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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STIL
(R1279C +4 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
STIL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
STIL
(P1193L +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
STIL
(A1146V +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
STIL
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
STIL
(H984R +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
STIL
(H969R +4 more)
Single nucleotide variant
(missense variant)
STIL-related condition
+3 more
GConflicting classifications of pathogenicity
STIL
(P918S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STIL
(V848I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
STIL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
STIL
(V788I +1 more)
Single nucleotide variant
(missense variant)
STIL-related condition
+3 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
STIL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
STIL
(L485F +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
STIL
(H458Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
STIL
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
STIL
(S379F +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
STIL
(A357T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
STIL
(R352H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
STIL
(N298D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
STIL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
STIL
Single nucleotide variant
(intron variant)
STIL-related condition
+1 more
GConflicting classifications of pathogenicity
STIL
(S287del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
STIL
(V97A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STIL
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
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