ClinVar for MedGen (Select 78547) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24280371.	NM_000112.4(SLC26A2):c.1332G>A (p.Leu444=) GRCh37: Chr5:149360488 GRCh38: Chr5:149980925	SLC26A2		Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 24223652.	NC_000005.9:g.(?_149357216)_(149361376_?)del GRCh37: Chr5:149357216-149361376	SLC26A2		Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia	Pathogenic (Aug 28, 2022)	criteria provided, single submitter
Select item 24195993.	NM_000112.4(SLC26A2):c.411T>G (p.Pro137=) GRCh37: Chr5:149357626 GRCh38: Chr5:149978063	SLC26A2		Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 24189214.	NM_000112.4(SLC26A2):c.1197A>G (p.Ser399=) GRCh37: Chr5:149360353 GRCh38: Chr5:149980790	SLC26A2		Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 24170375.	NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe) GRCh37: Chr5:149360081 GRCh38: Chr5:149980518	SLC26A2	L309F	Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 24162506.	NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly) GRCh37: Chr5:149357783 GRCh38: Chr5:149978220	SLC26A2	S190G	Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 24156847.	NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe) GRCh37: Chr5:149360603 GRCh38: Chr5:149981040	SLC26A2	L483F	Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 24155298.	NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val) GRCh37: Chr5:149359935 GRCh38: Chr5:149980372	SLC26A2	A260V	Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 24138199.	NM_000112.4(SLC26A2):c.1797A>G (p.Leu599=) GRCh37: Chr5:149360953 GRCh38: Chr5:149981390	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 220221510.	NM_000112.4(SLC26A2):c.706A>G (p.Met236Val) GRCh37: Chr5:149359862 GRCh38: Chr5:149980299	SLC26A2	M236V	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 220053411.	NM_000112.4(SLC26A2):c.627C>A (p.Asp209Glu) GRCh37: Chr5:149357842 GRCh38: Chr5:149978279	SLC26A2	D209E	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 219955312.	NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe) GRCh37: Chr5:149357850 GRCh38: Chr5:149978287	SLC26A2	C212F	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 219627013.	NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val) GRCh37: Chr5:149360975 GRCh38: Chr5:149981412	SLC26A2	I607V	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 219142114.	NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr) GRCh37: Chr5:149360697 GRCh38: Chr5:149981134	SLC26A2	I514T	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 218953715.	NM_000112.4(SLC26A2):c.1670T>C (p.Val557Ala) GRCh37: Chr5:149360826 GRCh38: Chr5:149981263	SLC26A2	V557A	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB, Inborn genetic diseases	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218731016.	NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del) GRCh37: Chr5:149360995-149360997 GRCh38: Chr5:149981432-149981434	SLC26A2	K615del	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 217492517.	NM_000112.4(SLC26A2):c.933C>T (p.Cys311=) GRCh37: Chr5:149360089 GRCh38: Chr5:149980526	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 217331418.	NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val) GRCh37: Chr5:149360561 GRCh38: Chr5:149980998	SLC26A2	L469V	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 217325719.	NM_000112.4(SLC26A2):c.69del (p.Pro24fs) GRCh37: Chr5:149357284 GRCh38: Chr5:149977721	SLC26A2	P24fs	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 217124220.	NM_000112.4(SLC26A2):c.1452T>C (p.Gly484=) GRCh37: Chr5:149360608 GRCh38: Chr5:149981045	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216811121.	NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met) GRCh37: Chr5:149361148 GRCh38: Chr5:149981585	SLC26A2	I664M	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 216774422.	NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr) GRCh37: Chr5:149360895 GRCh38: Chr5:149981332	SLC26A2	I580T	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 216661523.	NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala) GRCh37: Chr5:149361221 GRCh38: Chr5:149981658	SLC26A2	T689A	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 216586424.	NM_000112.4(SLC26A2):c.534A>G (p.Arg178=) GRCh37: Chr5:149357749 GRCh38: Chr5:149978186	SLC26A2		Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 216560925.	NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys) GRCh37: Chr5:149357289 GRCh38: Chr5:149977726	SLC26A2	S25C	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 216435526.	NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser) GRCh37: Chr5:149360420 GRCh38: Chr5:149980857	SLC26A2	G422S	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 216428627.	NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys) GRCh37: Chr5:149357910 GRCh38: Chr5:149978347	SLC26A2	Y232C	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 216426328.	NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys) GRCh37: Chr5:149360642 GRCh38: Chr5:149981079	SLC26A2	R496C	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 216284429.	NM_000112.4(SLC26A2):c.2136G>A (p.Val712=) GRCh37: Chr5:149361292 GRCh38: Chr5:149981729	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (May 1, 2020)	criteria provided, single submitter
Select item 216000930.	NM_000112.4(SLC26A2):c.72A>G (p.Pro24=) GRCh37: Chr5:149357287 GRCh38: Chr5:149977724	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 215983131.	NM_000112.4(SLC26A2):c.1115A>G (p.Lys372Arg) GRCh37: Chr5:149360271 GRCh38: Chr5:149980708	SLC26A2	K372R	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 215958732.	NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe) GRCh37: Chr5:149360196 GRCh38: Chr5:149980633	SLC26A2	S347F	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 215887233.	NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro) GRCh37: Chr5:149360720 GRCh38: Chr5:149981157	SLC26A2	S522P	Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis, type IB	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 215689534.	NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr) GRCh37: Chr5:149361095 GRCh38: Chr5:149981532	SLC26A2	H647Y	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Inborn genetic diseases	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215637635.	NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu) GRCh37: Chr5:149357310 GRCh38: Chr5:149977747	SLC26A2	Q32L	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215555836.	NM_000112.4(SLC26A2):c.1481C>T (p.Ala494Val) GRCh37: Chr5:149360637 GRCh38: Chr5:149981074	SLC26A2	A494V	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 215357637.	NM_000112.4(SLC26A2):c.162C>T (p.Ile54=) GRCh37: Chr5:149357377 GRCh38: Chr5:149977814	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 215056538.	NM_000112.4(SLC26A2):c.1782C>T (p.Cys594=) GRCh37: Chr5:149360938 GRCh38: Chr5:149981375	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 214916539.	NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg) GRCh37: Chr5:149360595 GRCh38: Chr5:149981032	SLC26A2	K480R	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Jan 22, 2022)	criteria provided, single submitter
Select item 214827140.	NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys) GRCh37: Chr5:149361167 GRCh38: Chr5:149981604	SLC26A2	R671C	Inborn genetic diseases, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II	Uncertain significance (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214353241.	NM_000112.4(SLC26A2):c.1437A>G (p.Gln479=) GRCh37: Chr5:149360593 GRCh38: Chr5:149981030	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 214280642.	NM_000112.4(SLC26A2):c.552C>G (p.Gly184=) GRCh37: Chr5:149357767 GRCh38: Chr5:149978204	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 214265643.	NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val) GRCh37: Chr5:149361054 GRCh38: Chr5:149981491	SLC26A2	D633V	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214174844.	NM_000112.4(SLC26A2):c.990_992del (p.Ala331del) GRCh37: Chr5:149360146-149360148 GRCh38: Chr5:149980583-149980585	SLC26A2	A331del	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 214075045.	NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val) GRCh37: Chr5:149361302 GRCh38: Chr5:149981739	SLC26A2	M716V	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 213966246.	NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg) GRCh37: Chr5:149360880 GRCh38: Chr5:149981317	SLC26A2	K575R	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 213634347.	NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val) GRCh37: Chr5:149361174 GRCh38: Chr5:149981611	SLC26A2	D673V	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 213634248.	NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr) GRCh37: Chr5:149357684 GRCh38: Chr5:149978121	SLC26A2	S157T	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 213094449.	NM_000112.4(SLC26A2):c.2087dup (p.Asn696fs) GRCh37: Chr5:149361241-149361242 GRCh38: Chr5:149981678-149981679	SLC26A2	N696fs	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 213010950.	NM_000112.4(SLC26A2):c.1284T>G (p.Pro428=) GRCh37: Chr5:149360440 GRCh38: Chr5:149980877	SLC26A2		Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, Atelosteogenesis type II	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212475251.	NM_000112.4(SLC26A2):c.1947A>C (p.Ile649=) GRCh37: Chr5:149361103 GRCh38: Chr5:149981540	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212057252.	NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu) GRCh37: Chr5:149360705 GRCh38: Chr5:149981142	SLC26A2	V517L	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211647253.	NM_000112.4(SLC26A2):c.291G>A (p.Gln97=) GRCh37: Chr5:149357506 GRCh38: Chr5:149977943	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 211539854.	NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser) GRCh37: Chr5:149357845 GRCh38: Chr5:149978282	SLC26A2	R210S	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211276855.	NM_000112.4(SLC26A2):c.1330T>C (p.Leu444=) GRCh37: Chr5:149360486 GRCh38: Chr5:149980923	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211030856.	NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter) GRCh37: Chr5:149357333 GRCh38: Chr5:149977770	SLC26A2	K40*	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 210614757.	NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter) GRCh37: Chr5:149357429 GRCh38: Chr5:149977866	SLC26A2	K72*	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 210067958.	NM_000112.4(SLC26A2):c.840dup (p.Asn281Ter) GRCh37: Chr5:149359995-149359996 GRCh38: Chr5:149980432-149980433	SLC26A2	N281*	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 209808459.	NM_000112.4(SLC26A2):c.1805_1808del (p.Gln602fs) GRCh37: Chr5:149360955-149360958 GRCh38: Chr5:149981392-149981395	SLC26A2	Q602fs	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 209780060.	NM_000112.4(SLC26A2):c.1833G>A (p.Val611=) GRCh37: Chr5:149360989 GRCh38: Chr5:149981426	SLC26A2		Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 209430361.	NM_000112.4(SLC26A2):c.1506C>A (p.Pro502=) GRCh37: Chr5:149360662 GRCh38: Chr5:149981099	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209320262.	NM_000112.4(SLC26A2):c.1554T>G (p.Thr518=) GRCh37: Chr5:149360710 GRCh38: Chr5:149981147	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209276963.	NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu) GRCh37: Chr5:149357420 GRCh38: Chr5:149977857	SLC26A2	F69L	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209246464.	NM_000112.4(SLC26A2):c.700-8C>T GRCh37: Chr5:149359848 GRCh38: Chr5:149980285	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 208752965.	NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe) GRCh37: Chr5:149360136 GRCh38: Chr5:149980573	SLC26A2	S327F	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 208669866.	NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter) GRCh37: Chr5:149360923 GRCh38: Chr5:149981360	SLC26A2	Y589*	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 208365367.	NM_000112.4(SLC26A2):c.617A>G (p.His206Arg) GRCh37: Chr5:149357832 GRCh38: Chr5:149978269	SLC26A2	H206R	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 208156368.	NM_000112.4(SLC26A2):c.2124C>T (p.Leu708=) GRCh37: Chr5:149361280 GRCh38: Chr5:149981717	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 207377269.	NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser) GRCh37: Chr5:149357775 GRCh38: Chr5:149978212	SLC26A2	N187S	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 206905270.	NM_000112.4(SLC26A2):c.1101G>A (p.Gly367=) GRCh37: Chr5:149360257 GRCh38: Chr5:149980694	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 206353771.	NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr) GRCh37: Chr5:149357585 GRCh38: Chr5:149978022	SLC26A2	P124T	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206272672.	NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu) GRCh37: Chr5:149357332 GRCh38: Chr5:149977769	SLC26A2	F39L	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 206152473.	NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser) GRCh37: Chr5:149361216 GRCh38: Chr5:149981653	SLC26A2	N687S	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 205591274.	NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met) GRCh37: Chr5:149357596 GRCh38: Chr5:149978033	SLC26A2	I127M	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205451775.	NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys) GRCh37: Chr5:149357865 GRCh38: Chr5:149978302	SLC26A2	Y217C	Inborn genetic diseases, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB	Uncertain significance (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204935776.	NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs) GRCh37: Chr5:149361370-149361377 GRCh38: Chr5:149981807-149981814	SLC26A2	D739fs	Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 204821077.	NM_000112.4(SLC26A2):c.2037C>G (p.Ile679Met) GRCh37: Chr5:149361193 GRCh38: Chr5:149981630	SLC26A2	I679M	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 204528278.	NM_000112.4(SLC26A2):c.165T>C (p.Leu55=) GRCh37: Chr5:149357380 GRCh38: Chr5:149977817	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204381979.	NM_000112.4(SLC26A2):c.1416T>A (p.Ala472=) GRCh37: Chr5:149360572 GRCh38: Chr5:149981009	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 204100680.	NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala) GRCh37: Chr5:149360421 GRCh38: Chr5:149980858	SLC26A2	G422A	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 204054181.	NM_000112.4(SLC26A2):c.1630del (p.Leu544fs) GRCh37: Chr5:149360785 GRCh38: Chr5:149981222	SLC26A2	L544fs	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 203792282.	NM_000112.4(SLC26A2):c.864T>C (p.Thr288=) GRCh37: Chr5:149360020 GRCh38: Chr5:149980457	SLC26A2		Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 203548583.	NM_000112.4(SLC26A2):c.1374G>A (p.Val458=) GRCh37: Chr5:149360530 GRCh38: Chr5:149980967	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203493084.	NM_000112.4(SLC26A2):c.1365T>C (p.Leu455=) GRCh37: Chr5:149360521 GRCh38: Chr5:149980958	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 203379285.	NM_000112.4(SLC26A2):c.1950G>A (p.Val650=) GRCh37: Chr5:149361106 GRCh38: Chr5:149981543	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 203344186.	NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter) GRCh37: Chr5:149357319 GRCh38: Chr5:149977756	SLC26A2	S35*	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 202892887.	NM_000112.4(SLC26A2):c.1353C>T (p.Cys451=) GRCh37: Chr5:149360509 GRCh38: Chr5:149980946	SLC26A2		Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 202839288.	NM_000112.4(SLC26A2):c.558C>T (p.Asp186=) GRCh37: Chr5:149357773 GRCh38: Chr5:149978210	SLC26A2		Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 202790889.	NM_000112.4(SLC26A2):c.390C>G (p.Ser130=) GRCh37: Chr5:149357605 GRCh38: Chr5:149978042	SLC26A2		Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202707490.	NM_000112.4(SLC26A2):c.2109del (p.Glu704fs) GRCh37: Chr5:149361264 GRCh38: Chr5:149981701	SLC26A2	E704fs	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 202620091.	NM_000112.4(SLC26A2):c.1641G>A (p.Gln547=) GRCh37: Chr5:149360797 GRCh38: Chr5:149981234	SLC26A2		Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 202512492.	NM_000112.4(SLC26A2):c.1656A>G (p.Ser552=) GRCh37: Chr5:149360812 GRCh38: Chr5:149981249	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202502893.	NM_000112.4(SLC26A2):c.420T>C (p.Gly140=) GRCh37: Chr5:149357635 GRCh38: Chr5:149978072	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 202428494.	NM_000112.4(SLC26A2):c.1230C>T (p.Tyr410=) GRCh37: Chr5:149360386 GRCh38: Chr5:149980823	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 202028495.	NM_000112.4(SLC26A2):c.1878G>A (p.Val626=) GRCh37: Chr5:149361034 GRCh38: Chr5:149981471	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 201573196.	NM_000112.4(SLC26A2):c.651T>C (p.Tyr217=) GRCh37: Chr5:149357866 GRCh38: Chr5:149978303	SLC26A2		Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201446397.	NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter) GRCh37: Chr5:149360499 GRCh38: Chr5:149980936	SLC26A2	S448*	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 200909798.	NM_000112.4(SLC26A2):c.2013C>T (p.Arg671=) GRCh37: Chr5:149361169 GRCh38: Chr5:149981606	SLC26A2		Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 200284799.	NM_000112.4(SLC26A2):c.610T>G (p.Leu204Val) GRCh37: Chr5:149357825 GRCh38: Chr5:149978262	SLC26A2	L204V	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 2002215100.	NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter) GRCh37: Chr5:149360584 GRCh38: Chr5:149981021	SLC26A2	Y476*	Atelosteogenesis type II, Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4	Pathogenic (Jun 3, 2022)	criteria provided, single submitter

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