Erbb3 Variant Search Result - Rat Genome Database

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176 records found for search term Erbb3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
597726276	CV3710528	single nucleotide variant	NM_001982.4(ERBB3):c.83-2A>G	Erythroleukemia, familial, susceptibility to [RCV005011427]	likely pathogenic	12	56083749	56083749	Human	3	name
150334475	CV1172451	single nucleotide variant	NM_001982.4(ERBB3):c.83-46G>T	not provided [RCV001540066]	benign	12	56083705	56083705	Human		name
150436913	CV1245322	single nucleotide variant	NM_001982.4(ERBB3):c.234+8A>T	Lethal congenital contracture syndrome 2 [RCV001661289]\|Visceral neuropathy, familial [RCV001661290]\|not provided [RCV001713672]	benign	12	56083910	56083910	Human	2	name
597860874	CV3880736	single nucleotide variant	NM_001982.4(ERBB3):c.234+2T>C	ERBB3-related disorder [RCV005229570]	likely pathogenic	12	56083904	56083904	Human		name , trait , alternate_id
15117777	CV779536	single nucleotide variant	NM_001982.4(ERBB3):c.422-7A>T	not provided [RCV000962262]	benign	12	56086524	56086524	Human		name
150435399	CV1214779	single nucleotide variant	NM_001982.4(ERBB3):c.3129+9A>C	Lethal congenital contracture syndrome 2 [RCV001658316]\|Visceral neuropathy, familial [RCV001658317]\|not provided [RCV001613774]	benign	12	56100038	56100038	Human	7	name
150515968	CV1216393	single nucleotide variant	NM_001982.4(ERBB3):c.235-97A>G	not provided [RCV001608584]	benign	12	56084898	56084898	Human		name
150498537	CV1255595	single nucleotide variant	NM_001982.4(ERBB3):c.547+34C>A	not provided [RCV001676383]	benign	12	56086690	56086690	Human		name
150466589	CV1255764	single nucleotide variant	NM_001982.4(ERBB3):c.3503-7C>T	not provided [RCV001670398]	benign	12	56101522	56101522	Human		name
150495272	CV1282901	single nucleotide variant	NM_001982.4(ERBB3):c.82+213T>C	not provided [RCV001717342]	benign	12	56080595	56080595	Human		name
150545213	CV1307667	single nucleotide variant	NM_001982.4(ERBB3):c.732+38G>C	not provided [RCV001774945]	likely benign	12	56087951	56087951	Human		name
150539355	CV1308698	single nucleotide variant	NM_001982.4(ERBB3):c.733-30A>G	not provided [RCV001766202]	likely benign	12	56087991	56087991	Human		name
401722518	CV2737033	single nucleotide variant	NM_001982.4(ERBB3):c.1914-7C>G	Visceral neuropathy, familial, 1, autosomal recessive [RCV003313825]	pathogenic	12	56095658	56095658	Human	1	name
8563203	CV27611	single nucleotide variant	NM_001982.4(ERBB3):c.1184-9A>G	Lethal congenital contracture syndrome 2 [RCV000013400]	pathogenic	12	56092977	56092977	Human	1	name
401919103	CV2794761	single nucleotide variant	NM_001982.4(ERBB3):c.3202-2A>G	Lethal congenital contracture syndrome 2 [RCV003388436]	likely pathogenic	12	56101059	56101059	Human	1	name
596925199	CV3541804	single nucleotide variant	NM_001982.4(ERBB3):c.2056-3C>G	Visceral neuropathy, familial, 1, autosomal recessive [RCV004795515]	uncertain significance	12	56096500	56096500	Human	1	name
12743059	CV361494	single nucleotide variant	NM_001982.4(ERBB3):c.2274+1G>A	not provided [RCV000415949]	likely pathogenic	12	56096847	56096847	Human		name
598126920	CV3887920	single nucleotide variant	NM_001982.4(ERBB3):c.2938-7G>A	not provided [RCV005242606]	likely benign	12	56099831	56099831	Human		name
150333292	CV1172452	single nucleotide variant	NM_001982.4(ERBB3):c.547+143G>A	not provided [RCV001539417]	benign	12	56086799	56086799	Human	2	name
150333292	CV1172452	single nucleotide variant	NM_001982.4(ERBB3):c.547+143G>A	not provided [RCV001539417]	benign	12	56086799	56086800	Human	2	name
150513988	CV1210802	single nucleotide variant	NM_001982.4(ERBB3):c.235-121A>C	not provided [RCV001598843]	benign	12	56084874	56084874	Human		name
150469800	CV1219134	single nucleotide variant	NM_001982.4(ERBB3):c.3502+17A>C	not provided [RCV001614886]	benign	12	56101378	56101378	Human		name
150466683	CV1240450	single nucleotide variant	NM_001982.4(ERBB3):c.875-147T>G	not provided [RCV001650211]	benign	12	56088396	56088396	Human	2	name
150512242	CV1245323	single nucleotide variant	NM_001982.4(ERBB3):c.2616+16G>C	Lethal congenital contracture syndrome 2 [RCV001661291]\|Visceral neuropathy, familial [RCV001661292]\|not provided [RCV001751807]	benign\|likely benign	12	56097956	56097956	Human	2	name
150456187	CV1259976	single nucleotide variant	NM_001982.4(ERBB3):c.547+208G>A	not provided [RCV001681455]	benign	12	56086864	56086864	Human	5	name
150448291	CV1261947	single nucleotide variant	NM_001982.4(ERBB3):c.235-165A>G	not provided [RCV001680332]	benign	12	56084830	56084830	Human		name
150461826	CV1276005	single nucleotide variant	NM_001982.4(ERBB3):c.234+316A>C	not provided [RCV001709943]	benign	12	56084218	56084218	Human		name
150515364	CV1285516	single nucleotide variant	NM_001982.4(ERBB3):c.235-172G>A	not provided [RCV001722969]	benign	12	56084823	56084823	Human		name
150556911	CV1307642	single nucleotide variant	NM_001005915.1(ERBB3):c.-193A>T	not provided [RCV001774920]	likely benign	12	56080108	56080108	Human		name
150545208	CV1307665	single nucleotide variant	NM_001982.4(ERBB3):c.547+326A>T	not provided [RCV001774943]	likely benign	12	56086982	56086982	Human		name
150532867	CV1308166	single nucleotide variant	NM_001982.4(ERBB3):c.421+249C>T	not provided [RCV001753157]	likely benign	12	56085430	56085430	Human		name
150543286	CV1308932	single nucleotide variant	NM_001982.4(ERBB3):c.422-229C>T	not provided [RCV001769845]	likely benign	12	56086302	56086302	Human		name
405261188	CV3186097	single nucleotide variant	NM_001982.4(ERBB3):c.421+110T>A	not provided [RCV003885173]	likely benign	12	56085291	56085291	Human		name
405267049	CV3218485	single nucleotide variant	NM_001982.4(ERBB3):c.421+129T>G	ERBB3-related disorder [RCV003947269]	uncertain significance	12	56085310	56085310	Human		name , trait , alternate_id
14396766	CV612957	single nucleotide variant	NM_001982.4(ERBB3):c.421+123G>T	not provided [RCV000761833]	uncertain significance	12	56085304	56085304	Human		name
15120234	CV787813	single nucleotide variant	NM_001982.4(ERBB3):c.1614-10C>T	not provided [RCV000979257]	benign	12	56094089	56094089	Human		name
150511711	CV1212816	duplication	NM_001982.4(ERBB3):c.1860-293dup	not provided [RCV001598048]	benign	12	56094951	56094952	Human		name
150507875	CV1229197	single nucleotide variant	NM_001982.4(ERBB3):c.1860-128G>A	not provided [RCV001636068]	benign	12	56095129	56095129	Human	3	name
150507875	CV1229197	single nucleotide variant	NM_001982.4(ERBB3):c.1860-128G>A	not provided [RCV001636068]	benign	12	56095129	56095130	Human	3	name
150487824	CV1237392	single nucleotide variant	NM_001982.4(ERBB3):c.2616+261A>G	not provided [RCV001654241]	benign	12	56098201	56098201	Human		name
150431439	CV1243696	single nucleotide variant	NM_001982.4(ERBB3):c.1109+207G>A	not provided [RCV001663316]	benign	12	56089075	56089075	Human		name
150503084	CV1257708	deletion	NM_001982.4(ERBB3):c.2617-238del	not provided [RCV001677396]	benign	12	56098249	56098249	Human		name
150494860	CV1282779	single nucleotide variant	NM_001982.4(ERBB3):c.2616+156T>G	not provided [RCV001717274]	benign	12	56098096	56098096	Human		name
150541621	CV1306475	deletion	NM_001982.4(ERBB3):c.2460+202del	not provided [RCV001768097]	likely benign	12	56097432	56097432	Human		name
150534722	CV1307925	single nucleotide variant	NM_001982.4(ERBB3):c.2839+282C>G	not provided [RCV001757647]	likely benign	12	56099187	56099187	Human		name
150536146	CV1309149	single nucleotide variant	NM_001982.4(ERBB3):c.1109+202A>G	not provided [RCV001759356]	likely benign	12	56089070	56089070	Human		name
401722522	CV2737034	microsatellite	NM_001982.4(ERBB3):c.2942_2945del	Visceral neuropathy, familial, 1, autosomal recessive [RCV003313826]	pathogenic	12	56099836	56099839	Human		name
401738917	CV2738426	microsatellite	NM_001982.4(ERBB3):c.2938-3_2938-2del	not specified [RCV004800206]	likely pathogenic\|likely benign	12	56099832	56099833	Human		name
15175338	CV725195	single nucleotide variant	NM_001982.4(ERBB3):c.78G>A (p.Gln26=)	not provided [RCV000884340]	benign	12	56080378	56080378	Human		name
15165355	CV753505	single nucleotide variant	NM_001982.4(ERBB3):c.231G>A (p.Leu77=)	ERBB3-related disorder [RCV003933143]\|not provided [RCV000926604]	likely benign	12	56083899	56083899	Human		name , trait , alternate_id
15108660	CV753506	single nucleotide variant	NM_001982.4(ERBB3):c.258T>C (p.Tyr86=)	not provided [RCV000916183]	likely benign	12	56085018	56085018	Human		name
21074286	CV796803	single nucleotide variant	NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu)	ERBB3-related disorder [RCV003962975]\|Erythroleukemia, familial, susceptibility to [RCV005400481]\|not provided [RCV000994933]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	56083757	56083757	Human	3	name , trait , alternate_id
150470350	CV1259811	single nucleotide variant	NM_001982.4(ERBB3):c.1347T>C (p.Ile449=)	not provided [RCV001684113]	benign	12	56093417	56093417	Human		name
155903925	CV2282318	single nucleotide variant	NM_001982.4(ERBB3):c.290T>C (p.Leu97Pro)	not specified [RCV004133144]	uncertain significance	12	56085050	56085050	Human		name
155925225	CV2358290	single nucleotide variant	NM_001982.4(ERBB3):c.124G>A (p.Ala42Thr)	not specified [RCV004212074]	uncertain significance	12	56083792	56083792	Human		name
243059055	CV2409934	single nucleotide variant	NM_001982.4(ERBB3):c.121G>A (p.Asp41Asn)	not provided [RCV003147108]	uncertain significance	12	56083789	56083789	Human		name
401873862	CV2749860	single nucleotide variant	NM_001982.4(ERBB3):c.180G>A (p.Met60Ile)	Malignant tumor of urinary bladder [RCV003332988]	pathogenic	12	56083848	56083848	Human	2	name
401932202	CV2807075	single nucleotide variant	NM_001982.4(ERBB3):c.2607T>C (p.Ser869=)	not provided [RCV003391874]	likely benign	12	56097931	56097931	Human		name
405293927	CV3203278	single nucleotide variant	NM_001982.4(ERBB3):c.1911C>T (p.Ile637=)	ERBB3-related disorder [RCV003933839]	likely benign	12	56095308	56095308	Human		name , trait , alternate_id
405279220	CV3206838	single nucleotide variant	NM_001982.4(ERBB3):c.1551C>T (p.Cys517=)	ERBB3-related disorder [RCV003919402]	likely benign	12	56093834	56093834	Human		name , trait , alternate_id
596948037	CV3547629	single nucleotide variant	NM_001982.4(ERBB3):c.1089T>C (p.Phe363=)	not provided [RCV004811934]	likely benign	12	56088848	56088848	Human		name
597748253	CV3671440	single nucleotide variant	NM_001982.4(ERBB3):c.2430G>A (p.Leu810=)	not specified [RCV004923062]	likely benign	12	56097200	56097200	Human		name
597726283	CV3710529	single nucleotide variant	NM_001982.4(ERBB3):c.237G>A (p.Trp79Ter)	Erythroleukemia, familial, susceptibility to [RCV005011428]	likely pathogenic	12	56084997	56084997	Human	3	name
597903970	CV3793196	single nucleotide variant	NM_001982.4(ERBB3):c.1911C>A (p.Ile637=)	not provided [RCV005153164]	likely benign	12	56095308	56095308	Human		name
13831990	CV582487	single nucleotide variant	NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg)	not provided [RCV000722675]	uncertain significance	12	56083889	56083889	Human		name
15189145	CV738751	single nucleotide variant	NM_001982.4(ERBB3):c.2041T>C (p.Leu681=)	not provided [RCV000909567]	likely benign	12	56095792	56095792	Human		name
15168779	CV753507	single nucleotide variant	NM_001982.4(ERBB3):c.1209G>A (p.Pro403=)	not provided [RCV000927364]	likely benign	12	56093011	56093011	Human		name
15194783	CV753508	single nucleotide variant	NM_001982.4(ERBB3):c.1590G>C (p.Val530=)	not provided [RCV000911222]	benign\|likely benign	12	56093873	56093873	Human		name
15100451	CV769224	single nucleotide variant	NM_001982.4(ERBB3):c.2532A>T (p.Ser844=)	ERBB3-related disorder [RCV003970604]\|not provided [RCV000936635]	benign\|likely benign	12	56097856	56097856	Human		name , trait , alternate_id
15129020	CV784433	single nucleotide variant	NM_001982.4(ERBB3):c.1467G>A (p.Pro489=)	not provided [RCV000980810]	likely benign	12	56093537	56093537	Human		name
8634790	CV90010	single nucleotide variant	NM_001982.3(ERBB3):c.1638G>A (p.Glu546=)	Malignant melanoma [RCV000070107]	not provided	12	56094123	56094123	Human		name
127288670	CV1152505	single nucleotide variant	NM_001982.4(ERBB3):c.532G>A (p.Asp178Asn)	not provided [RCV001508691]	uncertain significance	12	56086641	56086641	Human		name
150433150	CV1230422	deletion	NM_001982.4(ERBB3):c.2617-239_2617-238del	not provided [RCV001643367]	benign	12	56098249	56098250	Human		name
150489512	CV1238955	single nucleotide variant	NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=)	Lethal congenital contracture syndrome 2 [RCV001658383]\|Visceral neuropathy, familial [RCV001658384]\|not provided [RCV001654523]	benign	12	56101207	56101207	Human	2	name
156133621	CV2382983	single nucleotide variant	NM_001982.4(ERBB3):c.829C>T (p.His277Tyr)	not specified [RCV004217569]	uncertain significance	12	56088117	56088117	Human		name
156100107	CV2386695	single nucleotide variant	NM_001982.4(ERBB3):c.394C>T (p.Arg132Cys)	not specified [RCV004233397]	uncertain significance	12	56085154	56085154	Human		name
401782465	CV2719830	single nucleotide variant	NM_001982.4(ERBB3):c.776G>A (p.Cys259Tyr)	not specified [RCV004329248]	uncertain significance	12	56088064	56088064	Human		name
401873783	CV2749819	single nucleotide variant	NM_001982.4(ERBB3):c.307C>T (p.Arg103Cys)	Malignant tumor of urinary bladder [RCV003332947]	pathogenic	12	56085067	56085067	Human	2	name
401855448	CV2752928	single nucleotide variant	NM_001982.4(ERBB3):c.650A>C (p.His217Pro)	Lethal congenital contracture syndrome 2 [RCV003337982]	uncertain significance	12	56087831	56087831	Human	1	name
401932200	CV2807074	single nucleotide variant	NM_001982.4(ERBB3):c.611C>T (p.Thr204Ile)	not provided [RCV003391873]	likely benign	12	56087640	56087640	Human		name
405283646	CV3191819	single nucleotide variant	NM_001982.4(ERBB3):c.3588G>A (p.Glu1196=)	ERBB3-related disorder [RCV003921914]	likely benign	12	56101614	56101614	Human		name , trait , alternate_id
405277361	CV3195503	single nucleotide variant	NM_001982.4(ERBB3):c.3888G>A (p.Gln1296=)	ERBB3-related disorder [RCV003904285]	likely benign	12	56101914	56101914	Human		name , trait , alternate_id
405740399	CV3259350	single nucleotide variant	NM_001982.4(ERBB3):c.474G>A (p.Met158Ile)	not specified [RCV004380488]	uncertain significance	12	56086583	56086583	Human		name
405740412	CV3259352	single nucleotide variant	NM_001982.4(ERBB3):c.491G>A (p.Arg164Lys)	not specified [RCV004380490]	likely benign	12	56086600	56086600	Human		name
407479627	CV3441945	single nucleotide variant	NM_001982.4(ERBB3):c.507C>A (p.Asp169Glu)	not specified [RCV004617821]	uncertain significance	12	56086616	56086616	Human		name
12840257	CV363046	single nucleotide variant	NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg)	Colonic neoplasm [RCV000430351]\|Neoplasm of stomach [RCV000440625]	likely pathogenic	12	56088138	56088138	Human	2	name
12837271	CV363069	single nucleotide variant	NM_001982.4(ERBB3):c.785C>A (p.Pro262His)	Neoplasm [RCV000424878]	likely pathogenic	12	56088073	56088073	Human	1	name
12836269	CV363286	single nucleotide variant	NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr)	Breast neoplasm [RCV000440744]\|Gastric adenocarcinoma [RCV000423102]\|Malignant neoplasm of body of uterus [RCV000433369]\|Transitional cell carcinoma of the bladder [RCV000424195]\|Uterine carcinosarcoma [RCV000443967]	likely pathogenic	12	56088557	56088557	Human	3	name
12838669	CV363287	single nucleotide variant	NM_001982.4(ERBB3):c.890A>T (p.Asp297Val)	Breast neoplasm [RCV000435426]\|Gastric adenocarcinoma [RCV000434468]\|Malignant neoplasm of body of uterus [RCV000442973]\|Transitional cell carcinoma of the bladder [RCV000427382]\|Uterine carcinosarcoma [RCV000441987]	likely pathogenic	12	56088558	56088558	Human	3	name
12834432	CV363288	single nucleotide variant	NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn)	Breast neoplasm [RCV000435793]\|Gastric adenocarcinoma [RCV000429499]\|Malignant neoplasm of body of uterus [RCV000424484]\|Transitional cell carcinoma of the bladder [RCV000435185]\|Uterine carcinosarcoma [RCV000418815]	likely pathogenic	12	56088557	56088557	Human	3	name
12834413	CV363289	single nucleotide variant	NM_001982.4(ERBB3):c.310G>A (p.Val104Met)	Malignant tumor of urinary bladder [RCV003332171]	pathogenic\|likely pathogenic	12	56085070	56085070	Human	2	name
12835246	CV363290	single nucleotide variant	NM_001982.4(ERBB3):c.310G>T (p.Val104Leu)	Breast neoplasm [RCV000425620]\|Gallbladder carcinoma [RCV000432050]\|Gastric adenocarcinoma [RCV000443475]\|Malignant neoplasm of body of uterus [RCV000443618]\|Neoplasm of the large intestine [RCV000424621]\|Neoplasm of uterine cervix [RCV000443705]\|Transitional cell carcinoma of the bladder [RCV000421 ... (more) 354]\|Uterine carcinosarcoma [RCV000436217]	likely pathogenic	12	56085070	56085070	Human	4	name
597804165	CV3671438	single nucleotide variant	NM_001982.4(ERBB3):c.713C>T (p.Pro238Leu)	not specified [RCV004907557]	uncertain significance	12	56087894	56087894	Human		name
15119532	CV738752	single nucleotide variant	NM_001982.4(ERBB3):c.3471C>T (p.Asn1157=)	not provided [RCV000895743]	likely benign	12	56101330	56101330	Human		name
15149748	CV753509	single nucleotide variant	NM_001982.4(ERBB3):c.3369C>T (p.Ser1123=)	not provided [RCV000923345]	likely benign	12	56101228	56101228	Human		name
126726599	CV1017657	deletion	NM_001982.4(ERBB3):c.3944del (p.Ser1315fs)	Lethal congenital contracture syndrome 2 [RCV001332068]	pathogenic	12	56101970	56101970	Human		name
126742072	CV1021083	single nucleotide variant	NM_001982.4(ERBB3):c.1530G>A (p.Trp510Ter)	Lethal congenital contracture syndrome 2 [RCV001336414]	pathogenic	12	56093813	56093813	Human		name
127288672	CV1152506	single nucleotide variant	NM_001982.4(ERBB3):c.2107A>C (p.Ile703Leu)	not provided [RCV001508692]\|not specified [RCV004037895]	uncertain significance	12	56096554	56096554	Human		name
127288675	CV1152507	single nucleotide variant	NM_001982.4(ERBB3):c.2993A>G (p.Lys998Arg)	Erythroleukemia, familial, susceptibility to [RCV005400504]\|not provided [RCV001508693]	uncertain significance	12	56099893	56099893	Human	3	name
150404446	CV1178815	deletion	NM_001982.4(ERBB3):c.3297del (p.His1100fs)	Visceral neuropathy, familial, 1, autosomal recessive [RCV001799810]	pathogenic	12	56101153	56101153	Human	1	name
150404448	CV1178816	single nucleotide variant	NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro)	Visceral neuropathy, familial, 1, autosomal recessive [RCV001799811]	pathogenic\|likely pathogenic	12	56097129	56097129	Human	1	name
150404449	CV1178817	single nucleotide variant	NM_001982.4(ERBB3):c.2695G>A (p.Val899Met)	Visceral neuropathy, familial, 1, autosomal recessive [RCV001799812]	pathogenic\|likely pathogenic	12	56098761	56098761	Human	1	name
9686905	CV171524	single nucleotide variant	NM_001982.4(ERBB3):c.2802G>C (p.Gln934His)	Prostate cancer [RCV000149124]	uncertain significance	12	56098868	56098868	Human	2	name
156028234	CV2049029	single nucleotide variant	NM_001982.4(ERBB3):c.2615A>T (p.Lys872Met)	Lethal congenital contracture syndrome 2 [RCV002795930]	uncertain significance	12	56097939	56097939	Human	1	name
156400603	CV2199293	single nucleotide variant	NM_001982.4(ERBB3):c.1390T>C (p.Tyr464His)	not specified [RCV004082643]	uncertain significance	12	56093460	56093460	Human		name
156078000	CV2230328	single nucleotide variant	NM_001982.4(ERBB3):c.1099G>A (p.Gly367Ser)	not specified [RCV004099934]	uncertain significance	12	56088858	56088858	Human		name
156018936	CV2233307	single nucleotide variant	NM_001982.4(ERBB3):c.1468C>T (p.Arg490Cys)	not specified [RCV004105687]	uncertain significance	12	56093538	56093538	Human		name
156141467	CV2280910	single nucleotide variant	NM_001982.4(ERBB3):c.1574G>C (p.Arg525Pro)	not specified [RCV004145155]	uncertain significance	12	56093857	56093857	Human		name
155930557	CV2296966	single nucleotide variant	NM_001982.4(ERBB3):c.1703C>G (p.Ser568Trp)	not specified [RCV004150898]	uncertain significance	12	56094188	56094188	Human		name
156151316	CV2307547	single nucleotide variant	NM_001982.4(ERBB3):c.1181C>A (p.Thr394Lys)	not specified [RCV004166187]	uncertain significance	12	56092818	56092818	Human		name
156187796	CV2346756	single nucleotide variant	NM_001982.4(ERBB3):c.2212C>G (p.Pro738Ala)	not specified [RCV004199769]	uncertain significance	12	56096784	56096784	Human		name
156148315	CV2377317	single nucleotide variant	NM_001982.4(ERBB3):c.2920C>T (p.Arg974Trp)	not specified [RCV004225500]	uncertain significance	12	56099728	56099728	Human		name
329362300	CV2444576	single nucleotide variant	NM_001982.4(ERBB3):c.1466C>T (p.Pro489Leu)	not specified [RCV004256799]	uncertain significance	12	56093536	56093536	Human		name
329358831	CV2450730	single nucleotide variant	NM_001982.4(ERBB3):c.2050G>A (p.Gly684Ser)	not specified [RCV004267670]	uncertain significance	12	56095801	56095801	Human		name
401773891	CV2691443	single nucleotide variant	NM_001982.4(ERBB3):c.1219C>T (p.His407Tyr)	not specified [RCV004305298]	likely benign	12	56093021	56093021	Human		name
401728946	CV2693936	single nucleotide variant	NM_001982.4(ERBB3):c.1543G>A (p.Gly515Ser)	not specified [RCV004300232]	uncertain significance	12	56093826	56093826	Human		name
401873784	CV2749820	single nucleotide variant	NM_001982.4(ERBB3):c.2782G>A (p.Glu928Lys)	Malignant tumor of urinary bladder [RCV003332948]	pathogenic	12	56098848	56098848	Human	2	name
401903000	CV2797759	single nucleotide variant	NM_001982.4(ERBB3):c.1117T>C (p.Trp373Arg)	ERBB3-related disorder [RCV003419214]	uncertain significance	12	56092754	56092754	Human		name , trait , alternate_id
401933525	CV2800357	single nucleotide variant	NM_001982.4(ERBB3):c.1330C>T (p.Arg444Ter)	ERBB3-related disorder [RCV003410370]	likely pathogenic	12	56093400	56093400	Human		name , trait , alternate_id
401961906	CV2844229	single nucleotide variant	NM_001982.4(ERBB3):c.1663G>C (p.Glu555Gln)	not provided [RCV003482071]	uncertain significance	12	56094148	56094148	Human		name
405260165	CV3190212	single nucleotide variant	NM_001982.4(ERBB3):c.1677G>A (p.Met559Ile)	ERBB3-related disorder [RCV003894613]	uncertain significance	12	56094162	56094162	Human		name , trait , alternate_id
405287811	CV3208056	single nucleotide variant	NM_001982.4(ERBB3):c.2383C>G (p.Leu795Val)	ERBB3-related disorder [RCV003924564]	benign	12	56097153	56097153	Human		name , trait , alternate_id
405261871	CV3219933	single nucleotide variant	NM_001982.4(ERBB3):c.1424G>A (p.Arg475Gln)	ERBB3-related disorder [RCV003967099]	likely benign	12	56093494	56093494	Human		name , trait , alternate_id
405740354	CV3259344	single nucleotide variant	NM_001982.4(ERBB3):c.1454A>G (p.Lys485Arg)	not specified [RCV004380482]	uncertain significance	12	56093524	56093524	Human		name
405740368	CV3259346	single nucleotide variant	NM_001982.4(ERBB3):c.2225A>G (p.Lys742Arg)	not specified [RCV004380484]	uncertain significance	12	56096797	56096797	Human		name
407479616	CV3441942	single nucleotide variant	NM_001982.4(ERBB3):c.2408G>A (p.Arg803Gln)	not specified [RCV004617818]	uncertain significance	12	56097178	56097178	Human		name
407479620	CV3441943	single nucleotide variant	NM_001982.4(ERBB3):c.2407C>T (p.Arg803Trp)	not specified [RCV004617819]	uncertain significance	12	56097177	56097177	Human		name
407479631	CV3441946	single nucleotide variant	NM_001982.4(ERBB3):c.2473C>G (p.Leu825Val)	not specified [RCV004617822]	uncertain significance	12	56097797	56097797	Human		name
407479637	CV3441948	single nucleotide variant	NM_001982.4(ERBB3):c.2502C>A (p.Asn834Lys)	not specified [RCV004617824]	uncertain significance	12	56097826	56097826	Human		name
408371440	CV3503752	single nucleotide variant	NM_001982.4(ERBB3):c.2795A>C (p.Gln932Pro)	ERBB3-related disorder [RCV004724623]	uncertain significance	12	56098861	56098861	Human		name , trait , alternate_id
408382531	CV3504557	single nucleotide variant	NM_001982.4(ERBB3):c.1293G>T (p.Leu431Phe)	ERBB3-related disorder [RCV004729847]	uncertain significance	12	56093363	56093363	Human		name , trait , alternate_id
408375350	CV3511285	single nucleotide variant	NM_001982.4(ERBB3):c.2737G>A (p.Ala913Thr)	ERBB3-related disorder [RCV004747976]	uncertain significance	12	56098803	56098803	Human		name , trait , alternate_id
408385565	CV3528570	single nucleotide variant	NM_001982.4(ERBB3):c.1113C>G (p.Asp371Glu)	not provided [RCV004772403]	uncertain significance	12	56092750	56092750	Human		name
596925198	CV3541803	single nucleotide variant	NM_001982.4(ERBB3):c.2786G>A (p.Arg929Gln)	Visceral neuropathy, familial, 1, autosomal recessive [RCV004795514]	uncertain significance	12	56098852	56098852	Human	1	name
12843076	CV363070	single nucleotide variant	NM_001982.4(ERBB3):c.2426A>G (p.Gln809Arg)	Neoplasm [RCV000435577]	likely pathogenic	12	56097196	56097196	Human	1	name
597726291	CV3710530	deletion	NM_001982.4(ERBB3):c.3223del (p.Ser1075fs)	Erythroleukemia, familial, susceptibility to [RCV005011429]	likely pathogenic	12	56101082	56101082	Human	3	name
14695794	CV622415	single nucleotide variant	NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn)	Lethal congenital contracture syndrome 2 [RCV000784951]\|not specified [RCV004027333]	uncertain significance	12	56096813	56096813	Human	1	name
15128623	CV738750	single nucleotide variant	NM_001982.4(ERBB3):c.1154A>G (p.Asn385Ser)	not provided [RCV000897307]	benign	12	56092791	56092791	Human		name
8634791	CV90011	single nucleotide variant	NM_001982.3(ERBB3):c.1639G>A (p.Ala547Thr)	Malignant melanoma [RCV000070108]	not provided	12	56094124	56094124	Human		name
40814310	CV966797	single nucleotide variant	NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr)	Lethal congenital contracture syndrome 2 [RCV001257435]	likely pathogenic	12	56093055	56093055	Human	1	name
127288678	CV1152508	single nucleotide variant	NM_001982.4(ERBB3):c.3757G>A (p.Gly1253Ser)	not provided [RCV001508694]	uncertain significance	12	56101783	56101783	Human		name
150340402	CV1168270	single nucleotide variant	NM_001982.4(ERBB3):c.3355A>T (p.Ser1119Cys)	not provided [RCV001535328]	benign	12	56101214	56101214	Human		name
155926706	CV2284957	single nucleotide variant	NM_001982.4(ERBB3):c.3344G>T (p.Cys1115Phe)	not specified [RCV004143399]	uncertain significance	12	56101203	56101203	Human		name
156386895	CV2364880	single nucleotide variant	NM_001982.4(ERBB3):c.3760A>G (p.Thr1254Ala)	not specified [RCV004221785]	uncertain significance	12	56101786	56101786	Human		name
243058732	CV2409931	single nucleotide variant	NM_001982.4(ERBB3):c.3674T>C (p.Met1225Thr)	not provided [RCV003147105]	uncertain significance	12	56101700	56101700	Human		name
243058740	CV2409933	single nucleotide variant	NM_001982.4(ERBB3):c.3679G>A (p.Val1227Met)	not provided [RCV003147107]	uncertain significance	12	56101705	56101705	Human		name
11531405	CV247643	single nucleotide variant	NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)	Erythroleukemia, familial, susceptibility to [RCV000239667]\|not specified [RCV003323478]	likely pathogenic\|uncertain significance	12	56102035	56102035	Human	1	name
401870136	CV2772628	single nucleotide variant	NM_001982.4(ERBB3):c.3328G>A (p.Glu1110Lys)	not specified [RCV004355376]	uncertain significance	12	56101187	56101187	Human		name
401896288	CV2773831	single nucleotide variant	NM_001982.4(ERBB3):c.3727C>A (p.Leu1243Ile)	not specified [RCV004358277]	uncertain significance	12	56101753	56101753	Human		name
401961907	CV2844230	single nucleotide variant	NM_001982.4(ERBB3):c.3466G>A (p.Val1156Ile)	not provided [RCV003482072]	uncertain significance	12	56101325	56101325	Human		name
401961908	CV2844231	single nucleotide variant	NM_001982.4(ERBB3):c.3557T>C (p.Leu1186Pro)	not provided [RCV003482073]	uncertain significance	12	56101583	56101583	Human		name
404990787	CV2850065	single nucleotide variant	NM_001982.4(ERBB3):c.3799C>T (p.Arg1267Ter)	not provided [RCV003490748]	uncertain significance	12	56101825	56101825	Human		name
405284415	CV3213717	single nucleotide variant	NM_001982.4(ERBB3):c.3007G>A (p.Val1003Ile)	ERBB3-related disorder [RCV003922275]	uncertain significance	12	56099907	56099907	Human		name , trait , alternate_id
405740377	CV3259347	single nucleotide variant	NM_001982.4(ERBB3):c.3821G>C (p.Gly1274Ala)	not specified [RCV004380485]	uncertain significance	12	56101847	56101847	Human		name
405740385	CV3259348	single nucleotide variant	NM_001982.4(ERBB3):c.3904G>T (p.Ala1302Ser)	not specified [RCV004380486]	uncertain significance	12	56101930	56101930	Human		name
405740391	CV3259349	single nucleotide variant	NM_001982.4(ERBB3):c.3941G>A (p.Arg1314His)	not specified [RCV004380487]	uncertain significance	12	56101967	56101967	Human		name
407479623	CV3441944	single nucleotide variant	NM_001982.4(ERBB3):c.3896G>A (p.Gly1299Glu)	not specified [RCV004617820]	uncertain significance	12	56101922	56101922	Human		name
407479634	CV3441947	single nucleotide variant	NM_001982.4(ERBB3):c.3635C>T (p.Pro1212Leu)	not specified [RCV004617823]	uncertain significance	12	56101661	56101661	Human		name
597804167	CV3671439	single nucleotide variant	NM_001982.4(ERBB3):c.3925C>G (p.Arg1309Gly)	not specified [RCV004907558]	uncertain significance	12	56101951	56101951	Human		name
597804171	CV3671442	single nucleotide variant	NM_001982.4(ERBB3):c.3334G>A (p.Val1112Met)	not specified [RCV004907560]	uncertain significance	12	56101193	56101193	Human		name
597855099	CV3762642	single nucleotide variant	NM_001982.4(ERBB3):c.3518G>C (p.Arg1173Pro)	not specified [RCV005088560]	uncertain significance	12	56101544	56101544	Human		name
598170023	CV3961651	single nucleotide variant	NM_001982.4(ERBB3):c.3236C>T (p.Pro1079Leu)	not specified [RCV005330607]	uncertain significance	12	56101095	56101095	Human		name
15177691	CV713638	single nucleotide variant	NM_001982.4(ERBB3):c.3391G>A (p.Ala1131Thr)	ERBB3-related disorder [RCV004746185]\|not provided [RCV000973490]	benign\|likely benign	12	56101250	56101250	Human		name , trait , alternate_id
15180549	CV725196	single nucleotide variant	NM_001982.4(ERBB3):c.3289T>C (p.Ser1097Pro)	ERBB3-related disorder [RCV003948366]\|not provided [RCV000885555]	likely benign	12	56101148	56101148	Human		name , trait , alternate_id
15180933	CV725197	single nucleotide variant	NM_001982.4(ERBB3):c.3380G>A (p.Arg1127His)	ERBB3-related disorder [RCV003940530]\|not provided [RCV000885647]	benign\|likely benign	12	56101239	56101239	Human		name , trait , alternate_id
15190577	CV725198	single nucleotide variant	NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile)	not provided [RCV000888138]	likely benign\|conflicting interpretations of pathogenicity	12	56101555	56101555	Human		name
15128628	CV738753	single nucleotide variant	NM_001982.4(ERBB3):c.3811G>A (p.Gly1271Ser)	not provided [RCV000897308]	benign	12	56101837	56101837	Human		name
21072265	CV788869	single nucleotide variant	NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)	Lethal congenital contracture syndrome 2 [RCV000985171]\|Visceral neuropathy, familial, 1, autosomal recessive [RCV003989124]\|not provided [RCV003145245]	likely pathogenic\|uncertain significance	12	56101284	56101284	Human	2	name
21074287	CV796804	single nucleotide variant	NM_001982.4(ERBB3):c.3229C>T (p.Arg1077Trp)	not provided [RCV000994934]	uncertain significance	12	56101088	56101088	Human		name
8627335	CV82479	single nucleotide variant	NM_001982.3(ERBB3):c.3145A>G (p.Ser1049Gly)	Malignant melanoma [RCV000062558]	not provided	12	56100189	56100189	Human		name
8634792	CV90012	single nucleotide variant	NM_001982.4(ERBB3):c.3789G>A (p.Met1263Ile)	not provided [RCV001508695]	uncertain significance\|not provided	12	56101815	56101815	Human		name
401926067	CV2803249	deletion	NM_001982.4(ERBB3):c.1881_1891del (p.Asp628fs)	ERBB3-related disorder [RCV003405841]	likely pathogenic	12	56095278	56095288	Human		name , trait , alternate_id
13528935	CV513613	microsatellite	NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del)	Lethal congenital contracture syndrome 1 [RCV000626162]	uncertain significance	12	56101591	56101593	Human		name
126742076	CV1021084	duplication	NM_001982.4(ERBB3):c.4027dup (p.Ter1343LeuextTer?)	Lethal congenital contracture syndrome 2 [RCV001336415]	pathogenic	12	56102052	56102053	Human		name
405259673	CV3195161	microsatellite	NM_001982.4(ERBB3):c.3025CTAGAC[4] (p.Leu1015_Glu1016insAspLeu)	ERBB3-related disorder [RCV003894358]	uncertain significance	12	56099924	56099925	Human		name , trait , alternate_id
243058734	CV2409932	indel	NM_001982.4(ERBB3):c.1540_1543delinsATCA (p.Pro514_Gly515delinsIleSer)	not provided [RCV003147106]	uncertain significance	12	56093823	56093826	Human		name

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