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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS1
Single nucleotide variant
not provided
+1 more
GBenign
BBS1
(L93F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BBS1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
BBS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZDHHC24, BBS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GBenign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZDHHC24, BBS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZDHHC24, BBS1
(V568M)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
ZDHHC24, BBS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
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