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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MATN3, WDR35-DT
(S460L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(R391C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
WDR35-DT, MATN3
Single nucleotide variant
(intron variant)
Connective tissue disorder
+3 more
GBenign
MATN3, WDR35-DT
(T303M)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign
MATN3, WDR35-DT
(S292N)
Indel
(missense variant)
not provided
GUncertain significance
MATN3, WDR35-DT
(V278I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MATN3, WDR35-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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