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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(A170V)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
GUncertain significance
COL3A1
(A295V)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GUncertain significance
COL3A1
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GLikely pathogenic
COL3A1
(G489W)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
GLikely pathogenic
COL3A1, LOC126806446
(A784V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GConflicting classifications of pathogenicity
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