1278[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	ASB4, BET1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 59647	GRCh38/hg38 7q21.3(chr7:94373041-94510143)x3	CASD1, COL1A2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 683354	NM_000089.3(COL1A2):c.-698C>A	COL1A2	Single nucleotide variant	not provided	GBenign
Select item 1253935	NC_000007.14:g.94394428del	COL1A2	Deletion	not provided	GBenign
Select item 360937	NM_000089.3(COL1A2):c.-428G>A	COL1A2	Single nucleotide variant	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 911702	NM_000089.3(COL1A2):c.-418G>A	COL1A2	Single nucleotide variant	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 911703	NM_000089.3(COL1A2):c.-397A>T	COL1A2	Single nucleotide variant	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 360938	NM_000089.3(COL1A2):c.-365A>G	COL1A2	Single nucleotide variant	Ehlers-danlos syndrome, arthrochalasia type, 2 +1 more	GUncertain significance
Select item 360939	NM_000089.3(COL1A2):c.-287C>T	COL1A2	Single nucleotide variant	Ehlers-danlos syndrome, arthrochalasia type, 2 +2 more	GBenign/Likely benign
Select item 908747	NM_000089.3(COL1A2):c.-264C>A	COL1A2	Single nucleotide variant	Ehlers-danlos syndrome, arthrochalasia type, 2 +1 more	GUncertain significance
Select item 908748	NM_000089.3(COL1A2):c.-204T>G	COL1A2	Single nucleotide variant	Ehlers-danlos syndrome, arthrochalasia type, 2 +1 more	GUncertain significance
Select item 908749	NM_000089.3(COL1A2):c.-194C>T	COL1A2	Single nucleotide variant	Ehlers-danlos syndrome, arthrochalasia type, 2 +1 more	GUncertain significance
Select item 360940	NM_000089.3(COL1A2):c.-188C>T	COL1A2	Single nucleotide variant	Ehlers-danlos syndrome, arthrochalasia type, 2 +1 more	GUncertain significance
Select item 909602	NM_000089.3(COL1A2):c.-152G>A	COL1A2	Single nucleotide variant	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 909603	NM_000089.3(COL1A2):c.-150G>C	COL1A2	Single nucleotide variant	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 360941	NM_000089.4(COL1A2):c.-87C>T	COL1A2	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 532801	NC_000007.14:g.(?_94395012)_(94656118_?)del	LOC129998824, LOC129998825 +5 more	Deletion	Myoclonic dystonia 11	GPathogenic
Select item 526903	NC_000007.14:g.(?_94395012)_(94395818_?)del	COL1A2	Deletion	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 456800	NC_000007.14:g.(?_94395012)_(94399104_?)del	COL1A2	Deletion	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 2571282	NM_000089.4(COL1A2):c.-5T>C	COL1A2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2928734	NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)	COL1A2 (M1L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2922796	NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)	COL1A2 (R8W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2931667	NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)	COL1A2 (L10W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2159411	NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)	COL1A2 (L11S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 799317	NM_000089.4(COL1A2):c.36G>C (p.Leu12=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 456841	NM_000089.4(COL1A2):c.48C>T (p.Thr16=)	COL1A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 456832	NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly)	COL1A2 (C18G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 1749730	NM_000089.4(COL1A2):c.57A>G (p.Leu19=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2183136	NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)	COL1A2 (A20T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 762753	NM_000089.4(COL1A2):c.60A>C (p.Ala20=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GLikely benign
Select item 3064039	NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)	COL1A2 (Q23*)	Single nucleotide variant (nonsense)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +4 more	Gnot provided
Select item 1418847	NM_000089.4(COL1A2):c.69A>G (p.Gln23=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 2952503	NM_000089.4(COL1A2):c.70+8C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 456842	NM_000089.4(COL1A2):c.70+8C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2682526	NM_000089.4(COL1A2):c.70+9C>T	COL1A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2951395	NM_000089.4(COL1A2):c.70+18G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 1239407	NM_000089.4(COL1A2):c.70+518A>G	COL1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196315	NM_000089.4(COL1A2):c.70+659G>T	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672687	NM_000089.4(COL1A2):c.70+674A>G	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 671158	NM_000089.4(COL1A2):c.70+719_70+720del	COL1A2	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 672688	NM_000089.4(COL1A2):c.70+804T>C	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207510	NM_000089.4(COL1A2):c.71-332T>C	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190242	NM_000089.4(COL1A2):c.71-250T>C	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204679	NM_000089.4(COL1A2):c.71-198A>T	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187242	NM_000089.4(COL1A2):c.71-162G>A	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639037	NM_000089.4(COL1A2):c.71-8_71-7dup	COL1A2	Duplication (intron variant)	Osteogenesis imperfecta type I +1 more	GBenign
Select item 516294	NM_000089.4(COL1A2):c.71-7dup	COL1A2	Duplication (intron variant)	Osteogenesis imperfecta type I +2 more	GBenign
Select item 195013	NM_000089.4(COL1A2):c.71-7del	COL1A2	Deletion (intron variant)	not specified +2 more	GBenign
Select item 2198871	NM_000089.4(COL1A2):c.71-11T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 1923145	NM_000089.4(COL1A2):c.71-10_71-9insC	COL1A2	Insertion (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 707323	NM_000089.4(COL1A2):c.71-7T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1702000	NM_000089.4(COL1A2):c.71-6C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance
Select item 930893	NM_000089.4(COL1A2):c.71-6C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 360942	NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys)	COL1A2 (S24C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +1 more	GUncertain significance
Select item 1353628	NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg)	COL1A2 (Q26R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1761103	NM_000089.4(COL1A2):c.78A>G (p.Gln26=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1920910	NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)	COL1A2 (E27K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1484907	NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp)	COL1A2 (E27D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 360943	NM_000089.4(COL1A2):c.81+8A>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +4 more	GConflicting classifications of pathogenicity
Select item 3031081	NM_000089.4(COL1A2):c.81+9A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition	GLikely benign
Select item 1544137	NM_000089.4(COL1A2):c.81+10A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition +2 more	GLikely benign
Select item 1130955	NM_000089.4(COL1A2):c.81+10A>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 35956	NM_000089.4(COL1A2):c.81+11del	COL1A2	Deletion (intron variant)	Osteogenesis imperfecta type I +4 more	GConflicting classifications of pathogenicity
Select item 2581303	NM_000089.4(COL1A2):c.81+12T>C	COL1A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1895786	NM_000089.4(COL1A2):c.81+12T>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 1599540	NM_000089.4(COL1A2):c.81+17_81+18del	COL1A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GBenign
Select item 1299778	NM_000089.4(COL1A2):c.81+15T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 1566227	NM_000089.4(COL1A2):c.81+18T>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 676713	NM_000089.4(COL1A2):c.81+102C>T	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204307	NM_000089.4(COL1A2):c.82-186C>T	COL1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275658	NM_000089.4(COL1A2):c.82-163T>C	COL1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2037883	NM_000089.4(COL1A2):c.82-17G>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 196206	NM_000089.4(COL1A2):c.82-12A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +5 more	GBenign
Select item 2949411	NM_000089.4(COL1A2):c.82-6T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1448625	NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys)	COL1A2 (E28K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 196205	NM_000089.4(COL1A2):c.87T>C (p.Thr29=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +5 more	GBenign
Select item 1585936	NM_000089.4(COL1A2):c.90A>G (p.Val30=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 388771	NM_000089.4(COL1A2):c.96+10C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +2 more	GBenign/Likely benign
Select item 547234	NM_000089.4(COL1A2):c.96+13T>C	COL1A2	Single nucleotide variant (intron variant)	Connective tissue disorder	GLikely benign
Select item 1966107	NM_000089.4(COL1A2):c.96+15C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2941130	NM_000089.4(COL1A2):c.96+20C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 672987	NM_000089.4(COL1A2):c.96+240del	COL1A2	Deletion (intron variant)	not provided	GLikely benign
Select item 1258302	NM_000089.4(COL1A2):c.96+249del	COL1A2	Deletion (intron variant)	not provided	GBenign
Select item 1656609	NM_000089.4(COL1A2):c.97-11C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2945002	NM_000089.4(COL1A2):c.97-7C>T	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition +2 more	GLikely benign
Select item 2939814	NM_000089.4(COL1A2):c.97-5T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2954296	NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)	COL1A2 (G33V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1702184	NM_000089.4(COL1A2):c.105C>T (p.Ala35=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1000701	NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg)	COL1A2 (G36R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2949774	NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)	COL1A2 (D37G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1699879	NM_000089.4(COL1A2):c.114A>C (p.Arg38Ser)	COL1A2 (R38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911772	NM_000089.4(COL1A2):c.114A>G (p.Arg38=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GConflicting classifications of pathogenicity
Select item 2566489	NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)	COL1A2 (G39R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1702185	NM_000089.4(COL1A2):c.118C>A (p.Pro40Thr)	COL1A2 (P40T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1502921	NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys)	COL1A2 (R41C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance

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