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Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
ANKRD44, ANKRD44-AS1
+118 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
CCDC150
(D2V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(P14L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(V15I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(V15A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(G60C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(P79S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(C86Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(N96K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(E124K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(E124G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(D172G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(V178G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(A183S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(T184A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(I197V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(T204I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(T204S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(K253Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(R266H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC150
(K281Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC150
(K283E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(I288L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(K294T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(K9E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(C26G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(M27V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(I371V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(Q408R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(L417P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(A419E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(H428R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(A443T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(A122P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(N150T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(T183I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(M195L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(E199Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150, LOC100130452
(Y521C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150, LOC100130452
(Q242K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150, LOC100130452
(Q244R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150, LOC100130452
(S582T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150, LOC100130452
(N547S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150, LOC100130452
(R589C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150, LOC100130452
(L620V)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
CCDC150
(R288C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(E349D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R118Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(Q273R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(D731V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R335W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R256Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(K796E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(D505N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(F509L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(R810W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(A820V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC150
(Q866K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(K357R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(Y360H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC150
(N600H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R912L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R971Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(N972S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R405W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(R414W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(C428Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(M1072T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(Q1075R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(N1027S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC150
(P1032T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
ANKRD44, C2orf66
+4 more
Copy number gain
not provided
GUncertain significance
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ANKAR, ANKRD44
+48 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
ANKRD44, BOLL
+16 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
PGAP1, PLCL1
+20 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+34 more
Copy number gain
not provided
GLikely pathogenic
OSGEPL1, STAT4
+38 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ANKRD44, BOLL
+17 more
Copy number loss
not provided
GPathogenic
CCDC150, HECW2
Copy number gain
not provided
GUncertain significance
CCDC150, HECW2
Copy number gain
not provided
GUncertain significance
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