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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008643, WASHC4
(D17N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WASHC4
(S148C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 43
GUncertain significance
WASHC4
(K214R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
WASHC4
(L324S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 43
GUncertain significance
WASHC4
(M924V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 43
GUncertain significance
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