"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "TMPRSS6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262727	NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)	TMPRSS6 (V795I +2 more)	Single nucleotide variant (missense variant)	Microcytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 341580	NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu)	TMPRSS6 (R702L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380715	NM_001374504.1(TMPRSS6):c.1802G>A (p.Arg601His)	TMPRSS6 (R601H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408	NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)	TMPRSS6 (R590*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3380716	NM_001374504.1(TMPRSS6):c.1699C>T (p.Arg567Cys)	TMPRSS6 (R567C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380919	NM_001374504.1(TMPRSS6):c.1655C>A (p.Ser552Ter)	TMPRSS6 (S552*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3380717	NM_001374504.1(TMPRSS6):c.1197-7C>A	TMPRSS6	Single nucleotide variant (intron variant)	not provided	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 2683571	NM_001374504.1(TMPRSS6):c.460C>T (p.Arg154Trp)	TMPRSS6 (R154W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049820	NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys)	TMPRSS6 (R153C)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GUncertain significance
Select item 1049250	NM_001374504.1(TMPRSS6):c.362G>A (p.Arg121His)	TMPRSS6 (R121H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2045663	NM_001374504.1(TMPRSS6):c.359C>T (p.Thr120Ile)	TMPRSS6 (T120I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 900683	NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val)	TMPRSS6 (A71V)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity