"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL1A1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 450185	NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	COL1A1 (R1399H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +9 more	GBenign/Likely benign
Select item 444409	NM_000088.4(COL1A1):c.4005+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +11 more	GUncertain significance
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +9 more	GUncertain significance
Select item 478914	NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	COL1A1 (G1166fs)	Deletion (frameshift variant)	not provided +8 more	GPathogenic
Select item 161457	NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	COL1A1 (R1093C)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +9 more	GUncertain significance
Select item 197496	NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +13 more	GBenign/Likely benign
Select item 324102	NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	COL1A1 (V1078A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 324103	NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)	COL1A1 (V1057I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GConflicting classifications of pathogenicity
Select item 35920	NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	COL1A1 (R1026*)	Single nucleotide variant (nonsense)	Abnormality of the skeletal system +10 more	GPathogenic
Select item 17347	NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	COL1A1 (R1014C)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 456752	NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	COL1A1 (A868T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 447141	NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	COL1A1 (G788S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 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 254947	NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +11 more	GBenign
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +9 more	GLikely benign
Select item 287320	NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	COL1A1 (R697*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 517702	NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +10 more	GConflicting classifications of pathogenicity
Select item 425580	NM_000088.4(COL1A1):c.1821+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +9 more	GPathogenic
Select item 286349	NM_000088.4(COL1A1):c.1821C>T (p.Val607=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +12 more	GBenign/Likely benign
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 388459	NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)	COL1A1 (P459T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GConflicting classifications of pathogenicity
Select item 235542	NM_000088.4(COL1A1):c.1300-8C>G	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +11 more	GBenign
Select item 425599	NM_000088.4(COL1A1):c.1299+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic
Select item 425597	NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	COL1A1 (R415*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +8 more	GConflicting classifications of pathogenicity
Select item 566740	NM_000088.4(COL1A1):c.1200+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 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 456729	NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)	COL1A1 (A390T)	Single nucleotide variant (missense variant)	not provided +11 more	GBenign/Likely benign
Select item 421361	NM_000088.4(COL1A1):c.1056+12dup	COL1A1	Duplication (intron variant)	Osteogenesis imperfecta type I +8 more	GBenign/Likely benign
Select item 17312	NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	COL1A1 (G332R)	Single nucleotide variant (missense variant)	COL1A1-related disorder +9 more	GPathogenic
Select item 450546	NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	COL1A1 (G329R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GPathogenic/Likely pathogenic
Select item 17343	NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	COL1A1 (R312C)	Single nucleotide variant (missense variant)	Joint hypermobility +12 more	GPathogenic/Likely pathogenic
Select item 425639	NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	COL1A1, LOC126862586 (G257R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +10 more	GPathogenic
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 380457	NM_000088.4(COL1A1):c.588+16G>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)	Osteogenesis imperfecta type I +8 more	GPathogenic
Select item 811535	NM_000088.4(COL1A1):c.104-441G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +9 more	GBenign/Likely benign

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Items: 37