ClinVar for MedGen (Select 330777) - ClinVar

Links from MedGen

Items: 58

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16911091.	NM_001369268.1(ACAN):c.7499A>G (p.Lys2500Arg) GRCh37: Chr15:89417124 GRCh38: Chr15:88873893	ACAN	K2462R, K2500R	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 16911082.	NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu) GRCh37: Chr15:89414671 GRCh38: Chr15:88871440	ACAN	F2297L, F2335L, F2373L	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 16911073.	NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu) GRCh37: Chr15:89399986 GRCh38: Chr15:88856755	ACAN	D1390E	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 16795714.	NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala) GRCh37: Chr15:89398355 GRCh38: Chr15:88855124	ACAN	P847A	Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	Uncertain significance (Apr 23, 2021)	criteria provided, single submitter
Select item 13674855.	NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln) GRCh37: Chr15:89386664 GRCh38: Chr15:88843433	ACAN	R279Q	Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12937706.	NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) GRCh37: Chr15:89390520 GRCh38: Chr15:88847289	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12869627.	NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=) GRCh37: Chr15:89398996 GRCh38: Chr15:88855765	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12639318.	NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr) GRCh37: Chr15:89398553 GRCh38: Chr15:88855322	ACAN	P913T	not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12473269.	NM_001369268.1(ACAN):c.757+53T>G GRCh37: Chr15:89385151 GRCh38: Chr15:88841920	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122979410.	NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu) GRCh37: Chr15:89398407 GRCh38: Chr15:88855176	ACAN	P864L	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121437011.	NM_001369268.1(ACAN):c.1051+10G>A GRCh37: Chr15:89386889 GRCh38: Chr15:88843658	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120641112.	NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) GRCh37: Chr15:89382129 GRCh38: Chr15:88838898	ACAN	D102E	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120637613.	NM_001369268.1(ACAN):c.1221C>T (p.Val407=) GRCh37: Chr15:89388905 GRCh38: Chr15:88845674	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120632414.	NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) GRCh37: Chr15:89392818 GRCh38: Chr15:88849587	ACAN	A628T	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120616815.	NM_001369268.1(ACAN):c.1051+9C>T GRCh37: Chr15:89386888 GRCh38: Chr15:88843657	ACAN		not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120613616.	NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) GRCh37: Chr15:89392689 GRCh38: Chr15:88849458	ACAN	R585S	not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120605017.	NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) GRCh37: Chr15:89388894 GRCh38: Chr15:88845663	ACAN	I404V	not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120587118.	NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) GRCh37: Chr15:89390513 GRCh38: Chr15:88847282	ACAN	S490L	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118899619.	NM_001369268.1(ACAN):c.7303-110T>G GRCh37: Chr15:89416002 GRCh38: Chr15:88872771	ACAN		Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118899520.	NM_001369268.1(ACAN):c.6780T>G (p.Ala2260=) GRCh37: Chr15:89402596 GRCh38: Chr15:88859365	ACAN		Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118899421.	NM_001369268.1(ACAN):c.6423T>C (p.Leu2141=) GRCh37: Chr15:89402239 GRCh38: Chr15:88859008	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118893522.	NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val) GRCh37: Chr15:89402051 GRCh38: Chr15:88858820	ACAN	I2079V	Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 118893423.	NM_001369268.1(ACAN):c.5799T>G (p.Thr1933=) GRCh37: Chr15:89401615 GRCh38: Chr15:88858384	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118893324.	NM_001369268.1(ACAN):c.5293A>G (p.Ile1765Val) GRCh37: Chr15:89401109 GRCh38: Chr15:88857878	ACAN	I1765V	Osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118893225.	NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=) GRCh37: Chr15:89399110 GRCh38: Chr15:88855879	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118888726.	NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=) GRCh37: Chr15:89398825 GRCh38: Chr15:88855594	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118888627.	NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile) GRCh37: Chr15:89398605 GRCh38: Chr15:88855374	ACAN	S930I	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 118888528.	NM_001369268.1(ACAN):c.2514G>A (p.Ser838=) GRCh37: Chr15:89398330 GRCh38: Chr15:88855099	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118885029.	NM_001369268.1(ACAN):c.7631-7G>A GRCh37: Chr15:89417629 GRCh38: Chr15:88874398	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118884930.	NM_001369268.1(ACAN):c.1623C>A (p.Pro541=) GRCh37: Chr15:89391160 GRCh38: Chr15:88847929	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118884831.	NM_001369268.1(ACAN):c.1430-40G>A GRCh37: Chr15:89390434 GRCh38: Chr15:88847203	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118884732.	NM_001369268.1(ACAN):c.758-37del GRCh37: Chr15:89386544 GRCh38: Chr15:88843313	ACAN		Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, Osteochondritis dissecans	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118196233.	NM_001369268.1(ACAN):c.2289C>T (p.Pro763=) GRCh37: Chr15:89398105 GRCh38: Chr15:88854874	ACAN		Osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117493434.	NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg) GRCh37: Chr15:89417238 GRCh38: Chr15:88874007	ACAN	Q2500R, Q2538R	Osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117477935.	NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala) GRCh37: Chr15:89400023 GRCh38: Chr15:88856792	ACAN	T1403A	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 117476036.	NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) GRCh37: Chr15:89398631 GRCh38: Chr15:88855400	ACAN	S939T	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 97593137.	NM_001369268.1(ACAN):c.262G>A (p.Val88Met) GRCh37: Chr15:89382085 GRCh38: Chr15:88838854	ACAN	V88M	Spondyloepiphyseal dysplasia, Kimberley type	Uncertain significance (Sep 7, 2017)	criteria provided, single submitter
Select item 80311638.	NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) GRCh37: Chr15:89386652 GRCh38: Chr15:88843421	ACAN	R275Q	Spondyloepimetaphyseal dysplasia, aggrecan type, Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79087439.	NM_001369268.1(ACAN):c.204A>C (p.Pro68=) GRCh37: Chr15:89382027 GRCh38: Chr15:88838796	ACAN		not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78889840.	NM_001369268.1(ACAN):c.2247G>A (p.Val749=) GRCh37: Chr15:89395245 GRCh38: Chr15:88852014	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78663141.	NM_001369268.1(ACAN):c.1719A>G (p.Val573=) GRCh37: Chr15:89391256 GRCh38: Chr15:88848025	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77944942.	NM_001369268.1(ACAN):c.1398C>T (p.Thr466=) GRCh37: Chr15:89389082 GRCh38: Chr15:88845851	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, not provided, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77494643.	NM_001369268.1(ACAN):c.438G>A (p.Leu146=) GRCh37: Chr15:89382261 GRCh38: Chr15:88839030	ACAN		Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76872344.	NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) GRCh37: Chr15:89401825 GRCh38: Chr15:88858594	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign/Likely benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 72534645.	NM_001369268.1(ACAN):c.7451C>T (p.Ala2484Val) GRCh37: Chr15:89417076 GRCh38: Chr15:88873845	ACAN	A2446V, A2484V	not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62387546.	NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) GRCh37: Chr15:89389050 GRCh38: Chr15:88845819	ACAN	F456L	not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44400447.	NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn) GRCh37: Chr15:89388877 GRCh38: Chr15:88845646	ACAN	I398N	Osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type	Uncertain significance (Jun 11, 2017)	criteria provided, single submitter
Select item 29123448.	NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=) GRCh37: Chr15:89399167 GRCh38: Chr15:88855936	ACAN		not specified, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28763849.	NM_001369268.1(ACAN):c.186C>T (p.Thr62=) GRCh37: Chr15:89382009 GRCh38: Chr15:88838778	ACAN		not provided, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not specified	Benign/Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28498050.	NM_001369268.1(ACAN):c.1809T>C (p.Ala603=) GRCh37: Chr15:89392745 GRCh38: Chr15:88849514	ACAN		not specified, Osteochondritis dissecans, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28434751.	NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) GRCh37: Chr15:89390559 GRCh38: Chr15:88847328	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not specified, not provided	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28434652.	NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) GRCh37: Chr15:89392786 GRCh38: Chr15:88849555	ACAN	R617H	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided, not specified	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28434053.	NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) GRCh37: Chr15:89392802 GRCh38: Chr15:88849571	ACAN		not specified, not provided, Spondyloepimetaphyseal dysplasia, aggrecan type, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28433854.	NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) GRCh37: Chr15:89390574 GRCh38: Chr15:88847343	ACAN		not specified, not provided, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28392655.	NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) GRCh37: Chr15:89395035 GRCh38: Chr15:88851804	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, not specified, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28385456.	NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) GRCh37: Chr15:89417149 GRCh38: Chr15:88873918	ACAN		Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, not specified, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28383657.	NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala) GRCh37: Chr15:89400339 GRCh38: Chr15:88857108	ACAN	E1508A	not provided, not specified, Osteochondritis dissecans, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1430458.	NM_001369268.1(ACAN):c.3758dup (p.Gly1254fs) GRCh37: Chr15:89399570-89399571 GRCh38: Chr15:88856339-88856340	ACAN	G1254fs	Spondyloepiphyseal dysplasia, Kimberley type	Pathogenic (Sep 1, 2005)	no assertion criteria provided

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Items: 58