ClinVar for MedGen (Select 75672) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25810491.	NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs) GRCh37: Chr1:12023596-12023597 GRCh38: Chr1:11963539-11963540	PLOD1	D372fs, D419fs	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic (Jul 3, 2023)	criteria provided, single submitter
Select item 25061752.	NM_000302.4(PLOD1):c.1585-2A>G GRCh37: Chr1:12026306 GRCh38: Chr1:11966249	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic (May 22, 2023)	criteria provided, single submitter
Select item 25009403.	NM_000302.4(PLOD1):c.975+2_975+3insTT GRCh37: Chr1:12018705-12018706 GRCh38: Chr1:11958648-11958649	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 24419834.	NM_000302.4(PLOD1):c.1756-13C>A GRCh37: Chr1:12030714 GRCh38: Chr1:11970657	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 13, 2021)	criteria provided, single submitter
Select item 24350865.	NM_000302.4(PLOD1):c.466+65C>A GRCh37: Chr1:12010642 GRCh38: Chr1:11950585	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Dec 24, 2020)	criteria provided, single submitter
Select item 24228366.	NC_000001.10:g.(?_11847760)_(12066770_?)dup GRCh37: Chr1:11847760-12066770	CLCN6, KIAA2013, MFN2, MTHFR, NPPA, NPPB, PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 24228357.	NC_000001.10:g.(?_12008013)_(12008144_?)del GRCh37: Chr1:12008013-12008144	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 24180428.	NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly) GRCh37: Chr1:12012737 GRCh38: Chr1:11952680	PLOD1	D175G, D222G	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 24134979.	NM_000302.4(PLOD1):c.1261dup (p.Ala421fs) GRCh37: Chr1:12024284-12024285 GRCh38: Chr1:11964227-11964228	PLOD1	A421fs, A468fs	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 220157710.	NM_000302.4(PLOD1):c.2028+17C>G GRCh37: Chr1:12033071 GRCh38: Chr1:11973014	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 220018311.	NM_000302.4(PLOD1):c.1756-15C>G GRCh37: Chr1:12030712 GRCh38: Chr1:11970655	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 219845512.	NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln) GRCh37: Chr1:12010443 GRCh38: Chr1:11950386	PLOD1	R111Q, R158Q	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 219530713.	NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=) GRCh37: Chr1:12033051 GRCh38: Chr1:11972994	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 219383714.	NM_000302.4(PLOD1):c.1202+13C>T GRCh37: Chr1:12023706 GRCh38: Chr1:11963649	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 219266315.	NM_000302.4(PLOD1):c.1203-13T>C GRCh37: Chr1:12024219 GRCh38: Chr1:11964162	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 218461316.	NM_000302.4(PLOD1):c.1903-20del GRCh37: Chr1:12032909 GRCh38: Chr1:11972852	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 218393817.	NM_000302.4(PLOD1):c.467-12A>G GRCh37: Chr1:12012668 GRCh38: Chr1:11952611	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 218186918.	NM_000302.4(PLOD1):c.1651-16T>A GRCh37: Chr1:12027028 GRCh38: Chr1:11966971	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 218162019.	NM_000302.4(PLOD1):c.828C>T (p.Ser276=) GRCh37: Chr1:12017985 GRCh38: Chr1:11957928	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 217895520.	NM_000302.4(PLOD1):c.510G>A (p.Glu170=) GRCh37: Chr1:12012723 GRCh38: Chr1:11952666	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 217257621.	NM_000302.4(PLOD1):c.742-13G>A GRCh37: Chr1:12017886 GRCh38: Chr1:11957829	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 217121222.	NM_000302.4(PLOD1):c.1470+12G>A GRCh37: Chr1:12024854 GRCh38: Chr1:11964797	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 217067123.	NM_000302.4(PLOD1):c.77-16C>T GRCh37: Chr1:12008017 GRCh38: Chr1:11947960	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216668924.	NM_000302.4(PLOD1):c.1289G>A (p.Arg430His) GRCh37: Chr1:12024318 GRCh38: Chr1:11964261	PLOD1	R430H, R477H	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 216227025.	NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu) GRCh37: Chr1:12034859 GRCh38: Chr1:11974802	PLOD1	D726E, D773E	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 215640826.	NM_000302.4(PLOD1):c.1908G>A (p.Gln636=) GRCh37: Chr1:12032934 GRCh38: Chr1:11972877	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 215007827.	NM_000302.4(PLOD1):c.76+15G>T GRCh37: Chr1:11994927 GRCh38: Chr1:11934870	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 214913328.	NM_000302.4(PLOD1):c.1550A>C (p.His517Pro) GRCh37: Chr1:12025616 GRCh38: Chr1:11965559	PLOD1	H517P, H564P	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 214002029.	NM_000302.4(PLOD1):c.1560C>T (p.Leu520=) GRCh37: Chr1:12025626 GRCh38: Chr1:11965569	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1, not specified	Likely benign (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213298830.	NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu) GRCh37: Chr1:12009885 GRCh38: Chr1:11949828	PLOD1	G122E, G75E	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 213240431.	NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val) GRCh37: Chr1:12024348 GRCh38: Chr1:11964291	PLOD1	G440V, G487V	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 212036832.	NM_000302.4(PLOD1):c.1756G>C (p.Asp586His) GRCh37: Chr1:12030727 GRCh38: Chr1:11970670	PLOD1	D633H, D586H	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211179533.	NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter) GRCh37: Chr1:12030784 GRCh38: Chr1:11970727	PLOD1	Q605, Q652	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 210862234.	NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter) GRCh37: Chr1:12024737 GRCh38: Chr1:11964680	PLOD1	Y455, Y502	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 210083935.	NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly) GRCh37: Chr1:11994898 GRCh38: Chr1:11934841	PLOD1	D21G	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209813736.	NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser) GRCh37: Chr1:12025556 GRCh38: Chr1:11965499	PLOD1	T497S, T544S	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 208929437.	NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter) GRCh37: Chr1:12027104 GRCh38: Chr1:11967047	PLOD1	E618, E571	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 208614538.	NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg) GRCh37: Chr1:12009951 GRCh38: Chr1:11949894	PLOD1	L97R, L144R	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 208600539.	NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg) GRCh37: Chr1:12012752 GRCh38: Chr1:11952695	PLOD1	Q180R, Q227R	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 207503440.	NM_000302.4(PLOD1):c.1098-13C>G GRCh37: Chr1:12023576 GRCh38: Chr1:11963519	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 207227141.	NM_000302.4(PLOD1):c.1097+17A>C GRCh37: Chr1:12020841 GRCh38: Chr1:11960784	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 206746542.	NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu) GRCh37: Chr1:12010539 GRCh38: Chr1:11950482	PLOD1	P190L, P143L	Inborn genetic diseases, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205806343.	NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys) GRCh37: Chr1:12020758 GRCh38: Chr1:11960701	PLOD1	Y391C, Y344C	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205776544.	NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser) GRCh37: Chr1:12030790 GRCh38: Chr1:11970733	PLOD1	G607S, G654S	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 205233345.	NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln) GRCh37: Chr1:12024835 GRCh38: Chr1:11964778	PLOD1	R488Q, R535Q	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 205145746.	NM_000302.4(PLOD1):c.340C>T (p.Leu114=) GRCh37: Chr1:12010451 GRCh38: Chr1:11950394	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 205123947.	NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly) GRCh37: Chr1:12030752 GRCh38: Chr1:11970695	PLOD1	E641G, E594G	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204970548.	NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro) GRCh37: Chr1:12027099 GRCh38: Chr1:11967042	PLOD1	L569P, L616P	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 204782749.	NM_000302.4(PLOD1):c.844-15C>T GRCh37: Chr1:12018558 GRCh38: Chr1:11958501	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 204612150.	NM_000302.4(PLOD1):c.1356A>T (p.Ser452=) GRCh37: Chr1:12024728 GRCh38: Chr1:11964671	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 204611951.	NM_000302.4(PLOD1):c.1347C>G (p.Pro449=) GRCh37: Chr1:12024719 GRCh38: Chr1:11964662	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 204527052.	NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr) GRCh37: Chr1:12034842 GRCh38: Chr1:11974785	PLOD1	A721T, A768T	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 204448053.	NM_000302.4(PLOD1):c.467-2A>G GRCh37: Chr1:12012678 GRCh38: Chr1:11952621	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 204123154.	NM_000302.4(PLOD1):c.1584+20A>G GRCh37: Chr1:12025670 GRCh38: Chr1:11965613	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 203996355.	NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys) GRCh37: Chr1:12012692 GRCh38: Chr1:11952635	PLOD1	Y207C, Y160C	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 203924556.	NM_000302.4(PLOD1):c.1471-20A>G GRCh37: Chr1:12025517 GRCh38: Chr1:11965460	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 203625857.	NM_000302.4(PLOD1):c.1305G>A (p.Val435=) GRCh37: Chr1:12024334 GRCh38: Chr1:11964277	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203507758.	NM_000302.4(PLOD1):c.844-12T>C GRCh37: Chr1:12018561 GRCh38: Chr1:11958504	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203406659.	NM_000302.4(PLOD1):c.861G>T (p.Thr287=) GRCh37: Chr1:12018590 GRCh38: Chr1:11958533	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 203161960.	NM_000302.4(PLOD1):c.873C>A (p.Gly291=) GRCh37: Chr1:12018602 GRCh38: Chr1:11958545	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 202857661.	NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=) GRCh37: Chr1:12034736 GRCh38: Chr1:11974679	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202802662.	NM_000302.4(PLOD1):c.1471-8C>G GRCh37: Chr1:12025529 GRCh38: Chr1:11965472	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202518563.	NM_000302.4(PLOD1):c.1756-13C>G GRCh37: Chr1:12030714 GRCh38: Chr1:11970657	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202107064.	NM_000302.4(PLOD1):c.609C>G (p.Arg203=) GRCh37: Chr1:12014916 GRCh38: Chr1:11954859	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 202060665.	NM_000302.4(PLOD1):c.1585-11A>T GRCh37: Chr1:12026297 GRCh38: Chr1:11966240	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201664566.	NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly) GRCh37: Chr1:12014920 GRCh38: Chr1:11954863	PLOD1	R205G, R252G	Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 200994567.	NM_000302.4(PLOD1):c.1866C>G (p.Pro622=) GRCh37: Chr1:12030837 GRCh38: Chr1:11970780	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200938668.	NM_000302.4(PLOD1):c.618C>A (p.Ile206=) GRCh37: Chr1:12014925 GRCh38: Chr1:11954868	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 200871169.	NM_000302.4(PLOD1):c.2028+12C>G GRCh37: Chr1:12033066 GRCh38: Chr1:11973009	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 200735270.	NM_000302.4(PLOD1):c.949C>G (p.His317Asp) GRCh37: Chr1:12018678 GRCh38: Chr1:11958621	PLOD1	H317D, H364D	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 199575871.	NM_000302.4(PLOD1):c.1578C>T (p.Asn526=) GRCh37: Chr1:12025644 GRCh38: Chr1:11965587	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 199416472.	NM_000302.4(PLOD1):c.976-7_976-2dup GRCh37: Chr1:12020690-12020691 GRCh38: Chr1:11960633-11960634	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 199405773.	NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val) GRCh37: Chr1:12027134 GRCh38: Chr1:11967077	PLOD1	L581V, L628V	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 199354674.	NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val) GRCh37: Chr1:12033022 GRCh38: Chr1:11972965	PLOD1	I666V, I713V	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 198412175.	NM_000302.4(PLOD1):c.280C>G (p.Leu94Val) GRCh37: Chr1:12009941 GRCh38: Chr1:11949884	PLOD1	L141V, L94V	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 198000676.	NM_000302.4(PLOD1):c.331del (p.Arg111fs) GRCh37: Chr1:12010439 GRCh38: Chr1:11950382	PLOD1	R158fs, R111fs	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 196479577.	NM_000302.4(PLOD1):c.742C>T (p.Leu248=) GRCh37: Chr1:12017899 GRCh38: Chr1:11957842	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 196094578.	NM_000302.4(PLOD1):c.96G>A (p.Thr32=) GRCh37: Chr1:12008052 GRCh38: Chr1:11947995	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 195889879.	NM_000302.4(PLOD1):c.1329-6C>T GRCh37: Chr1:12024695 GRCh38: Chr1:11964638	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 195778180.	NM_000302.4(PLOD1):c.1803C>T (p.Ile601=) GRCh37: Chr1:12030774 GRCh38: Chr1:11970717	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 195699881.	NM_000302.4(PLOD1):c.644-19T>C GRCh37: Chr1:12016955 GRCh38: Chr1:11956898	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 194562682.	NM_000302.4(PLOD1):c.1756-12G>T GRCh37: Chr1:12030715 GRCh38: Chr1:11970658	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 192192083.	NM_000302.4(PLOD1):c.303-13G>C GRCh37: Chr1:12010401 GRCh38: Chr1:11950344	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 192110484.	NM_000302.4(PLOD1):c.976-15C>A GRCh37: Chr1:12020688 GRCh38: Chr1:11960631	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 190177385.	NM_000302.4(PLOD1):c.855G>A (p.Leu285=) GRCh37: Chr1:12018584 GRCh38: Chr1:11958527	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 190149486.	NM_000302.4(PLOD1):c.351C>T (p.Phe117=) GRCh37: Chr1:12010462 GRCh38: Chr1:11950405	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 189584087.	NM_000302.4(PLOD1):c.417G>A (p.Glu139=) GRCh37: Chr1:12010528 GRCh38: Chr1:11950471	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 189581588.	NM_000302.4(PLOD1):c.25C>T (p.Leu9=) GRCh37: Chr1:11994861 GRCh38: Chr1:11934804	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 179430189.	NM_000302.4(PLOD1):c.264C>T (p.His88=) GRCh37: Chr1:12009925 GRCh38: Chr1:11949868	PLOD1		Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178047890.	NM_000302.4(PLOD1):c.1806C>G (p.His602Gln) GRCh37: Chr1:12030777 GRCh38: Chr1:11970720	PLOD1	H602Q, H649Q	Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177992291.	NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=) GRCh37: Chr1:12030750 GRCh38: Chr1:11970693	PLOD1		Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177960392.	NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys) GRCh37: Chr1:12030733 GRCh38: Chr1:11970676	PLOD1	R635C, R588C	Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177625893.	NM_000302.4(PLOD1):c.1605C>T (p.Ile535=) GRCh37: Chr1:12026328 GRCh38: Chr1:11966271	PLOD1		Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Jun 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175726794.	NM_000302.4(PLOD1):c.711G>A (p.Pro237=) GRCh37: Chr1:12017041 GRCh38: Chr1:11956984	PLOD1		Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174661795.	NM_000302.4(PLOD1):c.528C>T (p.Ser176=) GRCh37: Chr1:12012741 GRCh38: Chr1:11952684	PLOD1		Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173358196.	NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys) GRCh37: Chr1:12010475 GRCh38: Chr1:11950418	PLOD1	S122C, S169C	Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171459097.	NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro) GRCh37: Chr1:12034732 GRCh38: Chr1:11974675	PLOD1	R684P, R731P	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 170226298.	NM_000302.4(PLOD1):c.873C>T (p.Gly291=) GRCh37: Chr1:12018602 GRCh38: Chr1:11958545	PLOD1		Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 169381299.	NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) GRCh37: Chr1:12020732 GRCh38: Chr1:11960675	PLOD1	E335D, E382D	not provided, Ehlers-Danlos syndrome, kyphoscoliotic type 1	Uncertain significance (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1679508100.	NM_000302.4(PLOD1):c.77-3370G>A GRCh37: Chr1:12004663 GRCh38: Chr1:11944606	LOC112577486, PLOD1	R54Q	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely benign (Mar 7, 2022)	criteria provided, single submitter

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