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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996327, RNF8
(W29C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RNF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RNF8
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126859666, RNF8
(R91H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(I132V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(L136V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(S157N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(T198I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(N202S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(G217R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(N281D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(L299V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859666, RNF8
(Q303R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNF8
(M351V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNF8
(S357R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNF8
(I404T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNF8
(R441W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RNF8
(R441Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RNF8
(D443V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
BTBD9, CCDC167
+6 more
Copy number gain
not specified
GUncertain significance
BNIP5, APOBEC2
+67 more
Copy number loss
not provided
GPathogenic
ANKS1A, ARMC12
+49 more
Copy number loss
Severe intrauterine growth retardation
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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