C1qtnf5 Variant Search Result - Rat Genome Database

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222 records found for search term C1qtnf5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11617793	CV324912	single nucleotide variant	NM_015645.5(C1QTNF5):c.-2680G>A	Retinal degeneration [RCV000307664]	likely benign	11	119346557	119346557	Human	2	name
11624935	CV324914	single nucleotide variant	NM_015645.5(C1QTNF5):c.-2701G>A	Retinal degeneration [RCV000391949]\|not provided [RCV002292515]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119346578	119346578	Human	2	name
11582825	CV325720	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-2C>T	Isolated microphthalmia 5 [RCV001103728]\|Isolated microphthalmia 6 [RCV000319969]\|Late-onset retinal degeneration [RCV000262525]	uncertain significance	11	119340399	119340399	Human	3	name
28900038	CV867202	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*1T>C	Isolated microphthalmia 5 [RCV001103632]\|Late-onset retinal degeneration [RCV001103631]	uncertain significance	11	119339330	119339330	Human	2	name
11585252	CV318744	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*34C>G	Isolated microphthalmia 5 [RCV000337306]\|Late-onset retinal degeneration [RCV001108788]\|Retinal degeneration [RCV000279798]	benign\|likely benign\|uncertain significance	11	119339297	119339297	Human	4	name
11586058	CV318758	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-32A>T	Isolated microphthalmia 5 [RCV000285074]\|Late-onset retinal degeneration [RCV001103729]\|Retinal degeneration [RCV000377178]	uncertain significance	11	119340429	119340429	Human	4	name
11586482	CV318775	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-48G>C	Isolated microphthalmia 6 [RCV000345340]\|Retinal degeneration [RCV000288073]	likely benign\|uncertain significance	11	119340699	119340699	Human	3	name
11653326	CV324854	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-68G>A	Isolated microphthalmia 5 [RCV000310442]\|Late-onset retinal degeneration [RCV001105678]\|Retinal degeneration [RCV000393555]	uncertain significance	11	119340719	119340719	Human	4	name
11591768	CV325706	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*62A>T	Isolated microphthalmia 6 [RCV000372083]\|Retinal degeneration [RCV000332420]\|not provided [RCV004703596]	likely benign	11	119339269	119339269	Human	3	name
28904649	CV867206	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-48G>A	Isolated microphthalmia 5 [RCV001105677]\|Late-onset retinal degeneration [RCV001105676]	uncertain significance	11	119340699	119340699	Human	2	name
11600115	CV312750	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*345G>T	Isolated microphthalmia 5 [RCV001106625]\|Late-onset retinal degeneration [RCV000271321]	uncertain significance	11	119338986	119338986	Human	2	name
11650605	CV312754	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*158C>A	Isolated microphthalmia 5 [RCV001108787]\|Late-onset retinal degeneration [RCV001108786]\|Retinal degeneration [RCV000293776]	uncertain significance	11	119339173	119339173	Human	4	name
11604931	CV318784	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-199G>A	Retinal degeneration [RCV000314159]	likely benign	11	119340850	119340850	Human	2	name
11658418	CV324870	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-165G>T	Isolated microphthalmia 5 [RCV000393540]\|Late-onset retinal degeneration [RCV001105679]\|Retinal degeneration [RCV000348972]	uncertain significance	11	119340816	119340816	Human	4	name
11655875	CV325705	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*251C>T	Isolated microphthalmia 5 [RCV000385816]\|Late-onset retinal degeneration [RCV001106626]\|Retinal degeneration [RCV000328975]	uncertain significance	11	119339080	119339080	Human	4	name
26909404	CV857247	single nucleotide variant	NM_015645.5(C1QTNF5):c.-1121-5C>A	Retinal dystrophy [RCV001073401]	uncertain significance	11	119341777	119341777	Human	2	name
28906398	CV867200	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*236C>T	Isolated microphthalmia 5 [RCV001106628]\|Late-onset retinal degeneration [RCV001106627]	uncertain significance	11	119339095	119339095	Human	2	name
28906402	CV867201	single nucleotide variant	NM_001278431.2(C1QTNF5):c.*211C>A	Isolated microphthalmia 5 [RCV001108785]\|Late-onset retinal degeneration [RCV001106629]	uncertain significance	11	119339120	119339120	Human	2	name
126759042	CV1030112	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+6A>G	not provided [RCV001340014]	uncertain significance	11	119340178	119340178	Human		name
151725295	CV1356563	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-7C>G	not provided [RCV001910258]	likely benign\|uncertain significance	11	119339855	119339855	Human		name
151731659	CV1512173	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-3C>T	not provided [RCV002021362]	uncertain significance	11	119339851	119339851	Human		name
152108230	CV1529952	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-4G>A	not provided [RCV002196433]	likely benign	11	119339852	119339852	Human		name
152149021	CV1566438	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-8C>T	not provided [RCV002139236]	likely benign	11	119339856	119339856	Human		name
156205903	CV2110271	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-8C>G	not provided [RCV002957553]	uncertain significance	11	119339856	119339856	Human		name
402515199	CV2991546	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-7C>A	not provided [RCV003689786]	likely benign	11	119339855	119339855	Human		name
11580356	CV325719	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+9G>A	Isolated microphthalmia 5 [RCV000369214]\|Late-onset retinal degeneration [RCV001106725]\|Retinal degeneration [RCV000330755]\|not provided [RCV001517885]	benign\|likely benign\|uncertain significance	11	119340175	119340175	Human	4	name
126731269	CV994362	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+4A>G	not provided [RCV001294349]	uncertain significance	11	119340180	119340180	Human		name
152047832	CV1549470	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+13C>G	not provided [RCV002166479]	likely benign	11	119340171	119340171	Human		name
152137041	CV1563330	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+13C>T	not provided [RCV002200086]	likely benign	11	119340171	119340171	Human		name
152156545	CV1573082	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-13G>A	not provided [RCV002180219]	likely benign	11	119339861	119339861	Human		name
152063809	CV1575242	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-13G>T	not provided [RCV002110470]	likely benign	11	119339861	119339861	Human		name
152111061	CV1626082	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-14C>T	not provided [RCV002153060]	likely benign	11	119339862	119339862	Human		name
156298414	CV2017182	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+13C>A	not provided [RCV002715946]	likely benign	11	119340171	119340171	Human		name
156241188	CV2043653	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214+16C>T	not provided [RCV002805682]	benign	11	119340168	119340168	Human		name
155980283	CV2073923	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-19C>T	not provided [RCV002842483]	likely benign	11	119339867	119339867	Human		name
156246978	CV2174333	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-18G>C	not provided [RCV003043651]	likely benign	11	119339866	119339866	Human		name
11657583	CV324853	single nucleotide variant	NM_001278431.2(C1QTNF5):c.-43-13G>A	Isolated microphthalmia 5 [RCV000380577]\|Late-onset retinal degeneration [RCV001103730]\|Retinal degeneration [RCV000342277]	uncertain significance	11	119340453	119340453	Human	4	name
597974955	CV3832143	single nucleotide variant	NM_001278431.2(C1QTNF5):c.215-13G>C	not provided [RCV005168879]	likely benign	11	119339861	119339861	Human		name
126768018	CV1009553	single nucleotide variant	NM_001278431.2(C1QTNF5):c.39G>A (p.Ala13=)	not provided [RCV001321117]	likely benign\|uncertain significance	11	119340359	119340359	Human		name
126753181	CV1009555	single nucleotide variant	NM_001278431.2(C1QTNF5):c.7C>A (p.Pro3Thr)	not provided [RCV001327241]	uncertain significance	11	119340391	119340391	Human		name
126768302	CV1009556	single nucleotide variant	NM_001278431.2(C1QTNF5):c.6G>C (p.Arg2Ser)	not provided [RCV001321288]	uncertain significance	11	119340392	119340392	Human		name
127278417	CV1077926	single nucleotide variant	NM_001278431.2(C1QTNF5):c.87G>T (p.Pro29=)	not provided [RCV001408461]	likely benign	11	119340311	119340311	Human		name
127280643	CV1077927	single nucleotide variant	NM_001278431.2(C1QTNF5):c.66C>T (p.Asn22=)	not provided [RCV001409928]	likely benign	11	119340332	119340332	Human		name
127336360	CV1121127	single nucleotide variant	NM_001278431.2(C1QTNF5):c.55C>T (p.Leu19=)	not provided [RCV001474904]	likely benign	11	119340343	119340343	Human		name
151850252	CV1465723	single nucleotide variant	NM_001278431.2(C1QTNF5):c.7C>T (p.Pro3Ser)	not provided [RCV002033074]	uncertain significance	11	119340391	119340391	Human		name
152026219	CV1540670	single nucleotide variant	NM_001278431.2(C1QTNF5):c.36G>A (p.Leu12=)	not provided [RCV002104482]	benign	11	119340362	119340362	Human		name
152101105	CV1546917	single nucleotide variant	NM_001278431.2(C1QTNF5):c.36G>C (p.Leu12=)	not provided [RCV002151823]	likely benign	11	119340362	119340362	Human		name
152034994	CV1584743	inversion	NM_001278431.2(C1QTNF5):c.214+12_214+13inv	not provided [RCV002125187]	likely benign	11	119340171	119340172	Human		name
152114309	CV1651177	duplication	NM_001278431.2(C1QTNF5):c.215-32_215-11dup	not provided [RCV002153460]	likely benign	11	119339858	119339859	Human		name
405211837	CV2974357	single nucleotide variant	NM_001278431.2(C1QTNF5):c.5G>A (p.Arg2Lys)	not provided [RCV003679511]	uncertain significance	11	119340393	119340393	Human		name
402512048	CV3039702	single nucleotide variant	NM_001278431.2(C1QTNF5):c.30G>C (p.Leu10=)	not provided [RCV003715771]	likely benign	11	119340368	119340368	Human		name
404977941	CV3127300	single nucleotide variant	NM_001278431.2(C1QTNF5):c.8C>T (p.Pro3Leu)	not provided [RCV003825524]	uncertain significance	11	119340390	119340390	Human		name
26910521	CV856703	single nucleotide variant	NM_001278431.2(C1QTNF5):c.96C>G (p.Pro32=)	Retinal dystrophy [RCV001075083]\|not provided [RCV002557920]	likely benign\|uncertain significance	11	119340302	119340302	Human	2	name
126757711	CV1030113	single nucleotide variant	NM_001278431.2(C1QTNF5):c.25C>G (p.Leu9Val)	not provided [RCV001339646]	uncertain significance	11	119340373	119340373	Human		name
127243461	CV1099584	single nucleotide variant	NM_001278431.2(C1QTNF5):c.123T>C (p.His41=)	not provided [RCV001434823]	likely benign	11	119340275	119340275	Human		name
127295812	CV1121126	single nucleotide variant	NM_001278431.2(C1QTNF5):c.285C>G (p.Ala95=)	not provided [RCV001477175]	likely benign	11	119339778	119339778	Human		name
127327038	CV1141973	single nucleotide variant	NM_001278431.2(C1QTNF5):c.297G>T (p.Ser99=)	not provided [RCV001486205]	likely benign	11	119339766	119339766	Human		name
151778563	CV1342854	single nucleotide variant	NM_001278431.2(C1QTNF5):c.17T>A (p.Val6Asp)	not provided [RCV001988918]	uncertain significance	11	119340381	119340381	Human		name
151747100	CV1485303	single nucleotide variant	NM_001278431.2(C1QTNF5):c.204C>T (p.Gly68=)	not provided [RCV002006438]	likely benign\|uncertain significance	11	119340194	119340194	Human		name
152147861	CV1576841	single nucleotide variant	NM_001278431.2(C1QTNF5):c.174G>T (p.Ala58=)	not provided [RCV002178994]	likely benign	11	119340224	119340224	Human		name
152089160	CV1577302	single nucleotide variant	NM_001278431.2(C1QTNF5):c.240C>T (p.Pro80=)	not provided [RCV002212483]	likely benign	11	119339823	119339823	Human		name
152132525	CV1578685	single nucleotide variant	NM_001278431.2(C1QTNF5):c.192G>A (p.Glu64=)	not provided [RCV002155731]	likely benign	11	119340206	119340206	Human		name
10050295	CV191707	single nucleotide variant	NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=)	Isolated microphthalmia 5 [RCV001106721]\|Late-onset retinal degeneration [RCV001106720]\|not provided [RCV001521423]\|not specified [RCV000174932]	benign\|likely benign\|uncertain significance	11	119339769	119339769	Human	2	name
156413408	CV1969061	single nucleotide variant	NM_001278431.2(C1QTNF5):c.111G>A (p.Thr37=)	not provided [RCV002608828]	likely benign	11	119340287	119340287	Human		name
156250088	CV2041010	single nucleotide variant	NM_001278431.2(C1QTNF5):c.276C>T (p.Thr92=)	not provided [RCV002805976]	likely benign	11	119339787	119339787	Human		name
156169124	CV2133496	single nucleotide variant	NM_001278431.2(C1QTNF5):c.222G>A (p.Pro74=)	not provided [RCV003005331]	likely benign	11	119339841	119339841	Human		name
405167345	CV2857715	single nucleotide variant	NM_001278431.2(C1QTNF5):c.132G>A (p.Gln44=)	not provided [RCV003541894]	likely benign	11	119340266	119340266	Human		name
405144433	CV2942248	single nucleotide variant	NM_001278431.2(C1QTNF5):c.258G>A (p.Ala86=)	not provided [RCV003669543]	likely benign	11	119339805	119339805	Human		name
405129452	CV3010775	single nucleotide variant	NM_001278431.2(C1QTNF5):c.213G>A (p.Pro71=)	not provided [RCV003701540]	uncertain significance	11	119340185	119340185	Human		name
405169398	CV3029247	single nucleotide variant	NM_001278431.2(C1QTNF5):c.213G>C (p.Pro71=)	not provided [RCV003704562]	uncertain significance	11	119340185	119340185	Human		name
405166690	CV3160514	single nucleotide variant	NM_001278431.2(C1QTNF5):c.141G>A (p.Pro47=)	not provided [RCV003857394]	likely benign	11	119340257	119340257	Human		name
404989874	CV3180013	single nucleotide variant	NM_001278431.2(C1QTNF5):c.285C>A (p.Ala95=)	not provided [RCV003881491]	likely benign	11	119339778	119339778	Human		name
597876401	CV3766632	single nucleotide variant	NM_001278431.2(C1QTNF5):c.222G>T (p.Pro74=)	not provided [RCV005108572]	likely benign	11	119339841	119339841	Human		name
597902433	CV3779255	single nucleotide variant	NM_001278431.2(C1QTNF5):c.180G>C (p.Gly60=)	not provided [RCV005127332]	likely benign	11	119340218	119340218	Human		name
597972558	CV3790381	single nucleotide variant	NM_001278431.2(C1QTNF5):c.291G>A (p.Glu97=)	not provided [RCV005142804]	likely benign	11	119339772	119339772	Human		name
597973602	CV3801474	single nucleotide variant	NM_001278431.2(C1QTNF5):c.135C>G (p.Gly45=)	not provided [RCV005143463]	likely benign	11	119340263	119340263	Human		name
597975567	CV3828576	single nucleotide variant	NM_001278431.2(C1QTNF5):c.228T>A (p.Pro76=)	not provided [RCV005169205]	likely benign	11	119339835	119339835	Human		name
15137546	CV752480	single nucleotide variant	NM_001278431.2(C1QTNF5):c.147C>T (p.Arg49=)	not provided [RCV000921190]	likely benign	11	119340251	119340251	Human		name
26896604	CV838081	single nucleotide variant	NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=)	C1QTNF5-related disorder [RCV003906170]\|not provided [RCV001064804]	likely benign\|uncertain significance	11	119340200	119340200	Human	1	name , trait , alternate_id
26912883	CV838082	single nucleotide variant	NM_001278431.2(C1QTNF5):c.186G>A (p.Pro62=)	not provided [RCV001034887]	likely benign\|uncertain significance	11	119340212	119340212	Human		name
126765687	CV1009554	single nucleotide variant	NM_001278431.2(C1QTNF5):c.37G>A (p.Ala13Thr)	not provided [RCV001320142]	uncertain significance	11	119340361	119340361	Human		name
127281620	CV1077925	single nucleotide variant	NM_001278431.2(C1QTNF5):c.642C>T (p.Tyr214=)	not provided [RCV001410604]	likely benign	11	119339421	119339421	Human		name
127281063	CV1099581	single nucleotide variant	NM_001278431.2(C1QTNF5):c.592A>C (p.Arg198=)	not provided [RCV001446874]	likely benign	11	119339471	119339471	Human		name
127270947	CV1099582	single nucleotide variant	NM_001278431.2(C1QTNF5):c.420C>T (p.Thr140=)	not provided [RCV001430782]	likely benign	11	119339643	119339643	Human		name
127278001	CV1099583	single nucleotide variant	NM_001278431.2(C1QTNF5):c.307C>A (p.Arg103=)	not provided [RCV001444727]	likely benign	11	119339756	119339756	Human		name
127326064	CV1141970	single nucleotide variant	NM_001278431.2(C1QTNF5):c.576G>T (p.Ser192=)	not provided [RCV001485943]	likely benign	11	119339487	119339487	Human		name
127302427	CV1141971	single nucleotide variant	NM_001278431.2(C1QTNF5):c.540G>A (p.Gln180=)	not provided [RCV001499079]	likely benign	11	119339523	119339523	Human		name
127297155	CV1141972	single nucleotide variant	NM_001278431.2(C1QTNF5):c.498T>C (p.Phe166=)	not provided [RCV001497711]	likely benign	11	119339565	119339565	Human		name
151858585	CV1343791	single nucleotide variant	NM_001278431.2(C1QTNF5):c.38C>A (p.Ala13Glu)	not provided [RCV002034084]	uncertain significance	11	119340360	119340360	Human		name
151891603	CV1368102	single nucleotide variant	NM_001278431.2(C1QTNF5):c.481C>A (p.Arg161=)	not provided [RCV001888778]	likely benign\|uncertain significance	11	119339582	119339582	Human		name
151780992	CV1426591	single nucleotide variant	NM_001278431.2(C1QTNF5):c.66C>G (p.Asn22Lys)	Inborn genetic diseases [RCV005321049]\|Retinal dystrophy [RCV004816867]\|not provided [RCV002009744]	uncertain significance	11	119340332	119340332	Human	3	name
152049864	CV1540396	single nucleotide variant	NM_001278431.2(C1QTNF5):c.552G>A (p.Gly184=)	not provided [RCV002108817]	likely benign	11	119339511	119339511	Human		name
152072581	CV1551668	single nucleotide variant	NM_001278431.2(C1QTNF5):c.576G>C (p.Ser192=)	not provided [RCV002075303]	likely benign	11	119339487	119339487	Human		name
152129255	CV1584272	single nucleotide variant	NM_001278431.2(C1QTNF5):c.414C>T (p.Ala138=)	not provided [RCV002082639]	likely benign	11	119339649	119339649	Human		name
152067626	CV1620814	single nucleotide variant	NM_001278431.2(C1QTNF5):c.516C>A (p.Gly172=)	not provided [RCV002191368]	likely benign	11	119339547	119339547	Human		name
156208893	CV1902257	single nucleotide variant	NM_001278431.2(C1QTNF5):c.390G>A (p.Val130=)	not provided [RCV003084514]	likely benign	11	119339673	119339673	Human		name
156220291	CV2015466	single nucleotide variant	NM_001278431.2(C1QTNF5):c.711C>T (p.His237=)	not provided [RCV002700980]	likely benign	11	119339352	119339352	Human		name
156185411	CV2020651	single nucleotide variant	NM_001278431.2(C1QTNF5):c.351G>A (p.Pro117=)	not provided [RCV002710915]	likely benign	11	119339712	119339712	Human		name
156151042	CV2023055	single nucleotide variant	NM_001278431.2(C1QTNF5):c.76A>G (p.Ser26Gly)	Inborn genetic diseases [RCV003382931]\|Retinal dystrophy [RCV004817108]\|not provided [RCV002741225]	uncertain significance	11	119340322	119340322	Human	3	name
156151070	CV2023056	single nucleotide variant	NM_001278431.2(C1QTNF5):c.71T>C (p.Ile24Thr)	Inborn genetic diseases [RCV003382932]\|Retinal dystrophy [RCV004817109]\|not provided [RCV002741226]	uncertain significance	11	119340327	119340327	Human	3	name
155949462	CV2046576	single nucleotide variant	NM_001278431.2(C1QTNF5):c.49C>T (p.Pro17Ser)	not provided [RCV002775692]	uncertain significance	11	119340349	119340349	Human		name
156028540	CV2058952	single nucleotide variant	NM_001278431.2(C1QTNF5):c.597G>A (p.Leu199=)	not provided [RCV002795950]	likely benign	11	119339466	119339466	Human		name
405111775	CV2938828	single nucleotide variant	NM_001278431.2(C1QTNF5):c.354G>C (p.Pro118=)	not provided [RCV003666400]	likely benign	11	119339709	119339709	Human		name
405115260	CV3019354	single nucleotide variant	NM_001278431.2(C1QTNF5):c.648C>T (p.Gly216=)	C1QTNF5-related disorder [RCV003901279]\|not provided [RCV003700171]	likely benign	11	119339415	119339415	Human	1	name , trait , alternate_id
405149871	CV3063614	single nucleotide variant	NM_001278431.2(C1QTNF5):c.630T>C (p.Gly210=)	not provided [RCV003726340]	likely benign	11	119339433	119339433	Human		name
11592636	CV312766	single nucleotide variant	NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=)	Isolated microphthalmia 5 [RCV000391982]\|Late-onset retinal degeneration [RCV001103634]\|Retinal degeneration [RCV000340845]\|not provided [RCV001482327]	likely benign\|uncertain significance	11	119339496	119339496	Human	4	name
405089264	CV3138179	single nucleotide variant	NM_001278431.2(C1QTNF5):c.714C>T (p.Ser238=)	not provided [RCV003834697]	likely benign	11	119339349	119339349	Human		name
405208597	CV3145723	single nucleotide variant	NM_001278431.2(C1QTNF5):c.411C>T (p.Asp137=)	not provided [RCV003845453]	likely benign	11	119339652	119339652	Human		name
11661121	CV318745	single nucleotide variant	NM_001278431.2(C1QTNF5):c.55C>G (p.Leu19Val)	Isolated microphthalmia 5 [RCV000373650]\|Late-onset retinal degeneration [RCV001108889]	uncertain significance	11	119340343	119340343	Human	2	name
405853217	CV3393650	single nucleotide variant	NM_001278431.2(C1QTNF5):c.549G>A (p.Gly183=)	not provided [RCV004546380]	likely benign	11	119339514	119339514	Human		name
596945583	CV3407551	single nucleotide variant	NM_001278431.2(C1QTNF5):c.83G>A (p.Cys28Tyr)	Retinal dystrophy [RCV004818644]	uncertain significance	11	119340315	119340315	Human	2	name
596939236	CV3407728	single nucleotide variant	NM_001278431.2(C1QTNF5):c.70A>G (p.Ile24Val)	Retinal dystrophy [RCV004814188]	uncertain significance	11	119340328	119340328	Human	2	name
597836704	CV3739884	single nucleotide variant	NM_001278431.2(C1QTNF5):c.423C>T (p.Gly141=)	not provided [RCV005064104]	uncertain significance	11	119339640	119339640	Human		name
597902283	CV3741477	single nucleotide variant	NM_001278431.2(C1QTNF5):c.375C>T (p.Phe125=)	not provided [RCV005072448]	likely benign	11	119339688	119339688	Human		name
597879591	CV3813830	single nucleotide variant	NM_001278431.2(C1QTNF5):c.426G>A (p.Lys142=)	not provided [RCV005149573]	likely benign	11	119339637	119339637	Human		name
597860369	CV3817269	single nucleotide variant	NM_001278431.2(C1QTNF5):c.492G>A (p.Leu164=)	not provided [RCV005146649]	likely benign	11	119339571	119339571	Human		name
597975697	CV3828646	single nucleotide variant	NM_001278431.2(C1QTNF5):c.663C>T (p.Ile221=)	not provided [RCV005169275]	likely benign	11	119339400	119339400	Human		name
597831485	CV3830700	single nucleotide variant	NM_001278431.2(C1QTNF5):c.381C>T (p.Arg127=)	not provided [RCV005170098]	likely benign	11	119339682	119339682	Human		name
13522898	CV493405	single nucleotide variant	NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)	C1QTNF5-related disorder [RCV003905553]\|not provided [RCV000592327]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119339757	119339757	Human	1	name , trait , alternate_id
15192852	CV768259	single nucleotide variant	NM_001278431.2(C1QTNF5):c.432C>G (p.Thr144=)	not provided [RCV000933199]	likely benign	11	119339631	119339631	Human		name
26913112	CV838083	deletion	NM_001278431.2(C1QTNF5):c.152del (p.Gly51fs)	not provided [RCV001035199]	uncertain significance	11	119340246	119340246	Human		name
28904435	CV867203	single nucleotide variant	NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=)	C1QTNF5-related disorder [RCV003928706]\|Isolated microphthalmia 5 [RCV001105576]\|Late-onset retinal degeneration [RCV001105575]\|not provided [RCV002069737]	likely benign\|uncertain significance	11	119339709	119339709	Human	2	name , trait , alternate_id
38483512	CV935423	single nucleotide variant	NM_001278431.2(C1QTNF5):c.64A>G (p.Asn22Asp)	not provided [RCV001207674]	uncertain significance	11	119340334	119340334	Human		name
126753138	CV1009551	single nucleotide variant	NM_001278431.2(C1QTNF5):c.235G>C (p.Asp79His)	not provided [RCV001316428]	uncertain significance	11	119339828	119339828	Human		name
126749041	CV1009552	single nucleotide variant	NM_001278431.2(C1QTNF5):c.109A>C (p.Thr37Pro)	not provided [RCV001326455]	uncertain significance	11	119340289	119340289	Human		name
126741637	CV1020818	deletion	NM_001278431.2(C1QTNF5):c.583del (p.Ala195fs)	Late-onset retinal degeneration [RCV001336303]	pathogenic	11	119339480	119339480	Human		name
151815145	CV1349981	single nucleotide variant	NM_001278431.2(C1QTNF5):c.212C>G (p.Pro71Arg)	not provided [RCV002012830]	uncertain significance	11	119340186	119340186	Human		name
151882434	CV1371280	single nucleotide variant	NM_001278431.2(C1QTNF5):c.238C>A (p.Pro80Thr)	not provided [RCV001886726]	uncertain significance	11	119339825	119339825	Human		name
151881529	CV1375631	single nucleotide variant	NM_001278431.2(C1QTNF5):c.245C>A (p.Pro82Gln)	not provided [RCV001961751]	uncertain significance	11	119339818	119339818	Human		name
151715457	CV1392713	single nucleotide variant	NM_001278431.2(C1QTNF5):c.104C>A (p.Pro35Gln)	not provided [RCV001908882]	uncertain significance	11	119340294	119340294	Human		name
151751123	CV1415912	single nucleotide variant	NM_001278431.2(C1QTNF5):c.278G>C (p.Gly93Ala)	not provided [RCV001927530]	uncertain significance	11	119339785	119339785	Human		name
151809677	CV1417260	single nucleotide variant	NM_001278431.2(C1QTNF5):c.211C>G (p.Pro71Ala)	not provided [RCV002028847]	uncertain significance	11	119340187	119340187	Human		name
151783791	CV1434614	single nucleotide variant	NM_001278431.2(C1QTNF5):c.172G>A (p.Ala58Thr)	not provided [RCV001897480]	uncertain significance	11	119340226	119340226	Human		name
151848219	CV1450922	single nucleotide variant	NM_001278431.2(C1QTNF5):c.275C>T (p.Thr92Ile)	not provided [RCV001957622]	uncertain significance	11	119339788	119339788	Human		name
151736367	CV1465991	single nucleotide variant	NM_001278431.2(C1QTNF5):c.194A>G (p.Lys65Arg)	not provided [RCV002041759]	uncertain significance	11	119340204	119340204	Human		name
151853887	CV1485234	single nucleotide variant	NM_001278431.2(C1QTNF5):c.163C>T (p.Arg55Cys)	not provided [RCV002033526]	uncertain significance	11	119340235	119340235	Human		name
156263347	CV1960751	single nucleotide variant	NM_001278431.2(C1QTNF5):c.262C>A (p.Pro88Thr)	not provided [RCV002576920]	uncertain significance	11	119339801	119339801	Human		name
155921014	CV1991281	single nucleotide variant	NM_001278431.2(C1QTNF5):c.241G>A (p.Gly81Arg)	not provided [RCV002614562]	uncertain significance	11	119339822	119339822	Human		name
156227353	CV2006107	single nucleotide variant	NM_001278431.2(C1QTNF5):c.220C>T (p.Pro74Ser)	not provided [RCV002667452]	uncertain significance	11	119339843	119339843	Human		name
156092344	CV2016462	single nucleotide variant	NM_001278431.2(C1QTNF5):c.284C>A (p.Ala95Asp)	not provided [RCV002706359]	uncertain significance	11	119339779	119339779	Human		name
156373249	CV2059374	single nucleotide variant	NM_001278431.2(C1QTNF5):c.293G>T (p.Cys98Phe)	not provided [RCV002814468]	uncertain significance	11	119339770	119339770	Human		name
155917250	CV2063225	single nucleotide variant	NM_001278431.2(C1QTNF5):c.152G>C (p.Gly51Ala)	not provided [RCV002838129]	uncertain significance	11	119340246	119340246	Human		name
156181432	CV2255097	single nucleotide variant	NM_001278431.2(C1QTNF5):c.199G>A (p.Glu67Lys)	Inborn genetic diseases [RCV002788639]	uncertain significance	11	119340199	119340199	Human	1	name
401910193	CV2809942	single nucleotide variant	NM_001278431.2(C1QTNF5):c.116G>A (p.Gly39Asp)	not provided [RCV003424848]	uncertain significance	11	119340282	119340282	Human		name
402516147	CV2936396	single nucleotide variant	NM_001278431.2(C1QTNF5):c.248G>A (p.Arg83Gln)	not provided [RCV003662965]	uncertain significance	11	119339815	119339815	Human		name
404994048	CV2996023	single nucleotide variant	NM_001278431.2(C1QTNF5):c.196G>A (p.Gly66Ser)	not provided [RCV003692567]	uncertain significance	11	119340202	119340202	Human		name
402522089	CV3011185	single nucleotide variant	NM_001278431.2(C1QTNF5):c.110C>T (p.Thr37Met)	not provided [RCV003716458]	uncertain significance	11	119340288	119340288	Human		name
405244406	CV3050597	single nucleotide variant	NM_001278431.2(C1QTNF5):c.239C>G (p.Pro80Arg)	not provided [RCV003719975]	uncertain significance	11	119339824	119339824	Human		name
405167777	CV3160572	single nucleotide variant	NM_001278431.2(C1QTNF5):c.214G>A (p.Gly72Arg)	not provided [RCV003857452]	uncertain significance	11	119340184	119340184	Human		name
11647571	CV324848	single nucleotide variant	NM_001278431.2(C1QTNF5):c.128G>A (p.Ser43Asn)	Isolated microphthalmia 5 [RCV000316651]\|Late-onset retinal degeneration [RCV001108888]\|Retinal degeneration [RCV000276993]	uncertain significance	11	119340270	119340270	Human	4	name
11646882	CV325714	single nucleotide variant	NM_001278431.2(C1QTNF5):c.244C>A (p.Pro82Thr)	Isolated microphthalmia 5 [RCV000273405]\|Late-onset retinal degeneration [RCV001106722]	uncertain significance	11	119339819	119339819	Human	2	name
405732959	CV3295046	single nucleotide variant	NM_001278431.2(C1QTNF5):c.190G>A (p.Glu64Lys)	Inborn genetic diseases [RCV004429591]\|not provided [RCV005104579]	uncertain significance	11	119340208	119340208	Human	1	name
405732966	CV3295047	single nucleotide variant	NM_001278431.2(C1QTNF5):c.205G>A (p.Gly69Arg)	Inborn genetic diseases [RCV004429592]	uncertain significance	11	119340193	119340193	Human	1	name
408383223	CV3518353	single nucleotide variant	NM_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser)	Late-onset retinal degeneration [RCV004759676]	uncertain significance	11	119340256	119340256	Human	1	name
597638138	CV3643826	single nucleotide variant	NM_001278431.2(C1QTNF5):c.148G>T (p.Asp50Tyr)	Inborn genetic diseases [RCV004970362]	uncertain significance	11	119340250	119340250	Human	1	name
597861049	CV3748739	single nucleotide variant	NM_001278431.2(C1QTNF5):c.271C>T (p.Pro91Ser)	not provided [RCV005067371]	uncertain significance	11	119339792	119339792	Human		name
597957019	CV3754760	single nucleotide variant	NM_001278431.2(C1QTNF5):c.206G>A (p.Gly69Glu)	not provided [RCV005080610]	uncertain significance	11	119340192	119340192	Human		name
597929637	CV3780144	deletion	NM_001278431.2(C1QTNF5):c.575del (p.Ser192fs)	not provided [RCV005116464]	uncertain significance	11	119339488	119339488	Human		name
597932138	CV3862003	single nucleotide variant	NM_001278431.2(C1QTNF5):c.237C>A (p.Asp79Glu)	not provided [RCV005206867]	uncertain significance	11	119339826	119339826	Human		name
13516988	CV491178	duplication	NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs)	C1QTNF5-related disorder [RCV003915714]\|not provided [RCV000883989]\|not specified [RCV000596199]	benign\|likely benign	11	119339479	119339480	Human	1	name , trait , alternate_id
28906561	CV867204	single nucleotide variant	NM_001278431.2(C1QTNF5):c.236A>G (p.Asp79Gly)	Isolated microphthalmia 5 [RCV001106724]\|Late-onset retinal degeneration [RCV001106723]\|Retinal dystrophy [RCV004813770]\|not provided [RCV003565452]	uncertain significance	11	119339827	119339827	Human	4	name
28910099	CV867205	single nucleotide variant	NM_001278431.2(C1QTNF5):c.212C>A (p.Pro71Gln)	Isolated microphthalmia 5 [RCV001108887]\|Late-onset retinal degeneration [RCV001108886]\|not provided [RCV001856453]	uncertain significance	11	119340186	119340186	Human	2	name
126752897	CV994361	single nucleotide variant	NM_001278431.2(C1QTNF5):c.250G>C (p.Gly84Arg)	not provided [RCV001307301]	uncertain significance	11	119339813	119339813	Human		name
126770999	CV1030111	single nucleotide variant	NM_001278431.2(C1QTNF5):c.358G>A (p.Asp120Asn)	not provided [RCV001344788]	uncertain significance	11	119339705	119339705	Human		name
126920534	CV1047081	single nucleotide variant	NM_001278431.2(C1QTNF5):c.598G>C (p.Glu200Gln)	not provided [RCV001362936]	uncertain significance	11	119339465	119339465	Human		name
126919508	CV1047082	single nucleotide variant	NM_001278431.2(C1QTNF5):c.548G>C (p.Gly183Ala)	not provided [RCV001373270]	uncertain significance	11	119339515	119339515	Human		name
151722207	CV1348082	single nucleotide variant	NM_001278431.2(C1QTNF5):c.703G>T (p.Asp235Tyr)	not provided [RCV001966143]	uncertain significance	11	119339360	119339360	Human		name
151767407	CV1367334	single nucleotide variant	NM_001278431.2(C1QTNF5):c.548G>A (p.Gly183Glu)	not provided [RCV002025029]	uncertain significance	11	119339515	119339515	Human		name
151746264	CV1402706	single nucleotide variant	NM_001278431.2(C1QTNF5):c.505G>A (p.Val169Met)	not provided [RCV001912454]	uncertain significance	11	119339558	119339558	Human		name
151667822	CV1414509	single nucleotide variant	NM_001278431.2(C1QTNF5):c.685G>A (p.Gly229Arg)	not provided [RCV001870664]	uncertain significance	11	119339378	119339378	Human		name
151753141	CV1424586	single nucleotide variant	NM_001278431.2(C1QTNF5):c.302C>T (p.Pro101Leu)	not provided [RCV001894544]	uncertain significance	11	119339761	119339761	Human		name
151871894	CV1429885	single nucleotide variant	NM_001278431.2(C1QTNF5):c.599A>G (p.Glu200Gly)	not provided [RCV002019061]	uncertain significance	11	119339464	119339464	Human		name
151833417	CV1432475	single nucleotide variant	NM_001278431.2(C1QTNF5):c.625G>A (p.Val209Met)	not provided [RCV001993932]	uncertain significance	11	119339438	119339438	Human		name
151748177	CV1432651	single nucleotide variant	NM_001278431.2(C1QTNF5):c.397C>A (p.Gln133Lys)	not provided [RCV001985984]	uncertain significance	11	119339666	119339666	Human		name
151801353	CV1475195	single nucleotide variant	NM_001278431.2(C1QTNF5):c.589G>C (p.Val197Leu)	not provided [RCV001952958]	uncertain significance	11	119339474	119339474	Human		name
151780454	CV1480309	single nucleotide variant	NM_001278431.2(C1QTNF5):c.635G>C (p.Gly212Ala)	Inborn genetic diseases [RCV005308607]\|not provided [RCV001972032]	uncertain significance	11	119339428	119339428	Human	1	name
151770813	CV1502529	single nucleotide variant	NM_001278431.2(C1QTNF5):c.539A>C (p.Gln180Pro)	not provided [RCV001896319]	uncertain significance	11	119339524	119339524	Human		name
151783146	CV1512024	single nucleotide variant	NM_001278431.2(C1QTNF5):c.317T>C (p.Phe106Ser)	not provided [RCV002009927]	uncertain significance	11	119339746	119339746	Human		name
153001478	CV1679356	single nucleotide variant	NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)	Late-onset retinal degeneration [RCV002250440]\|Retinal dystrophy [RCV004816986]	pathogenic\|likely pathogenic	11	119339501	119339501	Human	3	name
8556650	CV17165	single nucleotide variant	NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	Late-onset retinal degeneration [RCV000002208]\|Retinal dystrophy [RCV001074679]\|not provided [RCV001245416]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	119339574	119339574	Human	3	name
155944836	CV1875269	single nucleotide variant	NM_001278431.2(C1QTNF5):c.329G>T (p.Arg110Leu)	not provided [RCV003073780]	uncertain significance	11	119339734	119339734	Human		name
156085368	CV1956554	single nucleotide variant	NM_001278431.2(C1QTNF5):c.382G>C (p.Val128Leu)	not provided [RCV002570043]	uncertain significance	11	119339681	119339681	Human		name
156415535	CV1958680	single nucleotide variant	NM_001278431.2(C1QTNF5):c.379C>A (p.Arg127Ser)	not provided [RCV002589222]	uncertain significance	11	119339684	119339684	Human		name
156227324	CV2006106	single nucleotide variant	NM_001278431.2(C1QTNF5):c.304C>T (p.Pro102Ser)	not provided [RCV002667451]	uncertain significance	11	119339759	119339759	Human		name
156165325	CV2056580	single nucleotide variant	NM_001278431.2(C1QTNF5):c.503T>C (p.Leu168Pro)	not provided [RCV002801778]	uncertain significance	11	119339560	119339560	Human		name
155982310	CV2157421	single nucleotide variant	NM_001278431.2(C1QTNF5):c.601C>T (p.Pro201Ser)	not provided [RCV003016437]	uncertain significance	11	119339462	119339462	Human		name
155950918	CV2164979	single nucleotide variant	NM_001278431.2(C1QTNF5):c.470C>T (p.Ala157Val)	not provided [RCV003032431]	uncertain significance	11	119339593	119339593	Human		name
156050993	CV2186752	single nucleotide variant	NM_001278431.2(C1QTNF5):c.629G>A (p.Gly210Asp)	not provided [RCV003036909]	uncertain significance	11	119339434	119339434	Human		name
405239698	CV2993466	single nucleotide variant	NM_001278431.2(C1QTNF5):c.305C>T (p.Pro102Leu)	not provided [RCV003718931]	uncertain significance	11	119339758	119339758	Human		name
11585836	CV312755	single nucleotide variant	NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr)	Isolated microphthalmia 5 [RCV000283460]\|Late-onset retinal degeneration [RCV001103633]\|Retinal degeneration [RCV000399727]\|not provided [RCV001295070]	uncertain significance	11	119339419	119339419	Human	4	name
405051103	CV3138075	single nucleotide variant	NM_001278431.2(C1QTNF5):c.566C>T (p.Ala189Val)	not provided [RCV003832113]	uncertain significance	11	119339497	119339497	Human		name
405196883	CV3146675	single nucleotide variant	NM_001278431.2(C1QTNF5):c.449T>C (p.Val150Ala)	not provided [RCV003844030]	uncertain significance	11	119339614	119339614	Human		name
405228838	CV3180440	single nucleotide variant	NM_001278431.2(C1QTNF5):c.321C>G (p.Ser107Arg)	not provided [RCV003864861]	uncertain significance	11	119339742	119339742	Human		name
405282120	CV3224748	single nucleotide variant	NM_001278431.2(C1QTNF5):c.613G>C (p.Val205Leu)	Late-onset retinal degeneration [RCV003989085]	likely benign	11	119339450	119339450	Human	1	name
11589212	CV324842	single nucleotide variant	NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys)	Isolated microphthalmia 5 [RCV000308722]\|Late-onset retinal degeneration [RCV001105572]\|Retinal degeneration [RCV000391979]\|not provided [RCV001859799]	uncertain significance	11	119339669	119339669	Human	4	name
11622877	CV324846	single nucleotide variant	NM_001278431.2(C1QTNF5):c.341G>A (p.Arg114Gln)	Isolated microphthalmia 5 [RCV001106719]\|Late-onset retinal degeneration [RCV001105577]\|Retinal degeneration [RCV000365765]\|not provided [RCV001518803]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119339722	119339722	Human	4	name
11588762	CV325708	single nucleotide variant	NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile)	Isolated microphthalmia 5 [RCV000362385]\|Late-onset retinal degeneration [RCV001103635]\|Retinal degeneration [RCV000305385]\|not provided [RCV001345266]	uncertain significance	11	119339648	119339648	Human	4	name
407489698	CV3495356	single nucleotide variant	NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr)	Late-onset retinal degeneration [RCV004691666]	uncertain significance	11	119339629	119339629	Human	1	name
617153479	CV3703440	single nucleotide variant	NM_001278431.2(C1QTNF5):c.310T>C (p.Ser104Pro)	Retinitis pigmentosa [RCV005419836]	uncertain significance	11	119339753	119339753	Human	2	name
12834955	CV371291	single nucleotide variant	NM_001278431.2(C1QTNF5):c.495G>C (p.Gln165His)	not provided [RCV000420843]	uncertain significance	11	119339568	119339568	Human		name
597830959	CV3743717	single nucleotide variant	NM_001278431.2(C1QTNF5):c.346C>T (p.Pro116Ser)	not provided [RCV005062534]	uncertain significance	11	119339717	119339717	Human		name
597897746	CV3782434	single nucleotide variant	NM_001278431.2(C1QTNF5):c.422G>C (p.Gly141Ala)	not provided [RCV005126659]	uncertain significance	11	119339641	119339641	Human		name
597904730	CV3784687	single nucleotide variant	NM_001278431.2(C1QTNF5):c.436C>A (p.Gln146Lys)	not provided [RCV005127738]	uncertain significance	11	119339627	119339627	Human		name
597922656	CV3812274	single nucleotide variant	NM_001278431.2(C1QTNF5):c.382G>A (p.Val128Met)	not provided [RCV005155911]	uncertain significance	11	119339681	119339681	Human		name
597912569	CV3817299	single nucleotide variant	NM_001278431.2(C1QTNF5):c.334G>A (p.Glu112Lys)	not provided [RCV005154501]	uncertain significance	11	119339729	119339729	Human		name
13435039	CV431749	single nucleotide variant	NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp)	Retinal dystrophy [RCV000504811]	likely pathogenic	11	119339494	119339494	Human	2	name
13435189	CV431750	single nucleotide variant	NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser)	Retinal dystrophy [RCV000505113]	likely pathogenic	11	119339507	119339507	Human	2	name
21404604	CV802174	single nucleotide variant	NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)	Late-onset retinal degeneration [RCV001005000]	likely pathogenic	11	119339501	119339501	Human	1	name
21404607	CV802175	single nucleotide variant	NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)	Late-onset retinal degeneration [RCV001005001]	uncertain significance	11	119339502	119339502	Human	1	name
26887715	CV838078	single nucleotide variant	NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys)	Isolated microphthalmia 5 [RCV001105574]\|Late-onset retinal degeneration [RCV001105573]\|Retinal dystrophy [RCV004813643]\|not provided [RCV001056719]	uncertain significance	11	119339670	119339670	Human	4	name
26887700	CV838079	single nucleotide variant	NM_001278431.2(C1QTNF5):c.356C>T (p.Ser119Phe)	not provided [RCV001056702]	uncertain significance	11	119339707	119339707	Human		name
26910530	CV856698	single nucleotide variant	NM_001278431.2(C1QTNF5):c.628G>C (p.Gly210Arg)	Retinal dystrophy [RCV001075095]	uncertain significance	11	119339435	119339435	Human	2	name
26909684	CV856699	single nucleotide variant	NM_001278431.2(C1QTNF5):c.586A>G (p.Met196Val)	Retinal dystrophy [RCV001073833]	uncertain significance	11	119339477	119339477	Human	2	name
26909367	CV856700	single nucleotide variant	NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu)	Retinal dystrophy [RCV001073348]\|not provided [RCV001862496]	pathogenic\|uncertain significance	11	119339500	119339500	Human	2	name
26910938	CV856701	single nucleotide variant	NM_001278431.2(C1QTNF5):c.545T>C (p.Phe182Ser)	Retinal dystrophy [RCV001075686]	uncertain significance	11	119339518	119339518	Human	2	name
26909300	CV856702	single nucleotide variant	NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)	Retinal dystrophy [RCV001073255]\|not provided [RCV001240047]	pathogenic\|likely pathogenic	11	119339574	119339574	Human	2	name
126744900	CV994360	single nucleotide variant	NM_001278431.2(C1QTNF5):c.653A>T (p.Tyr218Phe)	not provided [RCV001305906]	uncertain significance	11	119339410	119339410	Human		name
127246289	CV1099585	microsatellite	NM_001278431.2(C1QTNF5):c.63CAA[1] (p.Asn22del)	not provided [RCV001424492]	likely benign	11	119340330	119340332	Human		name
126912300	CV1047080	microsatellite	NM_001278431.2(C1QTNF5):c.671_674del (p.Asp224fs)	not provided [RCV001369666]	uncertain significance	11	119339389	119339392	Human		name
126924528	CV1047083	microsatellite	NM_001278431.2(C1QTNF5):c.154CGCGACGGC[1] (p.49RDG[2])	not provided [RCV001367138]	uncertain significance	11	119340227	119340235	Human		name
26921390	CV838080	indel	NM_001278431.2(C1QTNF5):c.256_257delinsAT (p.Ala86Met)	not provided [RCV001049818]	uncertain significance	11	119339806	119339807	Human		name
38495895	CV947345	microsatellite	NM_001278431.2(C1QTNF5):c.154CGCGACGGC[3] (p.Gly57_Ala58insArgAspGly)	not provided [RCV001226032]	uncertain significance	11	119340226	119340227	Human		name

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