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Items: 1 to 100 of 1930

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
GPathogenic
NELFA, NICOL1
+504 more
Copy number loss
See cases
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
AFAP1, AFAP1-AS1
+633 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+504 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
ABLIM2, ADD1
+461 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+597 more
Copy number loss
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC129992002, LOC129992003
+597 more
Copy number loss
See cases
GPathogenic
LOC101928279, LOC101928306
+346 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+479 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+569 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+536 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+363 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+657 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+623 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
NSD2, NSG1
+438 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+618 more
Copy number gain
See cases
GPathogenic
LOC129992049, LOC129992050
+537 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 more
Copy number gain
See cases
GPathogenic
LOC129992176, LOC129992177
+439 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+414 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+500 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+216 more
Copy number loss
See cases
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADRA2C, BLOC1S4
+181 more
Deletion
not provided
GLikely pathogenic
ABLIM2, ACOX3
+365 more
Copy number loss
See cases
GPathogenic
CYTL1, EVC
+29 more
Copy number gain
See cases
GUncertain significance
EVC, EVC2
(P41H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
EVC, EVC2
(L31P)
Single nucleotide variant
(missense variant +1 more)
EVC2-related disorder
+4 more
GConflicting classifications of pathogenicity
EVC, EVC2
(L18F)
Single nucleotide variant
(missense variant +1 more)
Ellis-van Creveld syndrome
+3 more
GBenign
EVC, EVC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Curry-Hall syndrome
+2 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)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
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
LOC129992144, EVC
Deletion
(inframe_deletion +1 more)
Curry-Hall 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)
Curry-Hall syndrome
+1 more
GPathogenic
LOC129992144, EVC
(M1L)
Single nucleotide variant
(missense variant +1 more)
Curry-Hall syndrome
+1 more
GPathogenic
EVC, LOC129992144
(M1V)
Single nucleotide variant
(missense variant +1 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
(M1T)
Single nucleotide variant
(missense variant +1 more)
Curry-Hall syndrome
+1 more
GLikely pathogenic
EVC, LOC129992144
(M1K)
Single nucleotide variant
(missense variant +1 more)
Curry-Hall syndrome
+1 more
GPathogenic/Likely 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
EVC, LOC129992144
(R3P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 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
+1 more
GLikely benign
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC, LOC129992144
Deletion
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic/Likely pathogenic
EVC, LOC129992144
(K9fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC, LOC129992144
(K9*)
Single nucleotide variant
(nonsense)
Ellis-van Creveld syndrome
+1 more
GPathogenic
EVC, LOC129992144
(K9fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC, LOC129992144
Single nucleotide variant
(synonymous variant)
Curry-Hall 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)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC
(R13W)
Single nucleotide variant
(missense variant)
Ellis-van Creveld 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)
Ellis-van Creveld 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)
Ellis-van Creveld 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)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(G17fs)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
(G17W)
Single nucleotide variant
(missense variant)
Ellis-van Creveld 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)
Curry-Hall syndrome
+1 more
GLikely pathogenic
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)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC
(D19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+2 more
GLikely benign
EVC
(A20P)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC
(L21fs)
Insertion
(frameshift variant)
Ellis-van Creveld syndrome
GLikely pathogenic
EVC
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC
(P25fs)
Duplication
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic
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