ClinVar for MedGen (Select 863738) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256766	NM_018294.6(CWF19L1):c.1552G>A (p.Glu518Lys)	CWF19L1, CHUK-DT (E273K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 3056968	NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)	CHUK-DT, CWF19L1 (R278H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GBenign
Select item 2497675	NM_018294.6(CWF19L1):c.1375-2A>G	CWF19L1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 2497673	NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)	CWF19L1 (I14S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 2429271	NM_018294.6(CWF19L1):c.1045-2A>C	CWF19L1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 1711160	NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)	CWF19L1 (S137fs +2 more)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 1711159	NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)	CWF19L1 (A220V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 1711123	NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)	CWF19L1 (G112V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 1685293	NM_018294.6(CWF19L1):c.187+1G>T	CWF19L1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 1678624	NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu)	CWF19L1 (K110E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 1678602	NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter)	CHUK-DT, CWF19L1 (W263* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 1322180	NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)	CWF19L1 (K174* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 996893	NM_018294.6(CWF19L1):c.708+294_1044+1540del	CWF19L1	Deletion (splice acceptor variant +2 more)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 984934	NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter)	CWF19L1 (E117*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 981166	NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly)	CWF19L1 (C104G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 976766	NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)	CWF19L1 (R222Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 976765	NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)	CWF19L1 (Q127* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 813893	NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)	CWF19L1 (K142fs +2 more)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 806557	NM_018294.6(CWF19L1):c.942del (p.Pro315fs)	CWF19L1 (P178fs +2 more)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GLikely pathogenic
Select item 800879	NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)	CWF19L1 (Y202* +1 more)	Duplication (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 730375	NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr)	CWF19L1 (H314Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GBenign
Select item 488455	NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del)	CHUK-DT, CWF19L1 (E519del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GUncertain significance
Select item 488454	NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)	CWF19L1 (E384* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 253212	NM_018294.6(CWF19L1):c.467del (p.Pro156fs)	CWF19L1 (P156fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GPathogenic/Likely pathogenic
Select item 253210	NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter)	CWF19L1 (K316* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 128882	NM_018294.6(CWF19L1):c.964+1G>A	CWF19L1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 26