CHST14[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6833211.	NM_130468.3(CHST14):c.-571T>C GRCh37: Chr15:40762842 GRCh38: Chr15:40470643	CHST14		not provided	Benign (Jun 18, 2018)	criteria provided, single submitter
Select item 12461112.	Single allele GRCh37: Chr15:40762862 GRCh38: Chr15:40470663	CHST14		not provided	Benign (Jul 14, 2018)	criteria provided, single submitter
Select item 6729133.	NM_130468.3(CHST14):c.-534A>G GRCh37: Chr15:40762879 GRCh38: Chr15:40470680	CHST14		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 11876654.	NM_130468.4(CHST14):c.-185C>T GRCh37: Chr15:40763228 GRCh38: Chr15:40471029	CHST14		not provided	Likely benign (May 19, 2019)	criteria provided, single submitter
Select item 5115185.	NM_130468.4(CHST14):c.-27C>G GRCh37: Chr15:40763386 GRCh38: Chr15:40471187	CHST14		not specified	Likely benign (Aug 18, 2017)	criteria provided, single submitter
Select item 3905886.	NM_130468.4(CHST14):c.-5G>A GRCh37: Chr15:40763408 GRCh38: Chr15:40471209	CHST14		not specified	Likely benign (Nov 4, 2016)	criteria provided, single submitter
Select item 20042327.	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 13598868.	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 10043969.	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 147041610.	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 179071111.	NM_130468.4(CHST14):c.23C>T (p.Pro8Leu) GRCh37: Chr15:40763435 GRCh38: Chr15:40471236	CHST14	P8L	Cardiovascular phenotype	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 104534112.	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 173204813.	NM_130468.4(CHST14):c.34C>T (p.Pro12Ser) GRCh37: Chr15:40763446 GRCh38: Chr15:40471247	CHST14	P12S	Cardiovascular phenotype	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 173503414.	NM_130468.4(CHST14):c.37A>G (p.Asn13Asp) GRCh37: Chr15:40763449 GRCh38: Chr15:40471250	CHST14	N13D	Cardiovascular phenotype	Uncertain significance (Aug 27, 2020)	criteria provided, single submitter
Select item 174032015.	NM_130468.4(CHST14):c.43G>T (p.Ala15Ser) GRCh37: Chr15:40763455 GRCh38: Chr15:40471256	CHST14	A15S	Cardiovascular phenotype	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 138591616.	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 113969717.	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 131237818.	NM_130468.4(CHST14):c.46G>A (p.Glu16Lys) GRCh37: Chr15:40763458 GRCh38: Chr15:40471259	CHST14	E16K	not provided	Uncertain significance (Jan 17, 2020)	criteria provided, single submitter
Select item 174397419.	NM_130468.4(CHST14):c.48G>T (p.Glu16Asp) GRCh37: Chr15:40763460 GRCh38: Chr15:40471261	CHST14	E16D	Cardiovascular phenotype	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 174396420.	NM_130468.4(CHST14):c.48G>A (p.Glu16_Pro17=) 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 174466521.	NM_130468.4(CHST14):c.49C>T (p.Pro17Ser) GRCh37: Chr15:40763461 GRCh38: Chr15:40471262	CHST14	P17S	Cardiovascular phenotype	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 113764522.	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 175096823.	NM_130468.4(CHST14):c.59G>C (p.Arg20Pro) GRCh37: Chr15:40763471 GRCh38: Chr15:40471272	CHST14	R20P	Cardiovascular phenotype	Uncertain significance (May 24, 2021)	criteria provided, single submitter
Select item 175217824.	NM_130468.4(CHST14):c.61G>T (p.Ala21Ser) GRCh37: Chr15:40763473 GRCh38: Chr15:40471274	CHST14	A21S	Cardiovascular phenotype	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 103237725.	NM_130468.4(CHST14):c.61G>A (p.Ala21Thr) GRCh37: Chr15:40763473 GRCh38: Chr15:40471274	CHST14	A21T	Ehlers-Danlos syndrome, musculocontractural type 1	Uncertain significance (Jan 24, 2018)	criteria provided, single submitter
Select item 195762226.	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 175765927.	NM_130468.4(CHST14):c.71G>T (p.Arg24Leu) GRCh37: Chr15:40763483 GRCh38: Chr15:40471284	CHST14	R24L	Cardiovascular phenotype	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 175873728.	NM_130468.4(CHST14):c.73G>T (p.Ala25Ser) GRCh37: Chr15:40763485 GRCh38: Chr15:40471286	CHST14	A25S	Cardiovascular phenotype	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 28443029.	NM_130468.4(CHST14):c.74C>A (p.Ala25Asp) GRCh37: Chr15:40763486 GRCh38: Chr15:40471287	CHST14	A25D	not provided	Uncertain significance (Apr 18, 2017)	criteria provided, single submitter
Select item 65621430.	NM_130468.4(CHST14):c.77C>T (p.Pro26Leu) GRCh37: Chr15:40763489 GRCh38: Chr15:40471290	CHST14	P26L	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Oct 16, 2018)	criteria provided, single submitter
Select item 176717931.	NM_130468.4(CHST14):c.94G>C (p.Ala32Pro) GRCh37: Chr15:40763506 GRCh38: Chr15:40471307	CHST14	A32P	Cardiovascular phenotype	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 154262932.	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 177669933.	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 196298734.	NM_130468.4(CHST14):c.111G>T (p.Pro37_Pro38=) GRCh37: Chr15:40763523 GRCh38: Chr15:40471324	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 155640235.	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 159699736.	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 76151837.	NM_130468.4(CHST14):c.115C>T (p.Leu39=) GRCh37: Chr15:40763527 GRCh38: Chr15:40471328	CHST14		not provided	Likely benign (Jul 31, 2018)	criteria provided, single submitter
Select item 167406538.	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 176273639.	NM_130468.4(CHST14):c.125C>T (p.Pro42Leu) GRCh37: Chr15:40763537 GRCh38: Chr15:40471338	CHST14	P42L	Cardiovascular phenotype	Uncertain significance (Mar 23, 2021)	criteria provided, single submitter
Select item 59353740.	NM_130468.4(CHST14):c.125C>G (p.Pro42Arg) GRCh37: Chr15:40763537 GRCh38: Chr15:40471338	CHST14	P42R	not provided	Uncertain significance (Aug 22, 2017)	criteria provided, single submitter
Select item 57916141.	NM_130468.4(CHST14):c.130A>G (p.Met44Val) GRCh37: Chr15:40763542 GRCh38: Chr15:40471343	CHST14	M44V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 134160342.	NM_130468.4(CHST14):c.134T>G (p.Leu45Arg) GRCh37: Chr15:40763546 GRCh38: Chr15:40471347	CHST14	L45R	not provided	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 195621343.	NM_130468.4(CHST14):c.135G>C (p.Leu45_Met46=) GRCh37: Chr15:40763547 GRCh38: Chr15:40471348	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 97065144.	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 28158445.	NM_130468.4(CHST14):c.143C>T (p.Ala48Val) GRCh37: Chr15:40763555 GRCh38: Chr15:40471356	CHST14	A48V	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype, not provided	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 233646.	NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) GRCh37: Chr15:40763556 GRCh38: Chr15:40471357	CHST14		not provided, Ehlers-Danlos syndrome, musculocontractural type	Conflicting interpretations of pathogenicity (May 17, 2021)	criteria provided, conflicting interpretations
Select item 46854847.	NM_130468.4(CHST14):c.148A>T (p.Ile50Phe) GRCh37: Chr15:40763560 GRCh38: Chr15:40471361	CHST14	I50F	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 151069048.	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 70271749.	NM_130468.4(CHST14):c.151G>C (p.Val51Leu) GRCh37: Chr15:40763563 GRCh38: Chr15:40471364	CHST14	V51L	not provided, Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119074950.	NM_130468.4(CHST14):c.156_166del (p.Ser53fs) GRCh37: Chr15:40763565-40763575 GRCh38: Chr15:40471366-40471376	CHST14	S53fs	Ehlers-Danlos syndrome, musculocontractural type, not provided	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205635151.	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 64172652.	NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr) GRCh37: Chr15:40763570 GRCh38: Chr15:40471371	CHST14	S53Y	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Sep 6, 2018)	criteria provided, single submitter
Select item 57540353.	NM_130468.4(CHST14):c.160dup (p.Ser54fs) GRCh37: Chr15:40763571-40763572 GRCh38: Chr15:40471372-40471373	CHST14	S54fs	Ehlers-Danlos syndrome, musculocontractural type	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 107179854.	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 101796455.	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 74629556.	NM_130468.4(CHST14):c.174C>T (p.Leu58=) GRCh37: Chr15:40763586 GRCh38: Chr15:40471387	CHST14		not provided	Likely benign (Mar 30, 2018)	criteria provided, single submitter
Select item 164340357.	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 178113858.	NM_130468.4(CHST14):c.183G>C (p.Glu61Asp) GRCh37: Chr15:40763595 GRCh38: Chr15:40471396	CHST14	E61D	Cardiovascular phenotype	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 75181859.	NM_130468.4(CHST14):c.183G>A (p.Glu61=) GRCh37: Chr15:40763595 GRCh38: Chr15:40471396	CHST14		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter
Select item 131341360.	NM_130468.4(CHST14):c.188G>A (p.Gly63Asp) GRCh37: Chr15:40763600 GRCh38: Chr15:40471401	CHST14	G63D	not provided	Uncertain significance (Nov 5, 2020)	criteria provided, single submitter
Select item 178223161.	NM_130468.4(CHST14):c.189C>A (p.Gly63_Ile64=) GRCh37: Chr15:40763601 GRCh38: Chr15:40471402	CHST14		Cardiovascular phenotype	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 114194262.	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 96701863.	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 49990864.	NM_130468.4(CHST14):c.198C>G (p.Ala66=) GRCh37: Chr15:40763610 GRCh38: Chr15:40471411	CHST14		Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome, musculocontractural type	Conflicting interpretations of pathogenicity (Jun 14, 2022)	criteria provided, conflicting interpretations
Select item 196890865.	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 234166.	NM_130468.4(CHST14):c.205A>T (p.Lys69Ter) GRCh37: Chr15:40763617 GRCh38: Chr15:40471418	CHST14	K69*	Ehlers-Danlos syndrome, musculocontractural type 1	Pathogenic (Aug 1, 2010)	no assertion criteria provided
Select item 116631867.	NM_130468.4(CHST14):c.210C>T (p.Pro70=) GRCh37: Chr15:40763622 GRCh38: Chr15:40471423	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Benign (Oct 15, 2022)	criteria provided, single submitter
Select item 70591568.	NM_130468.4(CHST14):c.217C>T (p.Leu73=) GRCh37: Chr15:40763629 GRCh38: Chr15:40471430	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Apr 26, 2020)	criteria provided, single submitter
Select item 42619469.	NM_130468.4(CHST14):c.224C>A (p.Pro75Gln) GRCh37: Chr15:40763636 GRCh38: Chr15:40471437	CHST14	P75Q	not provided	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 215559170.	NM_130468.4(CHST14):c.228C>A (p.Pro76_Gly77=) GRCh37: Chr15:40763640 GRCh38: Chr15:40471441	CHST14		Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 59771971.	NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) GRCh37: Chr15:40763651 GRCh38: Chr15:40471452	CHST14	G80D	not provided, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149316572.	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 66335773.	NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) GRCh37: Chr15:40763662 GRCh38: Chr15:40471463	CHST14	R84S	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71069674.	NM_130468.4(CHST14):c.252C>T (p.Arg84=) GRCh37: Chr15:40763664 GRCh38: Chr15:40471465	CHST14		not provided, Ehlers-Danlos syndrome, musculocontractural type	Likely benign (Sep 7, 2021)	criteria provided, single submitter
Select item 162198575.	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 194985776.	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 80721077.	NM_130468.4(CHST14):c.275del (p.Gly92fs) GRCh37: Chr15:40763683 GRCh38: Chr15:40471484	CHST14	G92fs	not provided	Likely pathogenic (Sep 1, 2016)	criteria provided, single submitter
Select item 53642378.	NM_130468.4(CHST14):c.275G>T (p.Gly92Val) GRCh37: Chr15:40763687 GRCh38: Chr15:40471488	CHST14	G92V	Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 106422879.	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 21073180.	NM_130468.4(CHST14):c.288G>A (p.Arg96=) GRCh37: Chr15:40763700 GRCh38: Chr15:40471501	CHST14		Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype, not provided, not specified	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146851281.	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 179803582.	NM_130468.4(CHST14):c.294G>A (p.Gly98_Asp99=) GRCh37: Chr15:40763706 GRCh38: Chr15:40471507	CHST14		Cardiovascular phenotype	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 104210883.	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 109110584.	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 219075785.	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 242954386.	NM_130468.4(CHST14):c.301G>A (p.Asp101Asn) GRCh37: Chr15:40763713 GRCh38: Chr15:40471514	CHST14	D101N	not provided	Uncertain significance (Feb 13, 2023)	criteria provided, single submitter
Select item 159225987.	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 39300588.	NM_130468.4(CHST14):c.310G>A (p.Val104Met) GRCh37: Chr15:40763722 GRCh38: Chr15:40471523	CHST14	V104M	not provided	Uncertain significance (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172829289.	NM_130468.4(CHST14):c.315G>T (p.Arg105_Gln106=) GRCh37: Chr15:40763727 GRCh38: Chr15:40471528	CHST14		Cardiovascular phenotype	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 77254790.	NM_130468.4(CHST14):c.315G>A (p.Arg105=) GRCh37: Chr15:40763727 GRCh38: Chr15:40471528	CHST14		Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome, musculocontractural type	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 170215191.	NM_130468.4(CHST14):c.318G>A (p.Gln106_Asp107=) GRCh37: Chr15:40763730 GRCh38: Chr15:40471531	CHST14		Ehlers-Danlos syndrome	Uncertain significance (Sep 25, 2020)	criteria provided, single submitter
Select item 143542592.	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 141187093.	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 219800894.	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 173610995.	NM_130468.4(CHST14):c.390G>A (p.Pro130_Val131=) GRCh37: Chr15:40763802 GRCh38: Chr15:40471603	CHST14		Cardiovascular phenotype	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 50122296.	NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) GRCh37: Chr15:40763810 GRCh38: Chr15:40471611	CHST14	Q133P	not provided, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84095897.	NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) GRCh37: Chr15:40763812 GRCh38: Chr15:40471613	CHST14	R134W	Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151640698.	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 24281699.	NM_130468.4(CHST14):c.403C>G (p.Arg135Gly) GRCh37: Chr15:40763815 GRCh38: Chr15:40471616	CHST14	R135G		no interpretation for the single variant	no interpretation for the single variant
Select item 1582886100.	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

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