Dsg4 Variant Search Result - Rat Genome Database

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289 records found for search term Dsg4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11660139	CV331112	single nucleotide variant	NM_177986.5(DSG4):c.-88A>G	Hypotrichosis 6 [RCV000364339]	uncertain significance	18	31376824	31376824	Human	1	name
11616367	CV331113	single nucleotide variant	NM_177986.5(DSG4):c.-16A>G	Hypotrichosis 6 [RCV000294204]	uncertain significance	18	31376896	31376896	Human	1	name
11619890	CV341360	single nucleotide variant	NM_177986.5(DSG4):c.-10A>G	DSG4-related disorder [RCV003957667]\|Hypotrichosis 6 [RCV000330537]	likely benign\|uncertain significance	18	31376902	31376902	Human	1	name , trait , alternate_id
11625495	CV341414	single nucleotide variant	NM_177986.5(DSG4):c.*31C>T	Hypotrichosis 6 [RCV000399222]\|not provided [RCV001643016]	benign\|likely benign	18	31413626	31413626	Human	1	name
11626793	CV346881	single nucleotide variant	NM_177986.5(DSG4):c.-66G>A	Hypotrichosis 6 [RCV000269698]	uncertain significance	18	31376846	31376846	Human	1	name
11629654	CV346884	single nucleotide variant	NM_177986.5(DSG4):c.-52G>A	Hypotrichosis 6 [RCV000329544]	uncertain significance	18	31376860	31376860	Human	1	name
11631662	CV346892	single nucleotide variant	NM_177986.5(DSG4):c.-43A>G	Hypotrichosis 6 [RCV000384091]	uncertain significance	18	31376869	31376869	Human	1	name
28899822	CV879114	single nucleotide variant	NM_177986.5(DSG4):c.-43A>C	Hypotrichosis 6 [RCV001124113]	uncertain significance	18	31376869	31376869	Human	1	name
28897757	CV879136	single nucleotide variant	NM_177986.5(DSG4):c.*55C>T	Hypotrichosis 6 [RCV001123328]	uncertain significance	18	31413650	31413650	Human	1	name
28897761	CV879137	single nucleotide variant	NM_177986.5(DSG4):c.*71A>G	Hypotrichosis 6 [RCV001123329]\|not provided [RCV001655681]	benign\|likely benign	18	31413666	31413666	Human	1	name
11618593	CV331151	single nucleotide variant	NM_177986.5(DSG4):c.*303G>A	Hypotrichosis 6 [RCV000315503]	uncertain significance	18	31413898	31413898	Human	1	name
11629432	CV348145	single nucleotide variant	NM_177986.5(DSG4):c.-101T>A	Hypotrichosis 6 [RCV000323187]	uncertain significance	18	31376811	31376811	Human	1	name
28896987	CV879113	single nucleotide variant	NM_177986.5(DSG4):c.-133C>T	Hypotrichosis 6 [RCV001123044]	uncertain significance	18	31376779	31376779	Human	1	name
28897764	CV879138	single nucleotide variant	NM_177986.5(DSG4):c.*104A>T	Hypotrichosis 6 [RCV001123330]	uncertain significance	18	31413699	31413699	Human	1	name
28897768	CV879139	single nucleotide variant	NM_177986.5(DSG4):c.*126G>A	Hypotrichosis 6 [RCV001123331]\|not provided [RCV001692351]	benign\|likely benign	18	31413721	31413721	Human	1	name
150540445	CV1314570	single nucleotide variant	NM_177986.5(DSG4):c.518-2A>G	Hypotrichosis 6 [RCV001781002]	likely pathogenic	18	31390654	31390654	Human		name
8556976	CV17762	single nucleotide variant	NM_177986.5(DSG4):c.216+1G>T	Hypotrichosis 6 [RCV000002842]	pathogenic	18	31386820	31386820	Human	1	name
405283061	CV3191230	single nucleotide variant	NM_177986.5(DSG4):c.517+8G>A	DSG4-related disorder [RCV003921636]	likely benign	18	31389026	31389026	Human		name , trait , alternate_id
405292686	CV3193100	single nucleotide variant	NM_177986.5(DSG4):c.216+7G>A	DSG4-related disorder [RCV003964687]	likely benign	18	31386826	31386826	Human		name , trait , alternate_id
28906686	CV880648	single nucleotide variant	NM_177986.5(DSG4):c.517+7A>T	Hypotrichosis 6 [RCV001127189]	uncertain significance	18	31389025	31389025	Human	1	name
150339028	CV1167715	single nucleotide variant	NM_177986.5(DSG4):c.517+27C>T	not provided [RCV001533994]	benign	18	31389045	31389045	Human		name
150515851	CV1216352	single nucleotide variant	NM_177986.5(DSG4):c.518-94G>A	not provided [RCV001608543]	benign	18	31390562	31390562	Human		name
150473942	CV1217716	single nucleotide variant	NM_177986.5(DSG4):c.517+37T>G	not provided [RCV001615727]	benign	18	31389055	31389055	Human		name
150437991	CV1221101	single nucleotide variant	NM_177986.5(DSG4):c.49-239T>C	not provided [RCV001609795]	benign	18	31384897	31384897	Human		name
150433511	CV1230550	single nucleotide variant	NM_177986.5(DSG4):c.48+150A>T	not provided [RCV001643495]	benign	18	31377109	31377109	Human		name
150438049	CV1237970	single nucleotide variant	NM_177986.5(DSG4):c.685-59G>A	not provided [RCV001644468]	benign	18	31391019	31391019	Human		name
150504782	CV1255307	single nucleotide variant	NM_177986.5(DSG4):c.517+63T>C	not provided [RCV001677754]	benign	18	31389081	31389081	Human		name
150462488	CV1264743	single nucleotide variant	NM_177986.5(DSG4):c.85-133G>C	not provided [RCV001682367]	benign	18	31386555	31386555	Human		name
155796906	CV1863052	single nucleotide variant	NM_177986.5(DSG4):c.1005+1G>A	Hypotrichosis 6 [RCV002470326]	uncertain significance	18	31392341	31392341	Human	1	name
405277544	CV3195920	single nucleotide variant	NM_177986.5(DSG4):c.2355+8C>T	DSG4-related disorder [RCV003904445]	likely benign	18	31411456	31411456	Human		name , trait , alternate_id
150502845	CV1212335	single nucleotide variant	NM_177986.5(DSG4):c.2074-34C>T	not provided [RCV001595209]	benign	18	31409711	31409711	Human		name
150453347	CV1219821	single nucleotide variant	NM_177986.5(DSG4):c.2355+94T>C	not provided [RCV001612202]	benign	18	31411542	31411542	Human		name
150511346	CV1229434	single nucleotide variant	NM_177986.5(DSG4):c.1005+60A>C	not provided [RCV001637363]	benign	18	31392400	31392400	Human		name
150512504	CV1284944	single nucleotide variant	NM_177986.5(DSG4):c.819+309G>A	not provided [RCV001721813]	benign	18	31391521	31391521	Human		name
156027775	CV2025808	single nucleotide variant	NM_177986.5(DSG4):c.1418-16A>G	not provided [RCV002735674]	benign	18	31403400	31403400	Human		name
405258507	CV3203876	single nucleotide variant	NM_177986.5(DSG4):c.2138-48C>T	DSG4-related disorder [RCV003942039]	likely benign	18	31411183	31411183	Human		name , trait , alternate_id
11627649	CV348161	single nucleotide variant	NM_177986.5(DSG4):c.1636+12G>A	Hypotrichosis 6 [RCV000285601]\|not provided [RCV002521146]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	31403646	31403646	Human	1	name
28900067	CV880649	single nucleotide variant	NM_177986.5(DSG4):c.1278-13T>C	Hypotrichosis 6 [RCV001124205]\|not provided [RCV002556690]	benign\|uncertain significance	18	31400868	31400868	Human	1	name
28906883	CV880650	single nucleotide variant	NM_177986.5(DSG4):c.1637-14C>T	Hypotrichosis 6 [RCV001127292]\|not provided [RCV003708573]	likely benign\|uncertain significance	18	31406063	31406063	Human	1	name
28897491	CV880651	single nucleotide variant	NM_177986.5(DSG4):c.1933+12A>G	Hypotrichosis 6 [RCV001123220]\|not provided [RCV002556663]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	31406385	31406385	Human	1	name
150330998	CV1169778	single nucleotide variant	NM_177986.5(DSG4):c.1278-232C>A	not provided [RCV001536266]	benign	18	31400649	31400649	Human		name
150455206	CV1220427	single nucleotide variant	NM_177986.5(DSG4):c.1934-250G>A	not provided [RCV001612520]	benign	18	31409202	31409202	Human		name
150451039	CV1232748	single nucleotide variant	NM_177986.5(DSG4):c.2138-133T>G	not provided [RCV001647823]	benign	18	31411098	31411098	Human		name
150498438	CV1235566	single nucleotide variant	NM_177986.5(DSG4):c.1934-199A>G	not provided [RCV001656249]	benign	18	31409253	31409253	Human		name
150511261	CV1242658	single nucleotide variant	NM_177986.5(DSG4):c.1006-309A>C	not provided [RCV001661010]	benign	18	31398963	31398963	Human		name
150446045	CV1271809	single nucleotide variant	NM_177986.5(DSG4):c.1934-183C>T	not provided [RCV001691223]	benign	18	31409269	31409269	Human		name
11624703	CV341368	single nucleotide variant	NM_177986.5(DSG4):c.21A>G (p.Arg7=)	DSG4-related disorder [RCV003912364]\|Hypotrichosis 6 [RCV000389761]\|not provided [RCV000959479]	benign\|likely benign\|uncertain significance	18	31376932	31376932	Human	1	name , trait , alternate_id
156021121	CV2141289	single nucleotide variant	NM_177986.5(DSG4):c.51G>A (p.Val17=)	not provided [RCV002976158]	likely benign	18	31385138	31385138	Human		name
11628163	CV348146	single nucleotide variant	NM_177986.5(DSG4):c.30C>T (p.Cys10=)	Hypotrichosis 6 [RCV000295565]\|not provided [RCV001672544]	benign\|likely benign	18	31376941	31376941	Human	1	name
8556973	CV17759	deletion	NM_177986.5(DSG4):c.87del (p.Lys30fs)	Hypotrichosis 6 [RCV000002839]	pathogenic\|likely pathogenic	18	31386690	31386690	Human	1	name
156449525	CV1941843	single nucleotide variant	NM_177986.5(DSG4):c.216A>G (p.Lys72=)	not provided [RCV003121647]	uncertain significance	18	31386819	31386819	Human		name
156137075	CV2141210	single nucleotide variant	NM_177986.5(DSG4):c.129A>C (p.Thr43=)	not provided [RCV002982176]	likely benign	18	31386732	31386732	Human		name
156391296	CV2385252	single nucleotide variant	NM_177986.5(DSG4):c.18C>A (p.Phe6Leu)	Inborn genetic diseases [RCV002724809]	uncertain significance	18	31376929	31376929	Human	1	name
11632133	CV346896	single nucleotide variant	NM_177986.5(DSG4):c.258G>A (p.Arg86=)	Hypotrichosis 6 [RCV000398447]\|not provided [RCV001711940]	benign	18	31388408	31388408	Human	1	name
597931435	CV3827100	single nucleotide variant	NM_177986.5(DSG4):c.207C>T (p.Pro69=)	not provided [RCV005157113]	likely benign	18	31386810	31386810	Human		name
8556972	CV17758	deletion	NM_177986.5(DSG4):c.373-32_1005+292del	Hypotrichosis 6 [RCV000002838]	pathogenic	18	31388839	31392629	Human	1	name
155963443	CV2034062	single nucleotide variant	NM_177986.5(DSG4):c.816T>G (p.Thr272=)	not provided [RCV002731285]	likely benign	18	31391209	31391209	Human		name
405274131	CV3211574	single nucleotide variant	NM_177986.5(DSG4):c.678C>T (p.Asp226=)	DSG4-related disorder [RCV003951406]	likely benign	18	31390816	31390816	Human		name , trait , alternate_id
405715432	CV3244827	single nucleotide variant	NM_177986.5(DSG4):c.49G>A (p.Val17Met)	Inborn genetic diseases [RCV004377296]	uncertain significance	18	31385136	31385136	Human	1	name
11625421	CV341369	single nucleotide variant	NM_177986.5(DSG4):c.495C>T (p.Ser165=)	Hypotrichosis 6 [RCV000398270]\|not provided [RCV001690082]	benign	18	31388996	31388996	Human	1	name
11622628	CV341372	single nucleotide variant	NM_177986.5(DSG4):c.855G>A (p.Ser285=)	DSG4-related disorder [RCV003912365]\|Hypotrichosis 6 [RCV000362451]\|not provided [RCV000959480]	benign\|likely benign\|uncertain significance	18	31392190	31392190	Human	1	name , trait , alternate_id
597651027	CV3663144	single nucleotide variant	NM_177986.5(DSG4):c.74T>C (p.Phe25Ser)	Inborn genetic diseases [RCV004974652]	uncertain significance	18	31385161	31385161	Human	1	name
597956783	CV3838310	single nucleotide variant	NM_177986.5(DSG4):c.690C>T (p.His230=)	not provided [RCV005191685]	likely benign	18	31391083	31391083	Human		name
28905924	CV879117	single nucleotide variant	NM_177986.5(DSG4):c.474G>T (p.Ser158=)	Hypotrichosis 6 [RCV001126779]	uncertain significance	18	31388975	31388975	Human	1	name
28897226	CV879118	single nucleotide variant	NM_177986.5(DSG4):c.930C>T (p.Leu310=)	Hypotrichosis 6 [RCV001123120]	uncertain significance	18	31392265	31392265	Human	1	name
41406181	CV980280	single nucleotide variant	NM_177986.5(DSG4):c.82G>T (p.Glu28Ter)	not provided [RCV001280784]	likely pathogenic	18	31385169	31385169	Human		name
152033872	CV1610476	single nucleotide variant	NM_177986.5(DSG4):c.1732T>C (p.Leu578=)	not provided [RCV002125009]	benign	18	31406172	31406172	Human		name
8556978	CV17764	deletion	NM_177986.5(DSG4):c.763del (p.Cys255fs)	Hypotrichosis 6 [RCV000002844]	pathogenic	18	31391156	31391156	Human	1	name
155985771	CV1883977	single nucleotide variant	NM_177986.5(DSG4):c.2361G>A (p.Ala787=)	not provided [RCV003075875]	likely benign	18	31412833	31412833	Human		name
156130690	CV1933843	single nucleotide variant	NM_177986.5(DSG4):c.2919T>C (p.Gly973=)	not provided [RCV002640699]	likely benign	18	31413391	31413391	Human		name
156304013	CV1965246	single nucleotide variant	NM_177986.5(DSG4):c.1644G>A (p.Ser548=)	not provided [RCV002578361]	benign	18	31406084	31406084	Human		name
156267420	CV2030548	single nucleotide variant	NM_177986.5(DSG4):c.1374T>C (p.Tyr458=)	not provided [RCV002746521]	likely benign	18	31400977	31400977	Human		name
156333171	CV2112870	single nucleotide variant	NM_177986.5(DSG4):c.196A>G (p.Lys66Glu)	not provided [RCV002938480]	likely benign	18	31386799	31386799	Human		name
156215132	CV2385968	single nucleotide variant	NM_177986.5(DSG4):c.202A>G (p.Asn68Asp)	Inborn genetic diseases [RCV002744346]	uncertain significance	18	31386805	31386805	Human	1	name
156251281	CV2394292	single nucleotide variant	NM_177986.5(DSG4):c.100A>G (p.Ile34Val)	Inborn genetic diseases [RCV002768882]	uncertain significance	18	31386703	31386703	Human	1	name
401728660	CV2693714	single nucleotide variant	NM_177986.5(DSG4):c.208A>G (p.Ile70Val)	Inborn genetic diseases [RCV003270680]	uncertain significance	18	31386811	31386811	Human	1	name
405082844	CV2946321	single nucleotide variant	NM_177986.5(DSG4):c.1830T>A (p.Gly610=)	not provided [RCV003664743]	likely benign	18	31406270	31406270	Human		name
405210450	CV3034293	single nucleotide variant	NM_177986.5(DSG4):c.2190G>C (p.Ser730=)	not provided [RCV003708490]	likely benign	18	31411283	31411283	Human		name
405195635	CV3037592	single nucleotide variant	NM_177986.5(DSG4):c.1836G>A (p.Thr612=)	not provided [RCV003706883]	likely benign	18	31406276	31406276	Human		name
405088818	CV3044605	single nucleotide variant	NM_177986.5(DSG4):c.2733C>T (p.Tyr911=)	DSG4-related disorder [RCV003929306]\|not provided [RCV003717670]	likely benign	18	31413205	31413205	Human	1	name , trait , alternate_id
405211866	CV3059175	single nucleotide variant	NM_177986.5(DSG4):c.2997A>T (p.Pro999=)	DSG4-related disorder [RCV003948994]\|not provided [RCV003732049]	likely benign	18	31413469	31413469	Human	1	name , trait , alternate_id
405293109	CV3207213	single nucleotide variant	NM_177986.5(DSG4):c.1224T>A (p.Leu408=)	DSG4-related disorder [RCV003931612]	likely benign	18	31399490	31399490	Human		name , trait , alternate_id
405261115	CV3212244	single nucleotide variant	NM_177986.5(DSG4):c.1246T>C (p.Leu416=)	DSG4-related disorder [RCV003944384]	likely benign	18	31399512	31399512	Human		name , trait , alternate_id
405715401	CV3244822	single nucleotide variant	NM_177986.5(DSG4):c.268G>A (p.Val90Ile)	Inborn genetic diseases [RCV004377291]	uncertain significance	18	31388418	31388418	Human	1	name
11620346	CV331116	single nucleotide variant	NM_177986.5(DSG4):c.176G>A (p.Arg59Gln)	Hypotrichosis 6 [RCV000335561]\|Inborn genetic diseases [RCV002521141]	uncertain significance	18	31386779	31386779	Human	2	name
11620183	CV331124	single nucleotide variant	NM_177986.5(DSG4):c.1137G>T (p.Val379=)	Hypotrichosis 6 [RCV000333702]\|not provided [RCV000975802]	likely benign\|uncertain significance	18	31399403	31399403	Human	1	name
11624902	CV341393	single nucleotide variant	NM_177986.5(DSG4):c.2019C>T (p.Gly673=)	DSG4-related disorder [RCV003957668]\|Hypotrichosis 6 [RCV000391921]\|not provided [RCV000886050]	likely benign\|uncertain significance	18	31409537	31409537	Human	1	name , trait , alternate_id
11648418	CV348150	single nucleotide variant	NM_177986.5(DSG4):c.259A>C (p.Ile87Leu)	Hypotrichosis 6 [RCV000281588]	uncertain significance	18	31388409	31388409	Human	1	name
11630271	CV348163	single nucleotide variant	NM_177986.5(DSG4):c.1725A>G (p.Ala575=)	Hypotrichosis 6 [RCV000345194]	uncertain significance	18	31406165	31406165	Human	1	name
11632254	CV348164	single nucleotide variant	NM_177986.5(DSG4):c.1740A>G (p.Gln580=)	DSG4-related disorder [RCV003969929]\|Hypotrichosis 6 [RCV000402153]\|not provided [RCV000962581]	likely benign\|uncertain significance	18	31406180	31406180	Human	1	name , trait , alternate_id
11628922	CV348166	single nucleotide variant	NM_177986.5(DSG4):c.2166G>A (p.Gly722=)	Hypotrichosis 6 [RCV000311102]\|not provided [RCV000948460]	benign\|uncertain significance	18	31411259	31411259	Human	1	name
11628281	CV348168	single nucleotide variant	NM_177986.5(DSG4):c.2442C>T (p.Pro814=)	Hypotrichosis 6 [RCV000298269]\|not provided [RCV000971429]	benign\|likely benign\|uncertain significance	18	31412914	31412914	Human	1	name
11626506	CV348172	single nucleotide variant	NM_177986.5(DSG4):c.2748A>G (p.Pro916=)	Hypotrichosis 6 [RCV000264608]\|not provided [RCV001653590]	benign	18	31413220	31413220	Human	1	name
597862538	CV3813917	single nucleotide variant	NM_177986.5(DSG4):c.1392C>T (p.Tyr464=)	not provided [RCV005146986]	likely benign	18	31400995	31400995	Human		name
597909178	CV3829988	single nucleotide variant	NM_177986.5(DSG4):c.1989G>A (p.Leu663=)	not provided [RCV005182557]	likely benign	18	31409507	31409507	Human		name
598188954	CV3957276	single nucleotide variant	NM_177986.5(DSG4):c.248T>C (p.Ile83Thr)	Inborn genetic diseases [RCV005334463]	uncertain significance	18	31388398	31388398	Human	1	name
598189004	CV3957286	single nucleotide variant	NM_177986.5(DSG4):c.283C>T (p.Pro95Ser)	Inborn genetic diseases [RCV005334473]	uncertain significance	18	31388433	31388433	Human	1	name
15107518	CV715937	single nucleotide variant	NM_177986.5(DSG4):c.236C>T (p.Ser79Leu)	DSG4-related disorder [RCV003926122]\|Hypotrichosis 6 [RCV001124114]\|not provided [RCV000960306]	benign\|uncertain significance	18	31388386	31388386	Human	1	name , trait , alternate_id
15159368	CV715938	single nucleotide variant	NM_177986.5(DSG4):c.2391A>C (p.Arg797=)	Hypotrichosis 6 [RCV001124323]\|not provided [RCV000969696]	benign	18	31412863	31412863	Human	1	name
15141125	CV715939	single nucleotide variant	NM_177986.5(DSG4):c.2517A>G (p.Lys839=)	Hypotrichosis 6 [RCV001124324]\|not provided [RCV000966255]	benign\|uncertain significance	18	31412989	31412989	Human	1	name
15141131	CV715940	single nucleotide variant	NM_177986.5(DSG4):c.2901A>G (p.Arg967=)	DSG4-related disorder [RCV003970863]\|Hypotrichosis 6 [RCV001127402]\|not provided [RCV000966256]	benign\|likely benign\|uncertain significance	18	31413373	31413373	Human	1	name , trait , alternate_id
15170629	CV727696	single nucleotide variant	NM_177986.5(DSG4):c.1128T>C (p.Val376=)	Hypotrichosis 6 [RCV001123122]\|not provided [RCV000883506]	benign\|likely benign\|uncertain significance	18	31399394	31399394	Human	1	name
15164050	CV727697	single nucleotide variant	NM_177986.5(DSG4):c.1539C>T (p.Ile513=)	Hypotrichosis 6 [RCV001126891]\|not provided [RCV000882110]	benign\|likely benign	18	31403537	31403537	Human	1	name
15175334	CV741336	single nucleotide variant	NM_177986.5(DSG4):c.2589A>C (p.Pro863=)	Hypotrichosis 6 [RCV001126983]\|not provided [RCV000906188]	benign\|likely benign	18	31413061	31413061	Human	1	name
15130519	CV741337	single nucleotide variant	NM_177986.5(DSG4):c.2652T>C (p.Thr884=)	not provided [RCV000897617]	likely benign	18	31413124	31413124	Human		name
15118469	CV756426	single nucleotide variant	NM_177986.5(DSG4):c.2664T>C (p.Val888=)	not provided [RCV000917981]	likely benign	18	31413136	31413136	Human		name
28900064	CV879122	single nucleotide variant	NM_177986.5(DSG4):c.1210T>C (p.Leu404=)	DSG4-related disorder [RCV003918712]\|Hypotrichosis 6 [RCV001124204]	likely benign\|uncertain significance	18	31399476	31399476	Human	1	name , trait , alternate_id
28906888	CV879125	single nucleotide variant	NM_177986.5(DSG4):c.1719C>T (p.Asn573=)	Hypotrichosis 6 [RCV001127294]	uncertain significance	18	31406159	31406159	Human	1	name
28906893	CV879127	single nucleotide variant	NM_177986.5(DSG4):c.1800C>T (p.Ala600=)	Hypotrichosis 6 [RCV001127296]	uncertain significance	18	31406240	31406240	Human	1	name
28900354	CV879132	single nucleotide variant	NM_177986.5(DSG4):c.2523G>A (p.Arg841=)	Hypotrichosis 6 [RCV001124325]\|not provided [RCV003565460]	likely benign\|uncertain significance	18	31412995	31412995	Human	1	name
8556974	CV17760	single nucleotide variant	NM_177986.5(DSG4):c.574T>C (p.Ser192Pro)	Hypotrichosis 6 [RCV000002840]	pathogenic	18	31390712	31390712	Human	1	name
8556975	CV17761	duplication	NM_177986.5(DSG4):c.2038dup (p.Ser680fs)	Hypotrichosis 6 [RCV000002841]	pathogenic	18	31409555	31409556	Human	1	name
8556977	CV17763	single nucleotide variant	NM_177986.5(DSG4):c.800C>G (p.Pro267Arg)	Hypotrichosis 6 [RCV000002843]	pathogenic	18	31391193	31391193	Human	1	name
8556979	CV17765	single nucleotide variant	NM_177986.5(DSG4):c.865C>T (p.Arg289Ter)	Hypotrichosis 6 [RCV000002845]	pathogenic\|likely pathogenic	18	31392200	31392200	Human	1	name
156418429	CV1911096	single nucleotide variant	NM_177986.5(DSG4):c.737C>T (p.Ala246Val)	not provided [RCV002611618]	uncertain significance	18	31391130	31391130	Human		name
156449140	CV1944401	single nucleotide variant	NM_177986.5(DSG4):c.314G>A (p.Arg105His)	not provided [RCV003121252]	uncertain significance	18	31388464	31388464	Human		name
156007426	CV1981248	single nucleotide variant	NM_177986.5(DSG4):c.498T>G (p.Ile166Met)	Inborn genetic diseases [RCV002618733]\|not provided [RCV002626413]	uncertain significance	18	31388999	31388999	Human	1	name
156072832	CV2201366	single nucleotide variant	NM_177986.5(DSG4):c.595G>A (p.Val199Ile)	Inborn genetic diseases [RCV002660337]	likely benign	18	31390733	31390733	Human	1	name
156279596	CV2206286	single nucleotide variant	NM_177986.5(DSG4):c.713G>C (p.Arg238Thr)	Inborn genetic diseases [RCV002670069]	uncertain significance	18	31391106	31391106	Human	1	name
156328208	CV2217431	single nucleotide variant	NM_177986.5(DSG4):c.892G>A (p.Glu298Lys)	Inborn genetic diseases [RCV002672985]	uncertain significance	18	31392227	31392227	Human	1	name
155923546	CV2251988	single nucleotide variant	NM_177986.5(DSG4):c.946A>G (p.Asn316Asp)	Inborn genetic diseases [RCV002773331]	uncertain significance	18	31392281	31392281	Human	1	name
156101022	CV2260303	single nucleotide variant	NM_177986.5(DSG4):c.623T>C (p.Met208Thr)	Inborn genetic diseases [RCV002799126]\|not provided [RCV003698990]	likely benign\|uncertain significance	18	31390761	31390761	Human	1	name
156114432	CV2349209	single nucleotide variant	NM_177986.5(DSG4):c.377A>G (p.Tyr126Cys)	Inborn genetic diseases [RCV002980817]	uncertain significance	18	31388878	31388878	Human	1	name
156215144	CV2385969	single nucleotide variant	NM_177986.5(DSG4):c.935G>A (p.Gly312Glu)	Inborn genetic diseases [RCV002744347]	uncertain significance	18	31392270	31392270	Human	1	name
329401354	CV2460774	single nucleotide variant	NM_177986.5(DSG4):c.625T>C (p.Phe209Leu)	Inborn genetic diseases [RCV003198361]	uncertain significance	18	31390763	31390763	Human	1	name
329951931	CV2668101	single nucleotide variant	NM_177986.5(DSG4):c.968A>G (p.Asp323Gly)	Hypotrichosis 6 [RCV003229586]	pathogenic	18	31392303	31392303	Human	1	name
401730485	CV2711346	single nucleotide variant	NM_177986.5(DSG4):c.347A>G (p.Asp116Gly)	Inborn genetic diseases [RCV003271404]	uncertain significance	18	31388497	31388497	Human	1	name
401857637	CV2767416	single nucleotide variant	NM_177986.5(DSG4):c.884T>C (p.Leu295Pro)	Inborn genetic diseases [RCV003356626]	uncertain significance	18	31392219	31392219	Human	1	name
405715425	CV3244826	single nucleotide variant	NM_177986.5(DSG4):c.497T>C (p.Ile166Thr)	Inborn genetic diseases [RCV004377295]	uncertain significance	18	31388998	31388998	Human	1	name
405715436	CV3244828	single nucleotide variant	NM_177986.5(DSG4):c.581T>C (p.Ile194Thr)	Inborn genetic diseases [RCV004377297]	uncertain significance	18	31390719	31390719	Human	1	name
11660631	CV331120	single nucleotide variant	NM_177986.5(DSG4):c.928C>A (p.Leu310Ile)	Hypotrichosis 6 [RCV000368636]	uncertain significance	18	31392263	31392263	Human	1	name
11614046	CV331122	single nucleotide variant	NM_177986.5(DSG4):c.955G>A (p.Asp319Asn)	Hypotrichosis 6 [RCV000274042]\|not provided [RCV002521143]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	31392290	31392290	Human	1	name
11613952	CV341374	single nucleotide variant	NM_177986.5(DSG4):c.919T>G (p.Tyr307Asp)	Hypotrichosis 6 [RCV000272962]\|Inborn genetic diseases [RCV004021726]	uncertain significance	18	31392254	31392254	Human	2	name
11616006	CV341405	single nucleotide variant	NM_177986.5(DSG4):c.3066C>A (p.Pro1022=)	Hypotrichosis 6 [RCV000290890]\|not provided [RCV001690083]	benign	18	31413538	31413538	Human	1	name
11630877	CV346897	single nucleotide variant	NM_177986.5(DSG4):c.590A>G (p.Lys197Arg)	Hypotrichosis 6 [RCV000361209]\|Inborn genetic diseases [RCV005328242]	uncertain significance	18	31390728	31390728	Human	2	name
11628752	CV346900	single nucleotide variant	NM_177986.5(DSG4):c.715G>A (p.Gly239Ser)	Hypotrichosis 6 [RCV000307735]	uncertain significance	18	31391108	31391108	Human	1	name
11629603	CV346902	single nucleotide variant	NM_177986.5(DSG4):c.920A>G (p.Tyr307Cys)	Hypotrichosis 6 [RCV000328006]	uncertain significance	18	31392255	31392255	Human	1	name
11629917	CV348151	single nucleotide variant	NM_177986.5(DSG4):c.417G>C (p.Arg139Ser)	Hypotrichosis 6 [RCV000336655]\|Inborn genetic diseases [RCV003168485]\|not provided [RCV002521142]	uncertain significance	18	31388918	31388918	Human	2	name
11628458	CV348154	single nucleotide variant	NM_177986.5(DSG4):c.587A>G (p.Tyr196Cys)	Hypotrichosis 6 [RCV000301682]	uncertain significance	18	31390725	31390725	Human	1	name
11632417	CV348157	single nucleotide variant	NM_177986.5(DSG4):c.628A>T (p.Ile210Phe)	Hypotrichosis 6 [RCV000406685]	uncertain significance	18	31390766	31390766	Human	1	name
597650988	CV3663136	single nucleotide variant	NM_177986.5(DSG4):c.418C>T (p.Pro140Ser)	Inborn genetic diseases [RCV004974645]	uncertain significance	18	31388919	31388919	Human	1	name
597897599	CV3773937	single nucleotide variant	NM_177986.5(DSG4):c.383G>A (p.Arg128Gln)	not provided [RCV005111658]	likely benign	18	31388884	31388884	Human		name
598188933	CV3957271	single nucleotide variant	NM_177986.5(DSG4):c.866G>A (p.Arg289Gln)	Inborn genetic diseases [RCV005334458]	uncertain significance	18	31392201	31392201	Human	1	name
598188978	CV3957281	single nucleotide variant	NM_177986.5(DSG4):c.886G>A (p.Asp296Asn)	Inborn genetic diseases [RCV005334468]	uncertain significance	18	31392221	31392221	Human	1	name
598188988	CV3957283	single nucleotide variant	NM_177986.5(DSG4):c.925A>T (p.Ile309Phe)	Inborn genetic diseases [RCV005334470]	uncertain significance	18	31392260	31392260	Human	1	name
598189014	CV3957288	single nucleotide variant	NM_177986.5(DSG4):c.445G>T (p.Asp149Tyr)	Inborn genetic diseases [RCV005334475]	uncertain significance	18	31388946	31388946	Human	1	name
14693147	CV620618	deletion	NM_177986.5(DSG4):c.2928del (p.Asp976fs)	Hypotrichosis 6 [RCV000778527]	uncertain significance	18	31413400	31413400	Human		name
15201806	CV704575	single nucleotide variant	NM_177986.5(DSG4):c.460G>A (p.Ala154Thr)	Hypotrichosis 6 [RCV001126778]\|not provided [RCV000957731]	benign\|likely benign	18	31388961	31388961	Human	1	name
15193110	CV727695	single nucleotide variant	NM_177986.5(DSG4):c.980A>G (p.Asn327Ser)	Hypotrichosis 6 [RCV001123121]\|not provided [RCV000888856]	benign\|uncertain significance	18	31392315	31392315	Human	1	name
28905918	CV879115	single nucleotide variant	NM_177986.5(DSG4):c.398G>A (p.Arg133Gln)	Hypotrichosis 6 [RCV001126776]	uncertain significance	18	31388899	31388899	Human	1	name
28905920	CV879116	single nucleotide variant	NM_177986.5(DSG4):c.428T>G (p.Leu143Arg)	Hypotrichosis 6 [RCV001126777]	uncertain significance	18	31388929	31388929	Human	1	name
28907127	CV879134	single nucleotide variant	NM_177986.5(DSG4):c.3027A>G (p.Pro1009=)	Hypotrichosis 6 [RCV001127403]	uncertain significance	18	31413499	31413499	Human	1	name
8636474	CV91699	single nucleotide variant	NM_177986.3(DSG4):c.967G>A (p.Asp323Asn)	Malignant melanoma [RCV000071797]	not provided	18	31392302	31392302	Human		name
126731253	CV1021744	single nucleotide variant	NM_177986.5(DSG4):c.2065G>T (p.Glu689Ter)	not provided [RCV002970618]	pathogenic	18	31409583	31409583	Human		name
156262304	CV1913630	single nucleotide variant	NM_177986.5(DSG4):c.1214A>G (p.Asn405Ser)	not provided [RCV002627807]	uncertain significance	18	31399480	31399480	Human		name
156337246	CV2110224	single nucleotide variant	NM_177986.5(DSG4):c.1901G>A (p.Gly634Asp)	not provided [RCV002938703]	uncertain significance	18	31406341	31406341	Human		name
156318076	CV2137858	single nucleotide variant	NM_177986.5(DSG4):c.2920G>A (p.Val974Met)	Inborn genetic diseases [RCV003250669]\|not provided [RCV002963022]	likely benign\|uncertain significance	18	31413392	31413392	Human	1	name
156257837	CV2142293	single nucleotide variant	NM_177986.5(DSG4):c.2621A>C (p.Asn874Thr)	not provided [RCV002988364]	uncertain significance	18	31413093	31413093	Human		name
156239051	CV2193687	single nucleotide variant	NM_177986.5(DSG4):c.1601G>T (p.Gly534Val)	Inborn genetic diseases [RCV002645447]	uncertain significance	18	31403599	31403599	Human	1	name
156182422	CV2201887	single nucleotide variant	NM_177986.5(DSG4):c.1401G>T (p.Glu467Asp)	Inborn genetic diseases [RCV002665385]	uncertain significance	18	31401004	31401004	Human	1	name
156375228	CV2213535	single nucleotide variant	NM_177986.5(DSG4):c.1048G>A (p.Gly350Arg)	Inborn genetic diseases [RCV002677568]	uncertain significance	18	31399314	31399314	Human	1	name
156188826	CV2226794	single nucleotide variant	NM_177986.5(DSG4):c.1081G>A (p.Val361Ile)	Inborn genetic diseases [RCV002742720]	uncertain significance	18	31399347	31399347	Human	1	name
156186165	CV2236138	single nucleotide variant	NM_177986.5(DSG4):c.1375A>C (p.Ile459Leu)	Inborn genetic diseases [RCV002802571]	uncertain significance	18	31400978	31400978	Human	1	name
155951232	CV2238749	single nucleotide variant	NM_177986.5(DSG4):c.2995C>G (p.Pro999Ala)	Inborn genetic diseases [RCV002753070]	uncertain significance	18	31413467	31413467	Human	1	name
156318728	CV2260734	single nucleotide variant	NM_177986.5(DSG4):c.2977G>A (p.Gly993Ser)	Inborn genetic diseases [RCV002809821]	uncertain significance	18	31413449	31413449	Human	1	name
155975724	CV2270104	single nucleotide variant	NM_177986.5(DSG4):c.1101G>A (p.Met367Ile)	Inborn genetic diseases [RCV002818118]	uncertain significance	18	31399367	31399367	Human	1	name
155901773	CV2274573	single nucleotide variant	NM_177986.5(DSG4):c.2680A>G (p.Met894Val)	Inborn genetic diseases [RCV002836609]	likely benign	18	31413152	31413152	Human	1	name
156000141	CV2287347	single nucleotide variant	NM_177986.5(DSG4):c.2387G>A (p.Gly796Asp)	Inborn genetic diseases [RCV002865280]	uncertain significance	18	31412859	31412859	Human	1	name
156002060	CV2287912	single nucleotide variant	NM_177986.5(DSG4):c.1289G>A (p.Gly430Glu)	Inborn genetic diseases [RCV002865446]	uncertain significance	18	31400892	31400892	Human	1	name
156163231	CV2305487	single nucleotide variant	NM_177986.5(DSG4):c.2557G>A (p.Glu853Lys)	Inborn genetic diseases [RCV002916125]	uncertain significance	18	31413029	31413029	Human	1	name
156306095	CV2314832	single nucleotide variant	NM_177986.5(DSG4):c.2684C>T (p.Ala895Val)	Inborn genetic diseases [RCV002898393]	uncertain significance	18	31413156	31413156	Human	1	name
156199969	CV2331482	single nucleotide variant	NM_177986.5(DSG4):c.1025C>T (p.Ala342Val)	Inborn genetic diseases [RCV002931528]	uncertain significance	18	31399291	31399291	Human	1	name
155980894	CV2336974	single nucleotide variant	NM_177986.5(DSG4):c.1801G>A (p.Ala601Thr)	Inborn genetic diseases [RCV002973840]	likely benign	18	31406241	31406241	Human	1	name
156103533	CV2363404	single nucleotide variant	NM_177986.5(DSG4):c.2359G>A (p.Ala787Thr)	Inborn genetic diseases [RCV002662129]	uncertain significance	18	31412831	31412831	Human	1	name
156087314	CV2366374	single nucleotide variant	NM_177986.5(DSG4):c.1028C>T (p.Pro343Leu)	Inborn genetic diseases [RCV003001643]	uncertain significance	18	31399294	31399294	Human	1	name
11350743	CV237228	single nucleotide variant	NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu)	Hypotrichosis 6 [RCV000339262]\|not provided [RCV000224321]	benign\|likely benign\|uncertain significance	18	31403566	31403566	Human	2	name
11350743	CV237228	single nucleotide variant	NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu)	Hypotrichosis 6 [RCV000339262]\|not provided [RCV000224321]	benign\|likely benign\|uncertain significance	18	31403566	31403567	Human	2	name
156171631	CV2380724	single nucleotide variant	NM_177986.5(DSG4):c.1255G>A (p.Gly419Arg)	Inborn genetic diseases [RCV002698848]	uncertain significance	18	31399521	31399521	Human	1	name
156158888	CV2398072	single nucleotide variant	NM_177986.5(DSG4):c.1118G>A (p.Arg373Lys)	Inborn genetic diseases [RCV002764587]	uncertain significance	18	31399384	31399384	Human	1	name
329386712	CV2428396	single nucleotide variant	NM_177986.5(DSG4):c.1145G>C (p.Gly382Ala)	Inborn genetic diseases [RCV003189734]	uncertain significance	18	31399411	31399411	Human	1	name
329353911	CV2436622	single nucleotide variant	NM_177986.5(DSG4):c.2846A>C (p.Asn949Thr)	Inborn genetic diseases [RCV003201704]	uncertain significance	18	31413318	31413318	Human	1	name
329393264	CV2449604	single nucleotide variant	NM_177986.5(DSG4):c.2809G>A (p.Glu937Lys)	Inborn genetic diseases [RCV003193083]	uncertain significance	18	31413281	31413281	Human	1	name
329379254	CV2456176	single nucleotide variant	NM_177986.5(DSG4):c.2030T>C (p.Val677Ala)	Inborn genetic diseases [RCV003212431]	uncertain significance	18	31409548	31409548	Human	1	name
401755402	CV2682473	single nucleotide variant	NM_177986.5(DSG4):c.2707G>A (p.Gly903Arg)	Inborn genetic diseases [RCV003255274]	uncertain significance	18	31413179	31413179	Human	1	name
401730034	CV2700383	single nucleotide variant	NM_177986.5(DSG4):c.2143T>G (p.Tyr715Asp)	Inborn genetic diseases [RCV003271174]	uncertain significance	18	31411236	31411236	Human	1	name
401758792	CV2705138	single nucleotide variant	NM_177986.5(DSG4):c.1079C>G (p.Ser360Cys)	Inborn genetic diseases [RCV003256597]	uncertain significance	18	31399345	31399345	Human	1	name
401760809	CV2715940	single nucleotide variant	NM_177986.5(DSG4):c.1114G>A (p.Val372Met)	Inborn genetic diseases [RCV003299642]	uncertain significance	18	31399380	31399380	Human	1	name
401863147	CV2779207	single nucleotide variant	NM_177986.5(DSG4):c.1142A>G (p.Glu381Gly)	Inborn genetic diseases [RCV003343559]	uncertain significance	18	31399408	31399408	Human	1	name
401887968	CV2781798	single nucleotide variant	NM_177986.5(DSG4):c.2621A>G (p.Asn874Ser)	Inborn genetic diseases [RCV003367419]	uncertain significance	18	31413093	31413093	Human	1	name
401875051	CV2791044	single nucleotide variant	NM_177986.5(DSG4):c.1356T>G (p.Phe452Leu)	Inborn genetic diseases [RCV003362532]	uncertain significance	18	31400959	31400959	Human	1	name
405715333	CV3244812	single nucleotide variant	NM_177986.5(DSG4):c.1412T>C (p.Ile471Thr)	Inborn genetic diseases [RCV004377281]	uncertain significance	18	31401015	31401015	Human	1	name
405715340	CV3244813	single nucleotide variant	NM_177986.5(DSG4):c.1946T>C (p.Leu649Ser)	Inborn genetic diseases [RCV004377282]	uncertain significance	18	31409464	31409464	Human	1	name
405715348	CV3244814	single nucleotide variant	NM_177986.5(DSG4):c.1994C>T (p.Thr665Ile)	Inborn genetic diseases [RCV004377283]	uncertain significance	18	31409512	31409512	Human	1	name
405715355	CV3244815	single nucleotide variant	NM_177986.5(DSG4):c.2017G>A (p.Gly673Ser)	Inborn genetic diseases [RCV004377284]	uncertain significance	18	31409535	31409535	Human	1	name
405715361	CV3244816	single nucleotide variant	NM_177986.5(DSG4):c.2243G>A (p.Gly748Glu)	Inborn genetic diseases [RCV004377285]	uncertain significance	18	31411336	31411336	Human	1	name
405715368	CV3244817	single nucleotide variant	NM_177986.5(DSG4):c.2257T>G (p.Ser753Ala)	Inborn genetic diseases [RCV004377286]	likely benign	18	31411350	31411350	Human	1	name
405715374	CV3244818	single nucleotide variant	NM_177986.5(DSG4):c.2356A>G (p.Lys786Glu)	Inborn genetic diseases [RCV004377287]	uncertain significance	18	31412828	31412828	Human	1	name
405715382	CV3244819	single nucleotide variant	NM_177986.5(DSG4):c.2428G>A (p.Gly810Arg)	Inborn genetic diseases [RCV004377288]	uncertain significance	18	31412900	31412900	Human	1	name
405715388	CV3244820	single nucleotide variant	NM_177986.5(DSG4):c.2638T>A (p.Ser880Thr)	Inborn genetic diseases [RCV004377289]	uncertain significance	18	31413110	31413110	Human	1	name
405715409	CV3244823	single nucleotide variant	NM_177986.5(DSG4):c.2698G>A (p.Val900Met)	Inborn genetic diseases [RCV004377292]	likely benign	18	31413170	31413170	Human	1	name
405715412	CV3244824	single nucleotide variant	NM_177986.5(DSG4):c.2815G>A (p.Val939Ile)	Inborn genetic diseases [RCV004377293]	uncertain significance	18	31413287	31413287	Human	1	name
11618951	CV331134	single nucleotide variant	NM_177986.5(DSG4):c.1384G>A (p.Gly462Arg)	Hypotrichosis 6 [RCV000319529]	uncertain significance	18	31400987	31400987	Human	1	name
11618040	CV331139	single nucleotide variant	NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu)	Hypotrichosis 6 [RCV000309846]\|not provided [RCV001660674]	benign	18	31406370	31406370	Human	1	name
11660815	CV331141	single nucleotide variant	NM_177986.5(DSG4):c.2276G>C (p.Arg759Thr)	Hypotrichosis 6 [RCV000370387]	uncertain significance	18	31411369	31411369	Human	1	name
11623922	CV331145	single nucleotide variant	NM_177986.5(DSG4):c.2796T>G (p.Asn932Lys)	Hypotrichosis 6 [RCV000378963]\|not provided [RCV001618576]	benign\|likely benign	18	31413268	31413268	Human	1	name
11615830	CV331147	single nucleotide variant	NM_177986.5(DSG4):c.2945C>T (p.Thr982Met)	Hypotrichosis 6 [RCV000289277]	uncertain significance	18	31413417	31413417	Human	1	name
11612481	CV341376	single nucleotide variant	NM_177986.5(DSG4):c.1316T>C (p.Ile439Thr)	Hypotrichosis 6 [RCV000259689]\|not provided [RCV000957732]	benign\|likely benign\|uncertain significance	18	31400919	31400919	Human	1	name
11623567	CV341377	single nucleotide variant	NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg)	DSG4-related disorder [RCV003912366]\|Hypotrichosis 6 [RCV000374293]\|not provided [RCV000890179]	likely benign\|uncertain significance	18	31403478	31403478	Human	2	name , trait , alternate_id
11623567	CV341377	single nucleotide variant	NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg)	DSG4-related disorder [RCV003912366]\|Hypotrichosis 6 [RCV000374293]\|not provided [RCV000890179]	likely benign\|uncertain significance	18	31403478	31403479	Human	2	name , trait , alternate_id
11615317	CV341379	single nucleotide variant	NM_177986.5(DSG4):c.1487A>G (p.Asn496Ser)	Hypotrichosis 6 [RCV000284475]\|not provided [RCV002521145]	benign\|likely benign\|uncertain significance	18	31403485	31403485	Human	1	name
11623987	CV341383	single nucleotide variant	NM_177986.5(DSG4):c.1604T>C (p.Ile535Thr)	Hypotrichosis 6 [RCV000379849]\|not provided [RCV000962580]	benign\|likely benign	18	31403602	31403602	Human	1	name
11621236	CV341386	single nucleotide variant	NM_177986.5(DSG4):c.2015A>G (p.Glu672Gly)	Hypotrichosis 6 [RCV000345916]	uncertain significance	18	31409533	31409533	Human	1	name
11621904	CV341394	single nucleotide variant	NM_177986.5(DSG4):c.2560C>T (p.Pro854Ser)	Hypotrichosis 6 [RCV000353766]	uncertain significance	18	31413032	31413032	Human	1	name
11618853	CV341395	single nucleotide variant	NM_177986.5(DSG4):c.2734G>A (p.Gly912Ser)	Hypotrichosis 6 [RCV000318708]\|Inborn genetic diseases [RCV004021727]	uncertain significance	18	31413206	31413206	Human	2	name
407489623	CV3434811	single nucleotide variant	NM_177986.5(DSG4):c.2973G>A (p.Met991Ile)	Inborn genetic diseases [RCV004619962]	uncertain significance	18	31413445	31413445	Human	1	name
407489625	CV3434812	single nucleotide variant	NM_177986.5(DSG4):c.2690C>A (p.Ser897Tyr)	Inborn genetic diseases [RCV004619963]	uncertain significance	18	31413162	31413162	Human	1	name
407489628	CV3434813	single nucleotide variant	NM_177986.5(DSG4):c.2205C>G (p.Asn735Lys)	Inborn genetic diseases [RCV004619964]	uncertain significance	18	31411298	31411298	Human	1	name
407489632	CV3434814	single nucleotide variant	NM_177986.5(DSG4):c.1406T>C (p.Leu469Pro)	Inborn genetic diseases [RCV004619965]	uncertain significance	18	31401009	31401009	Human	1	name
407489633	CV3434815	single nucleotide variant	NM_177986.5(DSG4):c.2120A>G (p.Asp707Gly)	Inborn genetic diseases [RCV004619966]	uncertain significance	18	31409791	31409791	Human	1	name
407489637	CV3434816	single nucleotide variant	NM_177986.5(DSG4):c.2255C>A (p.Ala752Asp)	Inborn genetic diseases [RCV004619967]	uncertain significance	18	31411348	31411348	Human	1	name
407489642	CV3434817	single nucleotide variant	NM_177986.5(DSG4):c.1822A>G (p.Ile608Val)	Inborn genetic diseases [RCV004619968]	likely benign	18	31406262	31406262	Human	1	name
11627139	CV346903	single nucleotide variant	NM_177986.5(DSG4):c.2293A>G (p.Thr765Ala)	Hypotrichosis 6 [RCV000275911]\|not provided [RCV000957733]	benign\|likely benign	18	31411386	31411386	Human	1	name
11631769	CV348159	single nucleotide variant	NM_177986.5(DSG4):c.1158T>A (p.His386Gln)	Hypotrichosis 6 [RCV000388235]\|Inborn genetic diseases [RCV002521144]	uncertain significance	18	31399424	31399424	Human	2	name
11626458	CV348170	single nucleotide variant	NM_177986.5(DSG4):c.2731T>C (p.Tyr911His)	Hypotrichosis 6 [RCV000263534]\|Inborn genetic diseases [RCV002521147]	uncertain significance	18	31413203	31413203	Human	2	name
11631454	CV348171	single nucleotide variant	NM_177986.5(DSG4):c.2735G>A (p.Gly912Asp)	Hypotrichosis 6 [RCV000377940]	uncertain significance	18	31413207	31413207	Human	1	name
11629483	CV348173	single nucleotide variant	NM_177986.5(DSG4):c.2777A>G (p.Asp926Gly)	DSG4-related disorder [RCV003910251]\|Hypotrichosis 6 [RCV000324497]\|not provided [RCV000888715]	likely benign\|uncertain significance	18	31413249	31413249	Human	1	name , trait , alternate_id
408367295	CV3509254	single nucleotide variant	NM_177986.5(DSG4):c.2749T>C (p.Cys917Arg)	DSG4-related disorder [RCV004758336]	uncertain significance	18	31413221	31413221	Human		name , trait , alternate_id
596938305	CV3550148	single nucleotide variant	NM_177986.5(DSG4):c.2389C>T (p.Arg797Ter)	Hypotrichosis 6 [RCV004813450]	likely pathogenic	18	31412861	31412861	Human	1	name
597650975	CV3663134	single nucleotide variant	NM_177986.5(DSG4):c.1241T>C (p.Ile414Thr)	Inborn genetic diseases [RCV004974643]	uncertain significance	18	31399507	31399507	Human	1	name
597650980	CV3663135	single nucleotide variant	NM_177986.5(DSG4):c.2614G>A (p.Gly872Arg)	Inborn genetic diseases [RCV004974644]	uncertain significance	18	31413086	31413086	Human	1	name
597650992	CV3663137	single nucleotide variant	NM_177986.5(DSG4):c.1883T>C (p.Leu628Pro)	Inborn genetic diseases [RCV004974646]	uncertain significance	18	31406323	31406323	Human	1	name
597650999	CV3663138	single nucleotide variant	NM_177986.5(DSG4):c.2431G>T (p.Val811Phe)	Inborn genetic diseases [RCV004974647]	uncertain significance	18	31412903	31412903	Human	1	name
597651355	CV3663140	single nucleotide variant	NM_177986.5(DSG4):c.2380G>A (p.Asp794Asn)	Inborn genetic diseases [RCV004974649]	uncertain significance	18	31412852	31412852	Human	1	name
597651014	CV3663142	single nucleotide variant	NM_177986.5(DSG4):c.2548A>G (p.Thr850Ala)	Inborn genetic diseases [RCV004974650]	uncertain significance	18	31413020	31413020	Human	1	name
597651020	CV3663143	single nucleotide variant	NM_177986.5(DSG4):c.1184G>C (p.Arg395Pro)	Inborn genetic diseases [RCV004974651]	uncertain significance	18	31399450	31399450	Human	1	name
597651032	CV3663145	single nucleotide variant	NM_177986.5(DSG4):c.1183C>T (p.Arg395Trp)	Inborn genetic diseases [RCV004974653]	uncertain significance	18	31399449	31399449	Human	1	name
597651036	CV3663146	single nucleotide variant	NM_177986.5(DSG4):c.1243G>T (p.Asp415Tyr)	Inborn genetic diseases [RCV004974654]	uncertain significance	18	31399509	31399509	Human	1	name
597651043	CV3663147	single nucleotide variant	NM_177986.5(DSG4):c.2443G>A (p.Val815Ile)	Inborn genetic diseases [RCV004974655]	uncertain significance	18	31412915	31412915	Human	1	name
597651050	CV3663148	single nucleotide variant	NM_177986.5(DSG4):c.1614G>A (p.Met538Ile)	Inborn genetic diseases [RCV004974656]	uncertain significance	18	31403612	31403612	Human	1	name
598188928	CV3957270	single nucleotide variant	NM_177986.5(DSG4):c.2663T>C (p.Val888Ala)	Inborn genetic diseases [RCV005334457]	likely benign	18	31413135	31413135	Human	1	name
598188937	CV3957272	single nucleotide variant	NM_177986.5(DSG4):c.2114C>T (p.Thr705Ile)	Inborn genetic diseases [RCV005334459]	uncertain significance	18	31409785	31409785	Human	1	name
598188940	CV3957273	single nucleotide variant	NM_177986.5(DSG4):c.1970A>T (p.Gln657Leu)	Inborn genetic diseases [RCV005334460]	uncertain significance	18	31409488	31409488	Human	1	name
598188946	CV3957274	single nucleotide variant	NM_177986.5(DSG4):c.1971G>T (p.Gln657His)	Inborn genetic diseases [RCV005334461]	uncertain significance	18	31409489	31409489	Human	1	name
598188949	CV3957275	single nucleotide variant	NM_177986.5(DSG4):c.2747C>T (p.Pro916Leu)	Inborn genetic diseases [RCV005334462]	uncertain significance	18	31413219	31413219	Human	1	name
598188958	CV3957277	single nucleotide variant	NM_177986.5(DSG4):c.1094T>C (p.Phe365Ser)	Inborn genetic diseases [RCV005334464]	uncertain significance	18	31399360	31399360	Human	1	name
598188969	CV3957279	single nucleotide variant	NM_177986.5(DSG4):c.1789G>T (p.Asp597Tyr)	Inborn genetic diseases [RCV005334466]	likely benign	18	31406229	31406229	Human	1	name
598188973	CV3957280	single nucleotide variant	NM_177986.5(DSG4):c.1580G>A (p.Cys527Tyr)	Inborn genetic diseases [RCV005334467]	uncertain significance	18	31403578	31403578	Human	1	name
598188983	CV3957282	single nucleotide variant	NM_177986.5(DSG4):c.1604T>G (p.Ile535Arg)	Inborn genetic diseases [RCV005334469]	uncertain significance	18	31403602	31403602	Human	1	name
598188993	CV3957284	single nucleotide variant	NM_177986.5(DSG4):c.1514G>A (p.Cys505Tyr)	Inborn genetic diseases [RCV005334471]	uncertain significance	18	31403512	31403512	Human	1	name
598188998	CV3957285	single nucleotide variant	NM_177986.5(DSG4):c.1802C>T (p.Ala601Val)	Inborn genetic diseases [RCV005334472]	uncertain significance	18	31406242	31406242	Human	1	name
598189010	CV3957287	single nucleotide variant	NM_177986.5(DSG4):c.1285A>G (p.Ile429Val)	Inborn genetic diseases [RCV005334474]	uncertain significance	18	31400888	31400888	Human	1	name
13820812	CV576181	single nucleotide variant	NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)	DSG4-related disorder [RCV003928177]\|Hypotrichosis 6 [RCV000709894]\|not provided [RCV000955536]	benign\|uncertain significance\|not provided	18	31399464	31399464	Human	1	name , trait , alternate_id
15161790	CV727700	single nucleotide variant	NM_177986.5(DSG4):c.2366C>T (p.Ala789Val)	DSG4-related disorder [RCV003948313]\|Hypotrichosis 6 [RCV001124321]\|Inborn genetic diseases [RCV004028306]\|not provided [RCV000881635]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	31412838	31412838	Human	2	name , trait , alternate_id
15149064	CV741338	single nucleotide variant	NM_177986.5(DSG4):c.2795A>G (p.Asn932Ser)	Hypotrichosis 6 [RCV001127401]\|Inborn genetic diseases [RCV004028509]\|not provided [RCV000900854]	likely benign\|uncertain significance	18	31413267	31413267	Human	2	name
28900057	CV879119	single nucleotide variant	NM_177986.5(DSG4):c.1148C>T (p.Pro383Leu)	Hypotrichosis 6 [RCV001124201]	uncertain significance	18	31399414	31399414	Human	1	name
28900059	CV879120	single nucleotide variant	NM_177986.5(DSG4):c.1193T>A (p.Ile398Lys)	Hypotrichosis 6 [RCV001124202]	uncertain significance	18	31399459	31399459	Human	1	name
28900062	CV879121	single nucleotide variant	NM_177986.5(DSG4):c.1199G>A (p.Gly400Glu)	Hypotrichosis 6 [RCV001124203]	uncertain significance	18	31399465	31399465	Human	1	name
28906142	CV879123	single nucleotide variant	NM_177986.5(DSG4):c.1366T>C (p.Ser456Pro)	Hypotrichosis 6 [RCV001126890]\|Inborn genetic diseases [RCV004978038]	uncertain significance	18	31400969	31400969	Human	2	name
28906886	CV879124	single nucleotide variant	NM_177986.5(DSG4):c.1655C>A (p.Thr552Lys)	DSG4-related disorder [RCV003945840]\|Hypotrichosis 6 [RCV001127293]\|not provided [RCV003565463]	benign\|likely benign\|uncertain significance	18	31406095	31406095	Human	1	name , trait , alternate_id
28906891	CV879126	single nucleotide variant	NM_177986.5(DSG4):c.1753T>C (p.Tyr585His)	Hypotrichosis 6 [RCV001127295]\|Inborn genetic diseases [RCV002556784]	uncertain significance	18	31406193	31406193	Human	2	name
28897496	CV879128	single nucleotide variant	NM_177986.5(DSG4):c.2104G>A (p.Ala702Thr)	Hypotrichosis 6 [RCV001123221]	uncertain significance	18	31409775	31409775	Human	1	name
28897499	CV879129	single nucleotide variant	NM_177986.5(DSG4):c.2266G>T (p.Ala756Ser)	Hypotrichosis 6 [RCV001123222]	uncertain significance	18	31411359	31411359	Human	1	name
28900345	CV879130	single nucleotide variant	NM_177986.5(DSG4):c.2308G>A (p.Ala770Thr)	Hypotrichosis 6 [RCV001124320]\|not provided [RCV005093573]	benign\|uncertain significance	18	31411401	31411401	Human	1	name
28900349	CV879131	single nucleotide variant	NM_177986.5(DSG4):c.2387G>T (p.Gly796Val)	Hypotrichosis 6 [RCV001124322]\|Inborn genetic diseases [RCV002556693]\|not provided [RCV005093574]	likely benign\|uncertain significance	18	31412859	31412859	Human	2	name
28906313	CV879133	single nucleotide variant	NM_177986.5(DSG4):c.2705A>G (p.His902Arg)	Hypotrichosis 6 [RCV001126984]\|Inborn genetic diseases [RCV002558252]	uncertain significance	18	31413177	31413177	Human	2	name
8636475	CV91700	single nucleotide variant	NM_177986.3(DSG4):c.2227G>A (p.Gly743Ser)	Malignant melanoma [RCV000071798]	not provided	18	31411320	31411320	Human		name
8636476	CV91701	single nucleotide variant	NM_177986.3(DSG4):c.2234T>G (p.Met745Arg)	Malignant melanoma [RCV000071799]	not provided	18	31411327	31411327	Human		name
151859343	CV1373886	single nucleotide variant	NM_177986.5(DSG4):c.3092G>A (p.Arg1031Gln)	not provided [RCV001938340]	uncertain significance	18	31413564	31413564	Human		name
329387496	CV2436503	single nucleotide variant	NM_177986.5(DSG4):c.3016A>G (p.Met1006Val)	Inborn genetic diseases [RCV003190134]	uncertain significance	18	31413488	31413488	Human	1	name
329951932	CV2668102	deletion	NM_177986.5(DSG4):c.126_129del (p.Thr43fs)	Hypotrichosis 6 [RCV003229587]	pathogenic	18	31386727	31386730	Human	1	name
401748469	CV2698393	single nucleotide variant	NM_177986.5(DSG4):c.3061T>A (p.Ser1021Thr)	Inborn genetic diseases [RCV003253109]	uncertain significance	18	31413533	31413533	Human	1	name
405715418	CV3244825	single nucleotide variant	NM_177986.5(DSG4):c.3105A>G (p.Ile1035Met)	Inborn genetic diseases [RCV004377294]	uncertain significance	18	31413577	31413577	Human	1	name
11621097	CV341402	single nucleotide variant	NM_177986.5(DSG4):c.3020T>C (p.Met1007Thr)	Hypotrichosis 6 [RCV000344664]\|not provided [RCV002521148]	uncertain significance	18	31413492	31413492	Human	1	name
11624391	CV341403	single nucleotide variant	NM_177986.5(DSG4):c.3023G>A (p.Ser1008Asn)	DSG4-related disorder [RCV003922391]\|Hypotrichosis 6 [RCV000385158]\|Inborn genetic diseases [RCV004021728]\|not provided [RCV000913431]	likely benign\|uncertain significance	18	31413495	31413495	Human	2	name , trait , alternate_id
11621633	CV341413	single nucleotide variant	NM_177986.5(DSG4):c.3069G>A (p.Met1023Ile)	Hypotrichosis 6 [RCV000350560]\|not provided [RCV000957734]	benign\|likely benign	18	31413541	31413541	Human	1	name
597651003	CV3663139	single nucleotide variant	NM_177986.5(DSG4):c.3049G>A (p.Val1017Ile)	Inborn genetic diseases [RCV004974648]\|not provided [RCV005402221]	likely benign\|uncertain significance	18	31413521	31413521	Human	1	name
14693148	CV620619	single nucleotide variant	NM_177986.5(DSG4):c.3091C>T (p.Arg1031Ter)	Hypotrichosis 6 [RCV000778528]	conflicting interpretations of pathogenicity\|uncertain significance	18	31413563	31413563	Human		name
15128546	CV772115	single nucleotide variant	NM_177986.5(DSG4):c.3104T>C (p.Ile1035Thr)	not provided [RCV000941735]	likely benign	18	31413576	31413576	Human		name
28897754	CV879135	single nucleotide variant	NM_177986.5(DSG4):c.3106C>T (p.His1036Tyr)	Hypotrichosis 6 [RCV001123327]	uncertain significance	18	31413578	31413578	Human	1	name
8636477	CV91702	single nucleotide variant	NM_177986.3(DSG4):c.3004C>T (p.Gln1002Ter)	Malignant melanoma [RCV000071800]	not provided	18	31413476	31413476	Human		name
126731251	CV1021743	deletion	NM_177986.5(DSG4):c.1967_1970del (p.Lys656fs)	Hypotrichosis 6 [RCV001333666]	pathogenic	18	31409483	31409486	Human		name
150540446	CV1314571	deletion	NM_177986.5(DSG4):c.1388_1391del (p.Ile463fs)	Hypotrichosis 6 [RCV001781004]	likely pathogenic	18	31400990	31400993	Human		name
42722960	CV985362	duplication	NM_177986.5(DSG4):c.1168_1172dup (p.Phe392fs)	Hypotrichosis 6 [RCV001781003]	pathogenic\|likely pathogenic	18	31399433	31399434	Human		name
150550959	CV1292330	deletion	NM_177986.5(DSG4):c.2307del (p.Asp768_Tyr769insTer)	not provided [RCV001753937]	uncertain significance	18	31411400	31411400	Human		name
156139144	CV2032847	indel	NM_177986.5(DSG4):c.1970_1971delinsTT (p.Gln657Leu)	not provided [RCV002740834]	uncertain significance	18	31409488	31409489	Human		name
405866678	CV3401063	deletion	NM_177986.5(DSG4):c.386_400del (p.Ala129_Arg133del)	Hypotrichosis 6 [RCV004577179]	uncertain significance	18	31388883	31388897	Human	1	name
15177738	CV727698	duplication	NM_177986.5(DSG4):c.2257_2295dup (p.Ser753_Thr765dup)	DSG4-related disorder [RCV003930632]\|not provided [RCV000884898]	benign	18	31411347	31411348	Human	1	name , trait , alternate_id
405220267	CV2969658	microsatellite	NM_177986.5(DSG4):c.1375_1376insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTCAAAATATA (p.Ile459fs)	not provided [RCV003680573]	pathogenic	18	31400962	31400963	Human		name
15161783	CV727699	insertion	NM_177986.5(DSG4):c.2295_2296insTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAGCC (p.Thr765_Leu766insSerGlyAlaAlaArgLysArgSerSerThrMetGlyAla)	not provided [RCV000881634]	benign\|conflicting interpretations of pathogenicity	18	31411386	31411387	Human		name

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