"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 101195	NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)	COL3A1	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 450335	NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 827995	NM_000090.4(COL3A1):c.1455+4C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 827998	NM_000090.4(COL3A1):c.1980T>A (p.Gly660=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 263465	NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)	COL3A1	Single nucleotide variant (synonymous variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 517928	NM_000090.4(COL3A1):c.2607+10G>A	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 459782	NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=)	COL3A1	Single nucleotide variant (synonymous variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GLikely benign
Select item 625922	NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=)	COL3A1	Single nucleotide variant (synonymous variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 199742	NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)	COL3A1 (R1109G)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 625923	NM_000090.4(COL3A1):c.3604G>T (p.Ala1202Ser)	COL3A1 (A1202S)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 161218	NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	COL3A1 (K1313R)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 372575	NM_000090.4(COL3A1):c.4254+3A>G	COL3A1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity