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Items: 1 to 100 of 589

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
LOC130000897, LOC130000898
+1960 more
Copy number gain
See cases
GPathogenic
SNHG6, SNORD87
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
LOC130000722, LOC130000723
+470 more
Copy number gain
See cases
GPathogenic
ARFGEF1, ARFGEF1-DT
+245 more
Copy number gain
See cases
GPathogenic
C8orf89, ELOC
+78 more
Copy number gain
See cases
GPathogenic
CASC9, CHMP4C
+169 more
Copy number loss
See cases
GPathogenic
ELOC, GDAP1
+19 more
Deletion
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
LOC130000617, LOC130000618
+191 more
Copy number loss
See cases
GPathogenic
ELOC, GDAP1
+21 more
Copy number loss
See cases
GUncertain significance
GDAP1, JPH1
+13 more
Duplication
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
not provided
GLikely benign
GDAP1
Single nucleotide variant
not provided
GLikely benign
GDAP1
Duplication
not provided
GBenign
GDAP1
Duplication
not provided
GBenign
GDAP1
Duplication
not provided
GLikely benign
GDAP1
Duplication
not provided
GBenign
GDAP1
Single nucleotide variant
not provided
GLikely benign
GDAP1
Single nucleotide variant
not provided
GBenign
GDAP1
Single nucleotide variant
not provided
GBenign
GDAP1
Deletion
Charcot-Marie-Tooth disease type 4A
GBenign
GDAP1
Deletion
(5 prime UTR variant)
Charcot-Marie-Tooth with Vocal Cord Paresis
+2 more
GBenign/Likely benign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
GDAP1, LOC130000622
(M1V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(M1fs)
Deletion
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
(A2T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
GDAP1, LOC130000622
(A2G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(R4K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(Q5*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(Q8*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(G10fs)
Microsatellite
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(Q8R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
LOC130000622, GDAP1
(R9G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1, LOC130000622
(G10R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease
GUncertain significance
GDAP1, LOC130000622
(S11R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
(P13S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(K19E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
GDAP1, LOC130000622
(A20T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
LOC130000622, GDAP1
(D21N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
GDAP1, LOC130000622
(D21fs)
Deletion
(5 prime UTR variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
GDAP1, LOC130000622
(A22V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(A22G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(V24F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
GDAP1, LOC130000622
(L26P)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(Y29D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(Y29S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
LOC130000622, GDAP1
(H30L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+3 more
GBenign/Likely benign
GDAP1, LOC130000622
(W31*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(H33Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
GDAP1, LOC130000622
(S34fs)
Duplication
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease axonal type 2K
+1 more
GUncertain significance
GDAP1, LOC130000622
(S34C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant Charcot-Marie-Tooth disease type 2K
+1 more
GUncertain significance
GDAP1, LOC130000622
Variation
(no sequence alteration +1 more)
Charcot-Marie-Tooth disease type 4A
GBenign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GBenign
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(S36R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(S36R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(S37T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(Q38*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GPathogenic/Likely pathogenic
GDAP1, LOC130000622
(Q38R)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
GUncertain significance
GDAP1, LOC130000622
(K39fs)
Deletion
(frameshift variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(K39R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
GDAP1, LOC130000622
(K39N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(splice donor variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
LOC130000622, GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+2 more
GBenign/Likely benign
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2K
+5 more
GBenign
GDAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
GDAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
GDAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
GDAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Deletion
(intron variant)
not provided
GUncertain significance
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