"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1014 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417456	NC_000009.12:g.(?_134701171)_(134835204_?)del	COL5A1, LOC101448202 +1 more	Deletion	Ehlers-Danlos syndrome, classic type	GPathogenic
Select item 511173	NM_000093.5(COL5A1):c.4447-19T>C	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 2802713	NM_000093.5(COL5A1):c.4447-18G>A	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2699415	NM_000093.5(COL5A1):c.4447-17T>C	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2053951	NM_000093.5(COL5A1):c.4447-16C>T	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1078710	NM_000093.5(COL5A1):c.4447-10T>G	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 459694	NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)	COL5A1, LOC101448202 (G1483C)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 2911734	NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)	COL5A1, LOC101448202 (H1484Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 715227	NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 697586	NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type +2 more	GLikely benign
Select item 846084	NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)	LOC101448202, COL5A1 (G1489R)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic/Likely pathogenic
Select item 237004	NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 516607	NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 212981	NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)	COL5A1, LOC101448202 (G1492S)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic/Likely pathogenic
Select item 841468	NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del)	LOC101448202, COL5A1 (P1494del)	Microsatellite (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 835154	NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)	COL5A1, LOC101448202 (P1493S)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2795098	NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)	COL5A1, LOC101448202 (P1493L)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213053	NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu)	COL5A1, LOC101448202 (P1494L)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2913158	NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)	LOC101448202, COL5A1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 136900	NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome type 7A +5 more	GBenign
Select item 136899	NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 656056	NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly)	COL5A1, LOC101448202 (E1496G)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 409117	NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys)	COL5A1, LOC101448202 (E1499K)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2105266	NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2577162	NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 1017822	NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn)	COL5A1, LOC101448202 (D1502N)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2023189	NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 459695	NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys)	COL5A1, LOC101448202 (R1503C)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 459696	NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)	COL5A1, LOC101448202 (R1503H)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2830771	NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)	LOC101448202, COL5A1	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 701047	NM_000093.5(COL5A1):c.4518T>C (p.Pro1506=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1594883	NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 1062865	NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser)	COL5A1, LOC101448202 (P1508S)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213054	NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)	COL5A1, LOC101448202 (P1508T)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2738847	NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)	COL5A1, LOC101448202 (P1508L)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2010413	NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)	COL5A1, LOC101448202 (Q1509*)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 1321083	NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala)	COL5A1, LOC101448202 (S1512A)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 507841	NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 1017389	NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser)	LOC101448202, COL5A1 (G1513S)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 664381	NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs)	COL5A1, LOC101448202 (E1517fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2868982	NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)	COL5A1, LOC101448202 (E1517G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 573977	NM_000093.5(COL5A1):c.4554+1G>C	COL5A1, LOC101448202	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 212982	NM_000093.5(COL5A1):c.4554+5G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 2072449	NM_000093.5(COL5A1):c.4554+6T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1643412	NM_000093.5(COL5A1):c.4554+12G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2723391	NM_000093.5(COL5A1):c.4554+16C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3022050	NM_000093.5(COL5A1):c.4554+20T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2862544	NM_000093.5(COL5A1):c.4554+20T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2197918	NM_000093.5(COL5A1):c.4555-17T>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1587114	NM_000093.5(COL5A1):c.4555-11G>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 707740	NM_000093.5(COL5A1):c.4555-8C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 754911	NM_000093.5(COL5A1):c.4555-6T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 136901	NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 2000690	NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del)	COL5A1, LOC101448202	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 851542	NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)	COL5A1, LOC101448202 (P1523H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3016454	NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 583278	NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser)	COL5A1, LOC101448202 (G1525S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 212983	NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)	COL5A1, LOC101448202 (P1526L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1157420	NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1117832	NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2199628	NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)	COL5A1, LOC101448202 (P1529S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 380308	NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)	COL5A1, LOC101448202 (P1529H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1721346	NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)	COL5A1, LOC101448202 (P1530A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2105728	NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)	COL5A1, LOC101448202 (G1534fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 1468813	NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser)	COL5A1, LOC101448202 (P1532S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1081945	NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1320460	NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala)	COL5A1, LOC101448202 (P1533A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2814128	NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)	COL5A1, LOC101448202 (G1534fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 1406346	NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs)	COL5A1, LOC101448202 (P1536fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 459697	NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)	COL5A1, LOC101448202 (P1536L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1511805	NM_000093.5(COL5A1):c.4608+3G>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1127120	NM_000093.5(COL5A1):c.4608+7A>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2124258	NM_000093.5(COL5A1):c.4608+14A>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2416256	NM_000093.5(COL5A1):c.4608+18G>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1961661	NM_000093.5(COL5A1):c.4608+18G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2718219	NM_000093.5(COL5A1):c.4608+19C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 384660	NM_000093.5(COL5A1):c.4608+19C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 514846	NM_000093.5(COL5A1):c.4609-18G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1613635	NM_000093.5(COL5A1):c.4609-15C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2966843	NM_000093.5(COL5A1):c.4609-12CT[3]	COL5A1, LOC101448202	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1627737	NM_000093.5(COL5A1):c.4609-6C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1363748	NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg)	COL5A1, LOC101448202 (G1537R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 459699	NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr)	COL5A1, LOC101448202 (P1538T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 213055	NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)	LOC101448202, COL5A1 (P1538L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 459700	NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 759587	NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 847820	NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)	LOC101448202, COL5A1 (G1543fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2740759	NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2866889	NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)	COL5A1, LOC101448202 (S1548W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 212984	NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	COL5A1, LOC101448202 (S1548L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 2720847	NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1021113	NM_000093.5(COL5A1):c.4644+4A>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1090030	NM_000093.5(COL5A1):c.4644+10A>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1581767	NM_000093.5(COL5A1):c.4644+11T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 514850	NM_000093.5(COL5A1):c.4644+16C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2912486	NM_000093.5(COL5A1):c.4644+20G>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2863976	NM_000093.5(COL5A1):c.4645-17C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1537994	NM_000093.5(COL5A1):c.4645-16T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1401539	NM_000093.5(COL5A1):c.4645-10_4645-7del	COL5A1, LOC101448202	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2771460	NM_000093.5(COL5A1):c.4645-12C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign

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