ClinVar for MedGen (Select 863744) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683933	NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)	TWNK (S199F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Perrault syndrome 5 +3 more	GUncertain significance
Select item 1496673	NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)	TWNK (D397G)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 5 +4 more	GUncertain significance
Select item 878940	NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)	TWNK (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 878124	NM_021830.5(TWNK):c.-592C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GUncertain significance
Select item 694394	NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)	TWNK (R265C)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 488187	NM_021830.5(TWNK):c.874C>A (p.Pro292Thr)	TWNK (P292T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214178	NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	TWNK (A659T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 214174	NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)	TWNK (N246S)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 162051	NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)	TWNK (V507I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 162050	NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly)	TWNK (W441G)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 162049	NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser)	TWNK (N585S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GPathogenic
Select item 162048	NM_021830.5(TWNK):c.1172G>A (p.Arg391His)	TWNK (R391H)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 4619	NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	TWNK (W474* +1 more)	Single nucleotide variant (nonsense +1 more)	Infantile onset spinocerebellar ataxia +3 more	GLikely pathogenic