Dph1 Variant Search Result - Rat Genome Database

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124 records found for search term Dph1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156174983	CV2290417	single nucleotide variant	NM_001383.6(DPH1):c.-2T>A	Inborn genetic diseases [RCV002891621]	uncertain significance	17	2030168	2030168	Human	1	name
156190544	CV2339602	single nucleotide variant	NM_001383.6(DPH1):c.-12C>T	Inborn genetic diseases [RCV002956940]	uncertain significance	17	2030158	2030158	Human	1	name
405709935	CV3225639	single nucleotide variant	NM_001383.6(DPH1):c.-13G>A	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003990697]	uncertain significance	17	2030157	2030157	Human	1	name
21075542	CV797509	single nucleotide variant	NM_001383.6(DPH1):c.-15A>G	not provided [RCV000996449]	uncertain significance	17	2030155	2030155	Human		name
156257318	CV2219858	single nucleotide variant	NM_001383.6(DPH1):c.279-5C>T	Inborn genetic diseases [RCV002702810]	uncertain significance	17	2035965	2035965	Human	1	name
156337783	CV2224852	single nucleotide variant	NM_001383.6(DPH1):c.558+4G>C	Inborn genetic diseases [RCV002718756]	uncertain significance	17	2036690	2036690	Human	1	name
329846392	CV2524719	single nucleotide variant	NM_001383.6(DPH1):c.400+5G>T	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003228199]	uncertain significance	17	2036096	2036096	Human	1	name
15100783	CV731135	single nucleotide variant	NM_001383.6(DPH1):c.559-4A>G	not provided [RCV000892167]	likely benign	17	2036831	2036831	Human		name
401924971	CV2805171	duplication	NM_001383.6(DPH1):c.1086+2dup	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004565060]\|not specified [RCV003404992]	likely pathogenic\|uncertain significance	17	2041182	2041183	Human	1	name
405000301	CV2852796	single nucleotide variant	NM_001383.6(DPH1):c.749+39G>A	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003493391]	conflicting interpretations of pathogenicity\|uncertain significance	17	2039862	2039862	Human	1	name
405691756	CV3227589	single nucleotide variant	NM_001383.6(DPH1):c.1228-1G>A	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003991935]	uncertain significance	17	2041767	2041767	Human	1	name
15115933	CV776249	single nucleotide variant	NM_001383.6(DPH1):c.215-10C>T	not provided [RCV000939575]	likely benign	17	2033769	2033769	Human		name
150410078	CV1175472	single nucleotide variant	NM_001383.6(DPH1):c.400+117G>A	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001544468]\|not provided [RCV004710312]	benign	17	2036208	2036208	Human	1	name
150409515	CV1175473	single nucleotide variant	NM_001383.6(DPH1):c.1228-21A>G	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001544107]\|not provided [RCV004710309]	benign	17	2041747	2041747	Human	1	name
150533230	CV1292354	single nucleotide variant	NM_001383.6(DPH1):c.*19-278G>T	not provided [RCV001753961]	benign	17	2042327	2042327	Human		name
150533236	CV1292362	single nucleotide variant	NM_001383.6(DPH1):c.*19-205C>T	not provided [RCV001753969]	benign	17	2042400	2042400	Human		name
150533242	CV1292371	single nucleotide variant	NM_001383.6(DPH1):c.*19-155C>T	not provided [RCV001753978]	benign	17	2042450	2042450	Human		name
329352364	CV2476663	single nucleotide variant	NM_001383.6(DPH1):c.1227+33C>G	not provided [RCV003222895]	benign	17	2041654	2041654	Human		name
15135653	CV776612	single nucleotide variant	NM_001383.6(DPH1):c.1008-10C>T	not provided [RCV000942953]	likely benign	17	2041093	2041093	Human		name
126739747	CV1021612	deletion	NM_001383.6(DPH1):c.135_136del	Developmental delay with short stature, dysmorphic features, and sparse hair [RCV001335830]	pathogenic	17	2042721	2042722	Human		name
10766611	CV215783	single nucleotide variant	NM_001383.6(DPH1):c.2T>A (p.Met1Lys)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004567447]\|not provided [RCV000203304]	pathogenic\|likely pathogenic	17	2030171	2030171	Human	1	name
15102151	CV771316	single nucleotide variant	NM_001383.6(DPH1):c.66G>T (p.Arg22=)	not provided [RCV000936936]	likely benign	17	2033509	2033509	Human		name
156050787	CV2304605	single nucleotide variant	NM_001383.6(DPH1):c.10C>A (p.Leu4Met)	Inborn genetic diseases [RCV002911189]	uncertain significance	17	2030179	2030179	Human	1	name
405287196	CV3205660	single nucleotide variant	NM_001383.6(DPH1):c.114G>A (p.Lys38=)	DPH1-related disorder [RCV003959789]	likely benign	17	2033557	2033557	Human		name , trait , alternate_id
405766081	CV3247829	single nucleotide variant	NM_001383.6(DPH1):c.11T>C (p.Leu4Pro)	Inborn genetic diseases [RCV004384311]	uncertain significance	17	2030180	2030180	Human	1	name
15149363	CV740647	single nucleotide variant	NM_001383.6(DPH1):c.102T>G (p.Pro34=)	not provided [RCV000900918]	likely benign	17	2033545	2033545	Human		name
126745091	CV1018259	single nucleotide variant	NM_001383.6(DPH1):c.34C>A (p.Gln12Lys)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001330584]	uncertain significance	17	2030203	2030203	Human	1	name
126739756	CV1021610	single nucleotide variant	NM_001383.6(DPH1):c.80G>A (p.Arg27His)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001335832]\|Inborn genetic diseases [RCV005330708]	uncertain significance	17	2033523	2033523	Human	2	name
150333675	CV1172970	single nucleotide variant	NM_001383.6(DPH1):c.996T>C (p.Pro332=)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001544106]\|not provided [RCV001539611]	benign	17	2040594	2040594	Human	5	name
155905993	CV2393848	single nucleotide variant	NM_001383.6(DPH1):c.82G>A (p.Val28Met)	Inborn genetic diseases [RCV002749456]	uncertain significance	17	2033525	2033525	Human	1	name
243049300	CV2412310	single nucleotide variant	NM_001383.6(DPH1):c.65G>A (p.Arg22Gln)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003146852]\|Inborn genetic diseases [RCV004246136]	uncertain significance	17	2033508	2033508	Human	2	name
401721371	CV2673693	single nucleotide variant	NM_001383.6(DPH1):c.74G>A (p.Arg25Gln)	Inborn genetic diseases [RCV003244397]	uncertain significance	17	2033517	2033517	Human	1	name
405283894	CV3200365	single nucleotide variant	NM_001383.6(DPH1):c.384C>T (p.Tyr128=)	DPH1-related disorder [RCV003979409]	likely benign	17	2036075	2036075	Human		name , trait , alternate_id
405283588	CV3217158	single nucleotide variant	NM_001383.6(DPH1):c.549G>A (p.Ser183=)	DPH1-related disorder [RCV003979265]	benign	17	2036677	2036677	Human		name , trait , alternate_id
405289858	CV3218787	single nucleotide variant	NM_001383.6(DPH1):c.771C>A (p.Val257=)	DPH1-related disorder [RCV003961990]	likely benign	17	2040239	2040239	Human		name , trait , alternate_id
407506345	CV3434523	single nucleotide variant	NM_001383.6(DPH1):c.35A>G (p.Gln12Arg)	Inborn genetic diseases [RCV004624672]	uncertain significance	17	2030204	2030204	Human	1	name
598176602	CV3960772	single nucleotide variant	NM_001383.6(DPH1):c.67G>A (p.Ala23Thr)	Inborn genetic diseases [RCV005332043]	uncertain significance	17	2033510	2033510	Human	1	name
598176607	CV3960773	single nucleotide variant	NM_001383.6(DPH1):c.73C>T (p.Arg25Trp)	Inborn genetic diseases [RCV005332044]	uncertain significance	17	2033516	2033516	Human	1	name
14712875	CV645401	deletion	NM_001383.6(DPH1):c.274del (p.Glu92fs)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004569770]\|not provided [RCV000822167]	pathogenic\|likely pathogenic	17	2033837	2033837	Human	1	name
15167528	CV715290	single nucleotide variant	NM_001383.6(DPH1):c.675C>T (p.Ala225=)	not provided [RCV000971417]	benign\|likely benign	17	2036951	2036951	Human		name
15166670	CV715291	single nucleotide variant	NM_001383.6(DPH1):c.726C>T (p.Ala242=)	not provided [RCV000971232]	likely benign	17	2039800	2039800	Human		name
15110629	CV755704	single nucleotide variant	NM_001383.6(DPH1):c.561A>G (p.Ala187=)	DPH1-related disorder [RCV003978010]\|not provided [RCV000916570]	likely benign	17	2036837	2036837	Human	1	name , trait , alternate_id
15110218	CV755705	single nucleotide variant	NM_001383.6(DPH1):c.582C>T (p.Ala194=)	DPH1-related disorder [RCV003933056]\|not provided [RCV000916490]	likely benign	17	2036858	2036858	Human	1	name , trait , alternate_id
15193528	CV755706	single nucleotide variant	NM_001383.6(DPH1):c.867G>C (p.Leu289=)	DPH1-related disorder [RCV003958318]\|not provided [RCV000910865]	likely benign	17	2040335	2040335	Human	1	name , trait , alternate_id
150455167	CV1000041	deletion	NM_001383.6(DPH1):c.457del (p.Arg153fs)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001594435]	likely pathogenic	17	2036584	2036584	Human	1	name
156224781	CV2219449	single nucleotide variant	NM_001383.6(DPH1):c.199G>A (p.Ala67Thr)	Inborn genetic diseases [RCV002712365]	uncertain significance	17	2033642	2033642	Human	1	name
155981403	CV2244074	single nucleotide variant	NM_001383.6(DPH1):c.136A>G (p.Ile46Val)	Inborn genetic diseases [RCV002777744]	likely benign	17	2033579	2033579	Human	1	name
156064188	CV2349760	single nucleotide variant	NM_001383.6(DPH1):c.139C>T (p.Arg47Trp)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003143566]\|Inborn genetic diseases [RCV003000359]	uncertain significance	17	2033582	2033582	Human	2	name
243049303	CV2415944	single nucleotide variant	NM_001383.6(DPH1):c.155A>G (p.Asn52Ser)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003148566]	uncertain significance	17	2033598	2033598	Human	1	name
401889464	CV2758131	single nucleotide variant	NM_001383.6(DPH1):c.296T>G (p.Val99Gly)	Inborn genetic diseases [RCV003368442]	uncertain significance	17	2035987	2035987	Human	1	name
401963778	CV2843315	single nucleotide variant	NM_001383.6(DPH1):c.103G>T (p.Glu35Ter)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003479657]	pathogenic	17	2033546	2033546	Human	1	name
405766070	CV3247827	single nucleotide variant	NM_001383.6(DPH1):c.140G>A (p.Arg47Gln)	Inborn genetic diseases [RCV004384309]	likely benign	17	2033583	2033583	Human	1	name
405766076	CV3247828	single nucleotide variant	NM_001383.6(DPH1):c.228G>T (p.Met76Ile)	Inborn genetic diseases [RCV004384310]	uncertain significance	17	2033792	2033792	Human	1	name
405766087	CV3247830	single nucleotide variant	NM_001383.6(DPH1):c.268A>G (p.Ile90Val)	Inborn genetic diseases [RCV004384312]	uncertain significance	17	2033832	2033832	Human	1	name
15170025	CV755707	single nucleotide variant	NM_001383.6(DPH1):c.1242C>T (p.Ser414=)	not provided [RCV000927617]	likely benign	17	2041782	2041782	Human		name
15109785	CV785486	single nucleotide variant	NM_001383.6(DPH1):c.113A>C (p.Lys38Thr)	Inborn genetic diseases [RCV004619467]\|not provided [RCV000977307]	likely benign	17	2033556	2033556	Human	1	name
25318442	CV805931	duplication	NM_001383.6(DPH1):c.607dup (p.Cys203fs)	not provided [RCV001008618]	pathogenic\|likely pathogenic	17	2036882	2036883	Human		name
150455162	CV1000040	single nucleotide variant	NM_001383.6(DPH1):c.382T>C (p.Tyr128His)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001594434]	likely pathogenic	17	2036073	2036073	Human	1	name
126745096	CV1018260	single nucleotide variant	NM_001383.6(DPH1):c.752A>G (p.Tyr251Cys)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001330585]	uncertain significance	17	2040220	2040220	Human	1	name
126739750	CV1021611	single nucleotide variant	NM_001383.6(DPH1):c.721A>T (p.Ile241Phe)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001335831]	uncertain significance	17	2039795	2039795	Human	1	name
150540439	CV1314564	single nucleotide variant	NM_001383.6(DPH1):c.652C>T (p.Arg218Ter)	DPH1-related disorder [RCV004758196]\|Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003147670]	likely pathogenic	17	2036928	2036928	Human	1	name , trait , alternate_id
9850366	CV181451	single nucleotide variant	NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)	Dandy-Walker syndrome [RCV000162191]\|Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003147374]\|Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV000210874]	pathogenic\|likely pathogenic	17	2039760	2039760	Human	6	name
155920487	CV2215288	single nucleotide variant	NM_001383.6(DPH1):c.892C>T (p.Pro298Ser)	Inborn genetic diseases [RCV002727374]	uncertain significance	17	2040360	2040360	Human	1	name
156382417	CV2227351	single nucleotide variant	NM_001383.6(DPH1):c.307G>A (p.Gly103Ser)	Inborn genetic diseases [RCV002722774]	uncertain significance	17	2035998	2035998	Human	1	name
155905855	CV2303194	single nucleotide variant	NM_001383.6(DPH1):c.958C>G (p.Leu320Val)	Inborn genetic diseases [RCV002901779]	uncertain significance	17	2040556	2040556	Human	1	name
156148960	CV2321844	single nucleotide variant	NM_001383.6(DPH1):c.700T>C (p.Phe234Leu)	Inborn genetic diseases [RCV002954534]	uncertain significance	17	2039774	2039774	Human	1	name
155968985	CV2339371	single nucleotide variant	NM_001383.6(DPH1):c.946G>T (p.Val316Leu)	Inborn genetic diseases [RCV002972807]	uncertain significance	17	2040544	2040544	Human	1	name
156215118	CV2385967	single nucleotide variant	NM_001383.6(DPH1):c.430C>T (p.Arg144Trp)	Inborn genetic diseases [RCV002744345]	uncertain significance	17	2036558	2036558	Human	1	name
329375997	CV2431693	single nucleotide variant	NM_001383.6(DPH1):c.416C>T (p.Ser139Leu)	Inborn genetic diseases [RCV003173996]	uncertain significance	17	2036544	2036544	Human	1	name
329391596	CV2452958	single nucleotide variant	NM_001383.6(DPH1):c.520G>A (p.Ala174Thr)	Inborn genetic diseases [RCV003217354]	uncertain significance	17	2036648	2036648	Human	1	name
401767656	CV2681734	single nucleotide variant	NM_001383.6(DPH1):c.994C>G (p.Pro332Ala)	Inborn genetic diseases [RCV003259882]	uncertain significance	17	2040592	2040592	Human	1	name
401741891	CV2706554	single nucleotide variant	NM_001383.6(DPH1):c.673G>A (p.Ala225Thr)	Inborn genetic diseases [RCV003292703]	uncertain significance	17	2036949	2036949	Human	1	name
401764086	CV2717220	single nucleotide variant	NM_001383.6(DPH1):c.653G>A (p.Arg218Gln)	Inborn genetic diseases [RCV003300783]	uncertain significance	17	2036929	2036929	Human	1	name
401828224	CV2744582	single nucleotide variant	NM_001383.6(DPH1):c.437T>C (p.Leu146Pro)	not provided [RCV003327980]	uncertain significance	17	2036565	2036565	Human		name
401875425	CV2749982	single nucleotide variant	NM_001383.6(DPH1):c.322G>A (p.Gly108Arg)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003333395]	uncertain significance	17	2036013	2036013	Human	1	name
405766093	CV3247831	single nucleotide variant	NM_001383.6(DPH1):c.355G>A (p.Ala119Thr)	Inborn genetic diseases [RCV004384313]	uncertain significance	17	2036046	2036046	Human	1	name
405766100	CV3247832	single nucleotide variant	NM_001383.6(DPH1):c.442G>A (p.Val148Ile)	Inborn genetic diseases [RCV004384314]	uncertain significance	17	2036570	2036570	Human	1	name
405766106	CV3247833	single nucleotide variant	NM_001383.6(DPH1):c.457C>T (p.Arg153Trp)	Inborn genetic diseases [RCV004384315]	uncertain significance	17	2036585	2036585	Human	1	name
405766111	CV3247834	single nucleotide variant	NM_001383.6(DPH1):c.589C>T (p.Arg197Cys)	Inborn genetic diseases [RCV004384316]	uncertain significance	17	2036865	2036865	Human	1	name
405766123	CV3247836	single nucleotide variant	NM_001383.6(DPH1):c.742G>A (p.Ala248Thr)	Inborn genetic diseases [RCV004384318]	uncertain significance	17	2039816	2039816	Human	1	name
405854650	CV3392521	single nucleotide variant	NM_001383.6(DPH1):c.701T>C (p.Phe234Ser)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV004527542]	uncertain significance	17	2039775	2039775	Human	1	name
407506343	CV3434522	single nucleotide variant	NM_001383.6(DPH1):c.407T>C (p.Met136Thr)	Inborn genetic diseases [RCV004624671]	uncertain significance	17	2036535	2036535	Human	1	name
407506348	CV3434524	single nucleotide variant	NM_001383.6(DPH1):c.698G>A (p.Arg233His)	Inborn genetic diseases [RCV004624673]	uncertain significance	17	2039772	2039772	Human	1	name
407506353	CV3434526	single nucleotide variant	NM_001383.6(DPH1):c.736G>A (p.Val246Ile)	Inborn genetic diseases [RCV004624675]	uncertain significance	17	2039810	2039810	Human	1	name
407488116	CV3434529	single nucleotide variant	NM_001383.6(DPH1):c.622C>T (p.Pro208Ser)	Inborn genetic diseases [RCV004619681]	uncertain significance	17	2036898	2036898	Human	1	name
407574297	CV3498646	single nucleotide variant	NM_001383.6(DPH1):c.919C>T (p.Arg307Ter)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004703122]	pathogenic	17	2040517	2040517	Human	1	name
596925383	CV3542053	single nucleotide variant	NM_001383.6(DPH1):c.693T>G (p.Asp231Glu)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004795768]	uncertain significance	17	2039767	2039767	Human	1	name
597651316	CV3666987	single nucleotide variant	NM_001383.6(DPH1):c.583G>A (p.Glu195Lys)	Inborn genetic diseases [RCV004974556]	uncertain significance	17	2036859	2036859	Human	1	name
597651309	CV3666988	single nucleotide variant	NM_001383.6(DPH1):c.733A>C (p.Asn245His)	Inborn genetic diseases [RCV004974557]	uncertain significance	17	2039807	2039807	Human	1	name
597651297	CV3666991	single nucleotide variant	NM_001383.6(DPH1):c.920G>A (p.Arg307Gln)	Inborn genetic diseases [RCV004974559]	likely benign	17	2040518	2040518	Human	1	name
597651291	CV3666992	single nucleotide variant	NM_001383.6(DPH1):c.650C>A (p.Pro217His)	Inborn genetic diseases [RCV004974560]	uncertain significance	17	2036926	2036926	Human	1	name
12842001	CV375971	single nucleotide variant	NM_001383.6(DPH1):c.748C>T (p.Arg250Trp)	not provided [RCV000433612]	uncertain significance	17	2039822	2039822	Human		name
598176598	CV3960771	single nucleotide variant	NM_001383.6(DPH1):c.933G>C (p.Leu311Phe)	Inborn genetic diseases [RCV005332042]	likely benign	17	2040531	2040531	Human	1	name
598176623	CV3960776	single nucleotide variant	NM_001383.6(DPH1):c.493C>T (p.Leu165Phe)	Inborn genetic diseases [RCV005332047]	uncertain significance	17	2036621	2036621	Human	1	name
598176628	CV3960777	single nucleotide variant	NM_001383.6(DPH1):c.823G>A (p.Ala275Thr)	Inborn genetic diseases [RCV005332048]	uncertain significance	17	2040291	2040291	Human	1	name
598176632	CV3960778	single nucleotide variant	NM_001383.6(DPH1):c.638G>A (p.Gly213Asp)	Inborn genetic diseases [RCV005332049]	uncertain significance	17	2036914	2036914	Human	1	name
13462185	CV438589	single nucleotide variant	NM_001383.6(DPH1):c.470C>T (p.Thr157Ile)	not provided [RCV000513862]	likely benign	17	2036598	2036598	Human		name
13530551	CV512266	single nucleotide variant	NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	DPH1-related disorder [RCV003928037]\|Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004568338]\|Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV000677664]\|Inborn genetic diseases [ ... (more) RCV000622588]\|not provided [RCV001574312]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	2036050	2036050	Human	3	name , trait , alternate_id
15181448	CV715292	single nucleotide variant	NM_001383.6(DPH1):c.731C>G (p.Pro244Arg)	DPH1-related disorder [RCV003918557]\|not provided [RCV000974395]	benign\|likely benign	17	2039805	2039805	Human	1	name , trait , alternate_id
15192357	CV740648	single nucleotide variant	NM_001383.6(DPH1):c.375G>T (p.Leu125Phe)	not provided [RCV000910517]	likely benign	17	2036066	2036066	Human		name
15148187	CV740649	single nucleotide variant	NM_001383.6(DPH1):c.844G>T (p.Ala282Ser)	not provided [RCV000900668]	likely benign	17	2040312	2040312	Human		name
40887656	CV974043	deletion	NM_001383.6(DPH1):c.1198del (p.His400fs)	Inborn genetic diseases [RCV001267257]	uncertain significance	17	2041589	2041589	Human	1	name
126729118	CV985705	single nucleotide variant	NM_001383.6(DPH1):c.476T>C (p.Leu159Pro)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004570672]	pathogenic	17	2036604	2036604	Human	1	name
126729123	CV985708	single nucleotide variant	NM_001383.6(DPH1):c.320A>G (p.Tyr107Cys)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004570673]\|not provided [RCV001823194]	pathogenic\|likely pathogenic	17	2036011	2036011	Human	1	name
156146763	CV2381808	single nucleotide variant	NM_001383.6(DPH1):c.1300G>A (p.Ala434Thr)	Inborn genetic diseases [RCV002709411]	uncertain significance	17	2041840	2041840	Human	1	name
156224336	CV2399381	single nucleotide variant	NM_001383.6(DPH1):c.1286G>C (p.Arg429Thr)	Inborn genetic diseases [RCV002804942]	uncertain significance	17	2041826	2041826	Human	1	name
329402223	CV2454022	single nucleotide variant	NM_001383.6(DPH1):c.1196C>T (p.Pro399Leu)	Inborn genetic diseases [RCV003199087]	uncertain significance	17	2041590	2041590	Human	1	name
401775984	CV2706839	single nucleotide variant	NM_001383.6(DPH1):c.1250C>T (p.Pro417Leu)	Inborn genetic diseases [RCV003263078]	uncertain significance	17	2041790	2041790	Human	1	name
401875446	CV2749987	single nucleotide variant	NM_001383.6(DPH1):c.1256C>G (p.Ser419Trp)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV003333401]	uncertain significance	17	2041796	2041796	Human	1	name
401895381	CV2786422	single nucleotide variant	NM_001383.6(DPH1):c.1141T>C (p.Tyr381His)	Inborn genetic diseases [RCV003372451]	uncertain significance	17	2041535	2041535	Human	1	name
401935623	CV2814692	single nucleotide variant	NM_001383.6(DPH1):c.1292A>G (p.Glu431Gly)	not provided [RCV003413080]	likely benign	17	2041832	2041832	Human		name
405766056	CV3247825	single nucleotide variant	NM_001383.6(DPH1):c.1112C>T (p.Ser371Phe)	Inborn genetic diseases [RCV004384307]	uncertain significance	17	2041506	2041506	Human	1	name
405766063	CV3247826	single nucleotide variant	NM_001383.6(DPH1):c.1258G>A (p.Ala420Thr)	Inborn genetic diseases [RCV004384308]	uncertain significance	17	2041798	2041798	Human	1	name
407506356	CV3434527	single nucleotide variant	NM_001383.6(DPH1):c.1258G>T (p.Ala420Ser)	Inborn genetic diseases [RCV004624676]	uncertain significance	17	2041798	2041798	Human	1	name
407506359	CV3434528	single nucleotide variant	NM_001383.6(DPH1):c.1059C>G (p.Phe353Leu)	Inborn genetic diseases [RCV004624677]	uncertain significance	17	2041154	2041154	Human	1	name
407488120	CV3434530	single nucleotide variant	NM_001383.6(DPH1):c.1167G>C (p.Trp389Cys)	Inborn genetic diseases [RCV004619682]	uncertain significance	17	2041561	2041561	Human	1	name
407488125	CV3434531	single nucleotide variant	NM_001383.6(DPH1):c.1103G>C (p.Arg368Thr)	Inborn genetic diseases [RCV004619683]	uncertain significance	17	2041497	2041497	Human	1	name
597651302	CV3666989	single nucleotide variant	NM_001383.6(DPH1):c.1195C>T (p.Pro399Ser)	Inborn genetic diseases [RCV004974558]	uncertain significance	17	2041589	2041589	Human	1	name
15152795	CV727057	single nucleotide variant	NM_001383.6(DPH1):c.1249C>A (p.Pro417Thr)	not provided [RCV000879879]	likely benign	17	2041789	2041789	Human		name
15121911	CV740650	single nucleotide variant	NM_001383.6(DPH1):c.1093G>C (p.Val365Leu)	DPH1-related disorder [RCV003958049]\|not provided [RCV000896149]	benign\|likely benign	17	2041487	2041487	Human	1	name , trait , alternate_id
40815502	CV971072	single nucleotide variant	NM_001383.6(DPH1):c.1193G>A (p.Arg398His)	Developmental delay with short stature, dysmorphic facial features, and sparse hair [RCV001262937]	uncertain significance	17	2041587	2041587	Human	1	name
150415743	CV1178128	deletion	NM_001383.6(DPH1):c.914_927del (p.Glu305fs)	not provided [RCV001548716]	pathogenic	17	2040512	2040525	Human		name
401924912	CV2805169	deletion	NM_001383.6(DPH1):c.786_788del (p.Tyr263del)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [RCV004565059]\|not specified [RCV003404990]	uncertain significance	17	2040253	2040255	Human	1	name
401924914	CV2805170	deletion	NM_001383.6(DPH1):c.801_803del (p.Met268del)	not specified [RCV003404991]	uncertain significance	17	2040269	2040271	Human		name

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