C3280220[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 849983	NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)	DYNC1H1 (K228N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 408977	NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp)	DYNC1H1 (E1617D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 472541	NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)	DYNC1H1 (V1750M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 472542	NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)	DYNC1H1 (A1765T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GConflicting classifications of pathogenicity
Select item 574494	NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)	DYNC1H1 (R2398H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 210882	NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)	DYNC1H1 (E2640K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GConflicting classifications of pathogenicity
Select item 2683280	NM_001376.5(DYNC1H1):c.8851G>A (p.Ala2951Thr)	DYNC1H1 (A2951T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 573501	NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)	DYNC1H1 (D3439N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance