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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAL3ST3, GPR152
+282 more
Copy number loss
See cases
GPathogenic
ACTN3, ACY3
+212 more
Copy number gain
See cases
GPathogenic
ACY3, AIP
+129 more
Copy number loss
See cases
GPathogenic
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
LOC100130987, POLD4
(H103R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130987, POLD4
(P81T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC100130987, POLD4
(R66L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC100130987, POLD4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC100130987, POLD4
(W56R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130987, POLD4
(G19R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130987, POLD4
(P12L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100130987, POLD4
(S10C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ALDH3B2, ACY3
+32 more
Copy number gain
not provided
GUncertain significance
ACY3, AIP
+21 more
Copy number gain
not provided
GUncertain significance
ACTN3, ACY3
+94 more
Copy number gain
not provided
GPathogenic
ACTN3, ANKRD13D
+104 more
Copy number gain
See cases
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ACTN3, ACY3
+57 more
Copy number gain
See cases
GUncertain significance
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