U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 2078

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
ADD1, ADRA2C
+327 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
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
GBenign
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
GBenign
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
GLikely benign
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
+1 more
GConflicting classifications of pathogenicity
EVC2
Single nucleotide variant
(3 prime UTR variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(D1228G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EVC2
(M1307L +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(L1305V +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(A1224V +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Duplication
(inframe_insertion)
Meckel-Gruber syndrome
GLikely pathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(K1293del +1 more)
Microsatellite
(inframe_deletion)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(K1213* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(P1208L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EVC2
(P1288fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
GUncertain significance
EVC2
(V1287I +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+2 more
GConflicting classifications of pathogenicity
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+2 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(L1205P +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(E1202D +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+2 more
GConflicting classifications of pathogenicity
EVC2
(K1199E +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
(R1196I +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(K1191* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(G1269* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
GPathogenic
EVC2
(L1266* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
GPathogenic
EVC2
(L1266* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(L1265fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
GPathogenic
EVC2
(I1183F +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
EVC2
(E1181V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EVC2
(A1180V +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+2 more
GUncertain significance
EVC2
(A1260fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
EVC2
(A1180fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+1 more
GLikely benign
EVC2
(V1178L +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+1 more
GUncertain significance
EVC2
Single nucleotide variant
(synonymous variant)
Curry-Hall syndrome
+1 more
GLikely benign
EVC2
(I1257T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EVC2
(V1175fs +1 more)
Deletion
(frameshift variant)
Curry-Hall syndrome
+1 more
GPathogenic
EVC2
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+2 more
GLikely benign
EVC2
(P1254A +1 more)
Single nucleotide variant
(missense variant)
Curry-Hall syndrome
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination