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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
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
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129389108, LOC129389109
+89 more
Copy number loss
See cases
GPathogenic
LOC132088858, LOC132088860
+248 more
Copy number gain
See cases
GPathogenic
BBX, C3orf85
+61 more
Copy number loss
See cases
GPathogenic
ABHD10, ATG3
+186 more
Copy number loss
See cases
GPathogenic
HHLA2
(L11V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(L26F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHLA2
(V39I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
HHLA2
(R91M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHLA2
(V161A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(S163G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(P102L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(M184I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(G124R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(N196D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(G139E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(I212T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(N214I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(R224C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(T162M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(K233E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(M170I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(V175I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(S265C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(Y273N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(E285G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(R287Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(Q297R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(D242G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(L297M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(V365I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(G330V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(R332C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHLA2
(G404D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BBX, CCDC54
+10 more
Copy number loss
not provided
GUncertain significance
ABHD10, ATG3
+49 more
Copy number loss
not provided
GPathogenic
ABHD10, ATG3
+51 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ABHD10, ALCAM
+29 more
Copy number loss
not provided
GPathogenic
CIP2A, DZIP3
+3 more
Copy number gain
not provided
GUncertain significance
HHLA2, MYH15
+2 more
Copy number gain
not provided
GUncertain significance
MYH15, CD47
+2 more
Copy number loss
not provided
GUncertain significance
MORC1-AS1, DZIP3
+13 more
Copy number loss
not provided
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD10, ALCAM
+53 more
Copy number loss
See cases
GPathogenic
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