"Ambry Genetics"[submitter] AND "TWNK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185085	NM_021830.5(TWNK):c.50T>C (p.Leu17Pro)	TWNK (L17P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1285140	NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)	TWNK (A57T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1302616	NM_021830.5(TWNK):c.284G>C (p.Gly95Ala)	TWNK (G95A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2672411	NM_021830.5(TWNK):c.700G>A (p.Glu234Lys)	TWNK (E234K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 298500	NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)	TWNK (G348R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 2865229	NM_021830.5(TWNK):c.1735-3del	TWNK	Deletion (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 279716	NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	TWNK (K684Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +7 more	GConflicting classifications of pathogenicity

ClinVar