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 163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+690 more
Copy number gain
See cases
GPathogenic
LOC126860615, LOC126860616
+435 more
Copy number gain
See cases
GLikely pathogenic
LOC130001735, LOC130001736
+503 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ANKRD18B, ARID3C
+71 more
Copy number gain
not specified
GUncertain significance
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
GALT, IL11RA
+4 more
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
LOC129662434, LOC130001682
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
IL11RA
Microsatellite
(intron variant)
not provided
GBenign
IL11RA
Microsatellite
(intron variant)
not provided
GLikely benign
IL11RA
Microsatellite
(intron variant)
not provided
GBenign
IL11RA
Insertion
(intron variant)
not provided
GBenign
IL11RA
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
IL11RA
(Q28fs)
Duplication
(frameshift variant +1 more)
IL11RA-related disorder
GLikely pathogenic
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
IL11RA-related disorder
GLikely benign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
(S43F)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(splice acceptor variant)
IL11RA-related disorder
GLikely pathogenic
IL11RA
(P65T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
(G90D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(C94Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(C94F)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis and dental anomalies
GLikely pathogenic
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(splice donor variant)
Craniosynostosis and dental anomalies
GUncertain significance
IL11RA
(R115C)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
GUncertain significance
IL11RA
(R115H)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
IL11RA
(P116L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(A122V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
(P134S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(R143C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IL11RA
(Q159*)
Single nucleotide variant
(nonsense +1 more)
Craniosynostosis and dental anomalies
GPathogenic
IL11RA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
IL11RA
(A178S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL11RA
(R179C)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL11RA
(R179H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(H183Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
(P221R)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis and dental anomalies
GLikely pathogenic
IL11RA
(G231D)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL11RA
(R237*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
IL11RA
(R237Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(W240G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
IL11RA
(P243T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL11RA
(S245C)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis and dental anomalies
GPathogenic
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
IL11RA
(R261C)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis and dental anomalies
GLikely pathogenic
IL11RA
(R261H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
IL11RA
(T270M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
Craniosynostosis and dental anomalies
GLikely pathogenic
IL11RA
Single nucleotide variant
(intron variant)
not provided
GBenign
IL11RA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL11RA
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
IL11RA
(H289R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
IL11RA
(R296W)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis and dental anomalies
GPathogenic
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL11RA
Microsatellite
(inframe_insertion +1 more)
not provided
GPathogenic
IL11RA
(W307R)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
GPathogenic
IL11RA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination