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Links from MedGen

Items: 1 to 100 of 143

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKKS
(V291F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(I128fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(S61*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(Q207*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
Deletion
(nonsense +1 more)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
Microsatellite
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(F144fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(L64fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(Q496*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(W478*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(E322fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(R21*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(V296fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(S223*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(F244fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
(L74*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
Deletion
(nonsense)
Bardet-Biedl syndrome 6
GLikely pathogenic
MKKS
(D314fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(S145*)
Duplication
(nonsense)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
(E5A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
(Y37H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
(G317fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(C497Y)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 6
+2 more
GUncertain significance
MKKS
(F144fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 6
+1 more
GPathogenic/Likely pathogenic
MKKS
Deletion
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
MKKS-related condition
+3 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 6
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
McKusick-Kaufman syndrome
+2 more
GLikely benign
MKKS
(K121N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
MKKS
(E172fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(S343N)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(D314fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
(F94C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+2 more
GUncertain significance
MKKS
(H362R)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+3 more
GUncertain significance
MKKS
(N101I)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(H359Y)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(S479*)
Single nucleotide variant
(non-coding transcript variant +1 more)
McKusick-Kaufman syndrome
+2 more
GPathogenic
MKKS
Single nucleotide variant
(splice acceptor variant)
McKusick-Kaufman syndrome
+1 more
GPathogenic
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 6
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 6
+2 more
GLikely benign
MKKS
(R21fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
(G345E)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(G49V)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(H416N)
Single nucleotide variant
(missense variant +1 more)
MKKS-related condition
+3 more
GUncertain significance
MKKS
(R155H)
Single nucleotide variant
(missense variant)
MKKS-related condition
+3 more
GUncertain significance
MKKS
(G356V)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(L542W)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+4 more
GUncertain significance
MKKS
Deletion
(splice donor variant +1 more)
Bardet-Biedl syndrome 6
GPathogenic
MKKS
(H84fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
MKKS
(R139*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
MKKS
(Q59*)
Single nucleotide variant
(nonsense)
McKusick-Kaufman syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(S10*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+3 more
GPathogenic/Likely pathogenic
MKKS
(I210T)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(I432F)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(G250R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+3 more
GConflicting classifications of pathogenicity
MKKS
(Q440E)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 6
+3 more
GUncertain significance
MKKS
(N366K)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
MKKS
(C127fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
Single nucleotide variant
(5 prime UTR variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 6
+2 more
GConflicting classifications of pathogenicity
MKKS
(N557S)
Single nucleotide variant
(missense variant +1 more)
MKKS-related condition
+3 more
GUncertain significance
LOC128706665, LOC128706666
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 6
+1 more
GBenign
MKKS
(A353T)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
MKKS
(D436G)
Single nucleotide variant
(missense variant +1 more)
MKKS-related condition
+4 more
GUncertain significance
MKKS
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
(D436V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
LOC128706665, LOC128706666
+1 more
Single nucleotide variant
(5 prime UTR variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
LOC128706665, LOC128706666
+1 more
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
MKKS
(G110V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
(S533L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
MKKS
(T259fs)
Deletion
(frameshift variant)
Retinal dystrophy
+2 more
GPathogenic
MKKS
(R309H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MKKS
Single nucleotide variant
(intron variant)
MKKS-related condition
+3 more
GConflicting classifications of pathogenicity
MKKS
(R180G)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(E455K)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+3 more
GUncertain significance
MKKS
(G41R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+4 more
GConflicting classifications of pathogenicity
MKKS
(P39L)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
GPathogenic
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
MKKS
(I297T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+2 more
GConflicting classifications of pathogenicity
MKKS
(G280fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 6
+3 more
GPathogenic
MKKS
(C376F)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+2 more
GUncertain significance
MKKS
(Y264*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GPathogenic
MKKS
(S40*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
+1 more
GPathogenic/Likely pathogenic
MKKS
(K205*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GPathogenic
MKKS
(L283fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 6
+1 more
GPathogenic/Likely pathogenic
MKKS
(E20G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+4 more
GUncertain significance
MKKS
(R23G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+5 more
GConflicting classifications of pathogenicity
MKKS
(H84Y)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
(S253P)
Single nucleotide variant
(missense variant)
MKKS-related condition
+4 more
GConflicting classifications of pathogenicity
MKKS
(R139Q)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+2 more
GBenign/Likely benign
MKKS
(A242S +1 more)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
GPathogenic
MKKS
(A6T)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+3 more
GBenign/Likely benign
LOC128706665, LOC128706666
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
LOC128706665, LOC128706666
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 6
+1 more
GUncertain significance
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