ClinVar for MedGen (Select 393505) - ClinVar

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Items: 27

	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 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 2444490	NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)	TSEN2 (A8D)	Single nucleotide variant (missense variant +1 more)	not provided	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 1334773	NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)	TSEN2 (R393* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1031439	NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)	TSEN2 (Y257fs +1 more)	Indel (frameshift variant +1 more)	Pontocerebellar hypoplasia type 2B	GPathogenic
Select item 632396	NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)	TSEN2 (R291* +2 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 2B +1 more	GConflicting classifications of pathogenicity
Select item 495253	NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)	TSEN2 (Q118fs)	Deletion (frameshift variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GLikely pathogenic
Select item 495252	NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)	TSEN2 (Y287C +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic
Select item 393227	NM_025265.4(TSEN2):c.971C>T (p.Thr324Met)	TSEN2 (T324M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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)	Pontocerebellar hypoplasia type 2B +2 more	GUncertain significance
Select item 212444	NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)	TSEN2 (N144S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 212443	NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)	TSEN2 (N48del)	Microsatellite (inframe_deletion +1 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic
Select item 212442	NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)	TSEN2 (Q387R +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic
Select item 180671	NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)	TSEN2 (Q231*)	Single nucleotide variant (nonsense +2 more)	Pontocerebellar hypoplasia type 2B	GPathogenic
Select item 180670	NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg)	TSEN2 (G312R +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GPathogenic
Select item 180669	NM_025265.4(TSEN2):c.960+1_960+5del	TSEN2	Deletion (splice donor variant)	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 160115	NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)	TSEN2 (P218L)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 2B	GUncertain significance
Select item 160114	NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile)	TSEN2 (T203I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 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 160108	NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)	TSEN2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 160105	NM_025265.4(TSEN2):c.1272T>C (p.Ile424=)	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)	Pontocerebellar hypoplasia type 2B +2 more	GConflicting classifications of pathogenicity
Select item 2125	NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	TSEN2 (Y309C +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B +2 more	GConflicting classifications of pathogenicity

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Items: 27