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Links from Gene

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
ACTN2, ADSS2
+271 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
ACTN2, LOC110121264
+9 more
Duplication
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GLikely benign
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
LOC129932885, MTR
Single nucleotide variant
(5 prime UTR variant)
Disorders of Intracellular Cobalamin Metabolism
GUncertain significance
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
ACTN2, EDARADD
+29 more
Copy number gain
See cases
GUncertain significance
LOC126806053, LOC126806054
+870 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
ACTN2, ADSS2
+302 more
Copy number loss
See cases
GPathogenic
ACTN2, B3GALNT2
+88 more
Copy number gain
See cases
GPathogenic
ABCB10, ACTA1
+656 more
Copy number gain
See cases
GPathogenic
ACTN2, EDARADD
+28 more
Copy number gain
See cases
GUncertain significance
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ACTN2, AGT
+378 more
Copy number loss
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
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