ClinVar for MedGen (Select 39081) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068017	NM_001374504.1(TMPRSS6):c.1396G>A (p.Asp466Asn)	TMPRSS6 (D466N)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 2892219	NM_001374504.1(TMPRSS6):c.262C>T (p.Arg88Cys)	TMPRSS6 (R88C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579193	GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1	IL2RB, LOC130067341 +1 more	Copy number loss	Iron-refractory iron deficiency anemia	GPathogenic
Select item 2500890	NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)	TMPRSS6 (M615fs)	Insertion (frameshift variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 2500843	NM_001374504.1(TMPRSS6):c.836+1G>A	TMPRSS6	Single nucleotide variant (splice donor variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 2437123	NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)	TMPRSS6 (A22V)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 2437122	NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)	TMPRSS6 (A710T +1 more)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 2412690	NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)	TMPRSS6 (S352*)	Single nucleotide variant (nonsense)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1342231	NM_001374504.1(TMPRSS6):c.631+46A>G	TMPRSS6	Single nucleotide variant (intron variant)	Iron-refractory iron deficiency anemia	GBenign
Select item 1301819	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2]	TMPRSS6	Microsatellite (splice acceptor variant)	not provided	GUncertain significance
Select item 1299579	NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr)	TMPRSS6 (C516Y)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GLikely pathogenic
Select item 1279018	NM_001374504.1(TMPRSS6):c.1441+46C>T	TMPRSS6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222529	NM_001374504.1(TMPRSS6):c.836+23A>G	TMPRSS6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1049820	NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys)	TMPRSS6 (R153C)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 899544	NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu)	TMPRSS6 (S177L)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GUncertain significance
Select item 734033	NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser)	TMPRSS6 (G282S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341601	NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys)	TMPRSS6 (E151K)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GUncertain significance
Select item 262729	NM_001374504.1(TMPRSS6):c.72G>A (p.Pro24=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262728	NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu)	TMPRSS6 (K253E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 262726	NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262725	NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala)	TMPRSS6 (V736A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 262722	NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262720	NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 30802	NM_001374504.1(TMPRSS6):c.1537G>A (p.Glu513Lys)	TMPRSS6 (E513K)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1410	NM_001374504.1(TMPRSS6):c.326C>A (p.Ala109Asp)	TMPRSS6 (A109D)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1409	NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs)	TMPRSS6 (V678fs +1 more)	Duplication (frameshift variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1408	NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)	TMPRSS6 (R590*)	Single nucleotide variant (nonsense)	Iron-refractory iron deficiency anemia +1 more	GPathogenic/Likely pathogenic
Select item 1407	NM_001374504.1(TMPRSS6):c.1152T>G (p.Tyr384Ter)	TMPRSS6 (Y384*)	Single nucleotide variant (nonsense)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1406	NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)	TMPRSS6 (E461fs +1 more)	Deletion (frameshift variant)	Iron-refractory iron deficiency anemia	GLikely pathogenic
Select item 1405	NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)	TMPRSS6 (Y346*)	Single nucleotide variant (nonsense)	TMPRSS6-related condition +2 more	GLikely pathogenic
Select item 1404	NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)	TMPRSS6 (D512N)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GLikely pathogenic
Select item 1403	NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg)	TMPRSS6 (G433R)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GPathogenic/Likely pathogenic
Select item 1402	NM_001374504.1(TMPRSS6):c.2113+1G>C	TMPRSS6	Single nucleotide variant (splice donor variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1401	NM_001374504.1(TMPRSS6):c.1555+1G>A	TMPRSS6	Single nucleotide variant (splice donor variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1400	NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs)	TMPRSS6 (A605fs +1 more)	Deletion (frameshift variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1399	NM_001374504.1(TMPRSS6):c.1877_1878dup (p.Lys627fs)	TMPRSS6 (K636fs +1 more)	Duplication (frameshift variant)	Iron-refractory iron deficiency anemia	GPathogenic

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Items: 36