Related gene-specific medical variations for Gene (Select 80746) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690283	NM_025265.4(TSEN2):c.703CAT[1] (p.His236del)	TSEN2 (H177del +1 more)	Microsatellite (inframe_deletion +1 more)	Pontocerebellar hypoplasia type 2B	GUncertain significance
Select item 2653539	NM_025265.4(TSEN2):c.-98_-96del	LOC129936171, TSEN2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2573068	NM_025265.4(TSEN2):c.1355G>T (p.Arg452Leu)	TSEN2 (R393L +2 more)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 2B	GUncertain significance
Select item 2573067	NM_025265.4(TSEN2):c.1087G>A (p.Gly363Arg)	TSEN2 (G304R +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GUncertain significance
Select item 2437385	NM_025265.4(TSEN2):c.1016T>G (p.Phe339Cys)	TSEN2 (F280C +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GUncertain significance
Select item 1334772	NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)	TSEN2 (E243K +1 more)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic
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 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 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 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 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 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 686389	GRCh37/hg19 3p25.2(chr3:12505959-12562729)x3	TSEN2	Copy number gain	not provided	GUncertain significance
Select item 686258	GRCh37/hg19 3p25.2(chr3:12518283-12562880)x3	TSEN2	Copy number gain	not provided	GUncertain significance
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 343065	NM_025265.4(TSEN2):c.-130T>C	LOC129936171, TSEN2	Single nucleotide variant (intron variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
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 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 343062	NM_025265.4(TSEN2):c.-199G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GBenign
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 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 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 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 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 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 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 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 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 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 261878	NM_025265.4(TSEN2):c.831+40C>T	TSEN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261877	NM_025265.4(TSEN2):c.271+39del	TSEN2	Deletion (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 31