"Illumina Laboratory Services, Illumina"[submitter] AND "SLC11A2"[gene - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 309310	NM_000617.3(SLC11A2):c.1348-10T>C	SLC11A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 881695	NM_000617.3(SLC11A2):c.1303C>A (p.Leu435Ile)	SLC11A2 (L431I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 condition +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 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 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 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)	not provided +2 more	GBenign/Likely benign
Select item 882846	NM_000617.3(SLC11A2):c.832-3T>C	SLC11A2	Single nucleotide variant (intron variant)	not provided +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 condition +1 more	GConflicting classifications of pathogenicity
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
Select item 309317	NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr)	SLC11A2 (A209T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 309318	NM_000617.3(SLC11A2):c.607+12G>A	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload +1 more	GBenign
Select item 883637	NM_000617.3(SLC11A2):c.523C>T (p.Leu175=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309319	NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val)	SLC11A2 (I201V +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309320	NM_000617.3(SLC11A2):c.504A>G (p.Ser168=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309321	NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly)	SLC11A2 (R146G +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 883638	NM_000617.3(SLC11A2):c.290G>C (p.Gly97Ala)	SLC11A2 (G93A +4 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 883639	NM_000617.3(SLC11A2):c.255G>T (p.Leu85=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	Microcytic anemia with liver iron overload	GBenign
Select item 309322	NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn)	SLC11A2 (S95N +3 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload +2 more	GConflicting classifications of pathogenicity
Select item 881286	NM_000617.3(SLC11A2):c.184T>C (p.Tyr62His)	SLC11A2 (Y62H +3 more)	Single nucleotide variant (missense variant +1 more)	Microcytic anemia with liver iron overload +1 more	GBenign
Select item 309323	NM_000617.3(SLC11A2):c.34+11G>A	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload +1 more	GBenign
Select item 881287	NM_000617.3(SLC11A2):c.34+6T>G	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload +1 more	GBenign
Select item 881288	NM_000617.3(SLC11A2):c.15T>C (p.Pro5=)	SLC11A2	Single nucleotide variant (synonymous variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309324	NM_000617.3(SLC11A2):c.-38-3C>T	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881289	NM_000617.3(SLC11A2):c.-39+12G>A	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 881290	NM_000617.3(SLC11A2):c.-39+5G>C	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GBenign
Select item 309325	NM_000617.3(SLC11A2):c.-39G>A	SLC11A2	Single nucleotide variant (5 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309326	NM_000617.3(SLC11A2):c.-50G>A	SLC11A2	Single nucleotide variant (5 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309327	NM_000617.3(SLC11A2):c.-78G>A	SLC11A2	Single nucleotide variant (5 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 881740	NM_000617.3(SLC11A2):c.-96C>T	SLC11A2	Single nucleotide variant (5 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 309328	NM_000617.3(SLC11A2):c.-110G>T	SLC11A2	Single nucleotide variant (5 prime UTR variant +2 more)	Microcytic anemia with liver iron overload	GBenign
Select item 881741	NM_001174125.2(SLC11A2):c.49+1791C>T	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 369018	NM_001174125.2(SLC11A2):c.49+1757C>T	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance
Select item 369019	NM_001174125.2(SLC11A2):c.49+1746C>T	SLC11A2	Single nucleotide variant (intron variant)	Microcytic anemia with liver iron overload	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 87