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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZSWIM6
(A1136D)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
GUncertain significance
ZSWIM6
(R587T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZSWIM6
(G750R)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
GUncertain significance
ZSWIM6
Single nucleotide variant
(synonymous variant)
Acromelic frontonasal dysostosis
+2 more
GLikely benign
ZSWIM6
(A11T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZSWIM6
Duplication
(inframe_insertion)
not provided
+2 more
GUncertain significance
ZSWIM6
(N594S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZSWIM6
(N491S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ZSWIM6
(H228R)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
GUncertain significance
ZSWIM6
(M664T)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
+1 more
GUncertain significance
ZSWIM6
(R761W)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
+1 more
GUncertain significance
ZSWIM6
Microsatellite
(inframe_insertion)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ZSWIM6
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ZSWIM6
(V636M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ZSWIM6
Deletion
(inframe_deletion)
Acromelic frontonasal dysostosis
GUncertain significance
ZSWIM6
(R1163W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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