U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+212 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+301 more
Copy number loss
See cases
GPathogenic
AMOTL2, ANAPC13
+102 more
Copy number loss
See cases
GPathogenic
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+167 more
Copy number loss
See cases
GPathogenic
AMOTL2
(T738I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(P734Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(T730I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(A713G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R703G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(A655S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R649G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(N670S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(P607L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(Q602H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(H659Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R592C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(T589A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R577H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(K553del +2 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
AMOTL2
(R551Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R551G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R547Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(L604P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(A603S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2, LOC123038187
(A520V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AMOTL2, LOC123038187
(A550V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R477C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(E473Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(A530S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R471Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R468Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(E514K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AMOTL2
(E449K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R445G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R497Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(E435K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(Q434L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(V420M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R403S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R395S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(N378T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R377Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(K432N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R369H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMOTL2
(R412Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R402H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R330W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(N386S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(V317M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(S345Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(S287T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(P284L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(G339S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AMOTL2
(R234S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R230W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(Y271C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(P267T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(P204L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R189C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(L187M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(A232V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R231Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AMOTL2
(E168K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R161Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(D130Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R183Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R183W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(A176G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(G139V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R29H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(R29C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(T28S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL2
(S8L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ANAPC13, EPHB1
+3 more
Copy number loss
See cases
GPathogenic
ACAD11, ACAD9
+61 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
EPHB1, KY
+17 more
Copy number loss
Intellectual disability, autosomal dominant 47
GLikely pathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination