"Ambry Genetics"[submitter] AND "LOC126862586"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1147202	NM_000088.4(COL1A1):c.918G>T (p.Leu306=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 1764614	NM_000088.4(COL1A1):c.876T>C (p.Pro292=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1558340	NM_000088.4(COL1A1):c.859-5T>C	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 447147	NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT	COL1A1, LOC126862586	Indel (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 391380	NM_000088.4(COL1A1):c.801C>T (p.His267=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1760852	NM_000088.4(COL1A1):c.783C>T (p.Leu261=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1760721	NM_000088.4(COL1A1):c.780C>G (p.Gly260=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1760387	NM_000088.4(COL1A1):c.773C>G (p.Thr258Arg)	COL1A1, LOC126862586 (T258R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 425141	NM_000088.4(COL1A1):c.768C>T (p.Pro256=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 2562352	NM_000088.4(COL1A1):c.750+3G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 287981	NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)	COL1A1, LOC126862586 (P247L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3268602	NM_000088.4(COL1A1):c.731G>T (p.Arg244Leu)	COL1A1, LOC126862586 (R244L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757870	NM_000088.4(COL1A1):c.723T>G (p.Pro241=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1757250	NM_000088.4(COL1A1):c.711A>G (p.Lys237=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign