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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A6
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
COL4A6
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, X-linked 6
+2 more
GBenign/Likely benign
COL4A6
(K896N +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A6
(L892V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A6
(R461Q +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, X-linked 6
+2 more
GBenign
COL4A6
(R461L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
COL4A6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A6
Single nucleotide variant
(synonymous variant)
Hearing loss, X-linked 6
+2 more
GBenign
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