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Links from MedGen

Items: 1 to 100 of 336

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
(V22D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MKKS
(L373fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic
MKKS
(Q226E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(T112S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(L292R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(W478R)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(D314fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
MKKS
(T255A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(R23S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(W405R)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(N101S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(L26V)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(P16L)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
(W383*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic
MKKS
(E191D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(T319S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Insertion
(inframe_insertion)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(H528R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(A482E)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(R281T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(L64P)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(D435V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(R517H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(V22I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(S87G)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(I220T)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(Q550P)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(I297V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
(S346N)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(I468V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(P203S)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(T18I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(I157V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(S145*)
Duplication
(nonsense)
Bardet-Biedl syndrome 6
+2 more
GPathogenic/Likely pathogenic
MKKS
(H395Y)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Deletion
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
MKKS
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(H287N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(T171A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
MKKS
(L397V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(S535N)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(I210V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(I201T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(Q275H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(I313V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(C55S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Duplication
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(T112R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
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
(S249F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(C438G)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(D483Y)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
MKKS
(V480I)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
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)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
MKKS
Microsatellite
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
McKusick-Kaufman syndrome
+2 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
(C525fs)
Duplication
(frameshift variant +1 more)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(H84P)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
+1 more
GUncertain significance
MKKS
(W490C)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
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