U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
LOC130004269, LOC130004270
+23 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ACTA2, ACTA2-AS1
+21 more
Copy number gain
See cases
GUncertain significance
LIPJ, LOC130004283
+1 more
(E37D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
LIPJ, RNLS
(L19V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LIPJ, RNLS
(M11R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LIPJ, RNLS
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
LIPJ, RNLS
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
LIPJ, RNLS
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
LIPJ
(E15K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(G24D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(N39S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(L51W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(N68S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(S70N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(G89R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(T101M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(G143C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPJ
(S205L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LIPJ
(G211D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LIPJ
(I223V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LIPJ
(M260I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(V320I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPJ
(L274S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LIPM, LIPN
+17 more
Duplication
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
ACTA2, ANKRD1
+24 more
Copy number gain
not specified
GUncertain significance
ACTA2, ADIRF
+46 more
Copy number loss
not specified
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ATAD1, KLLN
+6 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
ACTA2, ANKRD1
+46 more
Copy number loss
not provided
GPathogenic
ACTA2, ADIRF
+56 more
Copy number loss
not provided
GPathogenic
ACTA2, ADIRF
+50 more
Copy number loss
See cases
GPathogenic
ACTA2, ANKRD22
+9 more
Copy number gain
not provided
GUncertain significance
ACTA2, ADIRF
+34 more
Copy number loss
not provided
GPathogenic
ATAD1, KLLN
+8 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
LIPF, ACTA2
+9 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
ACTA2, ADAMTS14
+168 more
Copy number gain
not provided
GPathogenic
ACTA2, ADIRF
+55 more
Copy number loss
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
Format
Items per page
Sort by
Choose Destination