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 164

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
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
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
RGS19, RTEL1
+181 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number gain
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number loss
See cases
GLikely pathogenic
ABHD16B, ARFRP1
+156 more
Copy number gain
See cases
GUncertain significance
ABHD16B, C20orf181
+63 more
Copy number gain
See cases
GUncertain significance
C20orf204, LKAAEAR1
+31 more
Copy number loss
See cases
GPathogenic
SOX18
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SOX18
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SOX18
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SOX18
(A375G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(A372V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(L369V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(A350T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SOX18
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SOX18
(A348V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(H346L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(Y345C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
Hypotrichosis-lymphedema-telangiectasia syndrome
+2 more
GLikely benign
SOX18
(R337Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(L331F)
Single nucleotide variant
(missense variant)
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
GLikely benign
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(L324I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(V322L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(D321N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(W319R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(D317E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(P314T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(P314S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(P304Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
SOX18-related disorder
GLikely benign
SOX18
Deletion
(inframe_deletion)
not provided
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
Single nucleotide variant
(synonymous variant)
SOX18-related disorder
GLikely benign
SOX18
(T286I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(G285S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(G285R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(R271K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SOX18
(L266R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(R256W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX18
(R256W)
Indel
(missense variant)
not provided
GUncertain significance
SOX18
(A250T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(C240*)
Single nucleotide variant
(nonsense)
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
GPathogenic
SOX18
(E238*)
Single nucleotide variant
(nonsense)
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
GPathogenic
SOX18
(P237T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(A235T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(P234S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(A228T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(G222R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOX18
(G211E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(F207I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(P202R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(P201S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOX18
(E185Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
SOX18
(P183L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOX18
(Q181E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(P179L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(L177*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SOX18
(L174P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(E169*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SOX18
(A162fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SOX18
(Q161*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SOX18
(K159N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX18
(E137K)
Single nucleotide variant
(missense variant)
SOX18-related disorder
+1 more
GBenign/Likely benign
SOX18
(K131R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(G120D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SOX18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SOX18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SOX18
(M118I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(K117N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX18
(A104P)
Single nucleotide variant
(missense variant)
Hypotrichosis-lymphedema-telangiectasia syndrome
GPathogenic
SOX18
(W95R)
Single nucleotide variant
(missense variant)
Hypotrichosis-lymphedema-telangiectasia syndrome
GPathogenic
SOX18
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SOX18
(A80V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(A80P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(Q78L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX18
(G75A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
Format
Items per page
Sort by
Choose Destination