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Items: 1 to 100 of 152

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
LOC132088858, LOC132088860
+248 more
Copy number gain
See cases
GPathogenic
ABHD10, ATG3
+186 more
Copy number loss
See cases
GPathogenic
CD96
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD96
(K4N)
Single nucleotide variant
(missense variant +1 more)
C syndrome
GPathogenic
CD96
(I16V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(V19fs)
Duplication
(frameshift variant +1 more)
C syndrome
+1 more
GConflicting classifications of pathogenicity
CD96
Single nucleotide variant
(intron variant)
not provided
GBenign
CD96
(T29R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(N32S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(T44I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
(V61I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(L67M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(E93V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(C110Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CD96
(E117Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(L120P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(G126D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(T138I)
Indel
(missense variant +1 more)
not provided
GUncertain significance
CD96
Single nucleotide variant
(intron variant)
CD96-related disorder
GLikely benign
CD96
(T141K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(T141R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(A142P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CD96
(T150K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(T150M)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CD96
(I151T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(P162S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(S167T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(S169P)
Single nucleotide variant
(missense variant +1 more)
C syndrome
GUncertain significance
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
(G195D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
Deletion
(splice donor variant +1 more)
C syndrome
GUncertain significance
CD96
(S192C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(Q209P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CD96
(Q209H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(L212F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CD96
(D221G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(D224N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CD96
(R243Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CD96
(K228Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(S230F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(G236S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(I256fs +1 more)
Duplication
(frameshift variant +1 more)
C syndrome
GUncertain significance
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
(K248R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(V265F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
Indel
(nonsense +1 more)
not specified
GUncertain significance
CD96
(P272S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(V257L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(T280M +1 more)
Single nucleotide variant
(missense variant +1 more)
C syndrome
GPathogenic
CD96
(D265G +1 more)
Single nucleotide variant
(missense variant +1 more)
C syndrome
GUncertain significance
CD96
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CD96, ZBED2
(A197V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(E171D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(R170L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(L161I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(N138Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(G137S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(G128R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(R121H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(R121G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(A118D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(H70R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(R53W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(M42L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(M42V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(P37R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(G32R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96, ZBED2
(M14T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
Deletion
(splice acceptor variant)
not provided
GUncertain significance
CD96
(R287G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
(A283G +1 more)
Single nucleotide variant
(missense variant +1 more)
CD96-related disorder
GUncertain significance
CD96
(G300R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD96
(D312fs +1 more)
Deletion
(frameshift variant +1 more)
C syndrome
GUncertain significance
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CD96
(P346S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CD96
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CD96
(G363V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(E365K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
(T376A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(L380F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(P384L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD96
(S405N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CD96
Single nucleotide variant
(3 prime UTR variant +1 more)
CD96-related disorder
GLikely benign
CD96
Single nucleotide variant
(intron variant)
C syndrome
GUncertain significance
CD96
Single nucleotide variant
(splice acceptor variant)
not provided
GBenign
CD96
(V422L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD96
(Q432L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
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