"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696848	NM_000093.5(COL5A1):c.57G>A (p.Leu19=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523328	NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	COL5A1 (G203V)	Single nucleotide variant (missense variant)	Inguinal hernia +12 more	GLikely pathogenic
Select item 519647	NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)	COL5A1 (R210W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 213017	NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)	COL5A1 (P252S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 931023	NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)	COL5A1 (G270S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 930585	NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)	COL5A1 (P290A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 373924	NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 931041	NM_000093.5(COL5A1):c.1495-7T>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GConflicting classifications of pathogenicity
Select item 930866	NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)	COL5A1 (R594G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931079	NM_000093.5(COL5A1):c.2646+16del	COL5A1	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 930611	NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)	COL5A1 (Q911*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 2	GPathogenic
Select item 374067	NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	COL5A1 (P968fs)	Deletion (frameshift variant)	Cutis laxa +9 more	GLikely pathogenic
Select item 523325	NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)	COL5A1 (P1254S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GUncertain significance
Select item 136892	NM_000093.5(COL5A1):c.4230+5C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +9 more	GBenign/Likely benign
Select item 930317	NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)	COL5A1, LOC101448202 (V1602fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 523326	NM_000093.5(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del)	COL5A1, LOC101448202	Deletion (inframe_deletion)	Hyperextensible skin +4 more	GLikely pathogenic
Select item 523327	NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)	COL5A1, LOC101448202 (E1772K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic