LOC126862586[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 526878	NC_000017.10:g.(?_48262843)_(48277749_?)dup	LOC130061153, COL1A1 +2 more	Duplication	Osteogenesis imperfecta type I	GUncertain significance
Select item 526879	NC_000017.10:g.(?_48264825)_(48278894_?)dup	LOC130061153, LOC130061154 +3 more	Duplication	Osteogenesis imperfecta type I	GUncertain significance
Select item 456721	NC_000017.10:g.(?_48264825)_(48280990_?)dup	COL1A1, LOC126862586 +3 more	Duplication	Osteogenesis imperfecta type I	GUncertain significance
Select item 456722	NC_000017.10:g.(?_48271508)_(48278605_?)dup	COL1A1, LOC126862586 +3 more	Duplication	Osteogenesis imperfecta type I	GPathogenic
Select item 2822727	NM_000088.4(COL1A1):c.930_931del (p.Gly311fs)	COL1A1, LOC126862586 (G311fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 583231	NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs)	COL1A1, LOC126862586	Indel	Osteogenesis imperfecta type I	GPathogenic
Select item 2839195	NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter)	COL1A1, LOC126862586 (E309*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 1147202	NM_000088.4(COL1A1):c.918G>T (p.Leu306=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 1701985	NM_000088.4(COL1A1):c.916_917del (p.Leu306fs)	LOC126862586, COL1A1 (L306fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1432099	NM_000088.4(COL1A1):c.913G>A (p.Gly305Ser)	COL1A1, LOC126862586 (G305S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1409814	NM_000088.4(COL1A1):c.910del (p.Arg304fs)	COL1A1, LOC126862586 (R304fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 636592	NM_000088.4(COL1A1):c.910C>T (p.Arg304Cys)	COL1A1, LOC126862586 (R304C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049020	NM_000088.4(COL1A1):c.904G>C (p.Gly302Arg)	COL1A1, LOC126862586 (G302R)	Single nucleotide variant (missense variant)	COL1A1-related disorder	GLikely pathogenic
Select item 1701984	NM_000088.4(COL1A1):c.904-1G>T	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 976104	NM_000088.4(COL1A1):c.904-1G>C	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1431141	NM_000088.4(COL1A1):c.904-9G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 35930	NM_000088.4(COL1A1):c.904-9G>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 2138078	NM_000088.4(COL1A1):c.904-10T>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1962270	NM_000088.4(COL1A1):c.904-17C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1944103	NM_000088.4(COL1A1):c.904-17C>G	LOC126862586, COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2683437	NM_000088.4(COL1A1):c.904-25T>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 681133	NM_000088.4(COL1A1):c.903+29G>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766014	NM_000088.4(COL1A1):c.903+16del	COL1A1, LOC126862586	Deletion (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1980691	NM_000088.4(COL1A1):c.903+12C>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2078988	NM_000088.4(COL1A1):c.903+11C>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2714511	NM_000088.4(COL1A1):c.903+9G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 640702	NM_000088.4(COL1A1):c.903+3G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 646618	NM_000088.4(COL1A1):c.903+2T>A	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2121338	NM_000088.4(COL1A1):c.903+1G>T	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2102724	NM_000088.4(COL1A1):c.903+1del	COL1A1, LOC126862586	Deletion (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 456799	NM_000088.4(COL1A1):c.903+1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2847096	NM_000088.4(COL1A1):c.900G>T (p.Gln300His)	COL1A1, LOC126862586 (Q300H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3338861	NM_000088.4(COL1A1):c.896G>A (p.Gly299Asp)	COL1A1, LOC126862586 (G299D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 282768	NM_000088.4(COL1A1):c.896del (p.Gly299fs)	COL1A1, LOC126862586 (G299fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2887333	NM_000088.4(COL1A1):c.894T>C (p.Pro298=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2823014	NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr)	COL1A1, LOC126862586 (A297T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1685270	NM_000088.4(COL1A1):c.887G>T (p.Gly296Val)	COL1A1, LOC126862586 (G296V)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis	GLikely pathogenic
Select item 590992	NM_000088.4(COL1A1):c.887G>C (p.Gly296Ala)	COL1A1, LOC126862586 (G296A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 2102018	NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg)	COL1A1, LOC126862586 (G296R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2917400	NM_000088.4(COL1A1):c.885T>A (p.Asn295Lys)	COL1A1, LOC126862586 (N295K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1686579	NM_000088.4(COL1A1):c.884A>G (p.Asn295Ser)	COL1A1, LOC126862586 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2033142	NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter)	COL1A1, LOC126862586 (E294*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 1366736	NM_000088.4(COL1A1):c.878del (p.Gly293fs)	COL1A1, LOC126862586 (G293fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 618570	NM_000088.4(COL1A1):c.878G>A (p.Gly293Asp)	COL1A1, LOC126862586 (G293D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3366886	NM_000088.4(COL1A1):c.877G>C (p.Gly293Arg)	COL1A1, LOC126862586 (G293R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1764614	NM_000088.4(COL1A1):c.876T>C (p.Pro292=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1442028	NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser)	COL1A1, LOC126862586 (P292S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 447148	NM_000088.4(COL1A1):c.868G>C (p.Gly290Arg)	COL1A1, LOC126862586 (G290R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 393200	NM_000088.4(COL1A1):c.865C>T (p.Pro289Ser)	COL1A1, LOC126862586 (P289S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702181	NM_000088.4(COL1A1):c.864G>T (p.Glu288Asp)	COL1A1, LOC126862586 (E288D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
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 456798	NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter)	COL1A1, LOC126862586 (E288*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2102019	NM_000088.4(COL1A1):c.861T>A (p.Gly287=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1452080	NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)	COL1A1, LOC126862586 (G287S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic/Likely pathogenic
Select item 1192734	NM_000088.4(COL1A1):c.859-1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 857877	NM_000088.4(COL1A1):c.859-2A>G	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1558340	NM_000088.4(COL1A1):c.859-5T>C	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 254951	NM_000088.4(COL1A1):c.859-14T>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +5 more	GBenign
Select item 447147	NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT	COL1A1, LOC126862586	Indel (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1166267	NM_000088.4(COL1A1):c.858+24G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GBenign
Select item 2082199	NM_000088.4(COL1A1):c.858+20T>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GBenign
Select item 1622363	NM_000088.4(COL1A1):c.858+18C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1611950	NM_000088.4(COL1A1):c.858+17A>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1702180	NM_000088.4(COL1A1):c.858+7G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 2869165	NM_000088.4(COL1A1):c.858+4A>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2138079	NM_000088.4(COL1A1):c.858+1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 762098	NM_000088.4(COL1A1):c.855T>C (p.Pro285=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 566008	NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala)	COL1A1, LOC126862586 (P285A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2079492	NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)	COL1A1, LOC126862586 (G284D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 425640	NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala)	COL1A1, LOC126862586 (G284A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 568004	NM_000088.4(COL1A1):c.841_848del (p.Gly281fs)	COL1A1, LOC126862586 (G281fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425590	NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser)	COL1A1, LOC126862586 (G281S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1702179	NM_000088.4(COL1A1):c.839C>A (p.Ala280Asp)	COL1A1, LOC126862586 (A280D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1676228	NM_000088.4(COL1A1):c.835_836delinsTCCTGCTGGTCC (p.Asp279fs)	COL1A1, LOC126862586 (D279fs)	Indel (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 838613	NM_000088.4(COL1A1):c.835G>A (p.Asp279Asn)	COL1A1, LOC126862586 (D279N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 838007	NM_000088.4(COL1A1):c.833_834delinsTT (p.Gly278Val)	COL1A1, LOC126862586 (G278V)	Indel (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3383401	NM_000088.4(COL1A1):c.824G>T (p.Gly275Val)	COL1A1, LOC126862586 (G275V)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 17284	NM_000088.4(COL1A1):c.824G>A (p.Gly275Asp)	COL1A1, LOC126862586 (G275D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 665914	NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys)	COL1A1, LOC126862586 (G275C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1071489	NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser)	COL1A1, LOC126862586 (G272S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 17285	NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)	COL1A1, LOC126862586 (G272C)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +1 more	GPathogenic
Select item 447146	NM_000088.4(COL1A1):c.805-36_810del	COL1A1, LOC126862586	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1996639	NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp)	COL1A1, LOC126862586 (G269D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1803788	NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)	LOC126862586, COL1A1 (G269A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 526863	NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg)	LOC126862586, COL1A1 (G269R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 35929	NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser)	COL1A1, LOC126862586 (G269S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 1510875	NM_000088.4(COL1A1):c.805-1G>C	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 800488	NM_000088.4(COL1A1):c.805-1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1156044	NM_000088.4(COL1A1):c.805-10C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1945773	NM_000088.4(COL1A1):c.805-14C>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 679877	NM_000088.4(COL1A1):c.804+103G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674977	NM_000088.4(COL1A1):c.804+80A>C	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674976	NM_000088.4(COL1A1):c.804+62A>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2709432	NM_000088.4(COL1A1):c.804+20T>C	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1561542	NM_000088.4(COL1A1):c.804+18C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign

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