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Links from Gene

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND2D, LOC126805826
(S412F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC126805826
(Y390H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(D208N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(K131R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC126805826
(R393W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(T76I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC129931164
(R8W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND2D, LOC129931164
(R15H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DENND2D, LOC129931164
(F10C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND2D
(R95Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(R79W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(L55P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC126805826
(S438T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC126805826
(A398E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
CD53, CEPT1
+4 more
Copy number loss
not specified
GUncertain significance
ADORA3, AHCYL1
+77 more
Copy number loss
not provided
GPathogenic
ADORA3, AHCYL1
+54 more
Copy number loss
not provided
GPathogenic
DENND2D, LOC129931164
(R11K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND2D, LOC126805826
(R404I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(R84Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC126805826
(E370K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(R140C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(K363R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(Q26P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(R149C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(L355F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADORA3, AP4B1
+34 more
Deletion
not provided
GPathogenic
DENND2D
(R95W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(E88Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(R87W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(E72K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(G142V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(Q78K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(P25A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(T266A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D, LOC126805826
(R407G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(A248V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(R63H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DENND2D, LOC126805826
(A391V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENND2D
(C235R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NHLH2, NOTCH2
+78 more
Copy number gain
not specified
GPathogenic
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
CEPT1, DENND2D
+2 more
Duplication
not provided
GUncertain significance
ADORA3, ATP5PB
+19 more
Copy number loss
not provided
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
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