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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(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
(Q292* +1 more)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 28
+2 more
GPathogenic/Likely pathogenic
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
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
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
(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
(R108C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+7 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)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
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)
Joubert syndrome 28
+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)
Meckel-Gruber syndrome
+5 more
GLikely pathogenic
MKS1
(G255R +1 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 13
+6 more
GUncertain significance
MKS1
(R515H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
MKS1
(D286G +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
MKS1
(P262fs +1 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 13
+4 more
GPathogenic/Likely pathogenic
MKS1
(R123fs)
Duplication
(5 prime UTR variant +1 more)
Joubert syndrome 28
+2 more
GLikely pathogenic
LOC130061271, MKS1
Single nucleotide variant
(intron variant)
Meckel syndrome, type 1
+4 more
GConflicting classifications of pathogenicity
MKS1
(E72K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 28
+4 more
GUncertain significance
MKS1
(R515C +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+5 more
GUncertain significance
MKS1
(H40Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Meckel syndrome, type 1
+7 more
GConflicting classifications of pathogenicity
MKS1
(I450T +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 1
+7 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 13
+5 more
GLikely benign
MKS1
(S506*)
Single nucleotide variant
(synonymous variant +2 more)
Bardet-Biedl syndrome 13
+5 more
GLikely benign
MKS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 13
+5 more
GLikely benign
MKS1
(T355A +1 more)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 13
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 28
GPathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 28
GPathogenic
MKS1
(V182I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+8 more
GConflicting classifications of pathogenicity
MKS1
(R123Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
MKS1
(R170*)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+5 more
GPathogenic/Likely pathogenic
MKS1
(R537C +2 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 1
+5 more
GConflicting classifications of pathogenicity
MKS1
(P392L +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
MKS1
(H271N +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 1
+8 more
GUncertain significance
MKS1
(R165C)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
MKS1
(S372del +1 more)
Deletion
(inframe_deletion)
Meckel syndrome, type 1
+9 more
GPathogenic/Likely pathogenic
MKS1
(S403L +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MKS1
(R282* +1 more)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
Single nucleotide variant
(splice acceptor variant)
Meckel syndrome, type 1
+4 more
GPathogenic/Likely pathogenic
MKS1
Deletion
(intron variant)
Familial aplasia of the vermis
+7 more
GPathogenic
MKS1
(I78S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
MKS1
(R534Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
+6 more
GConflicting classifications of pathogenicity
MKS1
(Y461C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 1
+4 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
Joubert syndrome 28
+6 more
GBenign
MKS1
Single nucleotide variant
(intron variant)
Joubert syndrome 28
+3 more
GBenign
MKS1
(N37S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+3 more
GUncertain significance
LOC130061271, MKS1
(D19fs)
Duplication
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+4 more
GPathogenic/Likely pathogenic
MKS1
Single nucleotide variant
(intron variant +1 more)
Familial aplasia of the vermis
+4 more
GPathogenic/Likely pathogenic
MKS1
(T62fs)
Deletion
(5 prime UTR variant +1 more)
Meckel-Gruber syndrome
+5 more
GPathogenic/Likely pathogenic
MKS1
(T282fs +1 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 13
+6 more
GPathogenic/Likely pathogenic
MKS1
(C492W +1 more)
Single nucleotide variant
(missense variant +1 more)
Polydactyly
+9 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+7 more
GPathogenic/Likely pathogenic
MKS1
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic/Likely pathogenic
LOC130061271, MKS1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 28
+2 more
GLikely pathogenic
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