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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
ABTB2, APIP
+100 more
Copy number gain
See cases
GPathogenic
ABTB2, APIP
+100 more
Copy number gain
See cases
GUncertain significance
APIP, CD44
+74 more
Duplication
11p13 microduplication syndrome
GUncertain significance
CD44, CD44-AS1
+66 more
Copy number loss
See cases
GUncertain significance
CD44, CD44-AS1
+56 more
Copy number loss
See cases
GUncertain significance
PAMR1
(W603C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(P641S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(P563L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(A669V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(G627D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(S602N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAMR1
(R635H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R578C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(V496M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R545Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(T463I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R531H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R460C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(D419N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R529Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(L541V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(M514V +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PAMR1
(G434R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R461H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PAMR1
(R327Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PAMR1
(R398W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(C429Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R310H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R309C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(A282T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(A266T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(V248D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(A234V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(C329W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R327I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(V310M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R192C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(N248S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(G301V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(P172T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(R159H +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PAMR1
(G228S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(D227N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(G171R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(R163W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(R185C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(Y141S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(Y181C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(D134Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(Q163R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(E89A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(V14I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAMR1
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(L16V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(T12I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(T12S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAMR1
(C5Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FJX1, PAMR1
+1 more
Copy number gain
not provided
GUncertain significance
ABTB2, APIP
+40 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ABTB2, APIP
+16 more
Copy number gain
not specified
GUncertain significance
ABTB2, APIP
+26 more
Copy number gain
not specified
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ABTB2, ANO3
+55 more
Copy number loss
not provided
GPathogenic
ABTB2, APIP
+16 more
Copy number gain
not provided
GUncertain significance
CD44, COMMD9
+10 more
Copy number loss
See cases
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABTB2, ANO3
+48 more
Copy number loss
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
ABTB2, APIP
+50 more
Copy number loss
See cases
GPathogenic
ABTB2, APIP
+41 more
Copy number loss
See cases
GPathogenic
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