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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL7
Single nucleotide variant
(intron variant)
PERCHING syndrome
GUncertain significance
KLHL7
(V37G +1 more)
Single nucleotide variant
(missense variant +1 more)
PERCHING syndrome
GUncertain significance
KLHL7
Single nucleotide variant
(intron variant)
PERCHING syndrome
GLikely pathogenic
KLHL7
(W166C +1 more)
Single nucleotide variant
(missense variant +1 more)
PERCHING syndrome
GPathogenic
KLHL7
(S267fs +1 more)
Deletion
(frameshift variant +1 more)
PERCHING syndrome
GLikely pathogenic
KLHL7
(L224P +1 more)
Single nucleotide variant
(missense variant +1 more)
PERCHING syndrome
GLikely pathogenic
KLHL7
Single nucleotide variant
(intron variant)
PERCHING syndrome
GLikely pathogenic
KLHL7
(R324* +1 more)
Single nucleotide variant
(nonsense +1 more)
PERCHING syndrome
GPathogenic
KLHL7
(Y269* +1 more)
Single nucleotide variant
(nonsense +1 more)
PERCHING syndrome
GPathogenic
KLHL7
(R141* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
KLHL7
(R351* +1 more)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental delay
+2 more
GPathogenic
KLHL7
Deletion
(intron variant)
PERCHING syndrome
GBenign
KLHL7
Single nucleotide variant
(non-coding transcript variant +1 more)
PERCHING syndrome
GBenign
KLHL7
Single nucleotide variant
(splice donor variant)
Ulnar deviation of the wrist
+1 more
GLikely pathogenic
KLHL7
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KLHL7
(V61del +1 more)
Microsatellite
(inframe_deletion +1 more)
PERCHING syndrome
GConflicting classifications of pathogenicity
KLHL7
Single nucleotide variant
(synonymous variant +1 more)
PERCHING syndrome
+2 more
GBenign
KLHL7
(R326* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bohring-Opitz-like syndrome
+3 more
GConflicting classifications of pathogenicity
KLHL7
(R372Q +1 more)
Single nucleotide variant
(missense variant +1 more)
PERCHING syndrome
+1 more
GPathogenic
KLHL7
(L293fs +1 more)
Deletion
(frameshift variant +1 more)
PERCHING syndrome
+1 more
GPathogenic
KLHL7
(R420C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
KLHL7
(C421S +1 more)
Single nucleotide variant
(missense variant +1 more)
PERCHING syndrome
+1 more
GPathogenic
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