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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CWF19L1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
(I14S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(S137fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(A220V +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 17
GUncertain significance
CWF19L1
(G112V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(K110E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 17
GUncertain significance
CHUK-DT, CWF19L1
(W263* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive spinocerebellar ataxia 17
GUncertain significance
CWF19L1
(K174* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
Deletion
(splice acceptor variant +2 more)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
(E117*)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(C104G +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 17
GUncertain significance
CWF19L1
(R222Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(Q127* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
(K142fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(P178fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive spinocerebellar ataxia 17
+1 more
GLikely pathogenic
CWF19L1
(Y202* +1 more)
Duplication
(nonsense +1 more)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
(H314Y +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 17
+1 more
GBenign
CHUK-DT, CWF19L1
(E519del +3 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
CWF19L1
(E384* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive spinocerebellar ataxia 17
GLikely pathogenic
CWF19L1
(P156fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive spinocerebellar ataxia 17
+1 more
GPathogenic/Likely pathogenic
CWF19L1
(K316* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive spinocerebellar ataxia 17
GPathogenic
CWF19L1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
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