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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACCS, ACCSL
+225 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+265 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+259 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+255 more
Copy number gain
See cases
GLikely pathogenic
AMBRA1, ARHGAP1
+13 more
Copy number gain
See cases
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Deletion
not provided
GUncertain significance
ATG13
(D14G)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ATG13
(L22V)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ATG13
(C38G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ATG13
(S44F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(K56R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(C21F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(T37M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(S83R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(T175I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(T105S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(R218C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(R218H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(N151S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(I46M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(F177L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(S257P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(A289T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(S267A +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(V278I +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(V302F +4 more)
Single nucleotide variant
(intron variant +2 more)
not specified
GUncertain significance
ATG13
(N285S +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATG13
(P111L +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(S356N +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ATG13
(A351T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(M164L +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(N401D +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(G193S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(S237F +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(H465R +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(L227F +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(P228L +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(R417Q +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
(A290T +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG13
Single nucleotide variant
(splice acceptor variant)
Malignant tumor of prostate
GUncertain significance
ATG13
(A474D +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP1, ATG13
+6 more
Copy number gain
not provided
GUncertain significance
AMBRA1, ARHGAP1
+5 more
Copy number gain
not provided
GUncertain significance
ACP2, AGBL2
+40 more
Deletion
Leukocyte adhesion deficiency type II
GPathogenic
ACP2, ACCS
+216 more
Copy number gain
See cases
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
AMBRA1, ARHGAP1
+2 more
Copy number loss
not specified
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Copy number loss
not specified
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Duplication
not provided
GUncertain significance
ACCS, ACCSL
+33 more
Copy number loss
not provided
GPathogenic
ZNF408, AMBRA1
+4 more
Duplication
not provided
GUncertain significance
ARHGAP1, ATG13
+40 more
Duplication
Leukocyte adhesion deficiency type II
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ARHGAP1, ATG13
+4 more
Copy number gain
not provided
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Duplication
not provided
GUncertain significance
AMBRA1, ARHGAP1
+9 more
Copy number gain
not provided
GUncertain significance
AMBRA1, ARHGAP1
+4 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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