ClinVar for MedGen (Select 384027) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504077	NM_207346.3(TSEN54):c.1160G>T (p.Arg387Leu)	TSEN54 (R387L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +1 more	GUncertain significance
Select item 2445207	NM_207346.3(TSEN54):c.953del (p.Pro318fs)	TSEN54 (P318fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 1705655	NM_207346.3(TSEN54):c.869_875dup (p.Lys293fs)	TSEN54 (K293fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia type 4	GPathogenic
Select item 1686281	NM_207346.3(TSEN54):c.221+3G>T	TSEN54	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 4	GPathogenic
Select item 1685466	NM_207346.3(TSEN54):c.249G>A (p.Arg83=)	TSEN54	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 4	GLikely pathogenic
Select item 1684518	NM_207346.3(TSEN54):c.503T>G (p.Val168Gly)	TSEN54 (V168G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4	GUncertain significance
Select item 1491165	NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp)	TSEN54 (R396W)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +3 more	GUncertain significance
Select item 1385645	NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys)	TSEN54 (R316C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1219861	NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln)	TSEN54 (R379Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1210718	NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)	TSEN54 (R438Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 620188	NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)	TSEN54 (K347*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 586846	NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)	TSEN54 (K347Y)	Indel (missense variant)	not provided +3 more	GUncertain significance
Select item 561138	NM_207346.3(TSEN54):c.940del (p.Leu314fs)	TSEN54 (L314fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 4 +2 more	GPathogenic
Select item 495240	NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)	TSEN54 (G124V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 265282	NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)	TSEN54 (K224fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 4 +3 more	GPathogenic
Select item 212455	NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)	TSEN54 (S28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 198637	NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)	TSEN54 (R208W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 160134	NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)	TSEN54 (I137L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 5 +5 more	GBenign
Select item 160133	NM_207346.3(TSEN54):c.285+32C>A	TSEN54	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 4 +4 more	GBenign
Select item 160127	NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)	TSEN54 (A437V)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 160123	NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)	TSEN54 (K347N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +5 more	GBenign
Select item 137759	NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)	TSEN54 (P483A)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 96674	NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])	LOC112533671, TSEN54	Duplication (inframe_insertion +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 96673	NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)	LOC112533671, TSEN54 (E4D)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 5 +5 more	GBenign
Select item 96671	NM_207346.3(TSEN54):c.114T>G (p.His38Gln)	TSEN54 (H38Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +3 more	GBenign
Select item 96670	NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)	TSEN54	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 38455	NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)	TSEN54 (S93P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 30751	NM_207346.3(TSEN54):c.1172_1185del (p.Gln391fs)	TSEN54 (Q391fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2123	NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter)	TSEN54 (Q343*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 4	GPathogenic
Select item 2122	NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)	TSEN54 (Q246*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 5 +1 more	GPathogenic/Likely pathogenic
Select item 2121	TSEN54:c.[277T>C;919G>T]	TSEN54 (A307S +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A	GLikely pathogenic
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +14 more	GPathogenic/Likely pathogenic

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Items: 32