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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1417289	NM_013352.4(DSE):c.17G>A (p.Arg6Gln)	DSE (R6Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 624264	NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)	DSE (F12Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1310544	NM_013352.4(DSE):c.95T>C (p.Met32Thr)	DSE (M32T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1420411	NM_013352.4(DSE):c.208C>T (p.Arg70Cys)	DSE (R70C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2168054	NM_013352.4(DSE):c.826G>A (p.Val276Ile)	DSE (V295I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1491434	NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)	DSE (I192F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2682950	NM_013352.4(DSE):c.2192T>C (p.Ile731Thr)	DSE (I386T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1496448	NM_013352.4(DSE):c.2429G>A (p.Arg810Gln)	DSE (R477Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3379707	NM_013352.4(DSE):c.2620G>A (p.Gly874Ser)	DSE (G529S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance