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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BICRA
(V409L)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(P653Q)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(G1317fs)
Duplication
(frameshift variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(Q407fs)
Insertion
(frameshift variant)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(Y1100*)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(N112D)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(A313P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BICRA
(V810M)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA, EHD2
Copy number loss
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
(A1555fs)
Duplication
(frameshift variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(P912fs)
Microsatellite
(frameshift variant)
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
(L214fs)
Deletion
(frameshift variant)
Coffin-Siris syndrome 12
GPathogenic
CCDC9, DACT3
+25 more
Copy number gain
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
(Q645*)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
Single nucleotide variant
(synonymous variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(P1418L)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(T925I)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(P1226S)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(P49S)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(N408K)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
+1 more
GUncertain significance
BICRA
(H504fs)
Insertion
(frameshift variant)
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
(Q641*)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(S538R)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(R812C)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(G330fs)
Duplication
(frameshift variant)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(H790Q)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GUncertain significance
BICRA
(R802C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BICRA
(P1449fs)
Duplication
(frameshift variant)
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA, LOC121627883
(R1177*)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
(S1522L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BICRA
Single nucleotide variant
(splice donor variant)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(P172L)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
+2 more
GUncertain significance
BICRA
(F129fs)
Deletion
(frameshift variant)
Coffin-Siris syndrome 12
GLikely pathogenic
BICRA
(E64D)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(A827fs)
Indel
(frameshift variant)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(Q665*)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 12
GPathogenic
BICRA
(A313fs)
Deletion
(frameshift variant)
BICRA-related condition
GUncertain significance
BICRA
(C1083fs)
Duplication
(frameshift variant)
Intellectual disability
+1 more
GPathogenic
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