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Items: 1 to 100 of 1122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998532, LOC129998533
+350 more
Copy number loss
See cases
GPathogenic
LOC129998632, LOC129998633
+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
LAT2, LIMK1
+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
LOC129998606, LOC129998607
+148 more
Copy number gain
See cases
GPathogenic
LOC129998600, LOC129998601
+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
LOC129998616, LOC129998617
+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
LOC129998616, LOC129998617
+130 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+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
LOC129998604, LOC129998605
+129 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
ABHD11, ABHD11-AS1
+130 more
Copy number loss
See cases
GPathogenic
LOC129998639, LOC129998640
+131 more
Copy number loss
See cases
GPathogenic
LOC129998656, LOC129998657
+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
ABHD11, ABHD11-AS1
+129 more
Copy number loss
See cases
GPathogenic
GTF2I-AS1, GTF2IRD1
+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
ABHD11, ABHD11-AS1
+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
TMEM270, VPS37D
+127 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+131 more
Copy number loss
See cases
GPathogenic
LOC108254673, LOC111413044
+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
ABHD11, ABHD11-AS1
+134 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+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
BCL7B, ABHD11
+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
Cutis laxa, autosomal dominant 1
+3 more
GUncertain significance
ELN
Single nucleotide variant
Cutis laxa, autosomal dominant
+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)
not provided
+1 more
GPathogenic
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 condition
+1 more
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
(A7V)
Single nucleotide variant
(missense variant)
not provided
+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 condition
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)
Supravalvar aortic stenosis
+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 condition
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)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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