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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
CDC123, DHTKD1
+32 more
Copy number gain
See cases
GUncertain significance
DHTKD1, ECHDC3
+27 more
Copy number loss
See cases
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UPF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UPF2
(H1198Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(M1190I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(G1130S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UPF2
(M1121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(P1106T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UPF2
(N1075I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(L1013I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(V1000L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(I970V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(T963I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(R951H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GBenign
UPF2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UPF2
(N865Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UPF2
(H844Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(A832S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GBenign
UPF2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UPF2
(A742V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(intron variant)
not provided
GBenign
UPF2
(N682K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(N682D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(T674fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
UPF2
(R653W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(V652I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(V636I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(I610V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(F591I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UPF2
(D555E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(E521Q)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
UPF2
(D516E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UPF2
(S514G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(N509K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(N509S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(S495C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(S495P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UPF2
(I458M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(D453G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(T433I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(Q398R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UPF2
(R383H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(R383C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(L336M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(I274V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(T260I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(L225V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(A212T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UPF2
(K169R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(R163C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UPF2
(E116A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(R111C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(E101G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(E90K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
UPF2
(E71G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(D63Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(D62N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(E48G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UPF2
(D40N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(V31L)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
Gassociation
UPF2
(T30I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(R29W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(S26G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(S16P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UPF2
(R5H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2, AKR1C1
+35 more
Copy number gain
See cases
GUncertain significance
DHTKD1, UPF2
Copy number gain
not specified
GUncertain significance
CELF2, ECHDC3
+3 more
Copy number loss
not specified
GUncertain significance
BEND7, CAMK1D
+15 more
Copy number gain
not provided
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
CDC123, CELF2
+47 more
Copy number gain
not provided
GUncertain significance
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ACBD7, BEND7
+36 more
Copy number loss
Neurodevelopmental delay
GPathogenic
UPF2, DHTKD1
Copy number loss
not provided
GUncertain significance
ACBD7, ADARB2
+68 more
Copy number gain
not provided
GPathogenic
WDR37, ZMYND11
+68 more
Copy number gain
not provided
GPathogenic
CDC123, DHTKD1
+6 more
Copy number loss
not provided
GUncertain significance
ITIH2, ITIH5
+72 more
Deletion
Hypoparathyroidism, deafness, renal disease syndrome
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+47 more
Copy number loss
See cases
GPathogenic
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