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Links from MedGen

Items: 1 to 100 of 175

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKS1
(E298* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(Q87*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(E256fs +1 more)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(F57fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(L201fs +1 more)
Indel
(frameshift variant)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
Deletion
(splice donor variant +1 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(E256fs +1 more)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(T280P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
Meckel syndrome, type 1
+2 more
GUncertain significance
MKS1
(D132E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Meckel syndrome, type 1
+2 more
GUncertain significance
MKS1
(S185Y +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 1
+2 more
GUncertain significance
MKS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(C358* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 13
+2 more
GPathogenic/Likely pathogenic
MKS1
(P43fs)
Duplication
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+2 more
GPathogenic/Likely pathogenic
MKS1
Microsatellite
Meckel-Gruber syndrome
+2 more
GPathogenic/Likely pathogenic
MKS1
(Q349* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+2 more
GPathogenic/Likely pathogenic
MKS1
Single nucleotide variant
(intron variant +1 more)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(C492W +3 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(Y258* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(Y128fs +1 more)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(N113fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(E278* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(T243fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(K239fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(Q291* +1 more)
Single nucleotide variant
(nonsense +1 more)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
(W261* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(E134* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(S142fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(T146fs)
Deletion
(frameshift variant +1 more)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(R180fs)
Deletion
(5 prime UTR variant +1 more)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(Q81*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(G114* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(E268fs +1 more)
Indel
(frameshift variant +1 more)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
(G211fs +1 more)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice donor variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Meckel-Gruber syndrome
+2 more
GPathogenic
MKS1
(C155fs +1 more)
Deletion
(frameshift variant)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
(K17* +1 more)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
(S269fs +1 more)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+2 more
GPathogenic/Likely pathogenic
MKS1
(S141* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
MKS1
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+2 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice donor variant)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
(T264M +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 28
+4 more
GUncertain significance
MKS1
(V116I +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 1
+5 more
GUncertain significance
MKS1
Single nucleotide variant
Bardet-Biedl syndrome 13
GUncertain significance
MKS1
(Q408* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 13
+4 more
GPathogenic/Likely pathogenic
MKS1
(R538H +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
+6 more
GUncertain significance
MKS1
(R123*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+2 more
GPathogenic
LOC130061271, MKS1
(T4S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+4 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 13
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 1
+1 more
GUncertain significance
MKS1
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 1
+1 more
GBenign/Likely benign
MKS1
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+3 more
GUncertain significance
MKS1
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 1
+1 more
GUncertain significance
MKS1
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 1
+1 more
GUncertain significance
MKS1
(R533H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GUncertain significance
MKS1
(S549Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+2 more
GUncertain significance
MKS1
(N136T)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 1
+3 more
GUncertain significance
MKS1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+3 more
GUncertain significance
LOC130061271, MKS1
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 1
+1 more
GUncertain significance
LOC130061271, MKS1
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 1
+1 more
GUncertain significance
MKS1
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 13
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(intron variant)
Meckel syndrome, type 1
+1 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 13
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 1
+2 more
GConflicting classifications of pathogenicity
MKS1
(R108C)
Single nucleotide variant
(5 prime UTR variant +1 more)
MKS1-related disorder
+7 more
GConflicting classifications of pathogenicity
MKS1
(S153*)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+2 more
GPathogenic/Likely pathogenic
MKS1
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 1
+4 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MKS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 13
+2 more
GBenign
MKS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 13
+2 more
GBenign
MKS1
(R124*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Meckel syndrome, type 1
+5 more
GConflicting classifications of pathogenicity
MKS1
(H271Q +1 more)
Single nucleotide variant
(missense variant)
MKS1-related disorder
+6 more
GUncertain significance
MKS1
(V442G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+5 more
GUncertain significance
MKS1
(R489C +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 13
+3 more
GUncertain significance
MKS1
(T243M +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
LOC130061271, MKS1
(M1V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
(T423I +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 28
+2 more
GUncertain significance
LOC130061271, MKS1
Deletion
(genic upstream transcript variant)
Meckel syndrome, type 1
+2 more
GUncertain significance
MKS1
(R276fs +1 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 28
+2 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 13
+4 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant +1 more)
Bardet-Biedl syndrome 13
+2 more
GLikely pathogenic
MKS1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 28
+4 more
GConflicting classifications of pathogenicity
MKS1
Deletion
(inframe_deletion +1 more)
Joubert syndrome 28
+2 more
GUncertain significance
MKS1
Microsatellite
(inframe_insertion)
Joubert syndrome 28
+2 more
GUncertain significance
MKS1
(F296fs +3 more)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 13
+5 more
GConflicting classifications of pathogenicity
MKS1
Indel
(intron variant)
Joubert syndrome 28
+2 more
GUncertain significance
MKS1
(M336fs +2 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 28
+2 more
GUncertain significance
MKS1
(E277* +1 more)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
(R534* +2 more)
Single nucleotide variant
(nonsense +2 more)
Meckel syndrome, type 1
+4 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(intron variant +1 more)
Meckel syndrome, type 1
+2 more
GLikely pathogenic
MKS1
Deletion
(inframe_indel +1 more)
Joubert syndrome 28
+2 more
GUncertain significance
MKS1
(S511fs +3 more)
Deletion
(frameshift variant)
not specified
+5 more
GUncertain significance
MKS1
(T360del +1 more)
Microsatellite
(inframe_deletion)
Joubert syndrome 28
+2 more
GUncertain significance
MKS1
(E541* +2 more)
Single nucleotide variant
(nonsense +2 more)
Meckel syndrome, type 1
+4 more
GUncertain significance
MKS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 13
+5 more
GLikely pathogenic
MKS1
(G255R +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 28
+6 more
GUncertain significance
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