"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136899	NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 1702215	NM_000093.5(COL5A1):c.4555-6T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 136901	NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 1117832	NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 212984	NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	COL5A1, LOC101448202 (S1548L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1702217	NM_000093.5(COL5A1):c.4645-4C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702218	NM_000093.4(COL5A1):c.4646dupG	COL5A1, LOC101448202	Duplication	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 136902	NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 430502	NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)	COL5A1, LOC101448202 (E1571fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome +2 more	GPathogenic
Select item 136904	NM_000093.5(COL5A1):c.4699-6C>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1574862	NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 264439	NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 213062	NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	COL5A1, LOC101448202 (A1636T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1702219	NM_000093.5(COL5A1):c.5031del (p.Ser1678fs)	LOC101448202, COL5A1 (S1678fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 136906	NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 136908	NM_000093.5(COL5A1):c.5068-7T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 1573118	NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 136911	NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 136912	NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 136913	NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	COL5A1-related disorder +6 more	GBenign/Likely benign
Select item 839296	NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)	COL5A1, LOC101448202 (W1752S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136914	NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	COL5A1, LOC101448202 (T1757M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 180300	NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	COL5A1, LOC101448202 (A1784T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 136915	NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)	LOC101448202, COL5A1 (D1803N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 365760	NM_000093.5(COL5A1):c.*733C>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign
Select item 365769	NM_000093.5(COL5A1):c.*1125A>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +1 more	GBenign

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Items: 26