Ala359Thr)	SLC11A1 (A359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228608	NM_000578.4(SLC11A1):c.1114G>A (p.Gly372Arg)	SLC11A1 (G372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318798	NM_000578.4(SLC11A1):c.1139C>T (p.Thr380Ile)	SLC11A1 (T380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045914	NM_000578.4(SLC11A1):c.1143C>T (p.Tyr381=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related disorder	GLikely benign
Select item 2568581	NM_000578.4(SLC11A1):c.1155C>G (p.Phe385Leu)	SLC11A1 (F385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716740	NM_000578.4(SLC11A1):c.1165-7A>C	SLC11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3162796	NM_000578.4(SLC11A1):c.1190G>A (p.Arg397His)	SLC11A1 (R397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247717	NM_000578.4(SLC11A1):c.1194C>G (p.Phe398Leu)	SLC11A1 (F398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324793	NM_000578.4(SLC11A1):c.1199G>A (p.Arg400His)	SLC11A1 (R400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615491	NM_000578.4(SLC11A1):c.1214G>T (p.Arg405Leu)	SLC11A1 (R405L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736428	NM_000578.4(SLC11A1):c.1255C>A (p.Arg419=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035789	NM_000578.4(SLC11A1):c.1256G>A (p.Arg419Gln)	SLC11A1 (R419Q)	Single nucleotide variant (missense variant)	SLC11A1-related disorder	GBenign
Select item 2492864	NM_000578.4(SLC11A1):c.1265G>A (p.Arg422Lys)	SLC11A1 (R422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318800	NM_000578.4(SLC11A1):c.1267G>A (p.Asp423Asn)	SLC11A1 (D423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479445	NM_000578.4(SLC11A1):c.1283A>G (p.Asn428Ser)	SLC11A1 (N428S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162797	NM_000578.4(SLC11A1):c.1319C>T (p.Pro440Leu)	SLC11A1 (P440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488783	NM_000578.4(SLC11A1):c.1325C>T (p.Ala442Val)	SLC11A1 (A442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359274	NM_000578.4(SLC11A1):c.1327G>A (p.Val443Met)	SLC11A1 (V443M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787164	NM_000578.4(SLC11A1):c.1328T>C (p.Val443Ala)	SLC11A1 (V443A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410879	NM_000578.4(SLC11A1):c.1382A>G (p.Asn461Ser)	SLC11A1 (N461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531779	NM_000578.4(SLC11A1):c.1432G>A (p.Ala478Thr)	SLC11A1 (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239132	NM_000578.4(SLC11A1):c.1450G>C (p.Val484Leu)	SLC11A1 (V484L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2554216	NM_000578.4(SLC11A1):c.1487A>G (p.Tyr496Cys)	SLC11A1 (Y496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731804	NM_000578.4(SLC11A1):c.1492G>A (p.Gly498Ser)	SLC11A1 (G498S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2327874	NM_000578.4(SLC11A1):c.1499C>T (p.Ala500Val)	SLC11A1 (A500V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409712	NM_000578.4(SLC11A1):c.1567G>A (p.Gly523Arg)	SLC11A1 (G523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 9233	NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn)	SLC11A1 (D543N)	Single nucleotide variant (missense variant)	Buruli ulcer, susceptibility to	Grisk factor
Select item 2604627	NM_000578.4(SLC11A1):c.1645T>C (p.Ser549Pro)	SLC11A1 (S549P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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