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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
LOC130067596, LOC130067597
+687 more
Copy number gain
See cases
GPathogenic
ACO2, CCDC134
+109 more
Copy number gain
See cases
GPathogenic
LOC130067562, LOC130067566
+78 more
Deletion
Immunodeficiency, common variable, 4
GUncertain significance
LOC130067597, LOC130067598
+91 more
Copy number loss
See cases
GUncertain significance
CCDC134, CENPM
+35 more
Copy number gain
See cases
GUncertain significance
A4GALT, ACR
+580 more
Copy number loss
See cases
GPathogenic
SEPTIN3
(A26V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SEPTIN3
(M43V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN3
(R24C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN3
(R31Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN3
(V110I +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(D522E +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(I82T +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(R109H +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(V199I +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(Q222R +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(R678K +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(K211N +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN3
(P835L +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACO2, CCDC134
+29 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACO2
+106 more
Copy number gain
not specified
GPathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
ATP5MGL, CCDC134
+38 more
Duplication
Immunodeficiency, common variable, 4
GUncertain significance
A4GALT, ACR
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
BIK, BRD1
+94 more
Deletion
Intellectual disability
GPathogenic
WBP2NL, ARFGAP3
+21 more
Deletion
Intellectual disability
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
SREBF2, MEI1
+7 more
Copy number gain
not provided
GUncertain significance
MEI1, MIR33A
+14 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACO2
+126 more
Copy number gain
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
NDUFA6, WBP2NL
+21 more
Copy number gain
not provided
GLikely pathogenic
ACO2, CCDC134
+22 more
Copy number gain
See cases
GUncertain significance
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
SMDT1, NDUFA6
+13 more
Copy number loss
See cases
GUncertain significance
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
ADM2, A4GALT
+128 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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