"Illumina Laboratory Services, Illumina"[submitter] AND "TSEN2"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369384	NM_025265.4(TSEN2):c.-391G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 343052	NM_025265.4(TSEN2):c.-382A>C	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343053	NM_025265.4(TSEN2):c.-374G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343054	NM_025265.4(TSEN2):c.-373C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343055	NM_025265.4(TSEN2):c.-355C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 901983	NM_025265.4(TSEN2):c.-353G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 901984	NM_025265.4(TSEN2):c.-297C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 901985	NM_025265.4(TSEN2):c.-293A>G	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 901986	NM_025265.4(TSEN2):c.-224G>C	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343056	NM_025265.4(TSEN2):c.-222G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343057	NM_025265.4(TSEN2):c.-220G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 343058	NM_025265.4(TSEN2):c.-219C>G	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343059	NM_025265.4(TSEN2):c.-209G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 343060	NM_025265.4(TSEN2):c.-201C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343061	NM_025265.4(TSEN2):c.-200C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343062	NM_025265.4(TSEN2):c.-199G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GBenign
Select item 343063	NM_025265.4(TSEN2):c.-173C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343064	NM_025265.4(TSEN2):c.-160C>G	LOC129936171, TSEN2	Single nucleotide variant (intron variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343065	NM_025265.4(TSEN2):c.-130T>C	LOC129936171, TSEN2	Single nucleotide variant (intron variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 902883	NM_025265.4(TSEN2):c.-105A>G	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 902884	NM_025265.4(TSEN2):c.-91A>C	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343066	NM_025265.4(TSEN2):c.-20G>A	TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 343067	NM_025265.4(TSEN2):c.-18+10G>A	TSEN2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 900330	NM_025265.4(TSEN2):c.-13C>T	TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343068	NM_025265.4(TSEN2):c.105A>G (p.Lys35=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160102	NM_025265.4(TSEN2):c.108A>G (p.Glu36=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 343069	NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys)	TSEN2 (F40C)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 137752	NM_025265.4(TSEN2):c.122G>A (p.Arg41His)	TSEN2 (R41H)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 137753	NM_025265.4(TSEN2):c.162G>A (p.Ala54=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 160110	NM_025265.4(TSEN2):c.272-4C>G	TSEN2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 167750	NM_025265.4(TSEN2):c.309G>A (p.Arg103=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160111	NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)	TSEN2 (V108F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 137749	NM_025265.4(TSEN2):c.327G>A (p.Glu109=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 96175	NM_025265.4(TSEN2):c.377G>A (p.Arg126His)	TSEN2 (R126H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 160112	NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)	TSEN2 (K130T)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +3 more	GBenign/Likely benign
Select item 736209	NM_025265.4(TSEN2):c.405G>A (p.Pro135=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 901486	NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile)	TSEN2 (T164I)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 514490	NM_025265.4(TSEN2):c.522C>T (p.Asn174=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	Pontoneocerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 160113	NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)	TSEN2 (R187P)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 343070	NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser)	TSEN2 (T202S)	Single nucleotide variant (missense variant +2 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343071	NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala)	TSEN2 (E212A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 137750	NM_025265.4(TSEN2):c.639T>C (p.Asp213=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 343072	NM_025265.4(TSEN2):c.657T>C (p.His219=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343073	NM_025265.4(TSEN2):c.680C>T (p.Ala227Val)	TSEN2 (A227V)	Single nucleotide variant (missense variant +2 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 902059	NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe)	TSEN2 (L175F +1 more)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 343074	NM_025265.4(TSEN2):c.704A>G (p.His235Arg)	TSEN2 (H235R +1 more)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343075	NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn)	TSEN2 (D191N +1 more)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 343076	NM_025265.4(TSEN2):c.768G>A (p.Glu256=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343077	NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)	TSEN2 (N282S +1 more)	Single nucleotide variant (missense variant +2 more)	Pontoneocerebellar hypoplasia +2 more	GUncertain significance
Select item 198268	NM_025265.4(TSEN2):c.870A>G (p.Pro290=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 212445	NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys)	TSEN2 (Y232C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 343078	NM_025265.4(TSEN2):c.961-14G>A	TSEN2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 137751	NM_025265.4(TSEN2):c.963G>A (p.Glu321=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 343079	NM_025265.4(TSEN2):c.990A>G (p.Lys330=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160101	NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)	TSEN2 (T279R +2 more)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 343080	NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 632396	NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)	TSEN2 (R291* +2 more)	Single nucleotide variant (nonsense +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343081	NM_025265.4(TSEN2):c.1104A>G (p.Leu368=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 900388	NM_025265.4(TSEN2):c.1233C>T (p.Ser411=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343082	NM_025265.4(TSEN2):c.1248+15G>C	TSEN2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900389	NM_025265.4(TSEN2):c.1249-12A>G	TSEN2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 900390	NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu)	TSEN2 (M360L +2 more)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 160106	NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 160107	NM_025265.4(TSEN2):c.1350G>A (p.Leu450=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 160108	NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	Pontoneocerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 900449	NM_025265.4(TSEN2):c.*19C>T	TSEN2	Single nucleotide variant (3 prime UTR variant +2 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343083	NM_025265.4(TSEN2):c.*56A>T	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343084	NM_025265.4(TSEN2):c.*78G>A	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GBenign
Select item 900450	NM_025265.4(TSEN2):c.*95T>C	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 900451	NM_025265.4(TSEN2):c.*106A>G	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 900452	NM_025265.4(TSEN2):c.*198A>G	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343085	NM_025265.4(TSEN2):c.*211C>T	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343086	NM_025265.4(TSEN2):c.*292G>T	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 343087	NM_025265.4(TSEN2):c.*419A>G	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 902115	NM_025265.4(TSEN2):c.*430G>A	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343088	NM_025265.4(TSEN2):c.*448C>G	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343089	NM_025265.4(TSEN2):c.*458C>T	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343090	NM_025265.4(TSEN2):c.*475C>T	TSEN2	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance

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Items: 78