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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+498 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+413 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
ADAM17, ASAP2
+297 more
Copy number loss
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
RRM2
(A53S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
RRM2
(D73E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RRM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RRM2
(K30R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RRM2
(T120A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RRM2
(D149G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RRM2
(L145S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RRM2
(K185R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RRM2
(T259M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C2orf48, RRM2
(M26L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
C2orf48, RRM2
Single nucleotide variant
not specified
GUncertain significance
C2orf48, RRM2
Single nucleotide variant
(non-coding transcript variant)
not specified
GUncertain significance
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
APOB, ASAP2
+59 more
Copy number gain
not specified
GPathogenic
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
C2orf48, CYS1
+3 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ATP6V1C2, C2orf48
+19 more
Copy number loss
not provided
GUncertain significance
ADAM17, ASAP2
+29 more
Copy number loss
not provided
GUncertain significance
C2orf48, CYS1
+3 more
Copy number gain
not provided
GUncertain significance
ACP1, ADAM17
+65 more
Copy number gain
See cases
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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