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Links from Gene

Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBE4B
(E1264A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(D730V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(V1145M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(R1066Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(R681H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(A912T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(A930V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNAJC11, DRAXIN
+76 more
Deletion
not provided
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
UBE4B
(S31F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(G264V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(M207L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(E156D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P1266A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P1286S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(D1095N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(S87T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(R726H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(T580M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(M738V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(E634A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(G600D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P595L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(S409T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(G48R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(C421R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(E419D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(L394V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(T387M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AADACL3, AADACL4
+80 more
Copy number loss
not specified
GPathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
UBE4B
(Q1075H +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
UBE4B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UBE4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UBE4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UBE4B
(R1272W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(A1272T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(A1090V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(H1098fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
UBE4B
(S358G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(R832Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(S196C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P353T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(R371W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(S311G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(Q901P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P291L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
UBE4B
(Q1103* +2 more)
Single nucleotide variant
(nonsense)
Developmental disorder
GUncertain significance
AGTRAP, ANGPTL7
+44 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ANGPTL7, C1orf127
+20 more
Deletion
Immunodeficiency 14
GUncertain significance
UBE4B
(E312G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P328L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(R298H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(K875R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(S341F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(P354A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(M212T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(V916L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(A1208T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(R1117Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(S1083C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(V72G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(M60I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(D1294E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(M212L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(K317E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(C644G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE4B
(P351S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE4B
(E193G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AADACL3, AADACL4
+143 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+159 more
Copy number loss
not provided
GPathogenic
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
GPR157, H6PD
+124 more
Copy number loss
Chromosome 1p36 deletion syndrome, proximal
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
CENPS, CENPS-CORT
+12 more
Deletion
Immunodeficiency 14
GUncertain significance
TARDBP, RBP7
+31 more
Copy number loss
not provided
GLikely pathogenic
UBE4B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBE4B
Single nucleotide variant
(intron variant)
not provided
GBenign
UBE4B
(N593S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
UBE4B
Single nucleotide variant
(intron variant)
not provided
GBenign
UBE4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UBE4B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RBP7, UBE4B
Copy number loss
not provided
GUncertain significance
ACAP3, ACOT7
+148 more
Copy number loss
See cases
GPathogenic
KIF1B, CLSTN1
+6 more
Copy number gain
not provided
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+97 more
Copy number loss
See cases
GLikely pathogenic
AADACL3, AADACL4
+96 more
Copy number loss
See cases
GPathogenic
CCNL2, CDK11A
+188 more
Copy number loss
See cases
GPathogenic
AGTRAP, DISP3
+56 more
Copy number gain
See cases
GLikely pathogenic
ACAP3, ACOT7
+162 more
Copy number loss
See cases
GPathogenic
RER1, RERE
+212 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
CLSTN1, CTNNBIP1
+69 more
Copy number gain
See cases
GUncertain significance
AADACL3, AADACL4
+370 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
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