ClinVar for MedGen (Select 324636) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17096551.	NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr) GRCh37: Chr1:213032467 GRCh38: Chr1:212859125	FLVCR1	A225T	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 17096172.	NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg) GRCh37: Chr1:213032435 GRCh38: Chr1:212859093	FLVCR1	Q214R	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 10843683.	NM_014053.4(FLVCR1):c.1525+12C>T GRCh37: Chr1:213062611 GRCh38: Chr1:212889269	FLVCR1		not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10332564.	NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val) GRCh37: Chr1:213032030 GRCh38: Chr1:212858688	FLVCR1, LOC129932486	A79V	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jun 13, 2018)	criteria provided, single submitter
Select item 10312365.	NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu) GRCh37: Chr1:213062590 GRCh38: Chr1:212889248	FLVCR1	I506L	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 15, 2020)	criteria provided, single submitter
Select item 8876316.	NM_017791.3(FLVCR2):c.*1672G>A GRCh37: Chr14:76114487 GRCh38: Chr14:75648144	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876307.	NM_017791.3(FLVCR2):c.*1613C>T GRCh37: Chr14:76114428 GRCh38: Chr14:75648085	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8876298.	NM_017791.3(FLVCR2):c.*1517T>C GRCh37: Chr14:76114332 GRCh38: Chr14:75647989	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8875699.	NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) GRCh37: Chr14:76107340 GRCh38: Chr14:75640997	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 88756810.	NM_017791.3(FLVCR2):c.953-14G>A GRCh37: Chr14:76099958 GRCh38: Chr14:75633615	FLVCR2		not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88744711.	NM_017791.3(FLVCR2):c.*1322G>A GRCh37: Chr14:76114137 GRCh38: Chr14:75647794	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88744612.	NM_017791.3(FLVCR2):c.*1319C>T GRCh37: Chr14:76114134 GRCh38: Chr14:75647791	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88744513.	NM_017791.3(FLVCR2):c.*1071G>T GRCh37: Chr14:76113886 GRCh38: Chr14:75647543	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88744414.	NM_017791.3(FLVCR2):c.*1070T>C GRCh37: Chr14:76113885 GRCh38: Chr14:75647542	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88744315.	NM_017791.3(FLVCR2):c.*1003G>A GRCh37: Chr14:76113818 GRCh38: Chr14:75647475	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88744216.	NM_017791.3(FLVCR2):c.*991T>C GRCh37: Chr14:76113806 GRCh38: Chr14:75647463	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88737317.	NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) GRCh37: Chr14:76088518 GRCh38: Chr14:75622175	FLVCR2	I256V, I51V	Posterior column ataxia-retinitis pigmentosa syndrome, Inborn genetic diseases	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88737218.	NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) GRCh37: Chr14:76088479 GRCh38: Chr14:75622136	FLVCR2	R243W, R38W	Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88737119.	NM_017791.3(FLVCR2):c.669+8G>C GRCh37: Chr14:76045992 GRCh38: Chr14:75579649	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88637920.	NM_017791.3(FLVCR2):c.360C>G (p.Ala120=) GRCh37: Chr14:76045675 GRCh38: Chr14:75579332	FLVCR2, FLVCR2-AS1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88637821.	NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) GRCh37: Chr14:76045592 GRCh38: Chr14:75579249	FLVCR2, FLVCR2-AS1	C93R	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88535122.	NM_017791.3(FLVCR2):c.*952T>G GRCh37: Chr14:76113767 GRCh38: Chr14:75647424	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88535023.	NM_017791.3(FLVCR2):c.*910C>A GRCh37: Chr14:76113725 GRCh38: Chr14:75647382	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Mar 20, 2018)	criteria provided, single submitter
Select item 88534924.	NM_017791.3(FLVCR2):c.*893T>C GRCh37: Chr14:76113708 GRCh38: Chr14:75647365	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88534825.	NM_017791.3(FLVCR2):c.*856T>C GRCh37: Chr14:76113671 GRCh38: Chr14:75647328	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88534726.	NM_017791.3(FLVCR2):c.*675A>G GRCh37: Chr14:76113490 GRCh38: Chr14:75647147	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88534627.	NM_017791.3(FLVCR2):c.*644G>A GRCh37: Chr14:76113459 GRCh38: Chr14:75647116	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 88441828.	NM_017791.3(FLVCR2):c.*513A>G GRCh37: Chr14:76113328 GRCh38: Chr14:75646985	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88441729.	NM_017791.3(FLVCR2):c.*510A>G GRCh37: Chr14:76113325 GRCh38: Chr14:75646982	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88441630.	NM_017791.3(FLVCR2):c.*254T>C GRCh37: Chr14:76113069 GRCh38: Chr14:75646726	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88435431.	NM_017791.3(FLVCR2):c.69G>A (p.Ala23=) GRCh37: Chr14:76045384 GRCh38: Chr14:75579041	FLVCR2, FLVCR2-AS1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87690932.	NM_014053.4(FLVCR1):c.*3756C>T GRCh37: Chr1:213072388 GRCh38: Chr1:212899046	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87686033.	NM_014053.4(FLVCR1):c.*2409C>T GRCh37: Chr1:213071041 GRCh38: Chr1:212897699	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87680034.	NM_014053.4(FLVCR1):c.*1021A>G GRCh37: Chr1:213069653 GRCh38: Chr1:212896311	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87676335.	NM_014053.4(FLVCR1):c.*123T>C GRCh37: Chr1:213068755 GRCh38: Chr1:212895413	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87676236.	NM_014053.4(FLVCR1):c.*114C>T GRCh37: Chr1:213068746 GRCh38: Chr1:212895404	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87676137.	NM_014053.4(FLVCR1):c.1525+13G>A GRCh37: Chr1:213062612 GRCh38: Chr1:212889270	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 87670938.	NM_014053.4(FLVCR1):c.-104G>A GRCh37: Chr1:213031691 GRCh38: Chr1:212858349	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87670839.	NM_014053.4(FLVCR1):c.-154G>T GRCh37: Chr1:213031641 GRCh38: Chr1:212858299	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87670740.	NM_014053.4(FLVCR1):c.-166G>C GRCh37: Chr1:213031629 GRCh38: Chr1:212858287	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87670641.	NM_014053.4(FLVCR1):c.-168C>G GRCh37: Chr1:213031627 GRCh38: Chr1:212858285	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87591442.	NM_014053.4(FLVCR1):c.*3337G>C GRCh37: Chr1:213071969 GRCh38: Chr1:212898627	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87586343.	NM_014053.4(FLVCR1):c.*1954A>G GRCh37: Chr1:213070586 GRCh38: Chr1:212897244	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87586244.	NM_014053.4(FLVCR1):c.*1920T>A GRCh37: Chr1:213070552 GRCh38: Chr1:212897210	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87581145.	NM_014053.4(FLVCR1):c.*847T>C GRCh37: Chr1:213069479 GRCh38: Chr1:212896137	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87581046.	NM_014053.4(FLVCR1):c.*785C>T GRCh37: Chr1:213069417 GRCh38: Chr1:212896075	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87580947.	NM_014053.4(FLVCR1):c.*740T>G GRCh37: Chr1:213069372 GRCh38: Chr1:212896030	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87576148.	NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg) GRCh37: Chr1:213061917 GRCh38: Chr1:212888575	FLVCR1	L465R	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87498949.	NM_014053.4(FLVCR1):c.*3032G>T GRCh37: Chr1:213071664 GRCh38: Chr1:212898322	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87498850.	NM_014053.4(FLVCR1):c.*2954T>C GRCh37: Chr1:213071586 GRCh38: Chr1:212898244	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87498751.	NM_014053.4(FLVCR1):c.*2860C>A GRCh37: Chr1:213071492 GRCh38: Chr1:212898150	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87493052.	NM_014053.4(FLVCR1):c.*1738G>A GRCh37: Chr1:213070370 GRCh38: Chr1:212897028	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87492953.	NM_014053.4(FLVCR1):c.*1549A>G GRCh37: Chr1:213070181 GRCh38: Chr1:212896839	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87487654.	NM_014053.4(FLVCR1):c.*665C>T GRCh37: Chr1:213069297 GRCh38: Chr1:212895955	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87487555.	NM_014053.4(FLVCR1):c.*500G>A GRCh37: Chr1:213069132 GRCh38: Chr1:212895790	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87487456.	NM_014053.4(FLVCR1):c.*422G>A GRCh37: Chr1:213069054 GRCh38: Chr1:212895712	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87483257.	NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val) GRCh37: Chr1:213046022 GRCh38: Chr1:212872680	FLVCR1	F296V	Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87483158.	NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn) GRCh37: Chr1:213037163 GRCh38: Chr1:212863821	FLVCR1	Y279N	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87483059.	NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu) GRCh37: Chr1:213037160 GRCh38: Chr1:212863818	FLVCR1	F278L	not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87482960.	NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala) GRCh37: Chr1:213037107 GRCh38: Chr1:212863765	FLVCR1	V260A	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87406261.	NM_014053.4(FLVCR1):c.*2704T>G GRCh37: Chr1:213071336 GRCh38: Chr1:212897994	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 87406162.	NM_014053.4(FLVCR1):c.*2591G>C GRCh37: Chr1:213071223 GRCh38: Chr1:212897881	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87406063.	NM_014053.4(FLVCR1):c.*2540T>C GRCh37: Chr1:213071172 GRCh38: Chr1:212897830	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87405964.	NM_014053.4(FLVCR1):c.*2495C>T GRCh37: Chr1:213071127 GRCh38: Chr1:212897785	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87399565.	NM_014053.4(FLVCR1):c.*1548T>C GRCh37: Chr1:213070180 GRCh38: Chr1:212896838	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87399466.	NM_014053.4(FLVCR1):c.*1543C>G GRCh37: Chr1:213070175 GRCh38: Chr1:212896833	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87399367.	NM_014053.4(FLVCR1):c.*1454G>A GRCh37: Chr1:213070086 GRCh38: Chr1:212896744	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87399268.	NM_014053.4(FLVCR1):c.*1246T>C GRCh37: Chr1:213069878 GRCh38: Chr1:212896536	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87392969.	NM_014053.4(FLVCR1):c.*326T>C GRCh37: Chr1:213068958 GRCh38: Chr1:212895616	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87387870.	NM_014053.4(FLVCR1):c.270C>A (p.Thr90=) GRCh37: Chr1:213032064 GRCh38: Chr1:212858722	FLVCR1, LOC129932486		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87387771.	NM_014053.4(FLVCR1):c.241C>T (p.Leu81=) GRCh37: Chr1:213032035 GRCh38: Chr1:212858693	FLVCR1, LOC129932486		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 87387672.	NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser) GRCh37: Chr1:213031876 GRCh38: Chr1:212858534	FLVCR1, LOC129932486	G28S	Posterior column ataxia-retinitis pigmentosa syndrome, not provided	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87349373.	NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) GRCh37: Chr1:213046155 GRCh38: Chr1:212872813	FLVCR1	T340I	not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Oct 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87256374.	NM_014053.4(FLVCR1):c.755del (p.Gly252fs) GRCh37: Chr1:213037082 GRCh38: Chr1:212863740	FLVCR1	G252fs	not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Pathogenic/Likely pathogenic (Oct 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 80634575.	NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) GRCh37: Chr1:213061271 GRCh38: Chr1:212887929	FLVCR1	G412A	not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80160776.	NM_014053.4(FLVCR1):c.1413+82TTG[6] GRCh37: Chr1:213062017-213062018 GRCh38: Chr1:212888675-212888676	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 77449177.	NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) GRCh37: Chr14:76090978 GRCh38: Chr14:75624635	FLVCR2	P279S, P74S	Posterior column ataxia-retinitis pigmentosa syndrome, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63171678.	NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys) GRCh37: Chr14:76112815 GRCh38: Chr14:75646472	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Dec 11, 2018)	criteria provided, single submitter
Select item 63171579.	NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu) GRCh37: Chr14:76112814 GRCh38: Chr14:75646471	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Dec 11, 2018)	criteria provided, single submitter
Select item 63171480.	NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs) GRCh37: Chr14:76105727-76105728 GRCh38: Chr14:75639384-75639385	FLVCR2	L181fs, L386fs	Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Aug 25, 2017)	criteria provided, single submitter
Select item 52230181.	NM_014053.4(FLVCR1):c.1594-13_1594-10dup GRCh37: Chr1:213068542-213068543 GRCh38: Chr1:212895200-212895201	FLVCR1		not provided	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 52137282.	NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) GRCh37: Chr1:213031796 GRCh38: Chr1:212858454	FLVCR1	M1T	Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome, not provided	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51831283.	NM_014053.4(FLVCR1):c.1307+19T>A GRCh37: Chr1:213061362 GRCh38: Chr1:212888020	FLVCR1		not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48894084.	NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) GRCh37: Chr1:213068348 GRCh38: Chr1:212895006	FLVCR1	R516*	not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 45015985.	NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) GRCh37: Chr1:213058700 GRCh38: Chr1:212885358	FLVCR1	I386M	Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44735286.	NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) GRCh37: Chr1:213046073 GRCh38: Chr1:212872731	FLVCR1	D313N	Posterior column ataxia-retinitis pigmentosa syndrome, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37476887.	NM_014053.4(FLVCR1):c.1092+5G>A GRCh37: Chr1:213056785 GRCh38: Chr1:212883443	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome, FLVCR1-related condition, not provided, Retinitis pigmentosa, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36886588.	NM_014053.3(FLVCR1):c.4085_4086delTT GRCh37: Chr1:213072717-213072718 GRCh38: Chr1:212899375-212899376	FLVCR1		Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31443589.	NM_017791.3(FLVCR2):c.*1633A>C GRCh37: Chr14:76114448 GRCh38: Chr14:75648105	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31443490.	NM_017791.3(FLVCR2):c.*1588A>C GRCh37: Chr14:76114403 GRCh38: Chr14:75648060	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31443191.	NM_017791.3(FLVCR2):c.*1098C>A GRCh37: Chr14:76113913 GRCh38: Chr14:75647570	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31442992.	NM_017791.3(FLVCR2):c.*1040C>T GRCh37: Chr14:76113855 GRCh38: Chr14:75647512	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31442893.	NM_017791.3(FLVCR2):c.*756A>G GRCh37: Chr14:76113571 GRCh38: Chr14:75647228	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31442694.	NM_017791.3(FLVCR2):c.*573C>T GRCh37: Chr14:76113388 GRCh38: Chr14:75647045	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31442595.	NM_017791.3(FLVCR2):c.*517C>T GRCh37: Chr14:76113332 GRCh38: Chr14:75646989	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31442496.	NM_017791.3(FLVCR2):c.*379T>C GRCh37: Chr14:76113194 GRCh38: Chr14:75646851	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31442397.	NM_017791.3(FLVCR2):c.*187T>C GRCh37: Chr14:76113002 GRCh38: Chr14:75646659	FLVCR2		not provided, Posterior column ataxia-retinitis pigmentosa syndrome	Likely benign (Jan 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 31442298.	NM_017791.3(FLVCR2):c.*155C>T GRCh37: Chr14:76112970 GRCh38: Chr14:75646627	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31442199.	NM_017791.3(FLVCR2):c.*98T>C GRCh37: Chr14:76112913 GRCh38: Chr14:75646570	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 314420100.	NM_017791.3(FLVCR2):c.*18C>T GRCh37: Chr14:76112833 GRCh38: Chr14:75646490	FLVCR2		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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