C5543412[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212936	NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)	COL5A1 (A532V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 625924	NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val)	COL5A1 (E677V)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +2 more	GUncertain significance
Select item 1527853	NM_000093.5(COL5A1):c.2153del (p.Gly718fs)	COL5A1 (G718fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 212949	NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)	COL5A1 (P785L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 373260	NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)	COL5A1 (P908S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 426317	NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)	COL5A1 (G1087A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 212960	NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)	COL5A1 (A1098T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 136888	NM_000093.5(COL5A1):c.4068+7G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 212994	NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)	COL5A1, LOC101448202 (R1627W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 992509	NM_000093.5(COL5A1):c.5137-8C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 529301	NM_000093.5(COL5A1):c.5371-8T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 827999	NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)	COL5A1, LOC101448202 (Q1796*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic