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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC112935964, LOC112935965
+171 more
Copy number gain
See cases
GLikely pathogenic
ABHD10, ABI3BP
+431 more
Copy number loss
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ABHD10, ABI3BP
+398 more
Copy number loss
See cases
GPathogenic
ABI3BP, IMPG2
+3 more
Copy number loss
See cases
GUncertain significance
SENP7
(E969D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(R1030W +4 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita
GUncertain significance
SENP7
(I862M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(R958C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(Q920R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(S781C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(S776F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(M759I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(S842L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(R740H +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SENP7
(R740C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(T832I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(Q881R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(N683S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(I789T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(Y620H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(T677A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(H675L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(C559R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(T641I +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SENP7
(Q636K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(V525I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(C519Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SENP7
(L655F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(D571Y +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SENP7
(R564G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(H515L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(I458M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(M427R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(Q427R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(Q328* +4 more)
Single nucleotide variant
(nonsense)
arthrogryposis multiplex congenita with neutropenia and early respiratory failure
GLikely pathogenic
SENP7
(Q300P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(I255T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(D412N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(I369T +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SENP7
(P309S +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SENP7
(E264D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(E160G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(N144S +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SENP7
(N203D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(R151Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SENP7
(T176S +5 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SENP7
(Q241H +5 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SENP7
(S165G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(N181T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(S142G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(D128E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(I100T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(S122R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(R120H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SENP7
(C113R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(T105K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(S104L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SENP7
(T69M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
Single nucleotide variant
(intron variant)
not provided
GBenign
SENP7
(P60S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(I82T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(E31D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(K17T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SENP7
(L28F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SENP7
(L28S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABI3BP, ADGRG7
+16 more
Deletion
not provided
GUncertain significance
ABI3BP, ADGRG7
+41 more
Copy number gain
not specified
GUncertain significance
ABI3BP, ADGRG7
+11 more
Copy number loss
not specified
GUncertain significance
IMPG2, SENP7
Copy number gain
not provided
GUncertain significance
CEP97, NFKBIZ
+6 more
Copy number gain
not specified
GUncertain significance
IMPG2, SENP7
+1 more
Duplication
not provided
GUncertain significance
CEP97, IMPG2
+5 more
Deletion
not provided
GPathogenic
OR5AC2, GPR15
+39 more
Copy number loss
not provided
GLikely pathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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