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Items: 1 to 100 of 1126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+350 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+349 more
Copy number gain
See cases
GPathogenic
SPDYE12, SPDYE13
+330 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+317 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+285 more
Copy number gain
See cases
GLikely pathogenic
ABHD11, ABHD11-AS1
+162 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+147 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+141 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+140 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+148 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+148 more
Copy number gain
See cases
GUncertain significance
ABHD11, ABHD11-AS1
+133 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+132 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+134 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+134 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+133 more
Copy number loss
See cases
GPathogenic
LOC129998592, LOC129998593
+133 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+132 more
Deletion
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+130 more
Copy number loss
See cases
GPathogenic
LOC129998592, LOC129998593
+129 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+133 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+132 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number gain
See cases
GPathogenic
DNAJC30, EIF4H
+129 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+130 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+132 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number gain
See cases
GPathogenic
EIF4H, ELN
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Deletion
Williams syndrome
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+128 more
Copy number gain
See cases
GPathogenic
LOC129998612, LOC129998613
+128 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+128 more
Duplication
Schizophrenia
GPathogenic
ABHD11, ABHD11-AS1
+128 more
Duplication
Autism
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number loss
See cases
GPathogenic
EIF4H, ELN
+127 more
Copy number gain
See cases
GPathogenic
LOC129998611, LOC129998612
+131 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number gain
See cases
GPathogenic
LOC129998621, LOC129998622
+134 more
Copy number gain
See cases
GPathogenic
LOC129998696, LOC129998697
+219 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+130 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+127 more
Copy number gain
See cases
GPathogenic
CLDN3, CLDN4
+22 more
Copy number gain
See cases
GUncertain significance
CLDN3, CLDN4
+22 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+249 more
Copy number loss
See cases
GPathogenic
ELN
Single nucleotide variant
Supravalvar aortic stenosis
+3 more
GUncertain significance
ELN
Single nucleotide variant
Supravalvar aortic stenosis
+1 more
GBenign
ELN
Single nucleotide variant
not specified
GLikely benign
ELN
(M1V)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
GPathogenic
ELN
(M1T)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+1 more
GPathogenic/Likely pathogenic
ELN
(A2V)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(G3fs)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GLikely benign
ELN
(G3D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ELN
(T5R)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
ELN-related disorder
+1 more
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
ELN-related disorder
+1 more
GConflicting classifications of pathogenicity
ELN
(A7V)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+2 more
GUncertain significance
ELN
(P9L)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
ELN-related disorder
GLikely benign
ELN
(R10W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(G12R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ELN
(G12V)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
(L15fs)
Duplication
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(L18P)
Single nucleotide variant
(missense variant)
ELN-related disorder
GUncertain significance
ELN
(L18R)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
(I20fs)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(L21F)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
GUncertain significance
ELN
(S24fs)
Duplication
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(S24fs)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
(R25Q)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
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