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Items: 1 to 100 of 1035

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
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
B3GALT5, B3GALT5-AS1
+177 more
Copy number loss
See cases
GPathogenic
CBR1, CBR1-AS1
+110 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
CHAF1B, CLDN14
+99 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
DSCR9, DYRK1A
+34 more
Copy number gain
See cases
GPathogenic
ABCG1, B3GALT5
+224 more
Copy number loss
See cases
GPathogenic
DYRK1A, LOC130066653
Deletion
DYRK1A-related intellectual disability syndrome
GPathogenic
DYRK1A, LOC130066653
Copy number gain
See cases
GUncertain significance
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DSCR10, DSCR4
+31 more
Copy number loss
See cases
GPathogenic
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GBenign
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DYRK1A
Duplication
(5 prime UTR variant +1 more)
not provided
GLikely benign
DYRK1A
Duplication
(5 prime UTR variant +1 more)
not provided
GBenign
DYRK1A
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
DYRK1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
DYRK1A
(T3A)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
DYRK1A
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Deletion
(intron variant)
not provided
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
not provided
GBenign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
+1 more
GConflicting classifications of pathogenicity
DYRK1A
Deletion
(intron variant)
not specified
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Single nucleotide variant
(intron variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
(T7A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DYRK1A
(V15I)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GBenign
DYRK1A
(R16W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYRK1A
(R16Q)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GBenign
DYRK1A
Single nucleotide variant
(synonymous variant +1 more)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
(P19L)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
+1 more
GUncertain significance
DYRK1A
Single nucleotide variant
(synonymous variant +1 more)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Single nucleotide variant
(synonymous variant +1 more)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
Single nucleotide variant
(synonymous variant +1 more)
DYRK1A-related intellectual disability syndrome
+1 more
GLikely benign
DYRK1A
(F23L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYRK1A
(A26T)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
Single nucleotide variant
(synonymous variant +1 more)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
(Q29H)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
(M30L +1 more)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GBenign
DYRK1A
(M30V +1 more)
Single nucleotide variant
(missense variant +1 more)
DYRK1A-related intellectual disability syndrome
GBenign
DYRK1A
(A2T +1 more)
Single nucleotide variant
(missense variant)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DYRK1A
(G32V +1 more)
Single nucleotide variant
(missense variant)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
Single nucleotide variant
(synonymous variant)
DYRK1A-related intellectual disability syndrome
GLikely benign
DYRK1A
(P35S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DYRK1A
(Q10H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1A
(S12G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1A
(S41T +1 more)
Single nucleotide variant
(missense variant)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
(R43S +1 more)
Single nucleotide variant
(missense variant)
DYRK1A-related intellectual disability syndrome
GUncertain significance
DYRK1A
(R43C +1 more)
Single nucleotide variant
(missense variant)
DYRK1A-related intellectual disability syndrome
+1 more
GBenign/Likely benign
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