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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SASS6
(S166*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly 14, primary, autosomal recessive
GLikely pathogenic
SASS6
(L57fs)
Deletion
(frameshift variant +1 more)
Microcephaly 14, primary, autosomal recessive
GLikely pathogenic
SASS6
Deletion
(splice acceptor variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SASS6
(V45D)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 14, primary, autosomal recessive
GUncertain significance
SASS6
(A259V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SASS6
Single nucleotide variant
(splice donor variant)
Microcephaly 14, primary, autosomal recessive
GPathogenic
SASS6
Single nucleotide variant
(intron variant)
Microcephaly 14, primary, autosomal recessive
GLikely pathogenic
SASS6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
SASS6
Single nucleotide variant
(intron variant)
Microcephaly 14, primary, autosomal recessive
+2 more
GBenign
SASS6
(R445H +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 14, primary, autosomal recessive
+2 more
GBenign
SASS6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
SASS6
(S29N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly 14, primary, autosomal recessive
+3 more
GBenign/Likely benign
SASS6
(I62T)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 14, primary, autosomal recessive
GPathogenic
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