"Department of Medical Sciences, Uppsala University"[submitter] AND "C - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425658	NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	COL1A2 (G109D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 265387	NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	COL1A2 (G193S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic
Select item 425660	NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)	COL1A2 (G265R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425661	NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)	COL1A2 (G265D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425662	NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)	COL1A2 (G286S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425663	NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)	COL1A2 (G292S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425664	NM_000089.4(COL1A2):c.992G>A (p.Gly331Asp)	COL1A2 (G331D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425643	NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	COL1A2 (G337S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +8 more	GPathogenic
Select item 425644	NM_000089.4(COL1A2):c.1162G>C (p.Gly388Arg)	COL1A2 (G388R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425645	NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)	COL1A2 (G391S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 425646	NM_000089.4(COL1A2):c.1197+5G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GPathogenic
Select item 425647	NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)	COL1A2 (R423H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 425648	NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala)	COL1A2 (G469A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 425649	NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2 (G601S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic
Select item 425650	NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	COL1A2 (G646V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +7 more	GPathogenic/Likely pathogenic
Select item 425653	NM_000089.4(COL1A2):c.2835+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic
Select item 425654	NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val)	COL1A2 (G973V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425655	NM_000089.4(COL1A2):c.3008G>A (p.Gly1003Asp)	COL1A2 (G1003D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic/Likely pathogenic
Select item 425656	NM_000089.4(COL1A2):c.3089G>C (p.Gly1030Ala)	COL1A2 (G1030A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425657	NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)	COL1A2 (G1036R)	Single nucleotide variant (missense variant)	Short fetal femur length +2 more	GPathogenic
Select item 425659	NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys)	COL1A2 (G1102C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425665	LRG_2t1:c.(?_-471)_(738+1_739-1)del	COL1A2	Deletion	Osteogenesis imperfecta type III	GPathogenic

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Items: 23