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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
LOC130058889, LOC130058890
+207 more
Copy number gain
See cases
GPathogenic
AHSP, ARMC5
+136 more
Copy number gain
See cases
GPathogenic
COX6A2
(Y94C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
(P89S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
Single nucleotide variant
(synonymous variant)
COX6A2-related condition
GLikely benign
COX6A2
(S85N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
(L81V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COX6A2
(T80I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
(N78K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
Single nucleotide variant
(synonymous variant)
COX6A2-related condition
GBenign
COX6A2
(R54L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
(G52S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COX6A2
(C43R)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 18
GLikely pathogenic
COX6A2
(S39R)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 18
GLikely pathogenic
COX6A2
(L12V)
Single nucleotide variant
(missense variant)
COX6A2-related condition
+1 more
GBenign/Likely benign
STX4, DCTPP1
+52 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
TGFB1I1, TRIM72
+38 more
Deletion
Branched-chain keto acid dehydrogenase kinase deficiency
GUncertain significance
AARS1, ABCC1
+591 more
Copy number gain
See cases
GUncertain significance
ZC3H7A, ZCCHC14
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
DPEP2, DPEP3
+811 more
Copy number gain
See cases
GPathogenic
AHSP, ALDOA
+99 more
Copy number loss
See cases
GLikely pathogenic
ITGAM, NPIPA3
+388 more
Complex
Hemimegalencephaly
GPathogenic
AHSP, ARMC5
+15 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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