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Items: 1 to 100 of 328

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
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
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
+268 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
LINC01671, LOC101928212
+45 more
Duplication
Primary ciliary dyskinesia
GUncertain significance
WDR4
(A408V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
WDR4
(E261Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
(P405T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
(K255R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
(H398N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR4
(D251E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR4
(D397G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
(D251N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR4
(D396Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
(G394R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
(P247L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
WDR4
(R244Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
WDR4
(R244W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
WDR4
(R388C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR4
(R242Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
(Q386* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
WDR4
(K385Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
(E383K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
WDR4
(L237P +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
(E231D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR4
(E376K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
WDR4
(K373Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
(K372N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
(L371V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
WDR4-related disorder
GLikely benign
WDR4
(T223I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
Single nucleotide variant
(synonymous variant +1 more)
WDR4-related disorder
GLikely benign
WDR4
(T364K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
WDR4
(F211L +2 more)
Single nucleotide variant
(missense variant +1 more)
WDR4-related disorder
+1 more
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
(G351R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR4
(G351C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR4
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
WDR4
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
WDR4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR4
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR4
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
WDR4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR4
(M345V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
WDR4
(R340C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR4
(V332M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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