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Items: 1 to 100 of 279

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
ANKRD11, CHMP1A
+27 more
Copy number gain
See cases
GUncertain significance
CDK10, CHMP1A
+35 more
Copy number loss
See cases
GUncertain significance
CHMP1A, CPNE7
+2 more
Copy number gain
See cases
GLikely benign
CDK10, CHMP1A
+35 more
Copy number loss
See cases
GUncertain significance
CDK10, CHMP1A
+38 more
Copy number loss
See cases
GUncertain significance
CHMP1A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHMP1A
(R231P)
Single nucleotide variant
(missense variant +2 more)
CHMP1A-related disorder
GLikely benign
CHMP1A
(A227V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(L224R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
CHMP1A
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
CHMP1A
(A222V)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
CHMP1A
(A222T)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 8
GUncertain significance
CHMP1A
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CHMP1A
(P210S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(R202L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(R194H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(R194C)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(P193L)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GLikely benign
CHMP1A
(P193T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(N196S)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(R186P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
Single nucleotide variant
(splice acceptor variant)
not specified
GUncertain significance
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GBenign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
(A180T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(Q186H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(E184D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(R181H)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
CHMP1A
(R170*)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely benign
CHMP1A
(R168C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
CHMP1A
(L166F)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CHMP1A
(A172T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(R165C)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CHMP1A
(R163*)
Single nucleotide variant
(nonsense +2 more)
not provided
GBenign/Likely benign
CHMP1A
(S166I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(P157T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(D163G)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
CHMP1A
(R148*)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely benign
CHMP1A
(R147C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
CHMP1A
(A138T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(A136T)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CHMP1A
(A135T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CHMP1A
(H130Y)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CHMP1A
(G129S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CHMP1A
(S135L)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
CHMP1A
(D122N)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GBenign
CHMP1A
Duplication
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GBenign
CHMP1A
Single nucleotide variant
(intron variant)
not provided
GBenign
CHMP1A
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
CHMP1A
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CHMP1A
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CHMP1A
(S127L)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GLikely benign
CHMP1A
(I120M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHMP1A
(I120V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
CHMP1A
(R117H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(G116R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(E116K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 1A
+1 more
GConflicting classifications of pathogenicity
CHMP1A
(E116Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(R109*)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely benign
CHMP1A
(D105N)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CHMP1A
(L103V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(G101S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHMP1A
(D104N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(T102A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CHMP1A
(H95Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CHMP1A
(P93S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
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