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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMCN1, LOC129388665
(Q4998R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1, LOC129388665
(A5001T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129388665, HMCN1
(T5004F)
Indel
(missense variant)
not provided
+2 more
GBenign/Likely benign
HMCN1, LOC129388665
(T5004S)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
+2 more
GBenign/Likely benign
HMCN1, LOC129388665
(T5004I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HMCN1, LOC129388665
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HMCN1, LOC129388665
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HMCN1, LOC129388665
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1, LOC129388665
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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