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Items: 1 to 100 of 2054

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDS5A, PGCKA1
+1270 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+427 more
Copy number loss
See cases
GPathogenic
LOC129992172, LOC129992173
+505 more
Copy number loss
See cases
GPathogenic
ABLIM2, APBB2
+1212 more
Copy number gain
See cases
GPathogenic
LOC126806985, LOC126806986
+634 more
Copy number loss
See cases
GPathogenic
AFAP1, AFAP1-AS1
+505 more
Copy number loss
See cases
GPathogenic
LOC129991989, LOC129991990
+675 more
Copy number gain
See cases
GPathogenic
LOC129992066, LOC129992067
+462 more
Copy number gain
See cases
GPathogenic
ABLIM2, BLOC1S4
+598 more
Copy number loss
See cases
GPathogenic
LOC129991987, LOC129991988
+692 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+598 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+347 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+480 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+703 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+570 more
Copy number loss
See cases
GPathogenic
LOC129992076, LOC129992077
+537 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+364 more
Copy number loss
See cases
GPathogenic
LOC129992040, LOC129992041
+658 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+624 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1041 more
Copy number gain
See cases
GPathogenic
LOC129992004, LOC129992005
+863 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+834 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+439 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+619 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+538 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+989 more
Copy number gain
See cases
GPathogenic
LOC126806968, LOC126806969
+717 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+440 more
Copy number loss
See cases
GPathogenic
LOC129992157, LOC129992158
+660 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+415 more
Copy number loss
See cases
GPathogenic
LOC129992453, LOC129992454
+1413 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992000, LOC129992001
+501 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+217 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+965 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADRA2C, BLOC1S4
+182 more
Deletion
not provided
GLikely pathogenic
ABLIM2, ACOX3
+366 more
Copy number loss
See cases
GPathogenic
LOC129992138, LOC129992139
+29 more
Copy number gain
See cases
GUncertain significance
EVC, EVC2
(P41H)
Single nucleotide variant
(missense variant +1 more)
Ellis-van Creveld syndrome
+3 more
GConflicting classifications of pathogenicity
EVC, EVC2
(L31P)
Single nucleotide variant
(missense variant +1 more)
Ellis-van Creveld syndrome
+3 more
GConflicting classifications of pathogenicity
EVC, EVC2
(L18F)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
EVC, EVC2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GBenign/Likely benign
EVC, EVC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Curry-Hall syndrome
+2 more
GBenign/Likely benign
EVC
Single nucleotide variant
(5 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC
Single nucleotide variant
(5 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC
Microsatellite
(5 prime UTR variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC, LOC129992144
(A6fs)
Duplication
(frameshift variant +1 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
Indel
(5 prime UTR variant)
not specified
GLikely benign
EVC, LOC129992144
Single nucleotide variant
(5 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC, LOC129992144
Single nucleotide variant
(5 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC, LOC129992144
Deletion
(inframe_deletion +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
Single nucleotide variant
(5 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC, LOC129992144
(M1L)
Indel
(missense variant +1 more)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, LOC129992144
(M1L)
Single nucleotide variant
(missense variant +1 more)
Curry-Hall syndrome
+1 more
GPathogenic
EVC, LOC129992144
(M1V)
Single nucleotide variant
(missense variant +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
(M1T)
Single nucleotide variant
(missense variant +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
(M1K)
Single nucleotide variant
(missense variant +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
(A2fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC, LOC129992144
(G4fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
LOC129992144, EVC
(R3P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC, LOC129992144
(G5fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC, LOC129992144
(A6fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, LOC129992144
(G5V)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+2 more
GConflicting classifications of pathogenicity
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
LOC129992144, EVC
Deletion
(nonsense)
Curry-Hall syndrome
+1 more
GPathogenic
EVC, LOC129992144
(K9fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC, LOC129992144
(K9*)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GPathogenic
EVC, LOC129992144
(K9fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC, LOC129992144
(K9N)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC, LOC129992144
(S10fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(D11N)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(R13fs)
Microsatellite
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC
(A12P)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
(R13W)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(R13fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
(R13fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
(L14fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(L16del)
Microsatellite
(inframe_deletion)
Ellis-van Creveld syndrome
GUncertain significance
EVC
(L14fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(L15fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(G17fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
(G17W)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(G17R)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
Deletion
(splice donor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
EVC
(R18W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EVC
(R18L)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+2 more
GUncertain significance
EVC
(D19fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(D19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EVC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
EVC
(A20P)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+2 more
GUncertain significance
EVC
(L21fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
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