SLC11A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152631	GRCh38/hg38 12q13.12(chr12:50600204-50953386)x3	ATF1, DIP2B +14 more	Copy number gain	See cases	GUncertain significance
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2463943	NM_001109619.4(HIGD1C):c.53G>A (p.Arg18Gln)	HIGD1C, SLC11A2 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462836	NM_001109619.4(HIGD1C):c.91A>G (p.Ile31Val)	HIGD1C, SLC11A2 (I31V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105848	NM_001109619.4(HIGD1C):c.104G>A (p.Gly35Asp)	HIGD1C, SLC11A2 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510306	NM_001109619.4(HIGD1C):c.118G>C (p.Val40Leu)	HIGD1C, SLC11A2 (V40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238352	NM_001109619.4(HIGD1C):c.149G>A (p.Arg50Lys)	HIGD1C, SLC11A2 (R50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211228	NM_001109619.4(HIGD1C):c.191T>C (p.Val64Ala)	HIGD1C, SLC11A2 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528054	NM_001109619.4(HIGD1C):c.232G>A (p.Val78Ile)	HIGD1C, SLC11A2 (V78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881136	NM_000617.3(SLC11A2):c.*2332A>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309276	NM_000617.3(SLC11A2):c.*2320del	SLC11A2	Deletion (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309277	NM_000617.3(SLC11A2):c.*2289G>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309278	NM_000617.3(SLC11A2):c.2083_2084del	SLC11A2	Deletion (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309279	NM_000617.3(SLC11A2):c.*1949A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309280	NM_000617.3(SLC11A2):c.*1902C>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309281	NM_000617.3(SLC11A2):c.*1876T>C	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 882758	NM_000617.3(SLC11A2):c.*1795G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309282	NM_000617.3(SLC11A2):c.*1752dup	SLC11A2	Duplication (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 882759	NM_000617.3(SLC11A2):c.*1739C>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 882760	NM_000617.3(SLC11A2):c.*1615T>C	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309283	NM_000617.3(SLC11A2):c.*1599C>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309284	NM_000617.3(SLC11A2):c.*1559G>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309285	NM_000617.3(SLC11A2):c.*1486G>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 309286	NM_000617.3(SLC11A2):c.*1466dup	SLC11A2	Duplication (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881180	NM_000617.3(SLC11A2):c.*1444C>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881181	NM_000617.3(SLC11A2):c.*1367T>C	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881182	NM_000617.3(SLC11A2):c.*1360A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309287	NM_000617.3(SLC11A2):c.*1273G>A	SLC11A2	Single nucleotide variant (intron variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 309288	NM_000617.3(SLC11A2):c.*1261G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 309289	NM_000617.3(SLC11A2):c.*1215A>C	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 881183	NM_000617.3(SLC11A2):c.*1058G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881184	NM_000617.3(SLC11A2):c.*1057C>T	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309290	NM_000617.3(SLC11A2):c.*1031G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 309291	NM_000617.3(SLC11A2):c.*1007A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309292	NM_000617.3(SLC11A2):c.*986C>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309293	NM_000617.3(SLC11A2):c.*985G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309294	NM_000617.3(SLC11A2):c.*970A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309295	NM_000617.3(SLC11A2):c.*872A>C	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 882809	NM_000617.3(SLC11A2):c.*789G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 882810	NM_000617.3(SLC11A2):c.*716G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309296	NM_000617.3(SLC11A2):c.*546G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GLikely benign
Select item 309297	NM_000617.3(SLC11A2):c.*420G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309298	NM_000617.3(SLC11A2):c.*415G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309299	NM_000617.3(SLC11A2):c.*390G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 309300	NM_000617.3(SLC11A2):c.*358A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 883596	NM_000617.3(SLC11A2):c.*295G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309301	NM_000617.3(SLC11A2):c.*153A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GLikely benign
Select item 309302	NM_000617.3(SLC11A2):c.*32A>G	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309303	NM_000617.3(SLC11A2):c.*11G>A	SLC11A2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 3162808	NM_000617.3(SLC11A2):c.1678G>A (p.Val560Ile)	SLC11A2 (V523I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2069016	NM_000617.3(SLC11A2):c.1670G>A (p.Arg557His)	SLC11A2 (R553H +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 309304	NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr)	SLC11A2 (A584T +4 more)	Single nucleotide variant (missense variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 2487773	NM_000617.3(SLC11A2):c.1661A>C (p.Glu554Ala)	SLC11A2 (E583A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 881232	NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile)	SLC11A2 (T552I +4 more)	Single nucleotide variant (missense variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 2257614	NM_000617.3(SLC11A2):c.1642A>G (p.Lys548Glu)	SLC11A2 (K511E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2176495	NM_000617.3(SLC11A2):c.1628C>A (p.Thr543Lys)	SLC11A2 (T539K +4 more)	Single nucleotide variant (missense variant +1 more)	SLC11A2-related disorder +1 more	GUncertain significance
Select item 2303136	NM_000617.3(SLC11A2):c.1607C>T (p.Ser536Phe)	SLC11A2 (S457F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 309305	NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309306	NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881233	NM_000617.3(SLC11A2):c.1576-7C>G	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 1907797	NM_000617.3(SLC11A2):c.1576-12T>C	SLC11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 309307	NM_000617.3(SLC11A2):c.1576-14A>G	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload +1 more	GBenign
Select item 2549010	NM_000617.3(SLC11A2):c.1549G>A (p.Ala517Thr)	SLC11A2 (A480T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 881234	NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg)	SLC11A2 (H500R +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 2047551	NM_000617.3(SLC11A2):c.1498C>T (p.Arg500Trp)	SLC11A2 (R421W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2917010	NM_000617.3(SLC11A2):c.1497C>A (p.Val499=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 309308	NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445717	NM_000617.3(SLC11A2):c.1422-18T>A	SLC11A2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 309309	NM_000617.3(SLC11A2):c.1421+8T>A	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 2392872	NM_000617.3(SLC11A2):c.1391G>A (p.Arg464Gln)	SLC11A2 (R427Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642995	NM_000617.3(SLC11A2):c.1383G>A (p.Thr461=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 309310	NM_000617.3(SLC11A2):c.1348-10T>C	SLC11A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3239183	NM_000617.3(SLC11A2):c.1333C>T (p.Leu445=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3162807	NM_000617.3(SLC11A2):c.1330G>A (p.Val444Ile)	SLC11A2 (V407I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 881695	NM_000617.3(SLC11A2):c.1303C>A (p.Leu435Ile)	SLC11A2 (L431I +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload +1 more	GLikely benign
Select item 309311	NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val)	SLC11A2 (I420V +4 more)	Single nucleotide variant (missense variant +1 more)	SLC11A2-related disorder +1 more	GUncertain significance
Select item 309312	NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload +1 more	GBenign
Select item 9076	NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys)	SLC11A2 (R416C +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GPathogenic
Select item 309313	NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 9074	NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp)	SLC11A2 (E399D +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 2297722	NM_000617.3(SLC11A2):c.1195G>A (p.Glu399Lys)	SLC11A2 (E320K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162806	NM_000617.3(SLC11A2):c.1112C>T (p.Ala371Val)	SLC11A2 (A292V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 881696	NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu)	SLC11A2 (S346L +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 760771	NM_000617.3(SLC11A2):c.1032C>G (p.Leu344=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2525512	NM_000617.3(SLC11A2):c.1030C>T (p.Leu344Phe)	SLC11A2 (L265F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392987	NM_000617.3(SLC11A2):c.1010C>G (p.Thr337Ser)	SLC11A2 (T366S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2077939	NM_000617.3(SLC11A2):c.990+3G>A	SLC11A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 309314	NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser)	SLC11A2 (N311S +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309315	NM_000617.3(SLC11A2):c.921C>T (p.Ser307=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 882845	NM_000617.3(SLC11A2):c.893T>C (p.Ile298Thr)	SLC11A2 (I294T +4 more)	Single nucleotide variant (missense variant +1 more)	SLC11A2-related disorder +2 more	GBenign/Likely benign
Select item 882846	NM_000617.3(SLC11A2):c.832-3T>C	SLC11A2	Single nucleotide variant (intron variant)	SLC11A2-related disorder +2 more	GBenign/Likely benign
Select item 882847	NM_000617.3(SLC11A2):c.828C>G (p.Val276=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	SLC11A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2235894	NM_000617.3(SLC11A2):c.778G>A (p.Val260Met)	SLC11A2 (V181M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727478	NM_000617.3(SLC11A2):c.747C>T (p.Arg249=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2206984	NM_000617.3(SLC11A2):c.718A>G (p.Met240Val)	SLC11A2 (M236V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 638450	NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser)	SLC11A2 (G235S +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 2446381	NM_000617.3(SLC11A2):c.675+35A>G	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GPathogenic
Select item 309316	NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile)	SLC11A2 (T216I +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance

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