ClinVar for MedGen (Select 1763836) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674616	NM_000088.4(COL1A1):c.1461+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +5 more	GUncertain significance
Select item 2576617	NM_000088.4(COL1A1):c.3814+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	GLikely pathogenic
Select item 2073530	NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)	COL1A1 (G115E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1992427	NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys)	COL1A1 (G188C)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	GLikely pathogenic
Select item 1708499	NM_000088.4(COL1A1):c.4006-1G>A	COL1A1	Single nucleotide variant (splice acceptor variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +1 more	GPathogenic
Select item 1431093	NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	COL1A1 (P556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 1326536	NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)	COL1A1, LOC126862586 (E288K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta, perinatal lethal +8 more	GPathogenic/Likely pathogenic
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 1076006	NM_000088.4(COL1A1):c.288del (p.Asp97fs)	COL1A1 (D97fs)	Deletion (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 811535	NM_000088.4(COL1A1):c.104-441G>T	COL1A1	Single nucleotide variant (intron variant)	Infantile cortical hyperostosis +8 more	GBenign/Likely benign
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +10 more	GLikely benign
Select item 566740	NM_000088.4(COL1A1):c.1200+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +10 more	GUncertain significance
Select item 517702	NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 512519	NM_000088.4(COL1A1):c.589-20T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +8 more	GLikely benign
Select item 488809	NM_000088.4(COL1A1):c.3207+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 478914	NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	COL1A1 (G1166fs)	Deletion (frameshift variant)	Infantile cortical hyperostosis +8 more	GPathogenic
Select item 456752	NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	COL1A1 (A868T)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 456729	NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)	COL1A1 (A390T)	Single nucleotide variant (missense variant)	not specified +11 more	GBenign/Likely benign
Select item 444409	NM_000088.4(COL1A1):c.4005+5G>A	COL1A1	Single nucleotide variant (intron variant)	not provided +11 more	GUncertain significance
Select item 425639	NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	COL1A1, LOC126862586 (G257R)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 425634	NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	COL1A1 (G188D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 425597	NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	COL1A1 (R415*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +8 more	GPathogenic
Select item 425583	NM_000088.4(COL1A1):c.2343+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 421361	NM_000088.4(COL1A1):c.1056+12dup	COL1A1	Duplication (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 420060	NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	COL1A1 (R1066C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 380457	NM_000088.4(COL1A1):c.588+16G>A	COL1A1	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 379433	NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)	COL1A1 (A1075T)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign
Select item 372753	NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	COL1A1	Microsatellite (inframe_deletion)	COL1A1-related disorder +4 more	GPathogenic
Select item 286349	NM_000088.4(COL1A1):c.1821C>T (p.Val607=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +12 more	GBenign/Likely benign
Select item 254947	NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign
Select item 235542	NM_000088.4(COL1A1):c.1300-8C>G	COL1A1	Single nucleotide variant (intron variant)	not specified +11 more	GBenign
Select item 197496	NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form +13 more	GBenign/Likely benign
Select item 161457	NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	COL1A1 (R1093C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +9 more	GUncertain significance
Select item 35920	NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	COL1A1 (R1026*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 17348	NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)	COL1A1 (G191D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 17343	NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	COL1A1 (R312C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +12 more	GPathogenic/Likely pathogenic

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Items: 38