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Items: 72

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
A4GALT, ACR
+580 more
Copy number loss
See cases
GPathogenic
LOC126863184, LOC126863185
+541 more
Copy number gain
See cases
GPathogenic
LOC130067605, LOC130067606
+303 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+523 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+521 more
Copy number loss
See cases
GPathogenic
A4GALT, ALG12
+428 more
Copy number loss
See cases
GPathogenic
A4GALT, ADM2
+502 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+495 more
Copy number gain
See cases
GPathogenic
CIMAP1B, CPT1B
+492 more
Copy number gain
See cases
GPathogenic
ARFGAP3, LOC112695101
+19 more
Copy number loss
Premature ovarian failure
GUncertain significance
LOC130067640, LOC130067641
+483 more
Copy number loss
See cases
GPathogenic
ADM2, ALG12
+481 more
Copy number loss
See cases
GPathogenic
PACSIN2
(R470H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(E418K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(T374S +4 more)
Single nucleotide variant
(missense variant)
Myoepithelial tumor
GUncertain significance
PACSIN2
(E452G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(V388A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(S427L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(T330M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(D356Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(Y396C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(E309K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(S377T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACSIN2
(P338L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(E316D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(Y226N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(K223T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PACSIN2
(G137S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PACSIN2
(G86S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(A44D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(A85T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(V79L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(T37I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(G77R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACSIN2
(R30W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC112695101, LOC112695102
+9 more
Copy number loss
See cases
GLikely benign
LOC130067622, LOC130067623
+5 more
Copy number gain
See cases
GUncertain significance
A4GALT, ADM2
+78 more
Copy number loss
not specified
GPathogenic
A4GALT, ACO2
+106 more
Copy number gain
not specified
GPathogenic
ARFGAP3, BIK
+6 more
Copy number gain
not provided
GUncertain significance
A4GALT, ACR
+82 more
Copy number loss
not specified
GPathogenic
A4GALT, ARFGAP3
+12 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACR
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
A4GALT, ARFGAP3
+19 more
Deletion
Developmental delay with variable intellectual impairment and behavioral abnormalities
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
A4GALT, ACO2
+126 more
Copy number gain
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
ARFGAP3, PACSIN2
+1 more
Copy number loss
not provided
GUncertain significance
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
A4GALT, ARFGAP3
+14 more
Copy number gain
not provided
GUncertain significance
A4GALT, ACR
+92 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
A4GALT, ACR
+83 more
Copy number loss
not provided
GPathogenic
A4GALT, ACR
+79 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+77 more
Copy number loss
not provided
GPathogenic
PACSIN2
Copy number loss
not provided
GUncertain significance
A4GALT, ACR
+79 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+77 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+91 more
Copy number loss
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
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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