ClinVar for MedGen (Select 462351) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16875501.	NM_000539.3(RHO):c.851G>A (p.Gly284Asp) GRCh37: Chr3:129251530 GRCh38: Chr3:129532687	RHO	G284D	Retinitis pigmentosa 4	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 12138952.	NM_000539.3(RHO):c.937-2A>G GRCh37: Chr3:129252449 GRCh38: Chr3:129533606	RHO		Retinitis pigmentosa 4	Pathogenic (Jun 21, 2021)	criteria provided, single submitter
Select item 12138943.	NM_000539.3(RHO):c.643C>G (p.Pro215Ala) GRCh37: Chr3:129251206 GRCh38: Chr3:129532363	RHO	P215A	not provided, Retinitis pigmentosa 4	Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9847894.	NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del) GRCh37: Chr3:129251435-129251446 GRCh38: Chr3:129532592-129532603	RHO		Retinitis pigmentosa 4, Retinitis pigmentosa	Uncertain significance (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9847885.	NM_000539.3(RHO):c.730C>T (p.Gln244Ter) GRCh37: Chr3:129251409 GRCh38: Chr3:129532566	RHO	Q244*	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 9847876.	NM_000539.3(RHO):c.673C>T (p.Gln225Ter) GRCh37: Chr3:129251236 GRCh38: Chr3:129532393	RHO	Q225*	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 9847867.	NM_000539.3(RHO):c.571T>G (p.Tyr191Asp) GRCh37: Chr3:129251134 GRCh38: Chr3:129532291	RHO	Y191D	Retinitis pigmentosa 4, not provided	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9847858.	NM_000539.3(RHO):c.559T>C (p.Cys187Arg) GRCh37: Chr3:129251122 GRCh38: Chr3:129532279	RHO	C187R	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 9847849.	NM_000539.3(RHO):c.553T>C (p.Cys185Arg) GRCh37: Chr3:129251116 GRCh38: Chr3:129532273	RHO	C185R	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98478310.	NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu) GRCh37: Chr3:129251108-129251109 GRCh38: Chr3:129532265-129532266	RHO	G182E	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98478211.	NM_000539.3(RHO):c.539C>T (p.Pro180Leu) GRCh37: Chr3:129251102 GRCh38: Chr3:129532259	RHO	P180L	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98478112.	NM_000539.3(RHO):c.362G>T (p.Gly121Val) GRCh37: Chr3:129249719 GRCh38: Chr3:129530876	RHO	G121V	Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98477913.	NM_000539.3(RHO):c.1040del (p.Pro347fs) GRCh37: Chr3:129252551 GRCh38: Chr3:129533708	RHO	P347fs	Retinitis pigmentosa 4	Pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98477814.	NM_000539.3(RHO):c.284T>C (p.Leu95Pro) GRCh37: Chr3:129247860 GRCh38: Chr3:129529017	RHO	L95P	Retinitis pigmentosa 4, Retinal degeneration, not provided	Conflicting interpretations of pathogenicity (Nov 8, 2021)	criteria provided, conflicting interpretations
Select item 98477715.	NM_000539.3(RHO):c.211C>T (p.Pro71Ser) GRCh37: Chr3:129247787 GRCh38: Chr3:129528944	RHO	P71S	Retinitis pigmentosa 4	Uncertain significance (Sep 1, 2020)	criteria provided, single submitter
Select item 98477616.	NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) GRCh37: Chr3:129247778-129247789 GRCh38: Chr3:129528935-129528946	RHO		Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98477517.	NM_000539.3(RHO):c.165C>A (p.Asn55Lys) GRCh37: Chr3:129247741 GRCh38: Chr3:129528898	RHO	N55K	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98477418.	NM_000539.3(RHO):c.116T>G (p.Met39Arg) GRCh37: Chr3:129247692 GRCh38: Chr3:129528849	RHO	M39R	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98477319.	NM_000539.3(RHO):c.66C>A (p.Ser22Arg) GRCh37: Chr3:129247642 GRCh38: Chr3:129528799	RHO	S22R	Retinitis pigmentosa 4	Uncertain significance (Sep 1, 2020)	criteria provided, single submitter
Select item 98477220.	NM_000539.3(RHO):c.50C>A (p.Thr17Lys) GRCh37: Chr3:129247626 GRCh38: Chr3:129528783	RHO	T17K	Retinitis pigmentosa 4, not provided	Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98477121.	NM_000539.3(RHO):c.977del (p.Asn326fs) GRCh37: Chr3:129252490 GRCh38: Chr3:129533647	RHO	N326fs	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98477022.	NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) GRCh37: Chr3:129252467-129252469 GRCh38: Chr3:129533624-129533626	RHO		Retinitis pigmentosa 4, not provided	Conflicting interpretations of pathogenicity (Apr 15, 2022)	criteria provided, conflicting interpretations
Select item 98476923.	NM_000539.3(RHO):c.929del (p.Asn310fs) GRCh37: Chr3:129251607 GRCh38: Chr3:129532764	RHO	N310fs	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98476824.	NM_000539.3(RHO):c.886A>C (p.Lys296Gln) GRCh37: Chr3:129251565 GRCh38: Chr3:129532722	RHO	K296Q	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 98476625.	NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del) GRCh37: Chr3:129251454-129251465 GRCh38: Chr3:129532611-129532622	RHO		Retinitis pigmentosa 4	Uncertain significance (Sep 1, 2020)	criteria provided, single submitter
Select item 98292126.	NM_000539.3(RHO):c.67C>T (p.Pro23Ser) GRCh37: Chr3:129247643 GRCh38: Chr3:129528800	RHO	P23S	Retinitis pigmentosa 4	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 98292027.	NM_000539.3(RHO):c.353_361+3del GRCh37: Chr3:129247928-129247939 GRCh38: Chr3:129529085-129529096	RHO		Retinitis pigmentosa 4	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 95580228.	NM_000539.3(RHO):c.888G>C (p.Lys296Asn) GRCh37: Chr3:129251567 GRCh38: Chr3:129532724	RHO	K296N	not provided, Retinitis pigmentosa 4	Pathogenic (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90211729.	NM_000539.3(RHO):c.399C>A (p.Ile133=) GRCh37: Chr3:129249756 GRCh38: Chr3:129530913	RHO		Retinitis pigmentosa, not provided, Congenital stationary night blindness autosomal dominant 1	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 86722530.	NM_000539.3(RHO):c.532T>C (p.Tyr178His) GRCh37: Chr3:129251095 GRCh38: Chr3:129532252	RHO	Y178H	Retinal dystrophy, not provided, Retinitis pigmentosa 4	Likely pathogenic (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86719931.	NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) GRCh37: Chr3:129252542 GRCh38: Chr3:129533699	RHO	S343N	Retinitis pigmentosa 4, not provided, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 86708132.	NM_000539.3(RHO):c.328T>C (p.Cys110Arg) GRCh37: Chr3:129247904 GRCh38: Chr3:129529061	RHO	C110R	Retinitis pigmentosa, Retinitis pigmentosa 4, Retinal dystrophy, not provided	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86702633.	NM_000539.3(RHO):c.551A>G (p.Gln184Arg) GRCh37: Chr3:129251114 GRCh38: Chr3:129532271	RHO	Q184R	Retinal dystrophy, not provided, Pigmentary retinal dystrophy	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 86653734.	NM_000539.3(RHO):c.560G>T (p.Cys187Phe) GRCh37: Chr3:129251123 GRCh38: Chr3:129532280	RHO	C187F	Retinitis pigmentosa 4, Retinal dystrophy, not provided	Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86641835.	NM_000539.3(RHO):c.512C>A (p.Pro171Gln) GRCh37: Chr3:129249869 GRCh38: Chr3:129531026	RHO	P171Q	Retinitis pigmentosa, Retinitis pigmentosa 4, not provided, Retinal dystrophy	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86618136.	NM_000539.3(RHO):c.325G>A (p.Gly109Arg) GRCh37: Chr3:129247901 GRCh38: Chr3:129529058	RHO	G109R	not provided, Retinitis pigmentosa 4, Retinal dystrophy	Pathogenic/Likely pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86588037.	NM_000539.3(RHO):c.647T>A (p.Met216Lys) GRCh37: Chr3:129251210 GRCh38: Chr3:129532367	RHO	M216K	not provided, Retinal dystrophy, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86296638.	NM_000539.3(RHO):c.512C>T (p.Pro171Leu) GRCh37: Chr3:129249869 GRCh38: Chr3:129531026	RHO	P171L	Retinal dystrophy, not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86098139.	NM_000539.3(RHO):c.310G>A (p.Val104Ile) GRCh37: Chr3:129247886 GRCh38: Chr3:129529043	RHO	V104I	not provided, Congenital stationary night blindness autosomal dominant 1, Pigmentary retinal dystrophy, Retinitis pigmentosa 4	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85649540.	NM_000539.3(RHO):c.527C>T (p.Ser176Phe) GRCh37: Chr3:129249884 GRCh38: Chr3:129531041	RHO	S176F	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85504341.	NM_000539.3(RHO):c.936+1G>T GRCh37: Chr3:129251616 GRCh38: Chr3:129532773	RHO		not provided, Retinitis pigmentosa, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82782642.	NM_000539.3(RHO):c.571T>A (p.Tyr191Asn) GRCh37: Chr3:129251134 GRCh38: Chr3:129532291	RHO	Y191N	Retinitis pigmentosa 4	Likely pathogenic (Aug 22, 2019)	criteria provided, single submitter
Select item 81239743.	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) GRCh37: Chr3:129251123 GRCh38: Chr3:129532280	RHO	C187Y	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81203344.	NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) GRCh37: Chr3:129252535 GRCh38: Chr3:129533692	RHO	E341K	not provided, not specified, Retinitis pigmentosa 4, Retinal dystrophy	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 81143245.	NM_000539.3(RHO):c.563G>A (p.Gly188Glu) GRCh37: Chr3:129251126 GRCh38: Chr3:129532283	RHO	G188E	Retinitis pigmentosa 4, not specified, not provided	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80200846.	NM_000539.3(RHO):c.1034T>C (p.Val345Ala) GRCh37: Chr3:129252548 GRCh38: Chr3:129533705	RHO	V345A	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80200747.	NM_000539.3(RHO):c.937-2A>T GRCh37: Chr3:129252449 GRCh38: Chr3:129533606	RHO		Retinitis pigmentosa 4	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80200648.	NM_000539.3(RHO):c.557C>G (p.Ser186Trp) GRCh37: Chr3:129251120 GRCh38: Chr3:129532277	RHO	S186W	Retinitis pigmentosa 4	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80200549.	NM_000539.3(RHO):c.317G>T (p.Gly106Val) GRCh37: Chr3:129247893 GRCh38: Chr3:129529050	RHO	G106V	Retinitis pigmentosa 4	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80200450.	NM_000539.3(RHO):c.45T>G (p.Asn15Lys) GRCh37: Chr3:129247621 GRCh38: Chr3:129528778	RHO	N15K	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63608451.	NM_000539.3(RHO):c.810C>A (p.Ser270Arg) GRCh37: Chr3:129251489 GRCh38: Chr3:129532646	RHO	S270R	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63541652.	NM_000539.3(RHO):c.328T>G (p.Cys110Gly) GRCh37: Chr3:129247904 GRCh38: Chr3:129529061	RHO	C110G	Retinitis pigmentosa 4	Likely pathogenic (Sep 19, 2018)	no assertion criteria provided
Select item 63508253.	NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) GRCh37: Chr3:129249765 GRCh38: Chr3:129530922	RHO	Y136*	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62530654.	NM_000539.3(RHO):c.913A>G (p.Ile305Val) GRCh37: Chr3:129251592 GRCh38: Chr3:129532749	RHO	I305V	Retinitis pigmentosa 4	Uncertain significance (Jan 9, 2019)	no assertion criteria provided
Select item 62530555.	NM_000539.3(RHO):c.895G>A (p.Ala299Thr) GRCh37: Chr3:129251574 GRCh38: Chr3:129532731	RHO	A299T	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 62530456.	NM_000539.3(RHO):c.755G>A (p.Arg252His) GRCh37: Chr3:129251434 GRCh38: Chr3:129532591	RHO	R252H	not provided	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 62530357.	NM_000539.3(RHO):c.538C>A (p.Pro180Thr) GRCh37: Chr3:129251101 GRCh38: Chr3:129532258	RHO	P180T	Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 62530258.	NM_000539.3(RHO):c.439C>T (p.Arg147Cys) GRCh37: Chr3:129249796 GRCh38: Chr3:129530953	RHO	R147C	not provided, Retinitis pigmentosa 4	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62530159.	NM_000539.3(RHO):c.302G>T (p.Gly101Val) GRCh37: Chr3:129247878 GRCh38: Chr3:129529035	RHO	G101V	Retinitis pigmentosa 4	Pathogenic (Jan 9, 2019)	criteria provided, single submitter
Select item 62530060.	NM_000539.3(RHO):c.218A>G (p.Asn73Ser) GRCh37: Chr3:129247794 GRCh38: Chr3:129528951	RHO	N73S	Retinitis pigmentosa	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 62529961.	NM_000539.3(RHO):c.185C>A (p.Thr62Asn) GRCh37: Chr3:129247761 GRCh38: Chr3:129528918	RHO	T62N	not provided	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 62529862.	NM_000539.3(RHO):c.178T>C (p.Tyr60His) GRCh37: Chr3:129247754 GRCh38: Chr3:129528911	RHO	Y60H	not provided	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 62529763.	NM_000539.3(RHO):c.53G>A (p.Gly18Asp) GRCh37: Chr3:129247629 GRCh38: Chr3:129528786	RHO	G18D	not provided, Retinitis pigmentosa 4	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 59443564.	NM_000539.3(RHO):c.759G>T (p.Met253Ile) GRCh37: Chr3:129251438 GRCh38: Chr3:129532595	RHO	M253I	not provided, Congenital stationary night blindness autosomal dominant 1, Pigmentary retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 4	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 49728665.	NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) GRCh37: Chr3:129251440-129251442 GRCh38: Chr3:129532597-129532599	RHO	I256del	Retinal dystrophy, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 49337366.	NM_000539.3(RHO):c.392T>C (p.Leu131Pro) GRCh37: Chr3:129249749 GRCh38: Chr3:129530906	RHO	L131P	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43799767.	NM_000539.3(RHO):c.509C>G (p.Pro170Arg) GRCh37: Chr3:129249866 GRCh38: Chr3:129531023	RHO	P170R	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41786768.	NM_000539.3(RHO):c.491C>T (p.Ala164Val) GRCh37: Chr3:129249848 GRCh38: Chr3:129531005	RHO	A164V	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25638469.	NM_000539.3(RHO):c.696+4C>T GRCh37: Chr3:129251263 GRCh38: Chr3:129532420	RHO		not specified, not provided, Pigmentary retinal dystrophy, Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa 4, Retinitis pigmentosa	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25638370.	NM_000539.3(RHO):c.-26A>G GRCh37: Chr3:129247551 GRCh38: Chr3:129528708	RHO		not specified, not provided, Pigmentary retinal dystrophy, Retinitis pigmentosa 4, Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25638271.	NM_000539.3(RHO):c.*43C>A GRCh37: Chr3:129252604 GRCh38: Chr3:129533761	RHO		not specified, not provided, Retinitis pigmentosa, Pigmentary retinal dystrophy, Retinitis pigmentosa 4, Congenital stationary night blindness autosomal dominant 1	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19628272.	NM_000539.3(RHO):c.541G>A (p.Glu181Lys) GRCh37: Chr3:129251104 GRCh38: Chr3:129532261	RHO	E181K	Retinal dystrophy, not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14307973.	NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) GRCh37: Chr3:129247756 GRCh38: Chr3:129528913	RHO	Y60*	Retinitis pigmentosa 4, not provided	Pathogenic/Likely pathogenic (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 1305674.	NM_000539.3(RHO):c.1033G>A (p.Val345Met) GRCh37: Chr3:129252547 GRCh38: Chr3:129533704	RHO	V345M	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1305575.	NM_000539.3(RHO):c.67C>G (p.Pro23Ala) GRCh37: Chr3:129247643 GRCh38: Chr3:129528800	RHO	P23A	Retinitis pigmentosa 4	Pathogenic (Sep 1, 2000)	no assertion criteria provided
Select item 1305376.	NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) GRCh37: Chr3:129252554 GRCh38: Chr3:129533711	RHO	P347Q	not provided	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 1305277.	NM_000539.3(RHO):c.1033G>C (p.Val345Leu) GRCh37: Chr3:129252547 GRCh38: Chr3:129533704	RHO	V345L	not provided	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 1305178.	NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) GRCh37: Chr3:129251468-129251470 GRCh38: Chr3:129532625-129532627	RHO	C264del	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1305079.	NM_000539.3(RHO):c.511C>T (p.Pro171Ser) GRCh37: Chr3:129249868 GRCh38: Chr3:129531025	RHO	P171S	Retinal dystrophy, not provided	Pathogenic (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1304980.	NM_000539.3(RHO):c.491C>A (p.Ala164Glu) GRCh37: Chr3:129249848 GRCh38: Chr3:129531005	RHO	A164E	not provided	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 1304881.	NM_000539.3(RHO):c.341G>A (p.Gly114Asp) GRCh37: Chr3:129247917 GRCh38: Chr3:129529074	RHO	G114D	not provided, Retinitis pigmentosa 4	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1304782.	NM_000539.3(RHO):c.151G>C (p.Gly51Arg) GRCh37: Chr3:129247727 GRCh38: Chr3:129528884	RHO	G51R	not provided	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 1304683.	NM_000539.3(RHO):c.448G>A (p.Glu150Lys) GRCh37: Chr3:129249805 GRCh38: Chr3:129530962	RHO	E150K	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1304384.	NM_000539.3(RHO):c.620T>G (p.Met207Arg) GRCh37: Chr3:129251183 GRCh38: Chr3:129532340	RHO	M207R	Retinal dystrophy	Pathogenic (Oct 12, 2018)	criteria provided, single submitter
Select item 1304285.	NM_000539.3(RHO):c.44A>G (p.Asn15Ser) GRCh37: Chr3:129247620 GRCh38: Chr3:129528777	RHO	N15S	not provided, Retinitis pigmentosa 4	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1304086.	NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) GRCh37: Chr3:129251131 GRCh38: Chr3:129532288	RHO	D190Y	not provided, Retinitis pigmentosa	Pathogenic (Aug 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1303887.	NM_000539.3(RHO):c.316G>A (p.Gly106Arg) GRCh37: Chr3:129247892 GRCh38: Chr3:129529049	RHO	G106R	Retinal dystrophy, not provided, Retinitis pigmentosa, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1303788.	NM_000539.3(RHO):c.158C>G (p.Pro53Arg) GRCh37: Chr3:129247734 GRCh38: Chr3:129528891	RHO	P53R	not provided	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 1303589.	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) GRCh37: Chr3:129247905 GRCh38: Chr3:129529062	RHO	C110Y	Retinal dystrophy, not provided	Pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1303490.	NM_000539.3(RHO):c.800C>T (p.Pro267Leu) GRCh37: Chr3:129251479 GRCh38: Chr3:129532636	RHO	P267L	not provided, Retinitis pigmentosa 4	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1303391.	NM_000539.3(RHO):c.544G>A (p.Gly182Ser) GRCh37: Chr3:129251107 GRCh38: Chr3:129532264	RHO	G182S	Retinal dystrophy, not provided	Pathogenic (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1303292.	NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) GRCh37: Chr3:129252554 GRCh38: Chr3:129533711	RHO	P347R	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1303093.	NM_000539.3(RHO):c.886A>G (p.Lys296Glu) GRCh37: Chr3:129251565 GRCh38: Chr3:129532722	RHO	K296E	not provided, Retinitis pigmentosa 4	Pathogenic (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1302994.	NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) GRCh37: Chr3:129252544 GRCh38: Chr3:129533701	RHO	Q344*	not provided, Retinitis pigmentosa 4	Pathogenic (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1302895.	NM_000539.3(RHO):c.403C>T (p.Arg135Trp) GRCh37: Chr3:129249760 GRCh38: Chr3:129530917	RHO	R135W	Retinal dystrophy, not provided, Retinitis pigmentosa, Retinitis pigmentosa 4	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1302796.	NM_000539.3(RHO):c.632A>C (p.His211Pro) GRCh37: Chr3:129251195 GRCh38: Chr3:129532352	RHO	H211P	Retinal dystrophy, Retinitis pigmentosa 4	Likely pathogenic (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 1302697.	NM_000539.3(RHO):c.569A>G (p.Asp190Gly) GRCh37: Chr3:129251132 GRCh38: Chr3:129532289	RHO	D190G	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1302598.	NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) GRCh37: Chr3:129251096 GRCh38: Chr3:129532253	RHO	Y178C	not provided, Retinitis pigmentosa 4	Pathogenic/Likely pathogenic (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1302499.	NM_000539.3(RHO):c.404G>T (p.Arg135Leu) GRCh37: Chr3:129249761 GRCh38: Chr3:129530918	RHO	R135L	not provided, Retinitis pigmentosa 4	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13023100.	NM_000539.3(RHO):c.568G>A (p.Asp190Asn) GRCh37: Chr3:129251131 GRCh38: Chr3:129532288	RHO	D190N	not provided, Retinitis pigmentosa 4	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts

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