ClinVar for MedGen (Select 9799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370319	NM_000088.4(COL1A1):c.378del (p.Gly127fs)	COL1A1 (G127fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3366891	NM_000088.4(COL1A1):c.668dup (p.Gly224fs)	COL1A1 (G224fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3366890	NM_000088.4(COL1A1):c.1532del (p.Arg511fs)	COL1A1 (R511fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3366889	NM_000088.4(COL1A1):c.683del (p.Lys228fs)	COL1A1 (K228fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3366887	NM_000088.4(COL1A1):c.171del (p.Cys58fs)	COL1A1 (C58fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	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 3363165	NM_000088.4(COL1A1):c.370-2A>C	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3362885	NM_000088.4(COL1A1):c.1004G>C (p.Gly335Ala)	COL1A1 (G335A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3340087	NM_000088.4(COL1A1):c.2032G>T (p.Glu678Ter)	COL1A1 (E678*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3255129	NM_000088.4(COL1A1):c.543+1del	COL1A1	Deletion (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3252094	NM_000088.4(COL1A1):c.299-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3245693	NC_000007.13:g.(?_94028341)_(94030952_?)del	COL1A2	Deletion	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3245692	NC_000007.13:g.(?_94024344)_(94285410_?)del	CASD1, COL1A2 +1 more	Deletion	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3242842	NC_000017.10:g.(?_48268803)_(48269354_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3242841	NC_000017.10:g.(?_48274351)_(48274614_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3242840	NC_000017.10:g.(?_48275073)_(48278874_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3242839	NC_000017.10:g.(?_48276567)_(48278874_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
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 3235135	NM_000088.4(COL1A1):c.2532_2540del (p.844AGP[1])	COL1A1	Deletion (inframe_deletion)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3067896	NM_000088.4(COL1A1):c.1760G>C (p.Gly587Ala)	COL1A1 (G587A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3066077	NM_000088.4(COL1A1):c.64= (p.Gly22=)	COL1A1	Variation (no sequence alteration)	Osteogenesis imperfecta with normal sclerae, dominant form +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 3062269	NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)	COL1A1 (E1401*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GLikely pathogenic
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 2954461	NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)	COL1A2 (M93T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2954296	NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)	COL1A2 (G33V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2954292	NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)	COL1A2 (K1157E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953897	NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)	COL1A2 (A260T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953770	NM_000089.4(COL1A2):c.133-19C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953762	NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)	COL1A2 (N1274K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953761	NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)	COL1A2 (Q1207H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953730	NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953416	NM_000089.4(COL1A2):c.2998-18C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953269	NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)	COL1A2 (G685C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2953147	NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953083	NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)	COL1A2 (I1211M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953009	NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)	COL1A2 (Q1083H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2952919	NM_000089.4(COL1A2):c.2026-5A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952764	NM_000089.4(COL1A2):c.325-19C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952532	NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952503	NM_000089.4(COL1A2):c.70+8C>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952303	NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)	COL1A2 (P116S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2952293	NM_000089.4(COL1A2):c.541-9T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952262	NM_000089.4(COL1A2):c.855G>A (p.Val285=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952148	NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)	COL1A2 (V1245M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2952035	NM_000089.4(COL1A2):c.1350+13C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2951926	NM_000089.4(COL1A2):c.1351-9A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2951624	NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)	COL1A2 (G769S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2951485	NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)	COL1A2 (P1076H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2951396	NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	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 2951347	NM_000089.4(COL1A2):c.1765-2del	COL1A2	Deletion (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2951085	NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)	COL1A2 (G502D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2950900	NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)	COL1A2 (R1067L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950876	NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2950816	NM_000089.4(COL1A2):c.2188-6_2188-1dup	COL1A2	Duplication (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950794	NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)	COL1A2 (G109R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2950645	NM_000089.4(COL1A2):c.1090-18G>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2950629	NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)	COL1A2 (P138S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950522	NM_000089.4(COL1A2):c.2782-13G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950429	NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)	COL1A2 (D82G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950426	NM_000089.4(COL1A2):c.486+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2950227	NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)	COL1A2 (G298V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2950146	NM_000089.4(COL1A2):c.694-1G>C	COL1A2	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
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

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