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Items: 1 to 100 of 521

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060335, LOC130060336
+242 more
Copy number gain
See cases
GPathogenic
ADORA2B, ARHGAP44
+228 more
Duplication
not specified
GPathogenic
CDRT15, CDRT3
+27 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Deletion
Autosomal recessive Dejerine-Sottas syndrome
+2 more
GPathogenic
CDRT15, CDRT3
+23 more
Deletion
Schizophrenia
GLikely pathogenic
CDRT15, CDRT3
+27 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Deletion
Autism
GLikely pathogenic
CDRT15, CDRT3
+25 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+23 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+25 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+21 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+23 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+23 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+21 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+21 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+23 more
Copy number loss
See cases
GPathogenic
CDRT15, CDRT3
+21 more
Copy number gain
See cases
GPathogenic
CDRT15, CDRT3
+21 more
Copy number loss
See cases
GPathogenic
ADORA2B, CDRT3
+25 more
Copy number loss
See cases
GPathogenic
ADORA2B, CCDC144A
+137 more
Copy number loss
See cases
GPathogenic
PMP22
Duplication
Charcot-Marie-Tooth disease, type IA
GPathogenic
CDRT3, CDRT4
+15 more
Copy number gain
See cases
GUncertain significance
ADORA2B, CDRT3
+21 more
Copy number gain
See cases
GPathogenic
LOC284191, LRRC75A
+216 more
Copy number gain
See cases
GPathogenic
MIR4731, PMP22
Duplication
Charcot-Marie-Tooth disease, type I
GPathogenic
MIR4731, PMP22
Deletion
Charcot-Marie-Tooth disease, type I
GPathogenic
LOC130060307, MIR4731
+1 more
Duplication
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Microsatellite
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Microsatellite
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+2 more
GBenign/Likely benign
PMP22
Deletion
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+3 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
MIR4731, PMP22
Duplication
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(stop lost +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely benign
PMP22
(E160K)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+6 more
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
PMP22
(R159P)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
PMP22
(R159H)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
PMP22
(R159C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
PMP22
(R157G)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(R157W)
Single nucleotide variant
(missense variant +1 more)
PMP22-related disorder
+3 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
PMP22
(L156S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(Y153C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PMP22
(I152V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
PMP22
(G150V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
(G150D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
PMP22
(G150S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PMP22
(G150R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
PMP22
(G150C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely benign
PMP22
(S149R)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PMP22
(L148fs)
Microsatellite
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(L147P)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
PMP22
(L147R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely benign
PMP22
Deletion
(inframe_deletion +1 more)
Dejerine-Sottas disease
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
PMP22
(L145R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
PMP22
(L145fs)
Duplication
(frameshift variant +1 more)
Hereditary liability to pressure palsies
GUncertain significance
PMP22
(L145fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease, type I
+4 more
GPathogenic/Likely pathogenic
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