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Links from MedGen

Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASXL3
(L537fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(R1446W)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(P2023S)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(E873fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(P1805fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(S477fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(D984G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ASXL3
(K1026*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(Q527*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(A1542fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(E459fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASXL3
(I572M)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(D91G)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
Indel
(inframe_indel)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(R335W)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(S1952P)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(I590V)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(P2196A)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
Single nucleotide variant
(synonymous variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(S1497T)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(H1410Y)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(N1648K)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(E1635G)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(P1694del)
Microsatellite
(inframe_deletion)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(L2084P)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(M214T)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(K155R)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(T1422K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ASXL3
(Q1337H)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(R1176W)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(R1823L)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(F2122L)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(W12*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(I450F)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(K1171*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(E415D)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GUncertain significance
ASXL3
(L543fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(P1470fs)
Deletion
(frameshift variant)
Autism spectrum disorder
+1 more
GPathogenic/Likely pathogenic
ASXL3
Insertion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(R301fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(S461G)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GUncertain significance
ASXL3
(R1065W)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GUncertain significance
ASXL3
(K1452fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(Q664*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
ASXL3
(S1145P)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(P474fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(C1299fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(F353L)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(G1094fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(P618L)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(K1631fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(C2230fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(E415*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(G1770E)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GUncertain significance
ASXL3
(R1823*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
ASXL3
(S1269R)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(T668fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(L2112*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(W1609*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(R1615S)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+2 more
GConflicting classifications of pathogenicity
ASXL3
(Q1933R)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
Single nucleotide variant
(splice donor variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(V1489L)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(Q633L)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GUncertain significance
ASXL3
(N1352D)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GConflicting classifications of pathogenicity
ASXL3
(D721*)
Duplication
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(T556fs)
Microsatellite
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(H1252fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(Y1633*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(E468*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(S1468*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(C622fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(C423*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
Single nucleotide variant
(intron variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(G1046fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(D541N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
ASXL3
Deletion
(inframe_deletion)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GConflicting classifications of pathogenicity
ASXL3
(L934*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ASXL3
Single nucleotide variant
(intron variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GBenign
ASXL3
Deletion
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(A1118fs)
Duplication
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASXL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ASXL3
(I1346V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ASXL3
(V911M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ASXL3
(S172P)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+2 more
GBenign/Likely benign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ASXL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ASXL3
Single nucleotide variant
(synonymous variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+2 more
GBenign/Likely benign
ASXL3
(N954S)
Single nucleotide variant
(missense variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GBenign
ASXL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASXL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASXL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
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