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Items: 1 to 100 of 672

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132088675, LOC132088682
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
LOC129931748, LOC129931749
+63 more
Duplication
Gastrointestinal stromal tumor
+1 more
GUncertain significance
ADAMTS4, APOA2
+58 more
Copy number gain
See cases
GUncertain significance
MPZ
Single nucleotide variant
(genic downstream transcript variant)
not provided
GBenign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Roussy-Lévy syndrome
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+5 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Microsatellite
(3 prime UTR variant)
Charcot-Marie-Tooth, Intermediate
+4 more
GBenign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth, Intermediate
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+5 more
GBenign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Roussy-Lévy syndrome
+4 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+5 more
GBenign/Likely benign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+4 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
MPZ-related condition
+6 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant +1 more)
Roussy-Lévy syndrome
+3 more
GUncertain significance
MPZ
Duplication
(genic upstream transcript variant)
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ
(G267S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuropathy, congenital hypomyelinating, 2
+4 more
GConflicting classifications of pathogenicity
MPZ
(L251V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
(R250W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GLikely benign
MPZ
Single nucleotide variant
(stop lost)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(K248E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(K248*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(D246N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(R244L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MPZ
(R244S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MPZ
(S243F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(E242fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GUncertain significance
MPZ
(G241A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(K238N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MPZ
(K236del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MPZ
(K236E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(K235R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
MPZ
(K235E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(S233fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
MPZ
(E234*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MPZ
(S233R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+4 more
GLikely pathogenic
MPZ
(A231D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPZ
(A231T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(A231P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(T229A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Neuropathy, congenital hypomyelinating, 2
+8 more
GBenign/Likely benign
MPZ
(S228N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(R227S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic/Likely pathogenic
MPZ
(R227G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(R227*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(H225Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPZ
(D224Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
MPZ
(M222fs)
Duplication
(frameshift variant)
Dejerine-Sottas disease
GUncertain significance
MPZ
(A221V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(A221T)
Single nucleotide variant
(missense variant)
Dejerine-Sottas disease
GUncertain significance
MPZ
(Y220C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Duplication
(splice acceptor variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MPZ
Deletion
(splice acceptor variant)
Charcot-Marie-Tooth disease type 1B
+1 more
GConflicting classifications of pathogenicity
MPZ
(P217A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(P217S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(T216fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
MPZ
Indel
(splice acceptor variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(T216A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(splice acceptor variant)
Peripheral neuropathy
GLikely pathogenic
MPZ
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
not provided
GBenign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
MPZ
Duplication
(splice donor variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
MPZ
(Q215*)
Single nucleotide variant
(nonsense)
Neuropathy, congenital hypomyelinating, 2
GPathogenic
MPZ
(R214L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(R214Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
MPZ
(G213fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
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