C0268335[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1036239	NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)	COL5A2 (R1471C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 213130	NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)	COL5A2 (R1453Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213125	NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)	COL5A2 (D1356G)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 213109	NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)	COL5A2 (S883Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1046108	NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)	COL5A2 (R836P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 839130	NM_000089.4(COL1A2):c.368C>A (p.Pro123His)	COL1A2 (P123H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 547238	NM_000089.4(COL1A2):c.1036-3T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 843049	NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)	COL1A2 (R882H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 861371	NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe)	COL5A1 (S386F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 519643	NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)	COL5A1 (P435L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 212937	NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)	COL5A1 (A546V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 575713	NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser)	COL5A1 (P719S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 654616	NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)	COL5A1 (G937R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 847961	NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)	COL5A1 (R1014C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 409120	NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)	COL5A1 (G1198S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1051709	NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)	COL5A1 (P1355L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 212977	NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)	COL5A1 (P1436L)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 644424	NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign