ClinVar for MedGen (Select 325055) - ClinVar

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Items: 60

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26280631.	NM_015629.4(PRPF31):c.946-344C>T GRCh37: Chr19:54631104 GRCh38: Chr19:54127729	PRPF31		Retinitis pigmentosa 11	Uncertain significance (Jan 1, 2021)	criteria provided, single submitter
Select item 25792462.	GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1 GRCh38: Chr19:54109954-54115802	PRPF31, TFPT		Retinitis pigmentosa 11	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 25792423.	GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1 GRCh38: Chr19:54105500-54126715	NDUFA3, PRPF31, PRPF31-AS1, TFPT		Retinitis pigmentosa 11	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792414.	GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1 GRCh38: Chr19:54106667-54131817	NDUFA3, PRPF31, PRPF31-AS1, TFPT		Retinitis pigmentosa 11	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792405.	GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1 GRCh38: Chr19:54114345-54129468	PRPF31, PRPF31-AS1, TFPT		Retinitis pigmentosa 11	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792396.	GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1 GRCh38: Chr19:54121739-54131817	PRPF31, PRPF31-AS1		Retinitis pigmentosa 11	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792387.	GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1 GRCh38: Chr19:54121739-54129468	PRPF31, PRPF31-AS1		Retinitis pigmentosa 11	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25002598.	NM_015629.4(PRPF31):c.1074-1G>C GRCh37: Chr19:54631679 GRCh38: Chr19:54128304	PRPF31		Retinitis pigmentosa 11	Likely pathogenic (Feb 9, 2023)	criteria provided, single submitter
Select item 18051029.	NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu) GRCh37: Chr19:54621747 GRCh38: Chr19:54118367	PRPF31, PRPF31-AS1	P30L	Retinitis pigmentosa 11	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 168609910.	NM_015629.4(PRPF31):c.205del (p.Glu69fs) GRCh37: Chr19:54621979 GRCh38: Chr19:54118599	PRPF31, PRPF31-AS1	E69fs	Retinitis pigmentosa 11	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168462711.	NM_015629.4(PRPF31):c.945+2T>G GRCh37: Chr19:54629994 GRCh38: Chr19:54126619	PRPF31		Retinitis pigmentosa 11	Likely pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 146221612.	NM_015629.4(PRPF31):c.528G>A (p.Gly176=) GRCh37: Chr19:54627128 GRCh38: Chr19:54123749	PRPF31-AS1, PRPF31		not provided, Retinitis pigmentosa 11	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145631713.	NM_015629.4(PRPF31):c.528-39_531del GRCh37: Chr19:54627082-54627124 GRCh38: Chr19:54123703-54123745	PRPF31		not provided	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 133398814.	NM_015629.4(PRPF31):c.267del (p.Glu89fs) GRCh37: Chr19:54625266 GRCh38: Chr19:54121887	PRPF31, PRPF31-AS1	E89fs	Retinitis pigmentosa 11	Likely pathogenic (Jul 22, 2020)	criteria provided, single submitter
Select item 121388415.	NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met) GRCh37: Chr19:54632553 GRCh38: Chr19:54129178	PRPF31	T423M	not provided, Retinitis pigmentosa 11	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121388316.	NM_015629.4(PRPF31):c.-9+1G>A GRCh37: Chr19:54619178 GRCh38: Chr19:54115798	PRPF31		Retinitis pigmentosa 11	Likely pathogenic (Jun 21, 2021)	criteria provided, single submitter
Select item 118452217.	NM_015629.4(PRPF31):c.1374+569C>G GRCh37: Chr19:54633314 GRCh38: Chr19:54129939	PRPF31		Retinitis pigmentosa 11	Likely pathogenic	no assertion criteria provided
Select item 117272318.	NM_015629.4(PRPF31):c.176del (p.Met59fs) GRCh37: Chr19:54621834 GRCh38: Chr19:54118454	PRPF31, PRPF31-AS1	M59fs	Retinitis pigmentosa 11	Pathogenic (May 25, 2021)	criteria provided, single submitter
Select item 106579019.	NM_015629.4(PRPF31):c.855+5G>A GRCh37: Chr19:54628040 GRCh38: Chr19:54124661	PRPF31, PRPF31-AS1		not provided, Retinitis pigmentosa 11	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 106576420.	NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs) GRCh37: Chr19:54621715-54621716 GRCh38: Chr19:54118335-54118336	PRPF31, PRPF31-AS1	E27fs	Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106573921.	NM_015629.4(PRPF31):c.1276-2del GRCh37: Chr19:54632645 GRCh38: Chr19:54129270	PRPF31		Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106571322.	NM_015629.4(PRPF31):c.238+1_238+7del GRCh37: Chr19:54622014-54622020 GRCh38: Chr19:54118634-54118640	PRPF31, PRPF31-AS1		Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106571123.	NM_015629.4(PRPF31):c.633del (p.Met212fs) GRCh37: Chr19:54627232 GRCh38: Chr19:54123853	PRPF31, PRPF31-AS1	M212fs	Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106567624.	NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) GRCh37: Chr19:54626935 GRCh38: Chr19:54123556	PRPF31, PRPF31-AS1	Q175*	not provided, Retinitis pigmentosa 11	Pathogenic/Likely pathogenic (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106566025.	NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg) GRCh37: Chr19:54629940 GRCh38: Chr19:54126565	PRPF31	K298R	Retinitis pigmentosa 11	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 106565426.	NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs) GRCh37: Chr19:54632496-54632505 GRCh38: Chr19:54129121-54129130	PRPF31	V407fs	Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106565327.	NM_015629.4(PRPF31):c.136del (p.Asp46fs) GRCh37: Chr19:54621791 GRCh38: Chr19:54118411	PRPF31, PRPF31-AS1	D46fs	Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106565228.	NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs) GRCh37: Chr19:54627140-54627141 GRCh38: Chr19:54123761-54123762	PRPF31, PRPF31-AS1	E185fs	Retinitis pigmentosa 11	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 99246729.	NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) GRCh37: Chr19:54621798 GRCh38: Chr19:54118418	PRPF31, PRPF31-AS1	S47*	Retinitis pigmentosa 11	Likely pathogenic (May 6, 2020)	no assertion criteria provided
Select item 98744430.	NM_015629.4(PRPF31):c.1146+2T>G GRCh37: Chr19:54631754 GRCh38: Chr19:54128379	PRPF31		Retinitis pigmentosa 11, not provided	Conflicting interpretations of pathogenicity (May 2, 2023)	criteria provided, conflicting interpretations
Select item 93117831.	NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) GRCh37: Chr19:54627937 GRCh38: Chr19:54124558	PRPF31, PRPF31-AS1	G253R	not provided, Retinitis pigmentosa 11	Pathogenic/Likely pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86675832.	NM_015629.4(PRPF31):c.946-2A>G GRCh37: Chr19:54631446 GRCh38: Chr19:54128071	PRPF31		not provided, Retinitis pigmentosa 11, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86637133.	NM_015629.4(PRPF31):c.239-1G>A GRCh37: Chr19:54625238 GRCh38: Chr19:54121859	PRPF31, PRPF31-AS1		Retinal dystrophy, Retinitis pigmentosa 11, not provided	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86615734.	NM_015629.4(PRPF31):c.239-1G>T GRCh37: Chr19:54625238 GRCh38: Chr19:54121859	PRPF31, PRPF31-AS1		Retinal dystrophy, Retinitis pigmentosa 11	Likely pathogenic (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86597635.	NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) GRCh37: Chr19:54629942 GRCh38: Chr19:54126567	PRPF31	C299R	Retinal dystrophy, not provided, Retinitis pigmentosa, Retinitis pigmentosa 11	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82989736.	NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) GRCh37: Chr19:54631712-54631719 GRCh38: Chr19:54128337-54128344	PRPF31	I371fs	Retinitis pigmentosa 11	Likely pathogenic (Sep 12, 2019)	no assertion criteria provided
Select item 81191937.	NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) GRCh37: Chr19:54629982 GRCh38: Chr19:54126607	PRPF31	T312I	Retinitis pigmentosa 11, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62396638.	NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) GRCh37: Chr19:54631746 GRCh38: Chr19:54128371	PRPF31		Retinal dystrophy, Retinitis pigmentosa 11, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 59908539.	GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1 GRCh37: Chr19:54618744-54622073	PRPF31, TFPT		Retinitis pigmentosa 11	Pathogenic (Feb 28, 2018)	no assertion criteria provided
Select item 56048840.	NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) GRCh37: Chr19:54629957 GRCh38: Chr19:54126582	PRPF31	R304C	not provided, Retinal dystrophy	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 56048741.	NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter) GRCh37: Chr19:54632662 GRCh38: Chr19:54129287	PRPF31	Q431*	not provided	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 54603542.	NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) GRCh37: Chr19:54631494 GRCh38: Chr19:54128119	PRPF31	W331*	not provided, Retinitis pigmentosa 11, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52251543.	NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) GRCh37: Chr19:54631509 GRCh38: Chr19:54128134	PRPF31	P336R	Retinitis pigmentosa 11	Uncertain significance (Oct 13, 2017)	no assertion criteria provided
Select item 50044344.	NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) GRCh37: Chr19:54627232 GRCh38: Chr19:54123853	PRPF31	R211Q	not provided, Retinitis pigmentosa 11	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44448545.	NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) GRCh37: Chr19:54629950 GRCh38: Chr19:54126575	PRPF31, PRPF31-AS1	A302fs	not provided, Retinitis pigmentosa 11	Pathogenic/Likely pathogenic (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33011146.	NM_015629.4(PRPF31):c.1467C>T (p.Val489=) GRCh37: Chr19:54634830 GRCh38: Chr19:54131399	PRPF31		not provided, Retinitis pigmentosa, Retinitis pigmentosa 11	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33010747.	NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) GRCh37: Chr19:54632515 GRCh38: Chr19:54129140	PRPF31		not provided, Retinitis pigmentosa, Retinitis pigmentosa 11	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33010048.	NM_015629.4(PRPF31):c.735C>T (p.Pro245=) GRCh37: Chr19:54627915 GRCh38: Chr19:54124536	PRPF31, PRPF31-AS1		not provided, Retinitis pigmentosa, Retinitis pigmentosa 11	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33009749.	NM_015629.4(PRPF31):c.420+7G>A GRCh37: Chr19:54625980 GRCh38: Chr19:54122601	PRPF31, PRPF31-AS1		not provided, Retinitis pigmentosa 11, Retinitis pigmentosa	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22475850.	NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) GRCh37: Chr19:54631726 GRCh38: Chr19:54128351	PRPF31	Q374*	not provided	Pathogenic (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19822051.	NM_015629.4(PRPF31):c.527+9G>T GRCh37: Chr19:54626948 GRCh38: Chr19:54123569	PRPF31, PRPF31-AS1		not provided, Retinitis pigmentosa, Retinitis pigmentosa 11	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 16753752.	NM_015629.4(PRPF31):c.1147-9= GRCh37: Chr19:54632423 GRCh38: Chr19:54129048	PRPF31		Retinitis pigmentosa, not specified, not provided, Retinitis pigmentosa 11	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 436653.	NM_015629.4(PRPF31):c.1374+654C>G GRCh37: Chr19:54633399 GRCh38: Chr19:54130024	PRPF31		not provided	Pathogenic (Dec 1, 2017)	criteria provided, single submitter
Select item 436554.	NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del) GRCh37: Chr19:54625879-54625890 GRCh38: Chr19:54122500-54122511	PRPF31, PRPF31-AS1		Retinitis pigmentosa 11	Pathogenic (Sep 1, 2003)	no assertion criteria provided
Select item 436455.	NM_015629.4(PRPF31):c.770dup (p.Thr258fs) GRCh37: Chr19:54627948-54627949 GRCh38: Chr19:54124569-54124570	PRPF31, PRPF31-AS1	T258fs	Retinitis pigmentosa 11	Pathogenic (Aug 1, 2001)	no assertion criteria provided
Select item 436356.	NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet) GRCh37: Chr19:54627145-54627146 GRCh38: Chr19:54123766-54123767	PRPF31, PRPF31-AS1		Retinitis pigmentosa 11	Pathogenic (Aug 1, 2001)	no assertion criteria provided
Select item 436257.	NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu) GRCh37: Chr19:54627181 GRCh38: Chr19:54123802	PRPF31, PRPF31-AS1	A194E	Retinitis pigmentosa 11	Pathogenic (Apr 6, 2007)	no assertion criteria provided
Select item 436058.	NM_015629.4(PRPF31):c.527+3A>G GRCh37: Chr19:54626942 GRCh38: Chr19:54123563	PRPF31, PRPF31-AS1		Retinal dystrophy, not provided, Retinitis pigmentosa 11	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 435959.	NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro) GRCh37: Chr19:54627246 GRCh38: Chr19:54123867	PRPF31, PRPF31-AS1	A216P	Retinitis pigmentosa 11	Pathogenic (Jun 1, 2009)	no assertion criteria provided
Select item 435860.	NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs) GRCh37: Chr19:54631719-54631729 GRCh38: Chr19:54128344-54128354	PRPF31	R372fs	Retinitis pigmentosa 11	Pathogenic (Aug 1, 2001)	no assertion criteria provided

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Items: 60