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Items: 1 to 100 of 400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5L, LINC00111
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1160 more
Copy number gain
See cases
GPathogenic
KRTAP8-1, LCA5L
+1160 more
Copy number gain
See cases
GPathogenic
RNA5-8SN1, RNA5-8SN2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066804, LOC130066805
+1160 more
Copy number gain
See cases
GUncertain significance
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
SCAF4, SETD4
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1159 more
Copy number gain
See cases
GPathogenic
LOC129388418, LOC129391214
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LINC00515, LINC00649
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066731, LOC130066732
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
ETS2-AS1, EVA1C
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066726, LOC130066727
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
SLC5A3, SLX9
+1159 more
Copy number gain
See cases
GPathogenic
LINC01425, LINC01426
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066861, LOC130066862
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066468, LOC130066469
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066795, LOC130066796
+1156 more
Copy number loss
See cases
GPathogenic
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+516 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+482 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+429 more
Copy number loss
See cases
GPathogenic
BNAT1, C21orf58
+416 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+376 more
Copy number loss
See cases
GPathogenic
LOC130066735, LOC130066736
+340 more
Copy number loss
See cases
GPathogenic
LOC130066806, LOC130066807
+334 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+276 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+268 more
Copy number loss
See cases
GPathogenic
KRTAP10-12, KRTAP10-2
+245 more
Duplication
Autism
GLikely pathogenic
ADARB1, BNAT1
+89 more
Copy number loss
See cases
GPathogenic
ADARB1, BNAT1
+89 more
Copy number loss
See cases
GPathogenic
C21orf58, COL6A1
+52 more
Copy number loss
See cases
GPathogenic
C21orf58, COL6A1
+44 more
Copy number gain
See cases
GLikely benign
C21orf58, COL6A1
+50 more
Copy number loss
See cases
GUncertain significance
LSS
Deletion
(3 prime UTR variant +1 more)
not provided
GBenign
LSS
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
LSS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSS
(H651Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
(P644R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
(Y643S +2 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 14
GUncertain significance
LSS
(G637fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
LSS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSS
(W634L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
(S626T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
(T705K +2 more)
Single nucleotide variant
(missense variant)
Alopecia-intellectual disability syndrome 4
GPathogenic
LSS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
(Q689P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
(P677L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LSS
(N604S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LSS
(L602F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSS
(H584Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
Single nucleotide variant
(intron variant)
LSS-related disorder
GLikely benign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
LSS
Single nucleotide variant
(synonymous variant)
LSS-related disorder
GLikely benign
LSS
(T572I +2 more)
Single nucleotide variant
(missense variant)
Alopecia-intellectual disability syndrome 4
GPathogenic
LSS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LSS
(I649M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSS
(Q568L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSS
(Q568* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LSS
(L631V +2 more)
Single nucleotide variant
(missense variant)
Alopecia-intellectual disability syndrome 4
+2 more
GBenign
LSS
(F553S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSS
(D552G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
(W629C +2 more)
Single nucleotide variant
(missense variant)
Cataract 44
GPathogenic
LSS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSS
(R542Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LSS
(R534W +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LSS
(A528T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
Single nucleotide variant
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
Microsatellite
(intron variant)
not provided
GBenign
LSS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSS
(R524* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LSS
(C598Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LSS
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
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