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Items: 1 to 100 of 1444

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
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
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
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
C21orf58, DIP2A
+34 more
Copy number loss
See cases
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
not provided
GBenign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
(D1976N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
(A1973V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(A1973P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(E1968G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(S1960*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(S1959G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCM3AP, MCM3AP-AS1
(R1958Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(R1958W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP-AS1, MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
(L1950V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(R1949P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP-AS1, MCM3AP
(R1949*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
(T1944M)
Single nucleotide variant
(missense variant)
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
+1 more
GUncertain significance
MCM3AP, MCM3AP-AS1
(T1944P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(T1944A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(G1943E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP-AS1, MCM3AP
(G1943R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(T1942K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MCM3AP-AS1, MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM3AP, MCM3AP-AS1
(L1938P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
(R1933del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
MCM3AP-AS1, MCM3AP
(R1933K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Duplication
(splice acceptor variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MCM3AP, MCM3AP-AS1
(S1926I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCM3AP, MCM3AP-AS1
(S1926G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCM3AP, MCM3AP-AS1
(T1924A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(V1923fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
(S1922F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM3AP, MCM3AP-AS1
(S1922fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
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