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 421

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
LOC130001371, LOC130001372
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001420, LOC130001421
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001415, LOC130001416
+1067 more
Copy number gain
See cases
GPathogenic
LOC110120802, LOC111556135
+93 more
Copy number loss
See cases
GPathogenic
AARD, ANXA13
+314 more
Copy number loss
See cases
GPathogenic
MTBP, RAD21
+101 more
Copy number loss
See cases
GPathogenic
LOC124188223, LOC124188224
+961 more
Copy number gain
See cases
GPathogenic
AARD, CCN3
+108 more
Copy number loss
See cases
GPathogenic
AARD, CCN3
+106 more
Copy number loss
See cases
GPathogenic
CCN3, CCN4
+558 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AARD, EIF3H
+19 more
Copy number loss
See cases
GUncertain significance
RAD21
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(I630M)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(I630V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAD21
(A622T)
Single nucleotide variant
(missense variant)
Mungan syndrome
GPathogenic
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(I621M)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(I620F)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GLikely pathogenic
RAD21
(S618G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(E615*)
Single nucleotide variant
(nonsense)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
Single nucleotide variant
(synonymous variant)
RAD21-related disorder
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(K605N)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(K604R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
+1 more
GUncertain significance
RAD21
(L603P)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GLikely pathogenic
RAD21
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GConflicting classifications of pathogenicity
RAD21
(Q592del)
Deletion
(inframe_deletion)
Cornelia de Lange syndrome 4
GLikely pathogenic
RAD21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAD21
(R586Q)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
+1 more
GUncertain significance
RAD21
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAD21
(L581S)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
RAD21
(I579V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RAD21
(E577K)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(A576V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(G575A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(L571F)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(R569H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAD21
Single nucleotide variant
(splice acceptor variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Deletion
(intron variant)
not provided
GLikely benign
RAD21
Deletion
(intron variant)
not provided
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD21
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD21
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAD21
Deletion
(splice acceptor variant +1 more)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
Duplication
(intron variant)
not provided
GBenign
RAD21
Duplication
(intron variant)
not provided
GBenign
RAD21
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAD21
(H565R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(Q551fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RAD21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAD21
(G547fs)
Deletion
(frameshift variant)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
+1 more
GLikely benign
RAD21
(D543N)
Single nucleotide variant
(missense variant)
RAD21-related disorder
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD21
Duplication
(intron variant)
not provided
GBenign
RAD21
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD21
Microsatellite
(intron variant)
Cornelia de Lange syndrome 4
GBenign
RAD21
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RAD21
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RAD21
Deletion
(inframe_deletion)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(E534D)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(K531R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Duplication
(inframe_insertion)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(E528Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAD21
(K527del)
Deletion
(inframe_deletion)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(E526Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAD21
(L522V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
RAD21
(E518fs)
Duplication
(frameshift variant)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
(P517S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(E518fs)
Indel
(frameshift variant)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
(C513S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(C513F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAD21
(N511S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
+1 more
GConflicting classifications of pathogenicity
RAD21
(P510A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
Format
Items per page
Sort by
Choose Destination