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Items: 1 to 100 of 1459

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066240, LOC130066241
+553 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+355 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
ADRM1, ARFGAP1
+198 more
Duplication
not specified
GUncertain significance
ARFGAP1, ARFRP1
+183 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+249 more
Copy number loss
See cases
GPathogenic
OGFR-AS1, OPRL1
+248 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+244 more
Copy number loss
See cases
GPathogenic
ARFGAP1, ARFRP1
+165 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
COL9A3
Single nucleotide variant
not provided
GLikely benign
COL9A3
(A2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(A2D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL9A3
(P4fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL9A3
(G3R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(P4A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(P4L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(R5S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(R5C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(A6V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(C7S)
Single nucleotide variant
(missense variant)
COL9A3-related disorder
+1 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(A8T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(A8V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(P9S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL9A3
(P9R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
COL9A3
Microsatellite
(inframe_insertion)
COL9A3-related disorder
+1 more
GUncertain significance
COL9A3
(P9L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
COL9A3
(L10V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Duplication
(inframe_insertion)
not provided
GUncertain significance
COL9A3
(L13P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
COL9A3
(L14V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(L16F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(G17R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(G17E)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(L20M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(A21E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL9A3
(A25T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(A25E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(Q26K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(Q26P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Deletion
(intron variant)
not provided
GBenign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
COL9A3-related disorder
+1 more
GBenign/Likely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
COL9A3
(R27T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(V28L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(V28M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(G29R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(G29V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL9A3
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
COL9A3
Deletion
(inframe_deletion)
not provided
GUncertain significance
COL9A3
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
COL9A3
(P31S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
Epiphyseal dysplasia, multiple, 3
+2 more
GBenign
COL9A3
(G35fs)
Duplication
(frameshift variant)
not provided
GPathogenic
COL9A3
(G32D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(P33A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(P33T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(P33S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COL9A3
(P33H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(P34R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL9A3
(P36fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
COL9A3
(G35S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL9A3
(G35D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL9A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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