ClinVar for MedGen (Select 356497) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24198901.	NM_130468.4(CHST14):c.516C>T (p.Val172=) GRCh37: Chr15:40763928 GRCh38: Chr15:40471729	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 24135152.	NM_130468.4(CHST14):c.651A>G (p.Glu217=) GRCh37: Chr15:40764063 GRCh38: Chr15:40471864	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 22009143.	NM_130468.4(CHST14):c.948A>G (p.Pro316=) GRCh37: Chr15:40764360 GRCh38: Chr15:40472161	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 21980084.	NM_130468.4(CHST14):c.382G>C (p.Asp128His) GRCh37: Chr15:40763794 GRCh38: Chr15:40471595	CHST14	D128H	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 21959755.	NM_130468.4(CHST14):c.536G>A (p.Arg179His) GRCh37: Chr15:40763948 GRCh38: Chr15:40471749	CHST14	R179H	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 21945156.	NM_130468.4(CHST14):c.999C>T (p.Pro333=) GRCh37: Chr15:40764411 GRCh38: Chr15:40472212	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 21907577.	NM_130468.4(CHST14):c.299C>T (p.Ala100Val) GRCh37: Chr15:40763711 GRCh38: Chr15:40471512	CHST14	A100V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 21869558.	NM_130468.4(CHST14):c.513C>T (p.Gly171=) GRCh37: Chr15:40763925 GRCh38: Chr15:40471726	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 21555919.	NM_130468.4(CHST14):c.228C>A (p.Pro76=) GRCh37: Chr15:40763640 GRCh38: Chr15:40471441	CHST14		Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Likely benign (May 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 209231010.	NM_130468.4(CHST14):c.629T>C (p.Leu210Pro) GRCh37: Chr15:40764041 GRCh38: Chr15:40471842	CHST14	L210P	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 208631411.	NM_130468.4(CHST14):c.1038C>T (p.Ala346=) GRCh37: Chr15:40764450 GRCh38: Chr15:40472251	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 208622512.	NM_130468.4(CHST14):c.1016A>G (p.His339Arg) GRCh37: Chr15:40764428 GRCh38: Chr15:40472229	CHST14	H339R	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 205635113.	NM_130468.4(CHST14):c.155C>T (p.Ala52Val) GRCh37: Chr15:40763567 GRCh38: Chr15:40471368	CHST14	A52V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 200423214.	NM_130468.4(CHST14):c.2T>C (p.Met1Thr) GRCh37: Chr15:40763414 GRCh38: Chr15:40471215	CHST14	M1T	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 197128315.	NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs) GRCh37: Chr15:40764088-40764094 GRCh38: Chr15:40471889-40471895	CHST14	K226fs	Ehlers-Danlos syndrome, musculocontractural type	Pathogenic (Jul 16, 2022)	criteria provided, single submitter
Select item 196890816.	NM_130468.4(CHST14):c.202A>G (p.Met68Val) GRCh37: Chr15:40763614 GRCh38: Chr15:40471415	CHST14	M68V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 196298717.	NM_130468.4(CHST14):c.111G>T (p.Pro37=) GRCh37: Chr15:40763523 GRCh38: Chr15:40471324	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 195933118.	NM_130468.4(CHST14):c.935G>T (p.Trp312Leu) GRCh37: Chr15:40764347 GRCh38: Chr15:40472148	CHST14	W312L	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 195762219.	NM_130468.4(CHST14):c.65T>C (p.Leu22Pro) GRCh37: Chr15:40763477 GRCh38: Chr15:40471278	CHST14	L22P	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 195621320.	NM_130468.4(CHST14):c.135G>C (p.Leu45=) GRCh37: Chr15:40763547 GRCh38: Chr15:40471348	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 195221121.	NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile) GRCh37: Chr15:40764416 GRCh38: Chr15:40472217	CHST14	S335I	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 194985722.	NM_130468.4(CHST14):c.264del (p.Lys89fs) GRCh37: Chr15:40763672 GRCh38: Chr15:40471473	CHST14	K89fs	Ehlers-Danlos syndrome, musculocontractural type	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 193759823.	NM_130468.4(CHST14):c.486G>A (p.Trp162Ter) GRCh37: Chr15:40763898 GRCh38: Chr15:40471699	CHST14	W162*	Ehlers-Danlos syndrome, musculocontractural type	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 193272524.	NM_130468.4(CHST14):c.693A>T (p.Arg231=) GRCh37: Chr15:40764105 GRCh38: Chr15:40471906	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 177669925.	NM_130468.4(CHST14):c.104G>C (p.Gly35Ala) GRCh37: Chr15:40763516 GRCh38: Chr15:40471317	CHST14	G35A	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174396426.	NM_130468.4(CHST14):c.48G>A (p.Glu16=) GRCh37: Chr15:40763460 GRCh38: Chr15:40471261	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173933527.	NM_130468.4(CHST14):c.427G>A (p.Val143Ile) GRCh37: Chr15:40763839 GRCh38: Chr15:40471640	CHST14	V143I	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167406528.	NM_130468.4(CHST14):c.117G>A (p.Leu39=) GRCh37: Chr15:40763529 GRCh38: Chr15:40471330	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jan 27, 2021)	criteria provided, single submitter
Select item 167127729.	NM_130468.4(CHST14):c.580C>T (p.Leu194=) GRCh37: Chr15:40763992 GRCh38: Chr15:40471793	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 14, 2021)	criteria provided, single submitter
Select item 164340330.	NM_130468.4(CHST14):c.180C>T (p.Ile60=) GRCh37: Chr15:40763592 GRCh38: Chr15:40471393	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 162261531.	NM_130468.4(CHST14):c.993C>A (p.Ala331=) GRCh37: Chr15:40764405 GRCh38: Chr15:40472206	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Benign/Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162198532.	NM_130468.4(CHST14):c.255G>A (p.Gly85=) GRCh37: Chr15:40763667 GRCh38: Chr15:40471468	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159699733.	NM_130468.4(CHST14):c.114C>G (p.Pro38=) GRCh37: Chr15:40763526 GRCh38: Chr15:40471327	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 23, 2021)	criteria provided, single submitter
Select item 159225934.	NM_130468.4(CHST14):c.303C>T (p.Asp101=) GRCh37: Chr15:40763715 GRCh38: Chr15:40471516	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 158658035.	NM_130468.4(CHST14):c.1086T>C (p.Phe362=) GRCh37: Chr15:40764498 GRCh38: Chr15:40472299	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 158288636.	NM_130468.4(CHST14):c.409C>T (p.Leu137=) GRCh37: Chr15:40763821 GRCh38: Chr15:40471622	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Nov 20, 2021)	criteria provided, single submitter
Select item 155640237.	NM_130468.4(CHST14):c.111G>C (p.Pro37=) GRCh37: Chr15:40763523 GRCh38: Chr15:40471324	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154262938.	NM_130468.4(CHST14):c.99G>A (p.Gly33=) GRCh37: Chr15:40763511 GRCh38: Chr15:40471312	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 152124639.	NM_130468.4(CHST14):c.501G>C (p.Lys167Asn) GRCh37: Chr15:40763913 GRCh38: Chr15:40471714	CHST14	K167N	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 151640640.	NM_130468.4(CHST14):c.401G>A (p.Arg134Gln) GRCh37: Chr15:40763813 GRCh38: Chr15:40471614	CHST14	R134Q	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 151069041.	NM_130468.4(CHST14):c.151G>A (p.Val51Met) GRCh37: Chr15:40763563 GRCh38: Chr15:40471364	CHST14	V51M	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 150136442.	NM_130468.4(CHST14):c.732G>C (p.Arg244=) GRCh37: Chr15:40764144 GRCh38: Chr15:40471945	CHST14		Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Likely benign (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149886043.	NM_130468.4(CHST14):c.467A>G (p.Lys156Arg) GRCh37: Chr15:40763879 GRCh38: Chr15:40471680	CHST14	K156R	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 149316544.	NM_130468.4(CHST14):c.245C>G (p.Ala82Gly) GRCh37: Chr15:40763657 GRCh38: Chr15:40471458	CHST14	A82G	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 149216145.	NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) GRCh37: Chr15:40764529 GRCh38: Chr15:40472330	CHST14	A373S	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 148221746.	NM_130468.4(CHST14):c.871G>A (p.Val291Met) GRCh37: Chr15:40764283 GRCh38: Chr15:40472084	CHST14	V291M	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 147354547.	NM_130468.4(CHST14):c.861G>A (p.Gln287=) GRCh37: Chr15:40764273 GRCh38: Chr15:40472074	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147137048.	NM_130468.4(CHST14):c.763G>C (p.Gly255Arg) GRCh37: Chr15:40764175 GRCh38: Chr15:40471976	CHST14	G255R	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 147041649.	NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) GRCh37: Chr15:40763432 GRCh38: Chr15:40471233	CHST14	T7N	Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome, musculocontractural type 1	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146851250.	NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) GRCh37: Chr15:40763705 GRCh38: Chr15:40471506	CHST14	G98E	Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144967951.	NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) GRCh37: Chr15:40764334 GRCh38: Chr15:40472135	CHST14	Q308K	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144582452.	NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) GRCh37: Chr15:40764345 GRCh38: Chr15:40472146	CHST14	E311D	Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome, musculocontractural type 1, Cardiovascular phenotype	Uncertain significance (Dec 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143978653.	NM_130468.4(CHST14):c.642G>C (p.Glu214Asp) GRCh37: Chr15:40764054 GRCh38: Chr15:40471855	CHST14	E214D	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 143804454.	NC_000015.9:g.(?_40763403)_(40764553_?)dup GRCh37: Chr15:40763403-40764553	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 143542555.	NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) GRCh37: Chr15:40763737 GRCh38: Chr15:40471538	CHST14	R109W	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143210456.	NM_130468.4(CHST14):c.977C>T (p.Ala326Val) GRCh37: Chr15:40764389 GRCh38: Chr15:40472190	CHST14	A326V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 142800257.	NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) GRCh37: Chr15:40764331 GRCh38: Chr15:40472132	CHST14	N307D	Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142337958.	NM_130468.4(CHST14):c.704A>G (p.Gln235Arg) GRCh37: Chr15:40764116 GRCh38: Chr15:40471917	CHST14	Q235R	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 142027359.	NM_130468.4(CHST14):c.448C>G (p.Leu150Val) GRCh37: Chr15:40763860 GRCh38: Chr15:40471661	CHST14	L150V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 141267460.	NC_000015.9:g.(?_40763413)_(40764543_?)dup GRCh37: Chr15:40763413-40764543	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (May 28, 2021)	criteria provided, single submitter
Select item 141192961.	NM_130468.4(CHST14):c.692G>A (p.Arg231Gln) GRCh37: Chr15:40764104 GRCh38: Chr15:40471905	CHST14	R231Q	Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141187062.	NM_130468.4(CHST14):c.378C>G (p.Pro126=) GRCh37: Chr15:40763790 GRCh38: Chr15:40471591	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 139936863.	NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) GRCh37: Chr15:40764098 GRCh38: Chr15:40471899	CHST14	E229G	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138591664.	NM_130468.4(CHST14):c.43G>C (p.Ala15Pro) GRCh37: Chr15:40763455 GRCh38: Chr15:40471256	CHST14	A15P	Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135988665.	NM_130468.4(CHST14):c.8C>T (p.Pro3Leu) GRCh37: Chr15:40763420 GRCh38: Chr15:40471221	CHST14	P3L	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135228866.	NM_130468.4(CHST14):c.536G>C (p.Arg179Pro) GRCh37: Chr15:40763948 GRCh38: Chr15:40471749	CHST14	R179P	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 119074967.	NM_130468.4(CHST14):c.156_166del (p.Ser53fs) GRCh37: Chr15:40763565-40763575 GRCh38: Chr15:40471366-40471376	CHST14	S53fs	not provided, Ehlers-Danlos syndrome, musculocontractural type	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116631868.	NM_130468.4(CHST14):c.210C>T (p.Pro70=) GRCh37: Chr15:40763622 GRCh38: Chr15:40471423	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Benign/Likely benign (Feb 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 115948069.	NM_130468.4(CHST14):c.978C>T (p.Ala326=) GRCh37: Chr15:40764390 GRCh38: Chr15:40472191	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jan 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 114837270.	NM_130468.4(CHST14):c.984C>T (p.Tyr328=) GRCh37: Chr15:40764396 GRCh38: Chr15:40472197	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Dec 11, 2019)	criteria provided, single submitter
Select item 114504971.	NM_130468.4(CHST14):c.822C>G (p.Arg274=) GRCh37: Chr15:40764234 GRCh38: Chr15:40472035	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 114194272.	NM_130468.4(CHST14):c.189C>T (p.Gly63=) GRCh37: Chr15:40763601 GRCh38: Chr15:40471402	CHST14		Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Likely benign (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113969773.	NM_130468.4(CHST14):c.45C>G (p.Ala15=) GRCh37: Chr15:40763457 GRCh38: Chr15:40471258	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Feb 5, 2020)	criteria provided, single submitter
Select item 113764574.	NM_130468.4(CHST14):c.58C>T (p.Arg20Trp) GRCh37: Chr15:40763470 GRCh38: Chr15:40471271	CHST14	R20W	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113322875.	NM_130468.4(CHST14):c.462C>T (p.Val154=) GRCh37: Chr15:40763874 GRCh38: Chr15:40471675	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 112815076.	NM_130468.4(CHST14):c.801G>C (p.Leu267=) GRCh37: Chr15:40764213 GRCh38: Chr15:40472014	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 112316377.	NM_130468.4(CHST14):c.609G>T (p.Leu203=) GRCh37: Chr15:40764021 GRCh38: Chr15:40471822	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Aug 15, 2020)	criteria provided, single submitter
Select item 110630878.	NM_130468.4(CHST14):c.843C>T (p.Pro281=) GRCh37: Chr15:40764255 GRCh38: Chr15:40472056	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109110579.	NM_130468.4(CHST14):c.297C>T (p.Asp99=) GRCh37: Chr15:40763709 GRCh38: Chr15:40471510	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 108524680.	NM_130468.4(CHST14):c.1101T>C (p.Pro367=) GRCh37: Chr15:40764513 GRCh38: Chr15:40472314	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 107741781.	NM_130468.4(CHST14):c.642G>A (p.Glu214=) GRCh37: Chr15:40764054 GRCh38: Chr15:40471855	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Jul 3, 2020)	criteria provided, single submitter
Select item 107179882.	NM_130468.4(CHST14):c.171del (p.Leu58fs) GRCh37: Chr15:40763583 GRCh38: Chr15:40471384	CHST14	L58fs	Ehlers-Danlos syndrome, musculocontractural type	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 106422883.	NM_130468.4(CHST14):c.283C>T (p.Leu95Phe) GRCh37: Chr15:40763695 GRCh38: Chr15:40471496	CHST14	L95F	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 104624084.	NM_130468.4(CHST14):c.612G>T (p.Gln204His) GRCh37: Chr15:40764024 GRCh38: Chr15:40471825	CHST14	Q204H	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 104534185.	NM_130468.4(CHST14):c.32C>T (p.Ala11Val) GRCh37: Chr15:40763444 GRCh38: Chr15:40471245	CHST14	A11V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 104210886.	NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) GRCh37: Chr15:40763707 GRCh38: Chr15:40471508	CHST14	D99N	Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome, musculocontractural type 1	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102631587.	NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) GRCh37: Chr15:40764004 GRCh38: Chr15:40471805	CHST14	E198K	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 101796488.	NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) GRCh37: Chr15:40763585 GRCh38: Chr15:40471386	CHST14	L58P	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 101425689.	NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) GRCh37: Chr15:40764099 GRCh38: Chr15:40471900	CHST14	E229D	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100439690.	NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) GRCh37: Chr15:40763423 GRCh38: Chr15:40471224	CHST14	R4P	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 98273391.	NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys) GRCh37: Chr15:40763870 GRCh38: Chr15:40471671	CHST14	Y153C	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97065192.	NM_130468.4(CHST14):c.138G>C (p.Met46Ile) GRCh37: Chr15:40763550 GRCh38: Chr15:40471351	CHST14	M46I	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 96988893.	NM_130468.4(CHST14):c.1010A>G (p.His337Arg) GRCh37: Chr15:40764422 GRCh38: Chr15:40472223	CHST14	H337R	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 96701894.	NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) GRCh37: Chr15:40763608 GRCh38: Chr15:40471409	CHST14	A66T	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 96273095.	NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) GRCh37: Chr15:40764080 GRCh38: Chr15:40471881	CHST14	Y223F	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 94353896.	NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) GRCh37: Chr15:40763919-40763920 GRCh38: Chr15:40471720-40471721	CHST14	A170S	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93876597.	NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) GRCh37: Chr15:40764097 GRCh38: Chr15:40471898	CHST14	E229K	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 86210698.	NM_130468.4(CHST14):c.628C>G (p.Leu210Val) GRCh37: Chr15:40764040 GRCh38: Chr15:40471841	CHST14	L210V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 86173699.	NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) GRCh37: Chr15:40764141 GRCh38: Chr15:40471942	CHST14	R243S	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 859068100.	NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) GRCh37: Chr15:40764155 GRCh38: Chr15:40471956	CHST14	G248A	Inborn genetic diseases, Ehlers-Danlos syndrome, musculocontractural type, not provided	Uncertain significance (Jul 12, 2023)	criteria provided, multiple submitters, no conflicts

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