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Links from Gene

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPOCK1
(V420M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(Q77E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(A12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(P283T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(L24P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(R223G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(F163L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(Q143R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
Copy number gain
not specified
GUncertain significance
SPOCK1
Single nucleotide variant
(synonymous variant)
SPOCK1-related disorder
GLikely benign
SPOCK1
(R110S)
Single nucleotide variant
(missense variant)
SPOCK1-related disorder
GLikely benign
SPOCK1
Single nucleotide variant
(synonymous variant)
SPOCK1-related disorder
GLikely benign
SPOCK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPOCK1
(N37D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(I241V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(K170E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(R204W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(V141M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(E278K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(S131W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(L262V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(L133W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(W213L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(P138H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(P140L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(G36R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(N68K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(A173T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPOCK1
(P189A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(S131L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(G36D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(D289E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(M252V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(R414T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(L175I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPOCK1
(R110C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL3, SPOCK1
Copy number loss
not provided
GUncertain significance
AFF4, BRD8
+53 more
Copy number loss
not specified
GPathogenic
BRD8, CDC23
+13 more
Copy number loss
Neurodevelopmental delay
+1 more
GPathogenic
ANKHD1, ANKHD1-EIF4EBP3
+116 more
Duplication
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GUncertain significance
SPOCK1
Copy number loss
not provided
GUncertain significance
SPOCK1
(A105T)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
KLHL3, SPOCK1
Copy number gain
not provided
GUncertain significance
SPOCK1
Copy number loss
not provided
GUncertain significance
SPOCK1
Duplication
Internal malformations
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
HARS1, HARS2
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
SPOCK1
(N37S)
Single nucleotide variant
(missense variant)
not specified
GBenign
SPOCK1
Copy number gain
See cases
GLikely benign
SPOCK1
Copy number gain
See cases
GUncertain significance
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
LOC105379192, LOC126807522
+3 more
Copy number loss
See cases
GUncertain significance
BRD8, CDC23
+236 more
Copy number gain
See cases
GPathogenic
SPOCK1
(D80V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
CTB-1I21.1, IL9
+32 more
Copy number loss
See cases
GPathogenic
BRD8, C5orf15
+230 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
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