"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC101448202"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213054	NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)	COL5A1, LOC101448202 (P1508T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220985	NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)	COL5A1, LOC101448202 (I1573V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1000461	NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)	COL5A1, LOC101448202 (E1599K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1194020	NM_000093.5(COL5A1):c.5136+152C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 136909	NM_000093.5(COL5A1):c.5137-12C>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136910	NM_000093.5(COL5A1):c.5137-11T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 136911	NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 263994	NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 449274	NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)	COL5A1, LOC101448202 (P1780H)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +3 more	GConflicting classifications of pathogenicity
Select item 213035	NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)	LOC101448202, COL5A1 (D1787fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic
Select item 136915	NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)	LOC101448202, COL5A1 (D1803N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign