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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
RSBN1
(T799A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(Q772E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(Q751H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(T714R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(K702R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(A691V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(H582R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RSBN1
(C466S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(E449G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(E387K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(M386V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(F356L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(Q341R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(N305K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(T301A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(C282F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(V281I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(E277D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(L271F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(M266V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(H213P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(S205I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(K186N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(K184N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(P163L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(L162V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(P156R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(P156S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(A154T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(P132L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(V44M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(C43R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(G35V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(R26Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(K11N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RSBN1
(S4Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L15, DCLRE1B
+8 more
Copy number gain
not provided
GUncertain significance
ADORA3, AHCYL1
+77 more
Copy number loss
not provided
GPathogenic
AMPD1, AP4B1
+28 more
Deletion
Hereditary spastic paraplegia 47
GPathogenic
ADORA3, AP4B1
+34 more
Deletion
not provided
GPathogenic
AMPD1, AP4B1
+23 more
Duplication
RASopathy
GUncertain significance
NHLH2, NOTCH2
+78 more
Copy number gain
not specified
GPathogenic
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
VANGL1, TSHB
+20 more
Copy number loss
not provided
GLikely pathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AP4B1, BCL2L15
+8 more
Copy number gain
See cases
GUncertain significance
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