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Links from MedGen

Items: 1 to 100 of 231

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKS1
(T280P +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 28
+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
(intron variant)
Meckel syndrome, type 1
GUncertain significance
MKS1
(R290fs +1 more)
Deletion
(frameshift variant)
Meckel syndrome, type 1
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
(C155fs +1 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+4 more
GPathogenic/Likely pathogenic
MKS1
(K17* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 13
+4 more
GPathogenic/Likely pathogenic
MKS1
(T173fs +1 more)
Duplication
(frameshift variant)
Meckel syndrome, type 1
+3 more
GPathogenic/Likely pathogenic
MKS1
(G438R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MKS1
(H271fs +1 more)
Deletion
(frameshift variant)
Meckel-Gruber syndrome
+1 more
GPathogenic
MKS1
Single nucleotide variant
(intron variant)
Joubert syndrome 28
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 28
+4 more
GPathogenic/Likely pathogenic
MKS1
(Q273E +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(E475G +2 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
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)
Joubert syndrome 28
+4 more
GUncertain significance
MKS1
(R143I)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(R260W +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(R335L +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+1 more
GLikely benign
MKS1
(R166Q)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 1
+2 more
GUncertain significance
MKS1
(V77M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(L290M +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
MKS1
(Y10C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MKS1
(E495G +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(V196I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
Meckel syndrome, type 1
GUncertain significance
MKS1
(G530S)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GLikely benign
MKS1
(R67H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(R537H +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(V336A +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(T376M +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(R279W +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(R158Q)
Single nucleotide variant
(missense variant +1 more)
MKS1-related condition
+2 more
GUncertain significance
MKS1
(P274L +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GLikely benign
MKS1
(P212T +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(V512M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
MKS1
(Q408* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 28
+4 more
GPathogenic/Likely pathogenic
MKS1
(R312L +2 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
MKS1
(C196F +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(R76Q +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(P374L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MKS1
(R538H +1 more)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+6 more
GUncertain significance
MKS1
(V283L +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(R123*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 13
+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)
Familial aplasia of the vermis
+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)
Familial aplasia of the vermis
+3 more
GUncertain significance
MKS1
(S549Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Meckel syndrome, type 1
+2 more
GUncertain significance
MKS1
(N136T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+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)
Familial aplasia of the vermis
+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)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+2 more
GUncertain significance
MKS1
(K285R +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(R108C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+6 more
GConflicting classifications of pathogenicity
MKS1
(A364P +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
MKS1
(H271D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MKS1
(P553S +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(V299A +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+1 more
GUncertain significance
MKS1
(W441R +2 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
LOC130061271, MKS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
+1 more
GLikely benign
MKS1
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+1 more
GLikely benign
MKS1
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+1 more
GLikely benign
MKS1
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
MKS1
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+2 more
GLikely benign
MKS1
(R269G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(R208H +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
MKS1
(H271Q +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 1
+5 more
GUncertain significance
MKS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
LOC130061271, MKS1
(G11A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
MKS1
(V442G +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 1
+5 more
GUncertain significance
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