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Items: 1 to 100 of 2904

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935480, LOC129935481
+1299 more
Copy number gain
See cases
GPathogenic
LOC129935841, LOC129935842
+1148 more
Copy number gain
See cases
GPathogenic
LOC129935871, LOC129935872
+986 more
Copy number gain
See cases
GPathogenic
COL4A4, LOC129389001
+2 more
Copy number loss
See cases
GUncertain significance
LOC126806566, LOC126806567
+393 more
Copy number loss
See cases
GPathogenic
COL4A4, LOC126806538
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GBenign
COL4A4, LOC126806538
+1 more
(M304V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GBenign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Duplication
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GBenign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Duplication
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Deletion
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Deletion
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GBenign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Kidney disorder
+1 more
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Duplication
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Duplication
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Deletion
(3 prime UTR variant)
Alport syndrome
GBenign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GBenign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Deletion
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GLikely benign
COL4A4
Single nucleotide variant
(3 prime UTR variant)
Alport syndrome
GUncertain significance
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