7439[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3051091.	NM_004183.3(BEST1):c.-536T>C GRCh37: Chr11:61717400 GRCh38: Chr11:61949928	BEST1		Vitelliform macular dystrophy 2, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3051102.	NM_004183.3(BEST1):c.-428C>T GRCh37: Chr11:61717508 GRCh38: Chr11:61950036	BEST1		Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3051113.	NM_004183.3(BEST1):c.-373T>A GRCh37: Chr11:61717563 GRCh38: Chr11:61950091	BEST1		Retinitis Pigmentosa, Recessive, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3051124.	NM_004183.3(BEST1):c.-329C>T GRCh37: Chr11:61717607 GRCh38: Chr11:61950135	BEST1		Vitelliform macular dystrophy 2, not provided, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy	Benign (Jul 7, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3051135.	NM_004183.3(BEST1):c.-221T>C GRCh37: Chr11:61717715 GRCh38: Chr11:61950243	BEST1		Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Retinitis Pigmentosa, Recessive, not provided	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3051146.	NM_004183.3(BEST1):c.-125G>A GRCh37: Chr11:61717811 GRCh38: Chr11:61950339	BEST1		Vitelliform macular dystrophy 2, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3051157.	NM_004183.3(BEST1):c.-121C>T GRCh37: Chr11:61717815 GRCh38: Chr11:61950343	BEST1		Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Retinitis Pigmentosa, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3051168.	NM_004183.4(BEST1):c.-66G>T GRCh37: Chr11:61717870 GRCh38: Chr11:61950398	BEST1		Retinitis pigmentosa, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 4381849.	NM_004183.4(BEST1):c.-37+1G>T GRCh37: Chr11:61717900 GRCh38: Chr11:61950428	BEST1		Autosomal recessive bestrophinopathy	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 213710910.	NM_004183.4(BEST1):c.-37+5G>A GRCh37: Chr11:61717904 GRCh38: Chr11:61950432	BEST1		not provided	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 127354511.	NM_004183.4(BEST1):c.-37+137G>A GRCh37: Chr11:61718036 GRCh38: Chr11:61950564	BEST1		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 119433912.	NM_004183.4(BEST1):c.-37+274G>A GRCh37: Chr11:61718173 GRCh38: Chr11:61950701	BEST1		not provided	Likely benign (Jul 9, 2018)	criteria provided, single submitter
Select item 121519213.	NM_004183.4(BEST1):c.-37+329T>C GRCh37: Chr11:61718228 GRCh38: Chr11:61950756	BEST1		not provided	Likely benign (Jul 14, 2018)	criteria provided, single submitter
Select item 127662714.	NM_004183.4(BEST1):c.-36-217G>A GRCh37: Chr11:61719026 GRCh38: Chr11:61951554	BEST1		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 125788915.	NM_004183.4(BEST1):c.-36-173T>C GRCh37: Chr11:61719070 GRCh38: Chr11:61951598	BEST1		not provided	Benign (Jul 10, 2018)	criteria provided, single submitter
Select item 209871416.	NM_004183.4(BEST1):c.1A>G (p.Met1Val) GRCh37: Chr11:61719279 GRCh38: Chr11:61951807	BEST1	M1V	not provided	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 86634417.	NM_004183.4(BEST1):c.5C>G (p.Thr2Ser) GRCh37: Chr11:61719283 GRCh38: Chr11:61951811	BEST1	T2S	Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150360018.	NM_004183.4(BEST1):c.8T>A (p.Ile3Asn) GRCh37: Chr11:61719286 GRCh38: Chr11:61951814	BEST1	I3N	not provided	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 87072119.	NM_004183.4(BEST1):c.11C>T (p.Thr4Ile) GRCh37: Chr11:61719289 GRCh38: Chr11:61951817	BEST1	T4I	not provided	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209211620.	NM_004183.4(BEST1):c.13T>A (p.Tyr5Asn) GRCh37: Chr11:61719291 GRCh38: Chr11:61951819	BEST1	Y5N	not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 85857721.	NM_004183.4(BEST1):c.16A>G (p.Thr6Ala) GRCh37: Chr11:61719294 GRCh38: Chr11:61951822	BEST1	T6A	not provided, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 273222.	NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) GRCh37: Chr11:61719294 GRCh38: Chr11:61951822	BEST1	T6P	not provided, Vitelliform macular dystrophy 2	Pathogenic (Aug 1, 2007)	no assertion criteria provided
Select item 170931923.	NM_004183.4(BEST1):c.17C>A (p.Thr6Lys) GRCh37: Chr11:61719295 GRCh38: Chr11:61951823	BEST1	T6K	Vitelliform macular dystrophy 2	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 9968924.	NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) GRCh37: Chr11:61719295 GRCh38: Chr11:61951823	BEST1	T6R	not provided	Pathogenic/Likely pathogenic (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93974225.	NM_004183.4(BEST1):c.20G>A (p.Ser7Asn) GRCh37: Chr11:61719298 GRCh38: Chr11:61951826	BEST1	S7N	not provided	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 139874826.	NM_004183.4(BEST1):c.25G>C (p.Val9Leu) GRCh37: Chr11:61719303 GRCh38: Chr11:61951831	BEST1	V9L	not provided	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 273427.	NM_004183.4(BEST1):c.25G>A (p.Val9Met) GRCh37: Chr11:61719303 GRCh38: Chr11:61951831	BEST1	V9M	Vitelliform macular dystrophy 2	Pathogenic (Sep 1, 1998)	no assertion criteria provided
Select item 43857928.	NM_004183.4(BEST1):c.26T>G (p.Val9Gly) GRCh37: Chr11:61719304 GRCh38: Chr11:61951832	BEST1	V9G	Vitelliform macular dystrophy 2	Likely pathogenic (Sep 11, 2017)	criteria provided, single submitter
Select item 9970029.	NM_004183.4(BEST1):c.26T>C (p.Val9Ala) GRCh37: Chr11:61719304 GRCh38: Chr11:61951832	BEST1	V9A	not provided	not provided	no assertion provided
Select item 9970630.	NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) GRCh37: Chr11:61719306 GRCh38: Chr11:61951834	BEST1	A10T	Retinal dystrophy, not provided	Pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9970931.	NM_004183.4(BEST1):c.29C>T (p.Ala10Val) GRCh37: Chr11:61719307 GRCh38: Chr11:61951835	BEST1	A10V	not provided	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 149295432.	NM_004183.4(BEST1):c.32A>G (p.Asn11Ser) GRCh37: Chr11:61719310 GRCh38: Chr11:61951838	BEST1	N11S	not provided	Likely pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 9971533.	NM_004183.4(BEST1):c.32A>T (p.Asn11Ile) GRCh37: Chr11:61719310 GRCh38: Chr11:61951838	BEST1	N11I	not provided	not provided	no assertion provided
Select item 43235334.	NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) GRCh37: Chr11:61719311 GRCh38: Chr11:61951839	BEST1	N11K	not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 9971635.	NM_004183.4(BEST1):c.33T>C (p.Asn11=) GRCh37: Chr11:61719311 GRCh38: Chr11:61951839	BEST1		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 171968336.	NM_004183.4(BEST1):c.35C>T (p.Ala12Val) GRCh37: Chr11:61719313 GRCh38: Chr11:61951841	BEST1	A12V	not provided	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 86592337.	NM_004183.4(BEST1):c.35C>G (p.Ala12Gly) GRCh37: Chr11:61719313 GRCh38: Chr11:61951841	BEST1	A12G	Vitelliform macular dystrophy 2, Retinal dystrophy	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44425338.	NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) GRCh37: Chr11:61719315 GRCh38: Chr11:61951843	BEST1	R13G	not provided, Isolated macular dystrophy	Pathogenic/Likely pathogenic (Jan 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 27970139.	NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) GRCh37: Chr11:61719315 GRCh38: Chr11:61951843	BEST1	R13C	Vitelliform macular dystrophy 2, Retinal dystrophy, not provided	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 42497740.	NM_004183.4(BEST1):c.38G>C (p.Arg13Pro) GRCh37: Chr11:61719316 GRCh38: Chr11:61951844	BEST1	R13P	not provided	Likely pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 9971741.	NM_004183.4(BEST1):c.38G>A (p.Arg13His) GRCh37: Chr11:61719316 GRCh38: Chr11:61951844	BEST1	R13H	Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200997042.	NM_004183.4(BEST1):c.41T>C (p.Leu14Ser) GRCh37: Chr11:61719319 GRCh38: Chr11:61951847	BEST1	L14S	not provided	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 42973143.	NM_004183.4(BEST1):c.44G>A (p.Gly15Asp) GRCh37: Chr11:61719322 GRCh38: Chr11:61951850	BEST1	G15D	not provided	Pathogenic (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100092744.	NM_004183.4(BEST1):c.47C>A (p.Ser16Tyr) GRCh37: Chr11:61719325 GRCh38: Chr11:61951853	BEST1	S16Y	not provided	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 9972345.	NM_004183.4(BEST1):c.47C>T (p.Ser16Phe) GRCh37: Chr11:61719325 GRCh38: Chr11:61951853	BEST1	S16F	not provided	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 147596646.	NM_004183.4(BEST1):c.50_52del (p.Phe17del) GRCh37: Chr11:61719326-61719328 GRCh38: Chr11:61951854-61951856	BEST1	F17del	not provided	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 96706947.	NM_004183.4(BEST1):c.49T>A (p.Phe17Ile) GRCh37: Chr11:61719327 GRCh38: Chr11:61951855	BEST1	F17I	not provided	Likely pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 87072248.	NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr) GRCh37: Chr11:61719328 GRCh38: Chr11:61951856	BEST1	F17Y	not provided	Likely pathogenic (Dec 1, 2019)	criteria provided, single submitter
Select item 9972449.	NM_004183.4(BEST1):c.50T>G (p.Phe17Cys) GRCh37: Chr11:61719328 GRCh38: Chr11:61951856	BEST1	F17C	not provided	not provided	no assertion provided
Select item 130745750.	NM_004183.4(BEST1):c.51C>A (p.Phe17Leu) GRCh37: Chr11:61719329 GRCh38: Chr11:61951857	BEST1	F17L	not provided	Uncertain significance (Jul 26, 2019)	criteria provided, single submitter
Select item 49725751.	NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) GRCh37: Chr11:61719333 GRCh38: Chr11:61951861	BEST1	R19C	not provided	Conflicting interpretations of pathogenicity (Mar 11, 2022)	criteria provided, conflicting interpretations
Select item 148715652.	NM_004183.4(BEST1):c.56G>A (p.Arg19His) GRCh37: Chr11:61719334 GRCh38: Chr11:61951862	BEST1	R19H	not provided	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 63600053.	NM_004183.4(BEST1):c.58C>G (p.Leu20Val) GRCh37: Chr11:61719336 GRCh38: Chr11:61951864	BEST1	L20V	Vitelliform macular dystrophy 2	Pathogenic (Apr 1, 2018)	no assertion criteria provided
Select item 158682654.	NM_004183.4(BEST1):c.60G>A (p.Leu20=) GRCh37: Chr11:61719338 GRCh38: Chr11:61951866	BEST1		not provided	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 9972855.	NM_004183.4(BEST1):c.61C>G (p.Leu21Val) GRCh37: Chr11:61719339 GRCh38: Chr11:61951867	BEST1	L21V	not provided	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 215211356.	NM_004183.4(BEST1):c.62T>G (p.Leu21Arg) GRCh37: Chr11:61719340 GRCh38: Chr11:61951868	BEST1	L21R	not provided	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 147546557.	NM_004183.4(BEST1):c.62T>A (p.Leu21Gln) GRCh37: Chr11:61719340 GRCh38: Chr11:61951868	BEST1	L21Q	not provided	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 112711358.	NM_004183.4(BEST1):c.66G>A (p.Leu22=) GRCh37: Chr11:61719344 GRCh38: Chr11:61951872	BEST1		not provided	Likely benign (Jun 12, 2020)	criteria provided, single submitter
Select item 164756459.	NM_004183.4(BEST1):c.69C>T (p.Cys23=) GRCh37: Chr11:61719347 GRCh38: Chr11:61951875	BEST1		not provided	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 105658760.	NM_004183.4(BEST1):c.70T>C (p.Trp24Arg) GRCh37: Chr11:61719348 GRCh38: Chr11:61951876	BEST1	W24R	not provided	Likely pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 106989461.	NM_004183.4(BEST1):c.72G>A (p.Trp24Ter) GRCh37: Chr11:61719350 GRCh38: Chr11:61951878	BEST1	W24*	not provided	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 9975062.	NM_004183.4(BEST1):c.72G>T (p.Trp24Cys) GRCh37: Chr11:61719350 GRCh38: Chr11:61951878	BEST1	W24C	not provided	not provided	no assertion provided
Select item 9975163.	NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) GRCh37: Chr11:61719351 GRCh38: Chr11:61951879	BEST1	R25W	not provided, Vitelliform macular dystrophy 2	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9975264.	NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) GRCh37: Chr11:61719352 GRCh38: Chr11:61951880	BEST1	R25Q	not provided, Autosomal recessive bestrophinopathy	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148928865.	NM_004183.4(BEST1):c.76G>A (p.Gly26Ser) GRCh37: Chr11:61719354 GRCh38: Chr11:61951882	BEST1	G26S	not provided	Likely pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 86648466.	NM_004183.4(BEST1):c.77G>A (p.Gly26Asp) GRCh37: Chr11:61719355 GRCh38: Chr11:61951883	BEST1	G26D	Retinal dystrophy	Uncertain significance (Jan 27, 2018)	criteria provided, single submitter
Select item 114426267.	NM_004183.4(BEST1):c.78C>T (p.Gly26=) GRCh37: Chr11:61719356 GRCh38: Chr11:61951884	BEST1		not provided	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 146611868.	NM_004183.4(BEST1):c.79A>G (p.Ser27Gly) GRCh37: Chr11:61719357 GRCh38: Chr11:61951885	BEST1	S27G	not provided	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 147439969.	NM_004183.4(BEST1):c.80G>A (p.Ser27Asn) GRCh37: Chr11:61719358 GRCh38: Chr11:61951886	BEST1	S27N	not provided	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 9975370.	NM_004183.4(BEST1):c.81C>G (p.Ser27Arg) GRCh37: Chr11:61719359 GRCh38: Chr11:61951887	BEST1	S27R	not provided	not provided	no assertion provided
Select item 196796571.	NM_004183.4(BEST1):c.84C>T (p.Ile28=) GRCh37: Chr11:61719362 GRCh38: Chr11:61951890	BEST1		not provided	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 9975772.	NM_004183.4(BEST1):c.85T>C (p.Tyr29His) GRCh37: Chr11:61719363 GRCh38: Chr11:61951891	BEST1	Y29H	not provided	Pathogenic (Nov 1, 2017)	criteria provided, single submitter
Select item 62329373.	NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys) GRCh37: Chr11:61719364 GRCh38: Chr11:61951892	BEST1	Y29C	Vitelliform macular dystrophy 2, not provided	Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9975974.	NM_004183.4(BEST1):c.87C>T (p.Tyr29=) GRCh37: Chr11:61719365 GRCh38: Chr11:61951893	BEST1		not provided	not provided	no assertion provided
Select item 273075.	NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter) GRCh37: Chr11:61719365 GRCh38: Chr11:61951893	BEST1	Y29*	not provided	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 9976976.	NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) GRCh37: Chr11:61719367 GRCh38: Chr11:61951895	BEST1	K30R	Retinal dystrophy, not provided, Vitelliform macular dystrophy 2	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 164277177.	NM_004183.4(BEST1):c.93G>A (p.Leu31=) GRCh37: Chr11:61719371 GRCh38: Chr11:61951899	BEST1		not provided	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 63615578.	NM_004183.4(BEST1):c.95T>C (p.Leu32Pro) GRCh37: Chr11:61719373 GRCh38: Chr11:61951901	BEST1	L32P	not provided	Likely pathogenic (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86664079.	NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp) GRCh37: Chr11:61719375 GRCh38: Chr11:61951903	BEST1	Y33D	Retinal dystrophy	Uncertain significance (Jul 11, 2019)	criteria provided, single submitter
Select item 86651380.	NM_004183.4(BEST1):c.97T>C (p.Tyr33His) GRCh37: Chr11:61719375 GRCh38: Chr11:61951903	BEST1	Y33H	Retinal dystrophy, not provided	Conflicting interpretations of pathogenicity (May 27, 2022)	criteria provided, conflicting interpretations
Select item 166767781.	NM_004183.4(BEST1):c.99T>C (p.Tyr33=) GRCh37: Chr11:61719377 GRCh38: Chr11:61951905	BEST1		not provided	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 41806182.	NM_004183.4(BEST1):c.102C>T (p.Gly34=) GRCh37: Chr11:61719380 GRCh38: Chr11:61951908	BEST1		not provided	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 27970283.	NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) GRCh37: Chr11:61719381 GRCh38: Chr11:61951909	BEST1	E35K	Autosomal recessive bestrophinopathy, BEST1-related condition, not provided	Pathogenic/Likely pathogenic (Jul 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169542384.	NM_004183.4(BEST1):c.105G>C (p.Glu35Asp) GRCh37: Chr11:61719383 GRCh38: Chr11:61951911	BEST1	E35D	Autosomal recessive bestrophinopathy	Uncertain significance	criteria provided, single submitter
Select item 136517685.	NM_004183.4(BEST1):c.109_110delinsCC (p.Leu37Pro) GRCh37: Chr11:61719387-61719388 GRCh38: Chr11:61951915-61951916	BEST1	L37P	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 9967886.	NM_004183.4(BEST1):c.109T>C (p.Leu37=) GRCh37: Chr11:61719387 GRCh38: Chr11:61951915	BEST1		not specified, not provided, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, Retinitis pigmentosa 50, Autosomal recessive bestrophinopathy, Vitelliform macular dystrophy 2	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42419187.	NM_004183.4(BEST1):c.113T>G (p.Ile38Ser) GRCh37: Chr11:61719391 GRCh38: Chr11:61951919	BEST1	I38S	not provided	Uncertain significance (Mar 15, 2017)	criteria provided, single submitter
Select item 165991488.	NM_004183.4(BEST1):c.117C>T (p.Phe39=) GRCh37: Chr11:61719395 GRCh38: Chr11:61951923	BEST1		not provided	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 145170489.	NM_004183.4(BEST1):c.119dup (p.Leu41fs) GRCh37: Chr11:61719396-61719397 GRCh38: Chr11:61951924-61951925	BEST1	L41fs	not provided	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 274390.	NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) GRCh37: Chr11:61719400 GRCh38: Chr11:61951928	BEST1	L41P	not provided	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 189906791.	NM_004183.4(BEST1):c.133A>G (p.Ile45Val) GRCh37: Chr11:61719411 GRCh38: Chr11:61951939	BEST1	I45V	not provided	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 155422192.	NM_004183.4(BEST1):c.135C>T (p.Ile45=) GRCh37: Chr11:61719413 GRCh38: Chr11:61951941	BEST1		not provided	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 134769793.	NM_004183.4(BEST1):c.137T>C (p.Ile46Thr) GRCh37: Chr11:61719415 GRCh38: Chr11:61951943	BEST1	I46T	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 30511794.	NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) GRCh37: Chr11:61719417 GRCh38: Chr11:61951945	BEST1	R47C	Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, not provided, Vitelliform macular dystrophy 2	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 212811695.	NM_004183.4(BEST1):c.140G>T (p.Arg47Leu) GRCh37: Chr11:61719418 GRCh38: Chr11:61951946	BEST1	R47L	not provided	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 273896.	NM_004183.4(BEST1):c.140G>A (p.Arg47His) GRCh37: Chr11:61719418 GRCh38: Chr11:61951946	BEST1	R47H	not provided, Vitelliform macular dystrophy 2	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 156412397.	NM_004183.4(BEST1):c.141C>A (p.Arg47=) GRCh37: Chr11:61719419 GRCh38: Chr11:61951947	BEST1		not provided	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 110480198.	NM_004183.4(BEST1):c.150T>C (p.Tyr50=) GRCh37: Chr11:61719428 GRCh38: Chr11:61951956	BEST1		not provided	Likely benign (Dec 28, 2019)	criteria provided, single submitter
Select item 134860199.	NM_004183.4(BEST1):c.152G>A (p.Arg51Lys) GRCh37: Chr11:61719430 GRCh38: Chr11:61951958	BEST1	R51K	not provided	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 305118100.	NM_004183.4(BEST1):c.152+6G>T GRCh37: Chr11:61719436 GRCh38: Chr11:61951964	BEST1		Retinitis pigmentosa, Vitelliform macular dystrophy 2, not provided, Autosomal dominant vitreoretinochoroidopathy	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations

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