U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMC1, EMC1-AS1
Single nucleotide variant
(splice donor variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GLikely pathogenic
EMC1, EMC1-AS1
(L534M +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1, EMC1-AS1
(L739I +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1, EMC1-AS1
(G745V +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1
Single nucleotide variant
(synonymous variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1, EMC1-AS1
(A211V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1-AS1, EMC1
(P252S +1 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GUncertain significance
EMC1, EMC1-AS1
(Q199* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GPathogenic
EMC1, EMC1-AS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EMC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EMC1, EMC1-AS1
(G686E +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GUncertain significance
EMC1
(R108H +1 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GUncertain significance
EMC1
(Y142* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
EMC1
(H133L +1 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+2 more
GUncertain significance
EMC1, EMC1-AS1
(E870* +4 more)
Single nucleotide variant
(nonsense)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GLikely pathogenic
EMC1, EMC1-AS1
(W535L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EMC1
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EMC1, EMC1-AS1
(P216L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
EMC1, EMC1-AS1
(Q224P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GBenign
EMC1, EMC1-AS1
(S325N +2 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GBenign
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GBenign/Likely benign
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
EMC1, EMC1-AS1
(L273S +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GBenign/Likely benign
EMC1, EMC1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+2 more
GBenign
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GBenign
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GBenign
EMC1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GBenign
EMC1, EMC1-AS1
(S323T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
EMC1, EMC1-AS1
Single nucleotide variant
(intron variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GLikely benign
EMC1, EMC1-AS1
(W498R +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GUncertain significance
EMC1, EMC1-AS1
(A818T +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GUncertain significance
EMC1, EMC1-AS1
(G842V +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1, EMC1-AS1
(V770L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EMC1, EMC1-AS1
(F369L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EMC1, EMC1-AS1
(N354T +2 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GUncertain significance
EMC1
(Q35R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EMC1, EMC1-AS1
(A728T +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EMC1, EMC1-AS1
(N348S +2 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+2 more
GUncertain significance
EMC1, EMC1-AS1
Single nucleotide variant
(splice acceptor variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GConflicting classifications of pathogenicity
EMC1, EMC1-AS1
(R362W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EMC1
(N102S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EMC1, EMC1-AS1
(P583R +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GConflicting classifications of pathogenicity
EMC1-AS1, EMC1
(P563Q +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GLikely pathogenic
EMC1-AS1, EMC1
Single nucleotide variant
(synonymous variant)
EMC1-related disorder
+2 more
GBenign/Likely benign
EMC1
Single nucleotide variant
(splice acceptor variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GLikely pathogenic
EMC1
(A144T +1 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
+1 more
GConflicting classifications of pathogenicity
EMC1-AS1, EMC1
(G471R +2 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, visual impairment, and psychomotor retardation;
GPathogenic
EMC1, EMC1-AS1
(G868R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMC1
(T82M)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
EMC1, EMC1-AS1
(P874fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination