ClinVar for MedGen (Select 929458) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594955	NM_000089.4(COL1A2):c.2990G>T (p.Gly997Val)	COL1A2 (G997V)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +6 more	GLikely pathogenic
Select item 3594954	NM_000089.4(COL1A2):c.1523G>T (p.Gly508Val)	COL1A2 (G508V)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +6 more	GPathogenic
Select item 3064039	NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)	COL1A2 (Q23*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta, perinatal lethal +4 more	Gnot provided
Select item 2627392	NM_000089.4(COL1A2):c.179G>A (p.Gly60Asp)	COL1A2 (G60D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type	GUncertain significance
Select item 2581021	NM_000089.4(COL1A2):c.2402_2403insA (p.Gly802fs)	COL1A2 (G802fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, cardiac valvular type	GLikely pathogenic
Select item 1810759	NM_000089.4(COL1A2):c.670C>T (p.Arg224Cys)	COL1A2 (R224C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type	GLikely pathogenic
Select item 1675161	NM_000089.4(COL1A2):c.432+2T>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GLikely pathogenic
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +9 more	GLikely benign
Select item 1362946	NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg)	COL1A2 (Q114R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1068896	NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	COL1A2 (G919S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +6 more	GPathogenic/Likely pathogenic
Select item 949148	NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)	COL1A1 (R1356H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Osteoporosis +8 more	GUncertain significance
Select item 848804	NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)	COL1A2 (G1084C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +10 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 839130	NM_000089.4(COL1A2):c.368C>A (p.Pro123His)	COL1A2 (P123H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 810133	NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)	COL1A2 (P770L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +10 more	GUncertain significance
Select item 644457	NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	COL1A2 (G448R)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 618023	NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	COL1A2 (G322S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GPathogenic/Likely pathogenic
Select item 585504	NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)	COL1A2 (G130V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +9 more	GPathogenic/Likely pathogenic
Select item 581099	NM_000089.4(COL1A2):c.433-2A>C	COL1A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GPathogenic/Likely pathogenic
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type +8 more	GPathogenic
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 526896	NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	COL1A2 (R224H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GConflicting classifications of pathogenicity
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 526887	NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	COL1A2 (R948H)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +10 more	GUncertain significance
Select item 496615	NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	COL1A2 (G199D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GLikely pathogenic
Select item 456848	NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2 (G328S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type +8 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 +11 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 426918	NM_000089.4(COL1A2):c.1136G>A (p.Gly379Glu)	COL1A2 (G379E)	Single nucleotide variant (missense variant)	not provided +7 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 425647	NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)	COL1A2 (R423H)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
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)	not specified +13 more	GBenign/Likely benign
Select item 377716	NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys)	COL1A2 (R714C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 373178	NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)	COL1A2 (N1285H)	Single nucleotide variant (missense variant)	not specified +14 more	GConflicting classifications of pathogenicity
Select item 360952	NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)	COL1A2 (A351T)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +4 more	GUncertain significance
Select item 284986	NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)	COL1A2 (V270I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +8 more	GBenign/Likely benign
Select item 281902	NM_000089.4(COL1A2):c.594+5A>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +7 more	GBenign
Select item 281098	NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	COL1A2 (P1016H)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 265387	NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	COL1A2 (G193S)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +9 more	GPathogenic/Likely pathogenic
Select item 35957	NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2 (G280S)	Single nucleotide variant (missense variant)	Increased susceptibility to fractures +11 more	GPathogenic
Select item 35936	NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +12 more	GBenign/Likely benign
Select item 35934	NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)	COL1A2 (R432Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 35932	NM_000089.4(COL1A2):c.1036-14G>A	COL1A2	Single nucleotide variant (intron variant)	not provided +11 more	GBenign/Likely benign
Select item 17280	NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)	COL1A2	Duplication (frameshift variant)	Ehlers-Danlos syndrome, cardiac valvular type	GPathogenic
Select item 17279	NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter)	COL1A2 (E1201*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, cardiac valvular type	GPathogenic
Select item 17276	NM_000089.4(COL1A2):c.70+717A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, cardiac valvular type	GPathogenic
Select item 17275	NM_000089.4(COL1A2):c.1404+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 17274	NM_000089.4(COL1A2):c.1404+1G>C	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, cardiac valvular type	GPathogenic
Select item 17273	NM_000089.4(COL1A2):c.540+5G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, cardiac valvular type	GPathogenic

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Links from MedGen

Items: 52