"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL5A2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519680	NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)	COL5A2 (M1366V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 213159	NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)	COL5A2 (H1239R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459746	NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)	COL5A2 (P1226S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 459745	NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)	COL5A2 (P1220S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 333136	NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)	COL5A2 (R1114Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 213114	NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)	COL5A2 (R1060W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 377736	NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GLikely benign
Select item 74355	NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)	COL5A2 (P961S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 213092	NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)	COL5A2 (A914V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 213107	NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)	COL5A2 (V845I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 180303	NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)	COL5A2 (P671S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 180302	NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)	COL5A2 (E565Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GUncertain significance
Select item 547287	NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)	COL5A2 (P553R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213075	NM_000393.5(COL5A2):c.1456-20T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 1369746	NM_000393.5(COL5A2):c.1005+3A>G	COL5A2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 523366	NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)	COL5A2 (G252C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GLikely pathogenic
Select item 213161	NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)	COL5A2 (R146Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 421327	NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)	COL5A2 (R130C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 653176	NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)	COL5A2 (I53N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GUncertain significance