ClinVar for Gene (Select 1277) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238781	NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs)	COL1A1 (P141fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3235187	NM_000088.4(COL1A1):c.3973T>A (p.Trp1325Arg)	COL1A1 (W1325R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type	GUncertain significance
Select item 3230274	NM_000088.4(COL1A1):c.60G>A (p.Thr20=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230273	NM_000088.4(COL1A1):c.48C>T (p.Thr16=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230272	NM_000088.4(COL1A1):c.45C>G (p.Ala15=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230270	NM_000088.4(COL1A1):c.3153T>C (p.Pro1051=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230269	NM_000088.4(COL1A1):c.3108T>C (p.Arg1036=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230268	NM_000088.4(COL1A1):c.2583C>A (p.Ala861=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230267	NM_000088.4(COL1A1):c.2409T>C (p.Gly803=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230266	NM_000088.4(COL1A1):c.1932T>C (p.Gly644=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230265	NM_000088.4(COL1A1):c.1717G>A (p.Ala573Thr)	COL1A1 (A573T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230264	NM_000088.4(COL1A1):c.1665C>G (p.Pro555=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230263	NM_000088.4(COL1A1):c.1563A>G (p.Gly521=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3220896	NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val)	COL1A1 (G959V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 3067896	NM_000088.4(COL1A1):c.1760G>C (p.Gly587Ala)	COL1A1 (G587A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3067759	NM_000088.4(COL1A1):c.2420C>A (p.Pro807His)	COL1A1 (P807H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067620	NM_000088.4(COL1A1):c.1346G>A (p.Gly449Glu)	COL1A1 (G449E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3066077	NM_000088.4(COL1A1):c.64= (p.Gly22=)	COL1A1	Variation (no sequence alteration)	Osteogenesis imperfecta type I +3 more	GPathogenic
Select item 3065937	NM_000088.4(COL1A1):c.3176dup (p.Ala1060fs)	COL1A1 (A1060fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3064974	NM_000088.4(COL1A1):c.751-2A>T	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3063531	GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3	COL1A1, PDK2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062269	NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)	COL1A1 (E1401*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +3 more	GLikely pathogenic
Select item 3061969	NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)	COL1A1 (G1448R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3061711	NM_000088.4(COL1A1):c.1544del (p.Gly515fs)	COL1A1 (G515fs)	Deletion (frameshift variant)	COL1A1-related disorder	GLikely pathogenic
Select item 3061542	NM_000088.4(COL1A1):c.3553_3555delinsACTCCTGGTCCC (p.Gly1184_Pro1185insThrProGly)	COL1A1	Indel (inframe_indel +1 more)	COL1A1-related disorder	GLikely pathogenic
Select item 3061211	NM_000088.4(COL1A1):c.3665del (p.Asn1222fs)	COL1A1 (N1222fs)	Deletion (frameshift variant)	COL1A1-related disorder	GLikely pathogenic
Select item 3061060	NM_000088.4(COL1A1):c.1155+6T>C	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GUncertain significance
Select item 3054541	NM_000088.4(COL1A1):c.958-27T>G	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GLikely benign
Select item 3054248	NM_000088.4(COL1A1):c.1300-4G>A	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GLikely benign
Select item 3051954	NM_000088.4(COL1A1):c.66C>T (p.Gly22=)	COL1A1	Single nucleotide variant (synonymous variant)	COL1A1-related disorder	GLikely benign
Select item 3051830	NM_000088.4(COL1A1):c.*244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3050994	NM_000088.4(COL1A1):c.1822-2del	COL1A1	Deletion (splice acceptor variant)	COL1A1-related disorder	GLikely pathogenic
Select item 3049935	NM_000088.4(COL1A1):c.241_244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3049923	NM_000088.4(COL1A1):c.*244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
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 3047733	NM_000088.4(COL1A1):c.240_244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3047560	NM_000088.4(COL1A1):c.1003-30T>C	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GLikely benign
Select item 3045768	NM_000088.4(COL1A1):c.4005+1del	COL1A1	Deletion (splice donor variant)	COL1A1-related disorder	GLikely pathogenic
Select item 3043537	NM_000088.4(COL1A1):c.4006-40G>A	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GLikely benign
Select item 3043164	NM_000088.4(COL1A1):c.242_244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3035193	NM_000088.4(COL1A1):c.243_244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3032238	NM_000088.4(COL1A1):c.-7T>C	COL1A1	Single nucleotide variant (5 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3032142	NM_000088.4(COL1A1):c.-9G>A	COL1A1	Single nucleotide variant (5 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3031637	NM_000088.4(COL1A1):c.-8G>C	COL1A1	Single nucleotide variant (5 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3031295	NM_000088.4(COL1A1):c.239_244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related disorder	GLikely benign
Select item 3031256	NM_000088.4(COL1A1):c.2397+9A>C	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GLikely benign
Select item 3030516	NM_000088.4(COL1A1):c.370-6C>G	COL1A1	Single nucleotide variant (intron variant)	COL1A1-related disorder	GLikely benign
Select item 3027333	NM_000088.4(COL1A1):c.117C>G (p.Thr39=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027024	NM_000088.4(COL1A1):c.1459C>A (p.Arg487Ser)	COL1A1 (R487S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025863	NM_000088.4(COL1A1):c.96C>G (p.Asp32Glu)	COL1A1 (D32E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025654	NM_000088.4(COL1A1):c.228C>A (p.Asp76Glu)	COL1A1 (D76E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023707	NM_000088.4(COL1A1):c.2680C>T (p.Pro894Ser)	COL1A1 (P894S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3022212	NM_000088.4(COL1A1):c.804+16del	COL1A1, LOC126862586	Deletion (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3020222	NM_000088.4(COL1A1):c.2937+15C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3019926	NM_000088.4(COL1A1):c.2159G>T (p.Ser720Ile)	COL1A1 (S720I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3019050	NM_000088.4(COL1A1):c.1983+17G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3018832	NM_000088.4(COL1A1):c.439C>T (p.Pro147Ser)	COL1A1 (P147S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3015077	NM_000088.4(COL1A1):c.2289T>C (p.Arg763=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3013667	NM_000088.4(COL1A1):c.1836A>T (p.Lys612Asn)	COL1A1 (K612N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3013307	NM_000088.4(COL1A1):c.4050C>G (p.Ile1350Met)	COL1A1 (I1350M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3013213	NM_000088.4(COL1A1):c.1289A>T (p.Lys430Met)	COL1A1 (K430M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3013022	NM_000088.4(COL1A1):c.1516-11C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3011608	NM_000088.4(COL1A1):c.310G>A (p.Asp104Asn)	COL1A1 (D104N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3011072	NM_000088.4(COL1A1):c.2127+17A>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3010870	NM_000088.4(COL1A1):c.2128-14T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3010194	NM_000088.4(COL1A1):c.2443_2444delinsC (p.Gly815fs)	COL1A1 (G815fs)	Indel (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3008346	NM_000088.4(COL1A1):c.3486T>A (p.Ile1162=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 3004633	NM_000088.4(COL1A1):c.3737G>A (p.Arg1246Gln)	COL1A1 (R1246Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GBenign
Select item 3002408	NM_000088.4(COL1A1):c.1487C>T (p.Pro496Leu)	COL1A1 (P496L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3000746	NM_000088.4(COL1A1):c.2185A>G (p.Met729Val)	COL1A1 (M729V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2993553	NM_000088.4(COL1A1):c.2031C>T (p.Gly677=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2990947	NM_000088.4(COL1A1):c.2980C>T (p.Arg994Cys)	COL1A1 (R994C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2987138	NM_000088.4(COL1A1):c.298+17G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2984974	NM_000088.4(COL1A1):c.2644C>A (p.Arg882=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2984275	NM_000088.4(COL1A1):c.3815G>A (p.Gly1272Glu)	COL1A1 (G1272E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2981496	NM_000088.4(COL1A1):c.201G>A (p.Lys67=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2981415	NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val)	COL1A1 (L480V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2979004	NM_000088.4(COL1A1):c.1983+20C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2976087	NM_000088.4(COL1A1):c.3481C>A (p.Pro1161Thr)	COL1A1 (P1161T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2970731	NM_000088.4(COL1A1):c.1462-14C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2967558	NM_000088.4(COL1A1):c.2361C>T (p.Ser787=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2965001	NM_000088.4(COL1A1):c.2668-11T>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2964052	NM_000088.4(COL1A1):c.3100-17C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2959870	NM_000088.4(COL1A1):c.1910C>A (p.Ala637Asp)	COL1A1 (A637D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2957493	NM_000088.4(COL1A1):c.2491G>A (p.Asp831Asn)	COL1A1 (D831N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2954656	NM_000088.4(COL1A1):c.2667+17G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2921137	NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920922	NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920092	NM_000088.4(COL1A1):c.2452-19G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2919688	NM_000088.4(COL1A1):c.1984-14T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2919356	NM_000088.4(COL1A1):c.2729G>A (p.Arg910His)	COL1A1 (R910H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2917639	NM_000088.4(COL1A1):c.3370-18T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2917465	NM_000088.4(COL1A1):c.3213T>C (p.Pro1071=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
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 2916895	NM_000088.4(COL1A1):c.1354-15C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2916474	NM_000088.4(COL1A1):c.354C>T (p.Gly118=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2916036	NM_000088.4(COL1A1):c.1354-4C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2915476	NM_000088.4(COL1A1):c.1984-12C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2915039	NM_000088.4(COL1A1):c.746C>A (p.Pro249His)	COL1A1, LOC126862586 (P249H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2914996	NM_000088.4(COL1A1):c.3369+16C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign

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