Choroideremia - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 7507961.	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) GRCh37: Chr1:68896768 GRCh38: Chr1:68431085	RPE65	D477G	RPE65-Related Disorders, Neurodevelopmental disorder, Retinitis pigmentosa 20, Leber congenital amaurosis 2, not provided, Retinitis pigmentosa 20, Retinal dystrophy	Pathogenic/Likely pathogenic (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 987132.	NM_000322.5(PRPH2):c.828+3A>T GRCh37: Chr6:42672100 GRCh38: Chr6:42704362	PRPH2		PRPH2-Related Disorders, Retinal dystrophy, Patterned dystrophy of the retinal pigment epithelium, Vitelliform macular dystrophy 2, not provided, Retinitis pigmentosa, Stargardt disease, Cone-rod dystrophy, Choroideremia, Doyne honeycomb retinal dystrophy	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16989653.	NM_000390.4(CHM):c.1960T>C (p.Ter654Gln) GRCh37: ChrX:85119637 GRCh38: ChrX:85864632	CHM		not provided, Choroideremia	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11655344.	NM_000390.4(CHM):c.1929A>C (p.Thr643=) GRCh37: ChrX:85119668 GRCh38: ChrX:85864663	CHM		not provided	Benign (May 13, 2022)	criteria provided, single submitter
Select item 7943775.	NM_000390.4(CHM):c.1920G>A (p.Lys640=) GRCh37: ChrX:85119677 GRCh38: ChrX:85864672	CHM		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 9514736.	NM_000390.4(CHM):c.1893A>G (p.Ile631Met) GRCh37: ChrX:85119704 GRCh38: ChrX:85864699	CHM	I483M, I631M	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 14597647.	NM_000390.4(CHM):c.1775_1814del (p.Glu592fs) GRCh37: ChrX:85119783-85119822 GRCh38: ChrX:85864778-85864817	CHM	E592fs, E444fs	not provided	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 6982228.	NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) GRCh37: ChrX:85119795 GRCh38: ChrX:85864790	CHM	N601S, N453S	not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 7964459.	NM_000390.4(CHM):c.1782T>C (p.Leu594=) GRCh37: ChrX:85119815 GRCh38: ChrX:85864810	CHM		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 44946710.	NM_000390.4(CHM):c.1771-1G>A GRCh37: ChrX:85119827 GRCh38: ChrX:85864822	CHM		not provided	Pathogenic (Dec 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 101196111.	NM_000390.4(CHM):c.1771-4C>T GRCh37: ChrX:85119830 GRCh38: ChrX:85864825	CHM		not provided	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 203277912.	NM_000390.4(CHM):c.1770+1G>C GRCh37: ChrX:85128056 GRCh38: ChrX:85873051	CHM		not provided	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 84053713.	NM_000390.4(CHM):c.1718_1719del (p.Tyr573fs) GRCh37: ChrX:85128108-85128109 GRCh38: ChrX:85873103-85873104	CHM	Y573fs, Y425fs	not provided	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 169872114.	NM_000390.4(CHM):c.1714G>A (p.Val572Ile) GRCh37: ChrX:85128113 GRCh38: ChrX:85873108	CHM	V424I, V572I	Choroideremia	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 76750615.	NM_000390.4(CHM):c.1713C>T (p.Asn571=) GRCh37: ChrX:85128114 GRCh38: ChrX:85873109	CHM		not provided	Benign (Oct 7, 2022)	criteria provided, single submitter
Select item 54649316.	NM_000390.4(CHM):c.1680del (p.Ser561fs) GRCh37: ChrX:85128147 GRCh38: ChrX:85873142	CHM	S413fs, S561fs	Choroideremia, not provided	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107495717.	NM_000390.4(CHM):c.1670C>A (p.Ser557Ter) GRCh37: ChrX:85128157 GRCh38: ChrX:85873152	CHM	S409, S557	not provided	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 94771318.	NM_000390.4(CHM):c.1664G>C (p.Arg555Thr) GRCh37: ChrX:85128163 GRCh38: ChrX:85873158	CHM	R555T, R407T	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 107311719.	NM_000390.4(CHM):c.1663A>T (p.Arg555Ter) GRCh37: ChrX:85128164 GRCh38: ChrX:85873159	CHM	R407, R555	not provided	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 87185720.	NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) GRCh37: ChrX:85128172-85128176 GRCh38: ChrX:85873167-85873171	CHM	Y551fs, Y403fs	not provided, Choroideremia	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96454121.	NM_000390.4(CHM):c.1648C>G (p.Leu550Val) GRCh37: ChrX:85128179 GRCh38: ChrX:85873174	CHM	L550V, L402V	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 80404422.	NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) GRCh37: ChrX:85128182 GRCh38: ChrX:85873177	CHM	A401P, A549P	not provided, Choroideremia	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87185823.	NM_000390.4(CHM):c.1644G>A (p.Trp548Ter) GRCh37: ChrX:85128183 GRCh38: ChrX:85873178	CHM	W400, W548	not provided	Pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70277324.	NM_000390.4(CHM):c.1641G>T (p.Leu547=) GRCh37: ChrX:85128186 GRCh38: ChrX:85873181	CHM		not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116586825.	NM_000390.4(CHM):c.1620A>G (p.Gln540=) GRCh37: ChrX:85128207 GRCh38: ChrX:85873202	CHM		not provided	Benign (Oct 7, 2022)	criteria provided, single submitter
Select item 5622426.	NM_000390.4(CHM):c.1609+2dup GRCh37: ChrX:85133967-85133968 GRCh38: ChrX:85878962-85878963	CHM		Choroideremia, Salla type, Choroideremia	Pathogenic (Jul 1, 1994)	no assertion criteria provided
Select item 213861927.	NM_000390.4(CHM):c.1603G>T (p.Glu535Ter) GRCh37: ChrX:85133976 GRCh38: ChrX:85878971	CHM	E387, E535	not provided	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 1115228.	NM_000390.4(CHM):c.1584_1587del (p.Val529fs) GRCh37: ChrX:85133992-85133995 GRCh38: ChrX:85878987-85878990	CHM	V529fs, V381fs	Retinal dystrophy, not provided, Choroideremia	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105976029.	NM_000390.4(CHM):c.1574A>G (p.Gln525Arg) GRCh37: ChrX:85134005 GRCh38: ChrX:85879000	CHM	Q377R, Q525R	not provided	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 80404530.	NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) GRCh37: ChrX:85134006 GRCh38: ChrX:85879001	CHM	Q377, Q525	Choroideremia	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 138974631.	NM_000390.4(CHM):c.1565C>G (p.Ser522Ter) GRCh37: ChrX:85134014 GRCh38: ChrX:85879009	CHM	S374, S522	not provided	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 107229832.	NM_000390.4(CHM):c.1565C>A (p.Ser522Ter) GRCh37: ChrX:85134014 GRCh38: ChrX:85879009	CHM	S374, S522	not provided	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 172670633.	NM_000390.4(CHM):c.1530C>A (p.Cys510Ter) GRCh37: ChrX:85134049 GRCh38: ChrX:85879044	CHM	C362, C510	Choroideremia	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 3980934.	NM_000390.4(CHM):c.1520A>G (p.His507Arg) GRCh37: ChrX:85134059 GRCh38: ChrX:85879054	CHM	H507R, H359R	Choroideremia	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 213862035.	NM_000390.4(CHM):c.1511-1G>A GRCh37: ChrX:85134069 GRCh38: ChrX:85879064	CHM		not provided	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 85712236.	NM_000390.4(CHM):c.1511-2A>G GRCh37: ChrX:85134070 GRCh38: ChrX:85879065	CHM		not provided	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 81158537.	NM_000390.4(CHM):c.1511-6del GRCh37: ChrX:85134074 GRCh38: ChrX:85879069	CHM		Choroideremia, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1115338.	NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) GRCh37: ChrX:85149206 GRCh38: ChrX:85894201	CHM	C499, C351	Choroideremia	Pathogenic (Jan 1, 1993)	no assertion criteria provided
Select item 1114939.	NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) GRCh37: ChrX:85149219 GRCh38: ChrX:85894214	CHM	S495, S347	not provided	Pathogenic (Aug 1, 2017)	criteria provided, single submitter
Select item 1115040.	NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) GRCh37: ChrX:85149232 GRCh38: ChrX:85894227	CHM	E491, E343	Choroideremia	Pathogenic (Jun 1, 1992)	no assertion criteria provided
Select item 86605941.	NM_000390.4(CHM):c.1446del (p.Gly483fs) GRCh37: ChrX:85149257 GRCh38: ChrX:85894252	CHM	G483fs, G335fs	Retinal dystrophy	Likely pathogenic (Jan 17, 2018)	criteria provided, single submitter
Select item 37232442.	NM_000390.4(CHM):c.1437dup (p.Glu480fs) GRCh37: ChrX:85149265-85149266 GRCh38: ChrX:85894260-85894261	CHM	E332fs, E480fs	not provided	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107311843.	NM_000390.4(CHM):c.1414-1G>A GRCh37: ChrX:85149290 GRCh38: ChrX:85894285	CHM		not provided	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 107311944.	NM_000390.4(CHM):c.1413+1G>A GRCh37: ChrX:85155650 GRCh38: ChrX:85900645	CHM		not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 81316845.	NM_000390.4(CHM):c.1413+1G>T GRCh37: ChrX:85155650 GRCh38: ChrX:85900645	CHM		Choroideremia, not provided	Pathogenic (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213862146.	NM_000390.4(CHM):c.1403C>G (p.Ser468Ter) GRCh37: ChrX:85155661 GRCh38: ChrX:85900656	CHM	S468, S320	not provided	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 170352047.	NM_000390.4(CHM):c.1402del (p.Ser468fs) GRCh37: ChrX:85155662 GRCh38: ChrX:85900657	CHM	S320fs, S468fs	Choroideremia	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 70722248.	NM_000390.4(CHM):c.1380T>C (p.Asp460=) GRCh37: ChrX:85155684 GRCh38: ChrX:85900679	CHM		not provided	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 86684649.	NM_000390.4(CHM):c.1363del (p.Ala455fs) GRCh37: ChrX:85155701 GRCh38: ChrX:85900696	CHM	A307fs, A455fs	Retinal dystrophy, not provided	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86631350.	NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) GRCh37: ChrX:85155705-85155706 GRCh38: ChrX:85900700-85900701	CHM		not provided, Retinal dystrophy	Pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1114851.	NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) GRCh37: ChrX:85155705-85155706 GRCh38: ChrX:85900700-85900701	CHM	S305, S453	Choroideremia	Pathogenic (Jun 1, 1992)	no assertion criteria provided
Select item 168563052.	NM_000390.4(CHM):c.1350-1G>A GRCh37: ChrX:85155715 GRCh38: ChrX:85900710	CHM		Choroideremia	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 70240653.	NM_000390.4(CHM):c.1349+10C>T GRCh37: ChrX:85156079 GRCh38: ChrX:85901074	CHM		not provided	Benign (Nov 4, 2022)	criteria provided, single submitter
Select item 200325054.	NM_000390.4(CHM):c.1349+1G>T GRCh37: ChrX:85156088 GRCh38: ChrX:85901083	CHM		not provided	Likely pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 37232355.	NM_000390.4(CHM):c.1342C>T (p.Gln448Ter) GRCh37: ChrX:85156096 GRCh38: ChrX:85901091	CHM	Q448, Q300	not provided	Pathogenic (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213862256.	NM_000390.4(CHM):c.1327_1328del (p.Met443fs) GRCh37: ChrX:85156110-85156111 GRCh38: ChrX:85901105-85901106	CHM	M443fs, M295fs	not provided	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 213862357.	NM_000390.4(CHM):c.1327A>G (p.Met443Val) GRCh37: ChrX:85156111 GRCh38: ChrX:85901106	CHM	M295V, M443V	not provided	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 81226758.	NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) GRCh37: ChrX:85156124 GRCh38: ChrX:85901119	CHM	Y290, Y438	Choroideremia	Pathogenic (Jun 23, 2019)	no assertion criteria provided
Select item 103449059.	NM_000390.4(CHM):c.1275G>C (p.Gln425His) GRCh37: ChrX:85156163 GRCh38: ChrX:85901158	CHM	Q277H, Q425H	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 96171560.	NM_000390.4(CHM):c.1273C>T (p.Gln425Ter) GRCh37: ChrX:85156165 GRCh38: ChrX:85901160	CHM	Q277, Q425	not provided	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 213862461.	NM_000390.4(CHM):c.1264C>T (p.Gln422Ter) GRCh37: ChrX:85156174 GRCh38: ChrX:85901169	CHM	Q274, Q422	not provided	Pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 70755062.	NM_000390.4(CHM):c.1255A>G (p.Ile419Val) GRCh37: ChrX:85156183 GRCh38: ChrX:85901178	CHM	I271V, I419V	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 84614463.	NM_000390.4(CHM):c.1245-1G>T GRCh37: ChrX:85156194 GRCh38: ChrX:85901189	CHM		not provided	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 107598764.	NM_000390.4(CHM):c.1245-2A>G GRCh37: ChrX:85156195 GRCh38: ChrX:85901190	CHM		not provided	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 70730665.	NM_000390.4(CHM):c.1245-8_1245-6del GRCh37: ChrX:85156199-85156201 GRCh38: ChrX:85901194-85901196	CHM		not provided	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 29039866.	NM_000390.4(CHM):c.1244+8T>A GRCh37: ChrX:85166258 GRCh38: ChrX:85911253	CHM		not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 107312067.	NM_000390.4(CHM):c.1234G>T (p.Glu412Ter) GRCh37: ChrX:85166276 GRCh38: ChrX:85911271	CHM	E264, E412	not provided	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 48868168.	NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) GRCh37: ChrX:85166292 GRCh38: ChrX:85911287	CHM	C406, C258	not provided	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85271169.	NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr) GRCh37: ChrX:85166293 GRCh38: ChrX:85911288	CHM	C406Y, C258Y	not provided	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 37232270.	NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) GRCh37: ChrX:85166297 GRCh38: ChrX:85911292	CHM	Q405, Q257	not provided	Pathogenic (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141165871.	NM_000390.4(CHM):c.1194T>G (p.Tyr398Ter) GRCh37: ChrX:85166316 GRCh38: ChrX:85911311	CHM	Y250, Y398	not provided	Pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 172570672.	NM_000390.4(CHM):c.1186G>T (p.Gly396Ter) GRCh37: ChrX:85166324 GRCh38: ChrX:85911319	CHM	G248, G396	Choroideremia	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 139073273.	NM_000390.4(CHM):c.1167-2A>G GRCh37: ChrX:85166345 GRCh38: ChrX:85911340	CHM		not provided	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 139072174.	NM_000390.4(CHM):c.1166+2T>G GRCh37: ChrX:85211156 GRCh38: ChrX:85956151	CHM		not provided	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 107555375.	NM_000390.4(CHM):c.1166+1G>C GRCh37: ChrX:85211157 GRCh38: ChrX:85956152	CHM		not provided, Choroideremia	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 191832476.	NM_000390.4(CHM):c.1153del (p.Gln385fs) GRCh37: ChrX:85211171 GRCh38: ChrX:85956166	CHM	Q237fs, Q385fs	not provided	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 27977777.	NM_000390.4(CHM):c.1138C>T (p.Gln380Ter) GRCh37: ChrX:85211186 GRCh38: ChrX:85956181	CHM	Q380, Q232	not provided	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121397478.	NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) GRCh37: ChrX:85211258 GRCh38: ChrX:85956253	CHM	K208, K356	not provided, Choroideremia	Pathogenic (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80404679.	NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) GRCh37: ChrX:85211267-85211268 GRCh38: ChrX:85956262-85956263	CHM	D205fs, D353fs	not provided, Choroideremia	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37232180.	NM_000390.4(CHM):c.1019C>A (p.Ser340Ter) GRCh37: ChrX:85211305 GRCh38: ChrX:85956300	CHM	S340, S192	not provided	Pathogenic (Aug 5, 2015)	criteria provided, single submitter
Select item 70463381.	NM_000390.4(CHM):c.1008T>C (p.Ile336=) GRCh37: ChrX:85211316 GRCh38: ChrX:85956311	CHM		not provided	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 180632282.	NM_000390.4(CHM):c.999_1000insT (p.Gln334fs) GRCh37: ChrX:85211324-85211325 GRCh38: ChrX:85956319-85956320	CHM	Q186fs, Q334fs	Choroideremia	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 106920983.	NM_000390.4(CHM):c.993del (p.Asn332fs) GRCh37: ChrX:85211331 GRCh38: ChrX:85956326	CHM	N184fs, N332fs	not provided	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 172572884.	NM_000390.4(CHM):c.963T>A (p.Tyr321Ter) GRCh37: ChrX:85211361 GRCh38: ChrX:85956356	CHM	Y173, Y321	Choroideremia	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 84832385.	NM_000390.4(CHM):c.962A>G (p.Tyr321Cys) GRCh37: ChrX:85211362 GRCh38: ChrX:85956357	CHM	Y321C, Y173C	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 168563186.	NM_000390.4(CHM):c.961del (p.Tyr321fs) GRCh37: ChrX:85211363 GRCh38: ChrX:85956358	CHM	Y173fs, Y321fs	Choroideremia, not provided	Pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19872487.	NM_000390.4(CHM):c.957A>G (p.Thr319=) GRCh37: ChrX:85211367 GRCh38: ChrX:85956362	CHM		not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 180636588.	NM_000390.4(CHM):c.941-1G>A GRCh37: ChrX:85211384 GRCh38: ChrX:85956379	CHM		not provided, Choroideremia	Pathogenic (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106921089.	NM_000390.4(CHM):c.941-2A>G GRCh37: ChrX:85211385 GRCh38: ChrX:85956380	CHM		not provided	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 145555890.	NM_000390.4(CHM):c.940+2T>C GRCh37: ChrX:85212858 GRCh38: ChrX:85957853	CHM		not provided	Pathogenic (Dec 13, 2021)	criteria provided, single submitter
Select item 107602591.	NM_000390.4(CHM):c.940+1G>C GRCh37: ChrX:85212859 GRCh38: ChrX:85957854	CHM		not provided	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 95543092.	NM_000390.4(CHM):c.940+1G>T GRCh37: ChrX:85212859 GRCh38: ChrX:85957854	CHM		not provided	Pathogenic (Sep 18, 2019)	criteria provided, single submitter
Select item 83947593.	NM_000390.4(CHM):c.940G>A (p.Gly314Arg) GRCh37: ChrX:85212860 GRCh38: ChrX:85957855	CHM	G314R, G166R	not provided	Likely pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 95339794.	NM_000390.4(CHM):c.934del (p.Tyr312fs) GRCh37: ChrX:85212866 GRCh38: ChrX:85957861	CHM	Y312fs, Y164fs	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 84497095.	NM_000390.4(CHM):c.926C>T (p.Pro309Leu) GRCh37: ChrX:85212874 GRCh38: ChrX:85957869	CHM	P309L, P161L	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 87186196.	NM_000390.4(CHM):c.924T>G (p.Tyr308Ter) GRCh37: ChrX:85212876 GRCh38: ChrX:85957871	CHM	Y160, Y308	not provided	Pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145556097.	NM_000390.4(CHM):c.910G>T (p.Glu304Ter) GRCh37: ChrX:85212890 GRCh38: ChrX:85957885	CHM	E304, E156	not provided	Pathogenic (Aug 22, 2021)	criteria provided, single submitter
Select item 1115498.	NM_000390.4(CHM):c.877C>T (p.Arg293Ter) GRCh37: ChrX:85212923 GRCh38: ChrX:85957918	CHM	R293, R145	not provided	Pathogenic (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121397399.	NM_000390.4(CHM):c.856C>T (p.Gln286Ter) GRCh37: ChrX:85212944 GRCh38: ChrX:85957939	CHM	Q138, Q286	not provided, Choroideremia	Pathogenic (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1330298100.	NM_000390.4(CHM):c.846dup (p.Asn283Ter) GRCh37: ChrX:85212953-85212954 GRCh38: ChrX:85957948-85957949	CHM	N135, N283	Choroideremia	Pathogenic (Dec 15, 2021)	criteria provided, single submitter

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