"PreventionGenetics, part of Exact Sciences"[submitter] AND "TWNK"[gen - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047162	NM_021830.5(TWNK):c.33C>A (p.Leu11=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	TWNK-related disorder	GLikely benign
Select item 719153	NM_021830.5(TWNK):c.75G>A (p.Arg25=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3030658	NM_021830.5(TWNK):c.104C>T (p.Pro35Leu)	TWNK (P35L)	Single nucleotide variant (missense variant +2 more)	TWNK-related disorder	GUncertain significance
Select item 1449242	NM_021830.5(TWNK):c.548C>G (p.Thr183Ser)	TWNK (T183S)	Single nucleotide variant (missense variant +2 more)	TWNK-related disorder +1 more	GUncertain significance
Select item 3061013	NM_021830.5(TWNK):c.591T>C (p.Tyr197=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	TWNK-related disorder	GLikely benign
Select item 878844	NM_021830.5(TWNK):c.672T>C (p.Ala224=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	TWNK-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 742104	NM_021830.5(TWNK):c.699C>T (p.Tyr233=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3047784	NM_021830.5(TWNK):c.732C>T (p.Tyr244=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	TWNK-related disorder	GLikely benign
Select item 694394	NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)	TWNK (R265C)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 2192213	NM_021830.5(TWNK):c.828G>A (p.Thr276=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3032352	NM_021830.5(TWNK):c.888T>C (p.Pro296=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	TWNK-related disorder	GLikely benign
Select item 2032922	NM_021830.5(TWNK):c.1080G>C (p.Leu360=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 136588	NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)	TWNK (V368I)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +6 more	GBenign
Select item 56726	NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)	TWNK (L456V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2896035	NM_021830.5(TWNK):c.1387C>G (p.Arg463Gly)	TWNK (R463G +1 more)	Single nucleotide variant (missense variant +1 more)	TWNK-related disorder +1 more	GUncertain significance
Select item 1253582	NM_021830.5(TWNK):c.1485G>A (p.Arg495=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298502	NM_021830.5(TWNK):c.1488T>C (p.Thr496=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 136589	NM_021830.5(TWNK):c.1593-5C>T	TWNK	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 136590	NM_021830.5(TWNK):c.1593-3T>C	TWNK	Single nucleotide variant (intron variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more	GBenign
Select item 383137	NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)	TWNK (Y537H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 214177	NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)	TWNK (K566R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive cerebellar ataxia +6 more	GConflicting classifications of pathogenicity
Select item 380964	NM_021830.5(TWNK):c.1713G>A (p.Ala571=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2984404	NM_021830.5(TWNK):c.1734A>G (p.Lys578=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136591	NM_021830.5(TWNK):c.1734+16C>A	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 136592	NM_021830.5(TWNK):c.1734+17G>A	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	TWNK-related disorder +2 more	GBenign/Likely benign
Select item 136594	NM_021830.5(TWNK):c.1735-14C>A	TWNK	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 1924190	NM_021830.5(TWNK):c.1788C>T (p.Thr596=)	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1907938	NM_021830.5(TWNK):c.1826G>A (p.Arg609His)	TWNK (R609H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +2 more	GUncertain significance
Select item 1638267	NM_021830.5(TWNK):c.1854G>A (p.Pro618=)	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1562075	NM_021830.5(TWNK):c.1980G>A (p.Thr660=)	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	TWNK-related disorder +1 more	GLikely benign
Select item 214180	NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	TWNK (R682H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +6 more	GConflicting classifications of pathogenicity

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Items: 31