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Items: 1 to 100 of 654

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(G5R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(P8S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(P10H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
(A11T)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
+1 more
GUncertain significance
ZSWIM6
(L14F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GBenign
ZSWIM6
Microsatellite
(inframe_deletion)
not provided
GLikely benign
ZSWIM6
(G26del)
Microsatellite
(inframe_deletion)
not specified
+1 more
GBenign/Likely benign
ZSWIM6
Deletion
(inframe_deletion)
not provided
GBenign
ZSWIM6
Microsatellite
(inframe_deletion)
not provided
+1 more
GBenign/Likely benign
ZSWIM6
Deletion
(inframe_deletion)
not provided
GBenign
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
Duplication
(inframe_insertion)
not provided
GUncertain significance
ZSWIM6
(G25R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Duplication
(inframe_insertion)
not provided
GLikely benign
ZSWIM6
Duplication
(inframe_insertion)
not provided
GUncertain significance
ZSWIM6
Duplication
(inframe_insertion)
not provided
+2 more
GUncertain significance
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
ZSWIM6
(S28G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
+1 more
GBenign/Likely benign
ZSWIM6
(S40A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(A41T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
(A41V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(R43G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(P44A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(P44L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(P46S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(P46R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZSWIM6
(A48T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
ZSWIM6
Microsatellite
(inframe_insertion)
Acromelic frontonasal dysostosis
+2 more
GConflicting classifications of pathogenicity
ZSWIM6
Microsatellite
(inframe_deletion)
not provided
GLikely benign
ZSWIM6
(A56del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(A62G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
(I80T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(R97S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(G135D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(S141C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
Microsatellite
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
ZSWIM6
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(G154S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(S155A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(S155F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
(S158Y)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZSWIM6
Microsatellite
(inframe_deletion)
not provided
GBenign
ZSWIM6
Deletion
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZSWIM6
Indel
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Deletion
(inframe_deletion)
Inborn genetic diseases
+1 more
GBenign/Likely benign
ZSWIM6
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
Acromelic frontonasal dysostosis
+2 more
GLikely benign
ZSWIM6
(T167A)
Indel
(missense variant)
not provided
GUncertain significance
ZSWIM6
(T167A)
Indel
(missense variant)
not provided
GUncertain significance
ZSWIM6
(S168A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(S168L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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