U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 247

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998564, LOC129998565
+351 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+350 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 gain
7q11.23 microduplication 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
+130 more
Deletion
Williams syndrome
GLikely pathogenic
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, ELN-AS1
+7 more
Copy number gain
See cases
GLikely benign
LOC129998616, ELN
+7 more
Copy number gain
See cases
GPathogenic
CLIP2, EIF4H
+71 more
Copy number loss
See cases
GPathogenic
CASTOR2, CLIP2
+74 more
Copy number gain
See cases
GLikely benign
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LIMK1
(V24M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LIMK1
(D34H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
(A43T)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
(E65G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
(K66T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LIMK1
(A78T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
(Y46H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
(V62I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIMK1
Single nucleotide variant
(intron variant)
not provided
GBenign
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
(K131R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
(P111A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
(P185Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
(G156A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LIMK1
(V165I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMK1
(G203R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIMK1
Single nucleotide variant
(intron variant)
not provided
GBenign
LIMK1
Single nucleotide variant
(intron variant)
not provided
GBenign
LIMK1
(G173D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination