"Invitae"[submitter] AND "SLC11A2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2176495	NM_000617.3(SLC11A2):c.1628C>A (p.Thr543Lys)	SLC11A2 (T539K +4 more)	Single nucleotide variant (missense variant +1 more)	SLC11A2-related condition +1 more	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 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 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 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 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 2077939	NM_000617.3(SLC11A2):c.990+3G>A	SLC11A2	Single nucleotide variant (intron variant)	not provided	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 727478	NM_000617.3(SLC11A2):c.747C>T (p.Arg249=)	SLC11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2728131	NM_000617.3(SLC11A2):c.168C>A (p.Ser56=)	SLC11A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2097904	NM_000617.3(SLC11A2):c.156T>C (p.Asn52=)	SLC11A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1408546	NM_000617.3(SLC11A2):c.4G>T (p.Val2Leu)	SLC11A2 (V31L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 776702	NM_001174125.2(SLC11A2):c.49+10C>G	SLC11A2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 27