U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 249

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG2
(S375N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(R288C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(S682R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
Deletion
Congenital disorder of glycosylation, type IIq
GPathogenic
COG2
(V29I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(T733A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(L566S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(E532K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(N459S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(D494N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Copy number loss
not provided
GUncertain significance
ACTN2, AGT
+45 more
Copy number loss
not provided
GPathogenic
ABCB10, ACTA1
+137 more
Copy number gain
not provided
GPathogenic
COG2
(M684V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(V725I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
COG2
(R199C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(L158Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(E411Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(P677S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB10, ACTA1
+15 more
Deletion
not provided
GPathogenic
AGT, ARV1
+10 more
Deletion
Congenital disorder of glycosylation, type IIq
GPathogenic
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(K125E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(N270S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COG2
(D338N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(T601I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(L416F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(V649M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(P471L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(S330L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(V649A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(A721T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(G580C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(K730R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(G189A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(V224I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
(P163R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(R232L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(S347N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2, LOC129932756
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(A160V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(S714fs +1 more)
Deletion
(frameshift variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(R138Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GBenign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(A201T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(S719L +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(E62K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COG2
(R291Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Deletion
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(Q87fs)
Deletion
(frameshift variant)
Congenital disorder of glycosylation, type IIq
GPathogenic
COG2
(M434T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(S161N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
ABCB10, ACBD3
+113 more
Copy number gain
not provided
Gnot provided
ABCB10, ACBD3
+185 more
Copy number gain
not provided
GPathogenic
COG2
Copy number loss
not provided
GUncertain significance
ABCB10, ACTA1
+65 more
Copy number gain
not provided
GLikely pathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
COG2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG2, LOC129932756
(C16*)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
ABCB10, ACTA1
+36 more
Copy number loss
not specified
GPathogenic
ABCB10, ACBD3
+55 more
Copy number loss
not specified
GLikely pathogenic
COG2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIq
GLikely benign
COG2
(L51F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(R37G)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(K378R)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(C287Y)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(R39W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ABCB10, ACTA1
+21 more
Duplication
Actin accumulation myopathy
GUncertain significance
Format
Items per page
Sort by
Choose Destination