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Links from MedGen

Items: 1 to 100 of 466

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKKS
(S156R)
Single nucleotide variant
(missense variant)
McKusick-Kaufman syndrome
GUncertain significance
MKKS
(L549P)
Single nucleotide variant
(missense variant +1 more)
McKusick-Kaufman syndrome
GLikely pathogenic
MKKS
Insertion
(nonsense)
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
Single nucleotide variant
(synonymous variant +1 more)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
(R517C)
Indel
(missense variant +1 more)
McKusick-Kaufman 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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman 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)
McKusick-Kaufman 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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
(L397fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
MKKS
Deletion
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
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
Single nucleotide variant
(synonymous variant +1 more)
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 +1 more)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron 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
+1 more
GLikely benign
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
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
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
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)
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)
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)
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)
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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
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)
McKusick-Kaufman 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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
MKKS-related condition
+2 more
GLikely benign
MKKS
(S86*)
Single nucleotide variant
(nonsense)
McKusick-Kaufman syndrome
+1 more
GPathogenic
MKKS
Single nucleotide variant
(intron variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman 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)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant)
McKusick-Kaufman syndrome
+1 more
GLikely benign
MKKS
Single nucleotide variant
(synonymous variant +1 more)
McKusick-Kaufman syndrome
+1 more
GLikely benign
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