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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
LOC126861050, LOC126861051
+248 more
Copy number gain
See cases
GLikely pathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
FGFR2, GRK5
+119 more
Copy number gain
See cases
GPathogenic
BAG3, INPP5F
+12 more
Copy number gain
See cases
GUncertain significance
LOC130004884, LOC130004885
+438 more
Copy number gain
See cases
GPathogenic
INPP5F, LOC130004858
(Q5R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F, LOC130004858
(L28H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F, LOC130004858
(Q29H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(P78T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(K88R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(P122L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(F134L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(T135M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V141E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(G198S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S266F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(N303K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(A356V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(A381S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(M417T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(L425P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V467M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(A473V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(N551S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(Y557H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(I568V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(A586D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(Q601P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(L603V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V640M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(A648S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INPP5F
(E85Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(K124R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(M105V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(I133V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(I112M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(K137E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(I150V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(K142N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(R801Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(P177T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(E200A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(K194R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(E222Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V229A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(Q234E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(A213P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S878P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(R900L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(R900Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S281G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S304R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(P286S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V291F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S942P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(T340I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(H329N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(N993S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
INPP5F
(N387D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
INPP5F
(S380L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V406F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(V1028F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(K428R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(L1047V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(G1052R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(H444R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S426P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(S1060L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(R1075Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(Q1115P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INPP5F
(I1132V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ABLIM1, ACSL5
+70 more
Copy number gain
not specified
GLikely pathogenic
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
BAG3, INPP5F
+3 more
Copy number gain
not provided
GUncertain significance
BAG3, DENND10
+12 more
Copy number gain
not specified
GUncertain significance
ACADSB, ARMS2
+54 more
Copy number loss
not specified
GPathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
CACUL1, PLPP4
+22 more
Copy number loss
Astigmatism
+4 more
GUncertain significance
ECHS1, EDRF1
+110 more
Copy number gain
not provided
GPathogenic
BTBD16, C10orf120
+36 more
Deletion
not provided
GLikely pathogenic
FGFR2, FOXI2
+95 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+130 more
Copy number gain
not provided
GPathogenic
BAG3, INPP5F
Copy number loss
Intellectual disability
+1 more
GLikely benign
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
ACADSB, ARMS2
+54 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+157 more
Copy number gain
not provided
GPathogenic
ABRAXAS2, ACADSB
+86 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+151 more
Copy number gain
See cases
GPathogenic
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
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