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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(D68G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(R271Q)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GBenign/Likely benign
COL3A1
(R509H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL3A1
(R1432L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(D1453N)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+3 more
GUncertain significance
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