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Items: 1 to 100 of 1472

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT5, ANGPT2
+380 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC129999827, LOC129999828
+393 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+448 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC123987611, LOC123987612
+393 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
LOC129999940, LOC129999941
+687 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+273 more
Copy number loss
See cases
GPathogenic
LOC101929290, LOC102723313
+471 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+259 more
Copy number loss
See cases
GPathogenic
DEFB103B, DEFB104A
+256 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC129999906, LOC129999907
+258 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+260 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+255 more
Copy number loss
See cases
GPathogenic
LOC129999824, LOC129999825
+255 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+232 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+241 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+217 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+205 more
Copy number loss
See cases
GPathogenic
LOC129999867, LOC129999868
+198 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+199 more
Copy number gain
See cases
GLikely pathogenic
FAM85B, FAM86B1
+205 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+208 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+196 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+196 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+195 more
Copy number loss
See cases
GPathogenic
C8orf74, CLDN23
+124 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+193 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+207 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+189 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+206 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+201 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+189 more
Copy number loss
See cases
GPathogenic
PPP1R3B, PPP1R3B-DT
+205 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+188 more
Copy number gain
See cases
GPathogenic
LOC129999836, LOC129999837
+187 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+187 more
Copy number gain
See cases
GPathogenic
MTMR9, NEIL2
+160 more
Copy number loss
See cases
GPathogenic
C8orf74, CRE3
+67 more
Copy number gain
See cases
GPathogenic
C8orf74, CRE3
+34 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+86 more
Copy number loss
See cases
GPathogenic
LOC129999854, LOC129999855
+122 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+72 more
Copy number gain
See cases
GUncertain significance
C8orf74, CRE3
+18 more
Copy number gain
See cases
GUncertain significance
BLK, C8orf74
+116 more
Copy number gain
See cases
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Deletion
(3 prime UTR variant)
Occult macular dystrophy
GBenign
RP1L1
Single nucleotide variant
(3 prime UTR variant)
Retinal dystrophy
GUncertain significance
RP1L1
Single nucleotide variant
(stop lost)
Retinal dystrophy
GUncertain significance
RP1L1
(D2397E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RP1L1
(D2396E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(V2387M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(T2384N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
Single nucleotide variant
(synonymous variant)
Occult macular dystrophy
GUncertain significance
RP1L1
(A2382T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
Single nucleotide variant
(synonymous variant)
Occult macular dystrophy
+1 more
GBenign/Likely benign
RP1L1
(S2380R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(L2378F)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RP1L1
(Q2376E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(Q2373*)
Single nucleotide variant
(nonsense)
Occult macular dystrophy
GUncertain significance
RP1L1
(A2366V)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
GLikely benign
RP1L1
(R2360K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(S2359A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(P2356L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RP1L1
(E2354D)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
GUncertain significance
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