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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992665, LOC129992666
+103 more
Copy number loss
See cases
GPathogenic
ADAMTS3, AFM
+121 more
Copy number loss
See cases
GLikely pathogenic
PARM1-AS1, PCAT4
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
AMBN, AMTN
+30 more
Copy number gain
See cases
GUncertain significance
AMBN, AMTN
+26 more
Copy number gain
See cases
GUncertain significance
DCK, GC
+23 more
Copy number gain
See cases
GUncertain significance
DCK, GC
+21 more
Copy number gain
See cases
GUncertain significance
MOB1B
(L4F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MOB1B
(K16R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(M48I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(M46V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(D52N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(N54S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(T101M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(I107V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(S115P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(V147A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB1B
(R203K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMBN, AMTN
+13 more
Copy number gain
not specified
GUncertain significance
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
GRSF1, AMBN
+8 more
Copy number gain
not provided
GUncertain significance
ADAMTS3, AFM
+58 more
Copy number loss
not provided
GPathogenic
ADGRL3, AMBN
+52 more
Copy number loss
not provided
GPathogenic
DCK, GRSF1
+2 more
Copy number gain
not provided
GUncertain significance
ADAMTS3, ADGRL3
+58 more
Copy number loss
not specified
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
DCK, GRSF1
+3 more
Copy number gain
not provided
GUncertain significance
ABRAXAS1, ADAMTS3
+97 more
Copy number loss
See cases
GPathogenic
ADAMTS3, AFM
+92 more
Copy number loss
not provided
GPathogenic
AMBN, AMTN
+17 more
Copy number gain
not provided
GUncertain significance
ADAMTS3, AFM
+51 more
Copy number loss
not provided
GPathogenic
CCNG2, CCNI
+109 more
Copy number gain
not provided
GPathogenic
ADAMTS3, AMBN
+49 more
Copy number gain
not provided
GPathogenic
ADAMTS3, AFM
+75 more
Copy number loss
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
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