ClinVar for MedGen (Select 1751229) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064106	NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)	COL1A2 (G100D)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GLikely pathogenic
Select item 3064039	NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)	COL1A2 (Q23*)	Single nucleotide variant (nonsense)	Ehlers-danlos syndrome, arthrochalasia type, 2 +4 more	Gnot provided
Select item 1920444	NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)	COL1A2 (E749Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 1709681	NM_000089.4(COL1A2):c.693+5G>A	COL1A2	Single nucleotide variant (intron variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1708977	NM_000089.4(COL1A2):c.1273G>A (p.Ala425Thr)	COL1A2 (A425T)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GUncertain significance
Select item 1705261	NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)	COL1A2 (G382V)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GUncertain significance
Select item 1694467	NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)	COL1A2 (G511S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GPathogenic
Select item 1683593	NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)	COL1A2 (G340S)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GLikely pathogenic
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 1498972	NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	COL1A2 (C1195R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GPathogenic/Likely pathogenic
Select item 1398213	NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)	COL1A2 (W1324*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 988623	NM_000089.4(COL1A2):c.324+4del	COL1A2	Deletion (intron variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GPathogenic
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GUncertain significance
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GPathogenic
Select item 570172	NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)	COL1A2 (V317I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 526887	NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	COL1A2 (R948H)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 521008	NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	COL1A2 (G526R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 503685	NM_000089.4(COL1A2):c.432+4_432+7del	COL1A2	Deletion (splice donor variant)	not provided +3 more	GPathogenic
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more	GBenign/Likely benign
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +9 more	GPathogenic
Select item 425658	NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	COL1A2 (G109D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 425650	NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	COL1A2 (G646V)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more	GPathogenic/Likely pathogenic
Select item 423747	NM_000089.4(COL1A2):c.286A>G (p.Met96Val)	COL1A2 (M96V)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 392356	NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)	COL1A2 (R693Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +13 more	GBenign/Likely benign
Select item 360962	NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	COL1A2 (R819H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +6 more	GConflicting classifications of pathogenicity
Select item 284986	NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)	COL1A2 (V270I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GBenign/Likely benign
Select item 35957	NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2 (G280S)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +7 more	GPathogenic
Select item 35936	NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	COL1A2-related disorder +13 more	GBenign/Likely benign
Select item 35932	NM_000089.4(COL1A2):c.1036-14G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +11 more	GBenign/Likely benign
Select item 17277	NM_000089.4(COL1A2):c.3105+2T>C	COL1A2	Single nucleotide variant (splice donor variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GPathogenic
Select item 17271	NC_000007.13:g.94035075_94047591dup	COL1A2	Duplication	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GPathogenic
Select item 17269	NM_000089.4(COL1A2):c.432+5G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GPathogenic

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Items: 32