C0030567[trait identifier] AND "Lupski Lab, Baylor-Hopkins CMG, Baylor - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224861	NM_003285.3(TNR):c.1774A>G (p.Thr592Ala)	TNR (T592A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 224862	NM_003285.3(TNR):c.1732C>T (p.Arg578Ter)	TNR (R578* +1 more)	Single nucleotide variant (nonsense)	Parkinson disease	GUncertain significance
Select item 224863	NM_003285.3(TNR):c.538A>C (p.Asn180His)	TNR (N180H)	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease +1 more	GConflicting classifications of pathogenicity
Select item 224864	NM_003285.3(TNR):c.496A>G (p.Thr166Ala)	TNR (T166A)	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease +2 more	GConflicting classifications of pathogenicity
Select item 224865	NM_003285.3(TNR):c.463T>A (p.Cys155Ser)	TNR (C155S)	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease	GUncertain significance
Select item 224858	NM_001382273.1(TNK2):c.2981C>T (p.Ala994Val)	TNK2 (A977V +6 more)	Single nucleotide variant (missense variant +2 more)	Parkinson disease	GUncertain significance
Select item 224859	NM_001382273.1(TNK2):c.2675G>A (p.Arg892His)	TNK2 (R877H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 88849	NM_001382273.1(TNK2):c.1957G>A (p.Val653Met)	TNK2 (V638M +5 more)	Single nucleotide variant (missense variant +1 more)	Infantile epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 224860	NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)	TNK2 (V363A +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease	GUncertain significance