Hephl1 Variant Search Result - Rat Genome Database

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146 records found for search term Hephl1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150436548	CV1275180	single nucleotide variant	NM_001098672.2(HEPHL1):c.1232+9C>G	HEPHL1-related disorder [RCV003976038]\|Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702347]\|not provided [RCV004707687]	benign	11	94070551	94070551	Human	1	name , trait , alternate_id
150436555	CV1275181	single nucleotide variant	NM_001098672.2(HEPHL1):c.3046-35G>T	Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702348]\|not provided [RCV004707688]	benign	11	94110868	94110868	Human	1	name
152042252	CV1669979	deletion	NM_001098672.2(HEPHL1):c.1505-12_1511del	not provided [RCV002224881]	uncertain significance	11	94075157	94075175	Human		name
156078166	CV2248467	single nucleotide variant	NM_001098672.2(HEPHL1):c.7C>T (p.Arg3Trp)	not specified [RCV004119599]	uncertain significance	11	94021375	94021375	Human		name
8634438	CV89658	single nucleotide variant	NM_001098672.1(HEPHL1):c.96G>A (p.Gly32=)	Malignant melanoma [RCV000069755]	not provided	11	94021464	94021464	Human		name
401905649	CV2813677	single nucleotide variant	NM_001098672.2(HEPHL1):c.285C>G (p.Pro95=)	not provided [RCV003396016]	likely benign	11	94045787	94045787	Human		name
401929730	CV2813678	single nucleotide variant	NM_001098672.2(HEPHL1):c.573C>T (p.Asp191=)	not provided [RCV003390122]	likely benign	11	94063665	94063665	Human		name
405802868	CV3273650	single nucleotide variant	NM_001098672.2(HEPHL1):c.44T>C (p.Phe15Ser)	not specified [RCV004404146]	uncertain significance	11	94021412	94021412	Human		name
598247560	CV3978524	single nucleotide variant	NM_001098672.2(HEPHL1):c.86A>G (p.Tyr29Cys)	not specified [RCV005345315]	uncertain significance	11	94021454	94021454	Human		name
156328049	CV2219997	single nucleotide variant	NM_001098672.2(HEPHL1):c.257C>T (p.Thr86Ile)	not specified [RCV004095590]	uncertain significance	11	94045759	94045759	Human		name
156299429	CV2326058	single nucleotide variant	NM_001098672.2(HEPHL1):c.287G>C (p.Trp96Ser)	not specified [RCV004176261]	uncertain significance	11	94045789	94045789	Human		name
156155117	CV2374986	single nucleotide variant	NM_001098672.2(HEPHL1):c.204C>G (p.Asn68Lys)	not specified [RCV004227998]	uncertain significance	11	94045706	94045706	Human		name
329376229	CV2438041	single nucleotide variant	NM_001098672.2(HEPHL1):c.219T>G (p.Ile73Met)	not specified [RCV004263743]	uncertain significance	11	94045721	94045721	Human		name
401740291	CV2683315	single nucleotide variant	NM_001098672.2(HEPHL1):c.100G>T (p.Val34Leu)	not specified [RCV004288093]	uncertain significance	11	94021468	94021468	Human		name
401775009	CV2713736	single nucleotide variant	NM_001098672.2(HEPHL1):c.228G>T (p.Lys76Asn)	not specified [RCV004321086]	uncertain significance	11	94045730	94045730	Human		name
401929729	CV2813680	single nucleotide variant	NM_001098672.2(HEPHL1):c.2607T>C (p.Pro869=)	HEPHL1-related disorder [RCV003929034]\|not provided [RCV003390123]	likely benign	11	94102945	94102945	Human	1	name , trait , alternate_id
405260294	CV3190380	single nucleotide variant	NM_001098672.2(HEPHL1):c.241C>T (p.Arg81Cys)	HEPHL1-related disorder [RCV003894775]	likely benign	11	94045743	94045743	Human		name , trait , alternate_id
405287559	CV3205667	single nucleotide variant	NM_001098672.2(HEPHL1):c.2043C>T (p.His681=)	HEPHL1-related disorder [RCV003959794]	likely benign	11	94086152	94086152	Human		name , trait , alternate_id
405802827	CV3273628	single nucleotide variant	NM_001098672.2(HEPHL1):c.124C>T (p.Pro42Ser)	not specified [RCV004404124]	uncertain significance	11	94021492	94021492	Human		name
405802841	CV3273635	single nucleotide variant	NM_001098672.2(HEPHL1):c.215G>A (p.Ser72Asn)	not specified [RCV004404131]	uncertain significance	11	94045717	94045717	Human		name
407521527	CV3437068	single nucleotide variant	NM_001098672.2(HEPHL1):c.242G>A (p.Arg81His)	not specified [RCV004630393]	likely benign	11	94045744	94045744	Human		name
15152470	CV724811	single nucleotide variant	NM_001098672.2(HEPHL1):c.2262C>T (p.Phe754=)	HEPHL1-related disorder [RCV003930488]\|not provided [RCV000879814]	benign\|likely benign	11	94088936	94088936	Human	1	name , trait , alternate_id
150435937	CV1275179	single nucleotide variant	NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp)	HEPHL1-related disorder [RCV003976037]\|Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702211]\|not provided [RCV004707686]	benign	11	94064453	94064453	Human	1	name , trait , alternate_id
152035017	CV1670077	single nucleotide variant	NM_001098672.2(HEPHL1):c.364C>T (p.Arg122Ter)	not provided [RCV002223611]	likely pathogenic	11	94045866	94045866	Human		name
156111060	CV2261703	single nucleotide variant	NM_001098672.2(HEPHL1):c.991C>T (p.Leu331Phe)	not specified [RCV004126009]	uncertain significance	11	94067678	94067678	Human		name
156193825	CV2302026	single nucleotide variant	NM_001098672.2(HEPHL1):c.997A>G (p.Thr333Ala)	not specified [RCV004158794]	uncertain significance	11	94067684	94067684	Human		name
329379688	CV2456410	single nucleotide variant	NM_001098672.2(HEPHL1):c.518C>A (p.Ala173Glu)	not specified [RCV004275568]	uncertain significance	11	94063610	94063610	Human		name
401733135	CV2691212	single nucleotide variant	NM_001098672.2(HEPHL1):c.715T>C (p.Trp239Arg)	not specified [RCV004302986]	uncertain significance	11	94064417	94064417	Human		name
401905650	CV2813679	single nucleotide variant	NM_001098672.2(HEPHL1):c.851T>C (p.Met284Thr)	not provided [RCV003396017]	uncertain significance	11	94067538	94067538	Human		name
401905653	CV2813681	single nucleotide variant	NM_001098672.2(HEPHL1):c.3192G>A (p.Thr1064=)	not provided [RCV003396018]	likely benign	11	94111049	94111049	Human		name
401905654	CV2813682	single nucleotide variant	NM_001098672.2(HEPHL1):c.3270A>G (p.Pro1090=)	not provided [RCV003396019]	likely benign	11	94111598	94111598	Human		name
401943314	CV2840001	single nucleotide variant	NM_001098672.2(HEPHL1):c.391G>A (p.Val131Ile)	not provided [RCV003456788]	uncertain significance	11	94045893	94045893	Human		name
405280206	CV3191680	single nucleotide variant	NM_001098672.2(HEPHL1):c.3390G>A (p.Thr1130=)	HEPHL1-related disorder [RCV003919818]\|not provided [RCV004810587]	benign	11	94111804	94111804	Human	1	name , trait , alternate_id
405259192	CV3215281	single nucleotide variant	NM_001098672.2(HEPHL1):c.524C>T (p.Thr175Ile)	HEPHL1-related disorder [RCV003942316]	likely benign	11	94063616	94063616	Human		name , trait , alternate_id
405283182	CV3216967	single nucleotide variant	NM_001098672.2(HEPHL1):c.3228C>T (p.Ser1076=)	HEPHL1-related disorder [RCV003979118]	benign	11	94111556	94111556	Human		name , trait , alternate_id
405279134	CV3220566	single nucleotide variant	NM_001098672.2(HEPHL1):c.671G>A (p.Arg224Gln)	HEPHL1-related disorder [RCV003976739]	benign	11	94064373	94064373	Human		name , trait , alternate_id
405802866	CV3273649	single nucleotide variant	NM_001098672.2(HEPHL1):c.443G>C (p.Gly148Ala)	not specified [RCV004404145]	uncertain significance	11	94063535	94063535	Human		name
405802870	CV3273651	single nucleotide variant	NM_001098672.2(HEPHL1):c.713G>C (p.Ser238Thr)	not specified [RCV004404147]	uncertain significance	11	94064415	94064415	Human		name
405802872	CV3273652	single nucleotide variant	NM_001098672.2(HEPHL1):c.852G>A (p.Met284Ile)	not specified [RCV004404148]	uncertain significance	11	94067539	94067539	Human		name
407521535	CV3437070	single nucleotide variant	NM_001098672.2(HEPHL1):c.299T>G (p.Leu100Arg)	not specified [RCV004630395]	uncertain significance	11	94045801	94045801	Human		name
407510612	CV3437081	single nucleotide variant	NM_001098672.2(HEPHL1):c.661G>T (p.Asp221Tyr)	not specified [RCV004626177]	uncertain significance	11	94064363	94064363	Human		name
597760725	CV3689327	single nucleotide variant	NM_001098672.2(HEPHL1):c.380A>C (p.His127Pro)	not specified [RCV004925760]	uncertain significance	11	94045882	94045882	Human		name
597760731	CV3689328	single nucleotide variant	NM_001098672.2(HEPHL1):c.490T>G (p.Tyr164Asp)	not specified [RCV004925761]	uncertain significance	11	94063582	94063582	Human		name
597760756	CV3689333	single nucleotide variant	NM_001098672.2(HEPHL1):c.935C>A (p.Thr312Asn)	not specified [RCV004925766]	uncertain significance	11	94067622	94067622	Human		name
597760766	CV3689335	single nucleotide variant	NM_001098672.2(HEPHL1):c.631A>G (p.Ile211Val)	not specified [RCV004925768]	likely benign	11	94064333	94064333	Human		name
598274935	CV3978513	single nucleotide variant	NM_001098672.2(HEPHL1):c.398A>G (p.Tyr133Cys)	not specified [RCV005351663]	uncertain significance	11	94045900	94045900	Human		name
598247545	CV3978516	single nucleotide variant	NM_001098672.2(HEPHL1):c.568A>T (p.Ile190Phe)	not specified [RCV005345313]	uncertain significance	11	94063660	94063660	Human		name
598274951	CV3978522	single nucleotide variant	NM_001098672.2(HEPHL1):c.953A>G (p.His318Arg)	not specified [RCV005351670]	uncertain significance	11	94067640	94067640	Human		name
598247567	CV3978525	single nucleotide variant	NM_001098672.2(HEPHL1):c.653C>T (p.Thr218Ile)	not specified [RCV005345316]	uncertain significance	11	94064355	94064355	Human		name
152042259	CV1669980	single nucleotide variant	NM_001098672.2(HEPHL1):c.2993G>A (p.Ser998Asn)	not provided [RCV002224882]	uncertain significance	11	94106078	94106078	Human		name
153349098	CV1693567	single nucleotide variant	NM_001098672.2(HEPHL1):c.1808G>A (p.Trp603Ter)	not provided [RCV002275490]	uncertain significance	11	94082509	94082509	Human		name
156365792	CV2193273	single nucleotide variant	NM_001098672.2(HEPHL1):c.1540G>A (p.Glu514Lys)	not specified [RCV004071251]	uncertain significance	11	94075209	94075209	Human		name
156188539	CV2205823	single nucleotide variant	NM_001098672.2(HEPHL1):c.2564T>A (p.Met855Lys)	not specified [RCV004076223]	uncertain significance	11	94101324	94101324	Human		name
156037777	CV2218681	single nucleotide variant	NM_001098672.2(HEPHL1):c.1976T>C (p.Ile659Thr)	not specified [RCV004090930]	uncertain significance	11	94086085	94086085	Human		name
156184764	CV2222537	single nucleotide variant	NM_001098672.2(HEPHL1):c.2114A>G (p.His705Arg)	not specified [RCV004099375]	uncertain significance	11	94088788	94088788	Human		name
156222465	CV2232737	single nucleotide variant	NM_001098672.2(HEPHL1):c.1304A>G (p.Glu435Gly)	not specified [RCV004101390]	uncertain significance	11	94073096	94073096	Human		name
156084278	CV2249253	single nucleotide variant	NM_001098672.2(HEPHL1):c.2023T>C (p.Ser675Pro)	not specified [RCV004118287]	uncertain significance	11	94086132	94086132	Human		name
156137086	CV2280561	single nucleotide variant	NM_001098672.2(HEPHL1):c.1549A>G (p.Thr517Ala)	not specified [RCV004143047]	uncertain significance	11	94075218	94075218	Human		name
156136502	CV2284821	single nucleotide variant	NM_001098672.2(HEPHL1):c.1221C>A (p.Asn407Lys)	not specified [RCV004142996]	uncertain significance	11	94070531	94070531	Human		name
156156209	CV2314359	single nucleotide variant	NM_001098672.2(HEPHL1):c.2467G>A (p.Val823Ile)	not specified [RCV004166698]	likely benign	11	94101227	94101227	Human		name
156046417	CV2319095	single nucleotide variant	NM_001098672.2(HEPHL1):c.2210T>A (p.Ile737Asn)	not specified [RCV004178174]	uncertain significance	11	94088884	94088884	Human		name
156157319	CV2322561	single nucleotide variant	NM_001098672.2(HEPHL1):c.1813C>T (p.Pro605Ser)	not specified [RCV004182717]	uncertain significance	11	94082514	94082514	Human		name
156290072	CV2324872	single nucleotide variant	NM_001098672.2(HEPHL1):c.1303G>C (p.Glu435Gln)	not specified [RCV004173098]	uncertain significance	11	94073095	94073095	Human		name
156286888	CV2327276	single nucleotide variant	NM_001098672.2(HEPHL1):c.2889A>T (p.Glu963Asp)	not specified [RCV004174722]	uncertain significance	11	94104734	94104734	Human		name
156055364	CV2343388	single nucleotide variant	NM_001098672.2(HEPHL1):c.1498C>G (p.Leu500Val)	not specified [RCV004197469]	likely benign	11	94073433	94073433	Human		name
155928007	CV2349926	single nucleotide variant	NM_001098672.2(HEPHL1):c.2262C>G (p.Phe754Leu)	not specified [RCV004206339]	uncertain significance	11	94088936	94088936	Human		name
155925862	CV2365656	single nucleotide variant	NM_001098672.2(HEPHL1):c.1357C>T (p.His453Tyr)	not specified [RCV004214211]	uncertain significance	11	94073149	94073149	Human		name
156144076	CV2393649	single nucleotide variant	NM_001098672.2(HEPHL1):c.2206T>C (p.Tyr736His)	not specified [RCV004231458]	uncertain significance	11	94088880	94088880	Human		name
156146428	CV2397417	single nucleotide variant	NM_001098672.2(HEPHL1):c.2317C>T (p.Arg773Cys)	not specified [RCV004238935]	uncertain significance	11	94093523	94093523	Human		name
329387262	CV2436340	single nucleotide variant	NM_001098672.2(HEPHL1):c.2225T>C (p.Val742Ala)	not specified [RCV004251739]	uncertain significance	11	94088899	94088899	Human		name
329363119	CV2445871	single nucleotide variant	NM_001098672.2(HEPHL1):c.1219A>C (p.Asn407His)	not specified [RCV004270487]	uncertain significance	11	94070529	94070529	Human		name
329352330	CV2452876	single nucleotide variant	NM_001098672.2(HEPHL1):c.1968G>A (p.Met656Ile)	not specified [RCV004277524]	uncertain significance	11	94086077	94086077	Human		name
329369867	CV2461254	single nucleotide variant	NM_001098672.2(HEPHL1):c.2044A>G (p.Met682Val)	not specified [RCV004267435]	likely benign	11	94086153	94086153	Human		name
401740935	CV2679838	single nucleotide variant	NM_001098672.2(HEPHL1):c.1012G>A (p.Glu338Lys)	not specified [RCV004282293]	uncertain significance	11	94067699	94067699	Human		name
401739609	CV2683117	single nucleotide variant	NM_001098672.2(HEPHL1):c.2427A>T (p.Glu809Asp)	not specified [RCV004286122]	uncertain significance	11	94093633	94093633	Human		name
401772699	CV2687783	single nucleotide variant	NM_001098672.2(HEPHL1):c.1576G>A (p.Val526Ile)	not specified [RCV004302765]	uncertain significance	11	94075245	94075245	Human		name
401745717	CV2693335	single nucleotide variant	NM_001098672.2(HEPHL1):c.2140T>C (p.Tyr714His)	not specified [RCV004295298]	uncertain significance	11	94088814	94088814	Human		name
401760574	CV2718884	single nucleotide variant	NM_001098672.2(HEPHL1):c.1168C>A (p.Leu390Ile)	not specified [RCV004322489]	uncertain significance	11	94070478	94070478	Human		name
401857491	CV2760190	single nucleotide variant	NM_001098672.2(HEPHL1):c.2816A>G (p.Tyr939Cys)	not specified [RCV004347367]	uncertain significance	11	94104661	94104661	Human		name
401884297	CV2761651	single nucleotide variant	NM_001098672.2(HEPHL1):c.2321C>T (p.Thr774Ile)	not specified [RCV004337271]	uncertain significance	11	94093527	94093527	Human		name
405292346	CV3196264	single nucleotide variant	NM_001098672.2(HEPHL1):c.1122G>C (p.Lys374Asn)	HEPHL1-related disorder [RCV003964500]	benign	11	94070432	94070432	Human		name , trait , alternate_id
405276402	CV3206721	single nucleotide variant	NM_001098672.2(HEPHL1):c.1295G>A (p.Arg432Gln)	HEPHL1-related disorder [RCV003917158]	benign	11	94073087	94073087	Human		name , trait , alternate_id
405283906	CV3213399	single nucleotide variant	NM_001098672.2(HEPHL1):c.2760C>A (p.Asp920Glu)	HEPHL1-related disorder [RCV003921986]	benign	11	94104605	94104605	Human		name , trait , alternate_id
405284404	CV3213761	single nucleotide variant	NM_001098672.2(HEPHL1):c.2109G>T (p.Met703Ile)	HEPHL1-related disorder [RCV003922316]	likely benign	11	94088783	94088783	Human		name , trait , alternate_id
405802820	CV3273624	single nucleotide variant	NM_001098672.2(HEPHL1):c.1140G>T (p.Arg380Ser)	not specified [RCV004404120]	uncertain significance	11	94070450	94070450	Human		name
405802824	CV3273626	single nucleotide variant	NM_001098672.2(HEPHL1):c.1142G>A (p.Arg381His)	not specified [RCV004404122]	likely benign	11	94070452	94070452	Human		name
405802826	CV3273627	single nucleotide variant	NM_001098672.2(HEPHL1):c.1222G>A (p.Ala408Thr)	not specified [RCV004404123]	uncertain significance	11	94070532	94070532	Human		name
405802829	CV3273629	single nucleotide variant	NM_001098672.2(HEPHL1):c.1257A>C (p.Gln419His)	not specified [RCV004404125]	uncertain significance	11	94073049	94073049	Human		name
405802831	CV3273630	single nucleotide variant	NM_001098672.2(HEPHL1):c.1271T>C (p.Ile424Thr)	not specified [RCV004404126]	uncertain significance	11	94073063	94073063	Human		name
405802833	CV3273631	single nucleotide variant	NM_001098672.2(HEPHL1):c.1283A>G (p.Tyr428Cys)	not specified [RCV004404127]	uncertain significance	11	94073075	94073075	Human		name
405802835	CV3273632	single nucleotide variant	NM_001098672.2(HEPHL1):c.1396G>A (p.Gly466Ser)	not specified [RCV004404128]	uncertain significance	11	94073331	94073331	Human		name
405802837	CV3273633	single nucleotide variant	NM_001098672.2(HEPHL1):c.1484A>T (p.Asp495Val)	not specified [RCV004404129]	uncertain significance	11	94073419	94073419	Human		name
405802839	CV3273634	single nucleotide variant	NM_001098672.2(HEPHL1):c.1853C>T (p.Ser618Phe)	not specified [RCV004404130]	uncertain significance	11	94082554	94082554	Human		name
405802842	CV3273636	single nucleotide variant	NM_001098672.2(HEPHL1):c.2281G>T (p.Ala761Ser)	not specified [RCV004404132]	uncertain significance	11	94088955	94088955	Human		name
405802844	CV3273637	single nucleotide variant	NM_001098672.2(HEPHL1):c.2327A>G (p.Asn776Ser)	not specified [RCV004404133]	uncertain significance	11	94093533	94093533	Human		name
405802846	CV3273638	single nucleotide variant	NM_001098672.2(HEPHL1):c.2357T>C (p.Val786Ala)	not specified [RCV004404134]	uncertain significance	11	94093563	94093563	Human		name
405802848	CV3273639	single nucleotide variant	NM_001098672.2(HEPHL1):c.2411G>T (p.Arg804Leu)	not specified [RCV004404135]	uncertain significance	11	94093617	94093617	Human		name
405802852	CV3273641	single nucleotide variant	NM_001098672.2(HEPHL1):c.2638A>G (p.Asn880Asp)	not specified [RCV004404137]	uncertain significance	11	94102976	94102976	Human		name
407521539	CV3437071	single nucleotide variant	NM_001098672.2(HEPHL1):c.2723G>T (p.Arg908Leu)	not specified [RCV004630396]	uncertain significance	11	94104568	94104568	Human		name
407521543	CV3437072	single nucleotide variant	NM_001098672.2(HEPHL1):c.1189G>A (p.Gly397Ser)	not specified [RCV004630397]	uncertain significance	11	94070499	94070499	Human		name
407510609	CV3437074	single nucleotide variant	NM_001098672.2(HEPHL1):c.2762T>C (p.Val921Ala)	not specified [RCV004626176]	uncertain significance	11	94104607	94104607	Human		name
407521549	CV3437075	single nucleotide variant	NM_001098672.2(HEPHL1):c.2615C>A (p.Ser872Tyr)	not specified [RCV004630399]	uncertain significance	11	94102953	94102953	Human		name
407521552	CV3437076	single nucleotide variant	NM_001098672.2(HEPHL1):c.2018G>A (p.Arg673Gln)	not specified [RCV004630400]	uncertain significance	11	94086127	94086127	Human		name
407521556	CV3437077	single nucleotide variant	NM_001098672.2(HEPHL1):c.2838G>T (p.Lys946Asn)	not specified [RCV004630401]	uncertain significance	11	94104683	94104683	Human		name
407521560	CV3437078	single nucleotide variant	NM_001098672.2(HEPHL1):c.1898C>G (p.Pro633Arg)	not specified [RCV004630402]	uncertain significance	11	94086007	94086007	Human		name
407521563	CV3437079	single nucleotide variant	NM_001098672.2(HEPHL1):c.2245A>C (p.Asn749His)	not specified [RCV004630403]	uncertain significance	11	94088919	94088919	Human		name
597760720	CV3689326	single nucleotide variant	NM_001098672.2(HEPHL1):c.2839T>C (p.Tyr947His)	not specified [RCV004925759]	uncertain significance	11	94104684	94104684	Human		name
597760741	CV3689330	single nucleotide variant	NM_001098672.2(HEPHL1):c.1967T>C (p.Met656Thr)	not specified [RCV004925763]	uncertain significance	11	94086076	94086076	Human		name
597760746	CV3689331	single nucleotide variant	NM_001098672.2(HEPHL1):c.2497A>G (p.Arg833Gly)	not specified [RCV004925764]	uncertain significance	11	94101257	94101257	Human		name
598274933	CV3978512	single nucleotide variant	NM_001098672.2(HEPHL1):c.1693G>A (p.Val565Ile)	not specified [RCV005351662]	uncertain significance	11	94075362	94075362	Human		name
598274937	CV3978514	single nucleotide variant	NM_001098672.2(HEPHL1):c.2614T>A (p.Ser872Thr)	not specified [RCV005351664]	uncertain significance	11	94102952	94102952	Human		name
598274941	CV3978517	single nucleotide variant	NM_001098672.2(HEPHL1):c.1893C>A (p.Asn631Lys)	not specified [RCV005351666]	uncertain significance	11	94086002	94086002	Human		name
598274943	CV3978518	single nucleotide variant	NM_001098672.2(HEPHL1):c.2276T>G (p.Val759Gly)	not specified [RCV005351667]	uncertain significance	11	94088950	94088950	Human		name
598274946	CV3978519	single nucleotide variant	NM_001098672.2(HEPHL1):c.1350A>C (p.Glu450Asp)	not specified [RCV005351668]	uncertain significance	11	94073142	94073142	Human		name
598274948	CV3978520	single nucleotide variant	NM_001098672.2(HEPHL1):c.2234A>T (p.Asp745Val)	not specified [RCV005351669]	uncertain significance	11	94088908	94088908	Human		name
598247553	CV3978521	single nucleotide variant	NM_001098672.2(HEPHL1):c.2918A>C (p.Lys973Thr)	not specified [RCV005345314]	uncertain significance	11	94106003	94106003	Human		name
598274953	CV3978523	single nucleotide variant	NM_001098672.2(HEPHL1):c.2938G>T (p.Gly980Cys)	not specified [RCV005351671]	uncertain significance	11	94106023	94106023	Human		name
598212518	CV4009058	single nucleotide variant	NM_001098672.2(HEPHL1):c.2639A>G (p.Asn880Ser)	Pili torti-developmental delay-neurological abnormalities syndrome [RCV005400671]	uncertain significance	11	94102977	94102977	Human	1	name
14696437	CV623029	single nucleotide variant	NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr)	Pili torti-developmental delay-neurological abnormalities syndrome [RCV000786055]	pathogenic	11	94067750	94067750	Human	1	name
41406200	CV980255	single nucleotide variant	NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter)	not provided [RCV001280796]	likely pathogenic	11	94104702	94104702	Human		name
41406192	CV980256	single nucleotide variant	NM_001098672.2(HEPHL1):c.2968A>C (p.Asn990His)	not provided [RCV001280792]\|not specified [RCV004035516]	uncertain significance	11	94106053	94106053	Human		name
127243904	CV1053774	single nucleotide variant	NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)	Pili torti-developmental delay-neurological abnormalities syndrome [RCV001375938]	uncertain significance	11	94110907	94110907	Human	1	name
153001813	CV1682697	single nucleotide variant	NM_001098672.2(HEPHL1):c.3280C>T (p.Arg1094Ter)	Lichen planopilaris [RCV002251777]	uncertain significance	11	94111694	94111694	Human	1	name
156017940	CV2223031	single nucleotide variant	NM_001098672.2(HEPHL1):c.3449A>C (p.Gln1150Pro)	not specified [RCV004103613]	uncertain significance	11	94111863	94111863	Human		name
155990917	CV2276525	single nucleotide variant	NM_001098672.2(HEPHL1):c.3185C>G (p.Thr1062Ser)	not specified [RCV004144237]	uncertain significance	11	94111042	94111042	Human		name
156037214	CV2332518	single nucleotide variant	NM_001098672.2(HEPHL1):c.3403C>A (p.Leu1135Ile)	not specified [RCV004196239]	uncertain significance	11	94111817	94111817	Human		name
155907717	CV2354481	single nucleotide variant	NM_001098672.2(HEPHL1):c.3061C>G (p.Arg1021Gly)	not provided [RCV004695669]\|not specified [RCV004202468]	uncertain significance	11	94110918	94110918	Human		name
155994018	CV2379489	single nucleotide variant	NM_001098672.2(HEPHL1):c.3212A>G (p.Asn1071Ser)	not specified [RCV004217207]	uncertain significance	11	94111540	94111540	Human		name
401761355	CV2689118	single nucleotide variant	NM_001098672.2(HEPHL1):c.3043A>G (p.Lys1015Glu)	not specified [RCV004305881]	uncertain significance	11	94106128	94106128	Human		name
401735371	CV2706767	single nucleotide variant	NM_001098672.2(HEPHL1):c.3361A>G (p.Ile1121Val)	not specified [RCV004319326]	uncertain significance	11	94111775	94111775	Human		name
401943317	CV2840002	single nucleotide variant	NM_001098672.2(HEPHL1):c.3085C>T (p.Pro1029Ser)	not provided [RCV003456789]	uncertain significance	11	94110942	94110942	Human		name
405278855	CV3220374	single nucleotide variant	NM_001098672.2(HEPHL1):c.3409C>T (p.Leu1137Phe)	HEPHL1-related disorder [RCV003976594]	benign	11	94111823	94111823	Human		name , trait , alternate_id
405802855	CV3273643	single nucleotide variant	NM_001098672.2(HEPHL1):c.3226T>C (p.Ser1076Pro)	not specified [RCV004404139]	uncertain significance	11	94111554	94111554	Human		name
405802857	CV3273644	single nucleotide variant	NM_001098672.2(HEPHL1):c.3254A>G (p.His1085Arg)	not specified [RCV004404140]	uncertain significance	11	94111582	94111582	Human		name
405802859	CV3273645	single nucleotide variant	NM_001098672.2(HEPHL1):c.3269C>T (p.Pro1090Leu)	not specified [RCV004404141]	uncertain significance	11	94111597	94111597	Human		name
405802861	CV3273646	single nucleotide variant	NM_001098672.2(HEPHL1):c.3365T>C (p.Ile1122Thr)	not specified [RCV004404142]	uncertain significance	11	94111779	94111779	Human		name
405802864	CV3273648	single nucleotide variant	NM_001098672.2(HEPHL1):c.3458C>A (p.Ala1153Asp)	not specified [RCV004404144]	uncertain significance	11	94111872	94111872	Human		name
407521531	CV3437069	single nucleotide variant	NM_001098672.2(HEPHL1):c.3169G>T (p.Ala1057Ser)	not specified [RCV004630394]	uncertain significance	11	94111026	94111026	Human		name
407521546	CV3437073	single nucleotide variant	NM_001098672.2(HEPHL1):c.3389C>T (p.Thr1130Met)	not specified [RCV004630398]	uncertain significance	11	94111803	94111803	Human		name
407521566	CV3437080	single nucleotide variant	NM_001098672.2(HEPHL1):c.3218T>C (p.Ile1073Thr)	not specified [RCV004630404]	uncertain significance	11	94111546	94111546	Human		name
597760736	CV3689329	single nucleotide variant	NM_001098672.2(HEPHL1):c.3241G>A (p.Gly1081Arg)	not specified [RCV004925762]	uncertain significance	11	94111569	94111569	Human		name
597760751	CV3689332	single nucleotide variant	NM_001098672.2(HEPHL1):c.3124C>T (p.Pro1042Ser)	not specified [RCV004925765]	uncertain significance	11	94110981	94110981	Human		name
597760761	CV3689334	single nucleotide variant	NM_001098672.2(HEPHL1):c.3077A>G (p.Asp1026Gly)	not specified [RCV004925767]	uncertain significance	11	94110934	94110934	Human		name
597760772	CV3689337	single nucleotide variant	NM_001098672.2(HEPHL1):c.3094T>C (p.Phe1032Leu)	not specified [RCV004925769]	uncertain significance	11	94110951	94110951	Human		name
14696438	CV623030	single nucleotide variant	NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr)	Pili torti-developmental delay-neurological abnormalities syndrome [RCV000786056]	pathogenic	11	94111033	94111033	Human	1	name
401856338	CV2752439	duplication	NM_001098672.2(HEPHL1):c.641_644dup (p.Tyr215Ter)	Pili torti-developmental delay-neurological abnormalities syndrome [RCV003340777]	likely pathogenic	11	94064339	94064340	Human	1	name

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