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Links from Gene

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRPEL2, GRPEL2-AS1
(R82K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRPEL2, GRPEL2-AS1
(R45H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
GRPEL2, GRPEL2-AS1
(S108R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRPEL2, GRPEL2-AS1
(P29L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
GRPEL2
(R15H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM3, ADRB2
+23 more
Deletion
not provided
GUncertain significance
GRPEL2
(W23R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRPEL2, GRPEL2-AS1
(P55A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
GRPEL2, GRPEL2-AS1
(V67I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GRPEL2, GRPEL2-AS1
(R91K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRPEL2, GRPEL2-AS1
(A61T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
GRPEL2
(A8V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM3, ADRB2
+23 more
Copy number loss
not provided
GPathogenic
ABLIM3, ADRB2
+92 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
CCDC69, CCNH
+385 more
Deletion
Familial adenomatous polyposis 1
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ADRB2
+48 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
ABLIM3, ADRB2
+313 more
Copy number gain
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
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