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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	Postmenopausal osteoporosis +10 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)	Osteogenesis imperfecta +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)	Osteogenesis imperfecta type I +3 more	GPathogenic/Likely pathogenic
Select item 425646	NM_000089.4(COL1A2):c.1197+5G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +3 more	GPathogenic
Select item 425647	NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)	COL1A2 (R423H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +10 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 +2 more	GPathogenic/Likely pathogenic
Select item 425649	NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2 (G601S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GPathogenic
Select item 425650	NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	COL1A2 (G646V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +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 type I +2 more	GPathogenic
Select item 425654	NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val)	COL1A2 (G973V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	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)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23