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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHNAK, ASRGL1
+110 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+105 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+95 more
Copy number gain
See cases
GPathogenic
B3GAT3, BSCL2
+70 more
Copy number gain
See cases
GUncertain significance
LBHD1, UQCC3
(A134E)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
LBHD1, UQCC3
(A125V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
LBHD1, UQCC3
(R15G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
LBHD1, UQCC3
(S3Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(K6R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(G19A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(V20L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(V20E)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 9
GPathogenic
LBHD1, UQCC3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LBHD1, UQCC3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LBHD1, UQCC3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LBHD1, UQCC3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LBHD1, UQCC3
(R48G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LBHD1, UQCC3
(R48K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LBHD1, UQCC3
(E52A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
LBHD1, UQCC3
(R55G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(T56I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LBHD1, UQCC3
(T69I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LBHD1, UQCC3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LBHD1, UQCC3
(E72V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(A75S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(W76G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
LBHD1, UQCC3
(R77K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(K78R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LBHD1, UQCC3
(G84R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LBHD1, UQCC3
(G86S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LBHD1, UQCC3
(G86D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LBHD1, UQCC3
(G89S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
LBHD1, UQCC3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UQCC3, LBHD1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
CSKMT, GANAB
+3 more
Duplication
not provided
GUncertain significance
BSCL2, LBHD1
+3 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
B3GAT3, BSCL2
+8 more
Duplication
Larsen-like syndrome, B3GAT3 type
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
CD5, CD6
+58 more
Copy number gain
not provided
GUncertain significance
B3GAT3, BSCL2
+36 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
AHNAK, ASRGL1
+47 more
Copy number loss
See cases
GLikely pathogenic
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