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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD17
Duplication
(inframe insertion +1 more)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(H1114R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
Deletion
(inframe_deletion)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(N115T)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(V530I +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(R1461H +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(A591S +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(R1230fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GPathogenic
ANKRD17
(G859E +1 more)
Single nucleotide variant
(missense variant +1 more)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(A508T +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(G517fs +1 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(K751fs +1 more)
Deletion
(frameshift variant +1 more)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(M2232fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(A572T +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(N2349S +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(Q68P)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(P1989R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(G1803R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(T2326P +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
+1 more
GUncertain significance
ANKRD17
(P645S +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
Single nucleotide variant
(splice donor variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(D1274G +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(G1012A +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(W1107* +3 more)
Single nucleotide variant
(nonsense)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(P1105S +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(L668R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(R2183G +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(P1073R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(L603R +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(G165V +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
+1 more
GConflicting classifications of pathogenicity
ANKRD17
(S1629P +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(L406P +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(L1007R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(E1359* +3 more)
Single nucleotide variant
(nonsense)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(H2234P +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(P357S +1 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
Gnot provided
ANKRD17
(Q1536fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GPathogenic
ANKRD17
(Q1197fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GPathogenic
ANKRD17
(G1113A +2 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
Single nucleotide variant
(splice acceptor variant)
Chopra-Amiel-Gordon syndrome
GPathogenic
ANKRD17
(N1000fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GPathogenic
ANKRD17
(A1669fs +3 more)
Duplication
(frameshift variant)
Intellectual disability
GLikely pathogenic
ANKRD17
(E762* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
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