ClinVar for MedGen (Select 811638) - ClinVar

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Items: 57

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24353861.	NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys) GRCh37: Chr10:48389466 GRCh38: Chr10:47349896	RBP3	T471K	Retinitis pigmentosa 66	Uncertain significance (Jun 13, 2019)	criteria provided, single submitter
Select item 18040332.	NM_002900.3(RBP3):c.1472del (p.Leu491fs) GRCh37: Chr10:48389406 GRCh38: Chr10:47349956	RBP3	L491fs	Retinitis pigmentosa 66	Likely pathogenic (Jun 7, 2019)	criteria provided, single submitter
Select item 14631643.	NM_002900.3(RBP3):c.722A>T (p.Asp241Val) GRCh37: Chr10:48390156 GRCh38: Chr10:47349206	RBP3	D241V	Retinitis pigmentosa, Retinitis pigmentosa 66, not provided	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13561954.	NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) GRCh37: Chr10:48383891 GRCh38: Chr10:47355471	RBP3	R1114Q	Retinitis pigmentosa 66, not provided	Conflicting interpretations of pathogenicity (Mar 13, 2023)	criteria provided, conflicting interpretations
Select item 11845965.	NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) GRCh37: Chr10:48390369 GRCh38: Chr10:47348993	RBP3	R170Q	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 10657436.	NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) GRCh37: Chr10:48389191-48389192 GRCh38: Chr10:47350165-47350166	RBP3	T563fs	Retinitis pigmentosa 66, not provided	Pathogenic/Likely pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10143917.	NM_002900.3(RBP3):c.1532A>T (p.Asp511Val) GRCh37: Chr10:48389346 GRCh38: Chr10:47350016	RBP3	D511V	Inborn genetic diseases, not provided	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10075658.	NM_002900.3(RBP3):c.2240G>A (p.Arg747His) GRCh37: Chr10:48388638 GRCh38: Chr10:47350724	RBP3	R747H	Inborn genetic diseases, Retinitis pigmentosa 66, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9789739.	NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) GRCh37: Chr10:48389716 GRCh38: Chr10:47349646	RBP3	R388*	Retinitis pigmentosa 66	Pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 96495810.	NM_002900.3(RBP3):c.160C>T (p.Gln54Ter) GRCh37: Chr10:48390718 GRCh38: Chr10:47348644	RBP3	Q54*	not provided, Retinitis pigmentosa 66	Pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95868711.	NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys) GRCh37: Chr10:48389122 GRCh38: Chr10:47350240	RBP3	E586K	Inborn genetic diseases, Retinitis pigmentosa 66, not provided	Uncertain significance (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93384612.	NM_002900.3(RBP3):c.749G>A (p.Arg250His) GRCh37: Chr10:48390129 GRCh38: Chr10:47349233	RBP3	R250H	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 86914913.	NM_002900.3(RBP3):c.1408del (p.Asp470fs) GRCh37: Chr10:48389470 GRCh38: Chr10:47349891	RBP3	D470fs	Retinitis pigmentosa 66	Likely pathogenic (Nov 23, 2019)	criteria provided, single submitter
Select item 77914314.	NM_002900.3(RBP3):c.1296G>A (p.Val432=) GRCh37: Chr10:48389582 GRCh38: Chr10:47349780	RBP3		Retinitis pigmentosa, Retinitis pigmentosa 66, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72598115.	NM_002900.3(RBP3):c.1503C>T (p.Ala501=) GRCh37: Chr10:48389375 GRCh38: Chr10:47349987	RBP3		Retinitis pigmentosa, Retinitis pigmentosa 66, not provided, Retinitis pigmentosa	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29999816.	NM_002900.3(RBP3):c.-13C>T GRCh37: Chr10:48390890 GRCh38: Chr10:47348472	RBP3		Retinitis pigmentosa 66, Retinitis pigmentosa	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20832517.	NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met) GRCh37: Chr10:48382068 GRCh38: Chr10:47357294	RBP3	T1194M	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 20832418.	NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile) GRCh37: Chr10:48385917 GRCh38: Chr10:47353445	RBP3	V1059I	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 20832319.	NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile) GRCh37: Chr10:48387990 GRCh38: Chr10:47351372	RBP3	T963I	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20832220.	NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys) GRCh37: Chr10:48388012 GRCh38: Chr10:47351350	RBP3	E956K	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 20832121.	NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg) GRCh37: Chr10:48388115 GRCh38: Chr10:47351247	RBP3	S921R	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 20832022.	NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg) GRCh37: Chr10:48388170 GRCh38: Chr10:47351192	RBP3	T903R	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20831923.	NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) GRCh37: Chr10:48388375 GRCh38: Chr10:47350987	RBP3	G835S	not provided, Retinitis pigmentosa	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20831824.	NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) GRCh37: Chr10:48388381 GRCh38: Chr10:47350981	RBP3	R833C	not provided	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 20831725.	NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys) GRCh37: Chr10:48388523 GRCh38: Chr10:47350839	RBP3	N785K	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20831626.	NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys) GRCh37: Chr10:48388639 GRCh38: Chr10:47350723	RBP3	R747C	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20831527.	NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) GRCh37: Chr10:48388657 GRCh38: Chr10:47350705	RBP3	G741S	not provided, Retinitis pigmentosa	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20831428.	NM_002900.3(RBP3):c.2077G>A (p.Val693Met) GRCh37: Chr10:48388801 GRCh38: Chr10:47350561	RBP3	V693M	not provided, Retinitis pigmentosa	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20831329.	NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) GRCh37: Chr10:48388815 GRCh38: Chr10:47350547	RBP3	A688V	not provided, Retinitis pigmentosa	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20831230.	NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile) GRCh37: Chr10:48388854 GRCh38: Chr10:47350508	RBP3	T675I	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20831131.	NM_002900.3(RBP3):c.1844C>T (p.Ala615Val) GRCh37: Chr10:48389034 GRCh38: Chr10:47350328	RBP3	A615V	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20831032.	NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) GRCh37: Chr10:48389083 GRCh38: Chr10:47350279	RBP3	I599V	Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 20830933.	NM_002900.3(RBP3):c.1778T>C (p.Val593Ala) GRCh37: Chr10:48389100 GRCh38: Chr10:47350262	RBP3	V593A	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20830834.	NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys) GRCh37: Chr10:48389275 GRCh38: Chr10:47350087	RBP3	R535C	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 20830735.	NM_002900.3(RBP3):c.1569C>G (p.His523Gln) GRCh37: Chr10:48389309 GRCh38: Chr10:47350053	RBP3	H523Q	not provided, Retinitis pigmentosa 66	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 20830636.	NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) GRCh37: Chr10:48389325 GRCh38: Chr10:47350037	RBP3	Q518R	not provided	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 20830537.	NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser) GRCh37: Chr10:48389551 GRCh38: Chr10:47349811	RBP3	R443S	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20830438.	NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu) GRCh37: Chr10:48389580 GRCh38: Chr10:47349782	RBP3	S433L	not provided	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 20830139.	NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) GRCh37: Chr10:48389743 GRCh38: Chr10:47349619	RBP3	A379T	not provided, Retinitis pigmentosa	Uncertain significance (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20830040.	NM_002900.3(RBP3):c.1037G>A (p.Arg346His) GRCh37: Chr10:48389841 GRCh38: Chr10:47349521	RBP3	R346H	not provided, not specified, Retinitis pigmentosa	Benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20829941.	NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) GRCh37: Chr10:48389916 GRCh38: Chr10:47349446	RBP3	T321I	not provided, Retinitis pigmentosa	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20829842.	NM_002900.3(RBP3):c.844G>A (p.Val282Met) GRCh37: Chr10:48390034 GRCh38: Chr10:47349328	RBP3	V282M	not provided	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20829743.	NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) GRCh37: Chr10:48390078 GRCh38: Chr10:47349284	RBP3	R267Q	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 20829644.	NM_002900.3(RBP3):c.586G>A (p.Val196Met) GRCh37: Chr10:48390292 GRCh38: Chr10:47349070	RBP3	V196M	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20829545.	NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) GRCh37: Chr10:48390391 GRCh38: Chr10:47348971	RBP3	S163P	not provided, Retinitis pigmentosa	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20829446.	NM_002900.3(RBP3):c.463G>A (p.Val155Met) GRCh37: Chr10:48390415 GRCh38: Chr10:47348947	RBP3	V155M	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20829347.	NM_002900.3(RBP3):c.365G>A (p.Arg122His) GRCh37: Chr10:48390513 GRCh38: Chr10:47348849	RBP3	R122H	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 20829248.	NM_002900.3(RBP3):c.53G>T (p.Gly18Val) GRCh37: Chr10:48390825 GRCh38: Chr10:47348537	RBP3	G18V	Retinitis pigmentosa 66	Uncertain significance (Jun 27, 2013)	no assertion criteria provided
Select item 19518449.	NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) GRCh37: Chr10:48386030 GRCh38: Chr10:47353332	RBP3	S1021Y	not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 19324450.	NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) GRCh37: Chr10:48389905 GRCh38: Chr10:47349457	RBP3	A325T	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19324351.	NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) GRCh37: Chr10:48388710 GRCh38: Chr10:47350652	RBP3	P723L	not specified, not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 19324152.	NM_002900.3(RBP3):c.1514A>T (p.His505Leu) GRCh37: Chr10:48389364 GRCh38: Chr10:47349998	RBP3	H505L	not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 19323953.	NM_002900.3(RBP3):c.837G>A (p.Thr279=) GRCh37: Chr10:48390041 GRCh38: Chr10:47349321	RBP3		Retinitis pigmentosa 66, not specified, not provided, Retinitis pigmentosa	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19323854.	NM_002900.3(RBP3):c.2650G>A (p.Val884Met) GRCh37: Chr10:48388228 GRCh38: Chr10:47351134	RBP3	V884M	Retinitis pigmentosa 66, Retinitis pigmentosa, not provided, not specified, Retinitis pigmentosa	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16757155.	NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) GRCh37: Chr10:48389038 GRCh38: Chr10:47350324	RBP3	D614N	Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 9408756.	NM_002900.3(RBP3):c.1631G>A (p.Arg544His) GRCh37: Chr10:48389247 GRCh38: Chr10:47350115	RBP3	R544H	not specified, not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 5036857.	NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn) GRCh37: Chr10:48385854 GRCh38: Chr10:47353508	RBP3	D1080N	not provided	Pathogenic (Jun 22, 2022)	criteria provided, single submitter

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Items: 57