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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
GRSF1, LOC126807079
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LOC129992714, LOC129992715
+236 more
Copy number loss
See cases
GPathogenic
ANXA3, ART3
+107 more
Copy number gain
See cases
GPathogenic
CCNI
(V257A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNI
(H204Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNI
(M101V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNI
(A75T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNI
(V66I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCNI
(N46S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AREG, ART3
+37 more
Copy number loss
not specified
GUncertain significance
SPATA18, SPATA4
+537 more
Copy number gain
not provided
GPathogenic
ABCG2, ABRAXAS1
+91 more
Copy number gain
not specified
GPathogenic
CXCL5, CXCL6
+51 more
Copy number loss
not specified
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ABRAXAS1, ADAMTS3
+97 more
Copy number loss
See cases
GPathogenic
SOWAHB, SEPTIN11
+4 more
Copy number loss
not provided
GUncertain significance
CXCL3, LIN54
+82 more
Copy number loss
not provided
GPathogenic
ADAMTS3, AFM
+92 more
Copy number loss
not provided
GPathogenic
CCDC158, CCNG2
+4 more
Copy number gain
not provided
GUncertain significance
ADAMTS3, AFM
+51 more
Copy number loss
not provided
GPathogenic
CCDC158, CCNG2
+4 more
Copy number gain
not provided
GUncertain significance
CCNG2, CCNI
+109 more
Copy number gain
not provided
GPathogenic
C4orf51, CABS1
+745 more
Copy number gain
See cases
GPathogenic
NAA11, NAA15
+745 more
Copy number gain
See cases
GPathogenic
HELT, HERC3
+744 more
Copy number gain
See cases
GPathogenic
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