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Links from MedGen

Items: 1 to 100 of 1175

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(D2408E +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GUncertain significance
SACS
(L730* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(C3902* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(W3656fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(K4140fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R2355fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(T3137fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(I1441fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(K3048fs +1 more)
Indel
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(F2543fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q1169* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(K1082* +1 more)
Duplication
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q579* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(F152fs +1 more)
Indel
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(K1448fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(P2570fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
+1 more
GPathogenic/Likely pathogenic
SACS
(S1328* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q1044* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(K130*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Y4030fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(L3075fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R3641fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(K2544* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(G86fs)
Deletion
(frameshift variant +1 more)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Y4331* +1 more)
Duplication
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(V4028fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(L1265fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
Deletion
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S80*)
Single nucleotide variant
(nonsense +1 more)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S727fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(L3503fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R583fs +1 more)
Indel
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q1505* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(S250fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
+1 more
GPathogenic
SACS
(D236fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S1654* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(G2789fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
+1 more
GPathogenic/Likely pathogenic
SACS
(W1457* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(C3979* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(G3978* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(D3836fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q2889* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(E3365fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(M653fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Deletion
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(P1075fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S4110fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Deletion
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R2645fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(N2893fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Deletion
(splice donor variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(D3615fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S4293* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(T4119fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(I2600fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(K3720fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(L117fs)
Microsatellite
(5 prime UTR variant +1 more)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R485W +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
+1 more
GConflicting classifications of pathogenicity
SACS
(M1039fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(V3074fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(T4011fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(T3205fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q219fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(W617* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
LOC130009366, SACS
Single nucleotide variant
(splice donor variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(L1790fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(N4224fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(E1333* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(E3584fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(L263* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(H1440R +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(T3621fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
LOC130009366, SACS
(W52*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(E2272fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(Q241* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(K1655fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
+1 more
GPathogenic/Likely pathogenic
SACS
(I4089fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(I2655fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q1481fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Q688* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R1692* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Single nucleotide variant
(splice acceptor variant +1 more)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(E3402* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(W3131* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(N1361fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Y2775fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(R829fs +1 more)
Insertion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GUncertain significance
SACS
(D4192E +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(S2944fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(P2222L +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(T2957fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(R129C +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
+2 more
GPathogenic/Likely pathogenic
SACS
(M2398fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
Duplication
(inframe_insertion)
Charlevoix-Saguenay spastic ataxia
GUncertain significance
SACS
(L649fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
Single nucleotide variant
(splice donor variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(Y1523fs +1 more)
Indel
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
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