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Items: 1 to 100 of 489

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ACSL6, ACSL6-AS1
+263 more
Copy number loss
See cases
GPathogenic
AFF4, AFF4-DT
+147 more
Copy number loss
See cases
GPathogenic
AFF4
Single nucleotide variant
(3 prime UTR variant)
AFF4-related disorder
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
(A1159T)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(R1156C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+1 more
GLikely benign
AFF4
(T1142I)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
not provided
GBenign
AFF4
Single nucleotide variant
(intron variant)
not provided
GBenign
AFF4
Single nucleotide variant
(intron variant)
not provided
GBenign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(Q1120E)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(K1118R)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(Q1115E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
AFF4-related disorder
+1 more
GBenign/Likely benign
AFF4
(T1107I)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(T1107A)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+2 more
GBenign/Likely benign
AFF4
Single nucleotide variant
(synonymous variant)
AFF4-related disorder
+2 more
GLikely benign
AFF4
(F1103I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFF4
(V1097I)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(M1092V)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
AFF4-related disorder
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+1 more
GLikely benign
AFF4
(P1086A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFF4
(S1081C)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(S1077F)
Single nucleotide variant
(missense variant)
AFF4-related disorder
GUncertain significance
AFF4
(A1073V)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
(V1057A)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(P1056A)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AFF4
Single nucleotide variant
(intron variant)
not provided
GBenign
AFF4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AFF4
Single nucleotide variant
(synonymous variant)
AFF4-related disorder
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
(S1043L)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(S1039F)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(N1038del)
Microsatellite
(inframe_deletion)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
AFF4-related disorder
GLikely benign
AFF4
(Y1036F)
Single nucleotide variant
(missense variant)
AFF4-related disorder
GUncertain significance
AFF4
(S1035Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFF4
Microsatellite
(intron variant)
not provided
GBenign
AFF4
Microsatellite
(intron variant)
not provided
GBenign
AFF4
Microsatellite
(intron variant)
not provided
GBenign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(splice donor variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+1 more
GLikely benign
AFF4
(K1015R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+1 more
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GBenign
AFF4
(T999A)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
AFF4
Deletion
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Duplication
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
AFF4-related disorder
GLikely benign
AFF4
(T973M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AFF4
(P966S)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GBenign/Likely benign
AFF4
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
AFF4
(D934V)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Deletion
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Deletion
(intron variant)
AFF4-related disorder
GLikely benign
AFF4
Single nucleotide variant
(splice donor variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
AFF4-related disorder
+1 more
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
(V907I)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+1 more
GUncertain significance
AFF4
(R902Q)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(R902W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AFF4
(P901L)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(A893V)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
(P890L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
AFF4
Single nucleotide variant
(synonymous variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
AFF4
(S886T)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
AFF4
(A882V)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
AFF4
(A882P)
Single nucleotide variant
(missense variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GUncertain significance
AFF4
Deletion
(splice acceptor variant)
Autism spectrum disorder
GLikely benign
AFF4
Single nucleotide variant
(intron variant)
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
GLikely benign
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