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Items: 1 to 100 of 523

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
LOC126653329, LOC130066449
+219 more
Copy number loss
Monosomy 21
GPathogenic
LOC112694734, LOC116309120
+118 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+256 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+214 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+129 more
Copy number gain
See cases
GPathogenic
C21orf91, LOC125387325
+209 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+300 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+121 more
Copy number loss
See cases
GPathogenic
LOC130066445, LOC130066446
+102 more
Copy number loss
See cases
GPathogenic
BTG3, BTG3-AS1
+76 more
Copy number loss
See cases
GPathogenic
LOC130066465, LOC130066466
+46 more
Deletion
not provided
GUncertain significance
BTG3, BTG3-AS1
+64 more
Copy number gain
See cases
GUncertain significance
TMPRSS15
(W1013*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TMPRSS15
(E1012K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(T1011I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPRSS15
(R1009G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS15
(R1006G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(G1002R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(R1000H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(R1000C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(R1000S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(A996V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPRSS15
(G987S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(L985V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(R982G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(M976I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(M976T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(G969R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TMPRSS15
(D1010E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPRSS15
(G963R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPRSS15
(I950F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TMPRSS15
(Q943R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPRSS15
(Q943*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMPRSS15
(Q942R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
Indel
(inframe_indel)
not provided
GUncertain significance
TMPRSS15
(S937fs)
Insertion
(frameshift variant)
Enterokinase deficiency
GPathogenic
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(L935F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(Q929*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMPRSS15
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Indel
(intron variant)
not provided
GUncertain significance
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GBenign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(T917M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(W915*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMPRSS15
(A913V)
Single nucleotide variant
(missense variant)
not provided
GBenign
TMPRSS15
(N909Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
(P906A)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(V903fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
(Q902E)
Single nucleotide variant
(missense variant)
TMPRSS15-related disorder
+1 more
GBenign/Likely benign
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS15
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TMPRSS15
(Q893E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GBenign
TMPRSS15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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