Voozh

RET PROTOONCOGENE; RET

Allelic Variants (54 Selected Examples) :

Number 👁 Image	Phenotype 👁 Image	Mutation 👁 Image	SNP	gnomAD	ClinVar
.0001	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS618GLY	rs76262710 Ensembl NCBI UCSC	rs76262710	RCV000014919...
.0002	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, GLU378ASP, LEU379VAL, CYS380ARG	rs267607010 Ensembl NCBI UCSC , rs377767408 Ensembl NCBI UCSC , rs75076352 Ensembl NCBI UCSC	rs267607010, rs75076352	RCV000014937...
.0003	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634GLY	rs75076352 Ensembl NCBI UCSC	rs75076352	RCV000014922...
.0004	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634TYR	rs75996173 Ensembl NCBI UCSC	rs75996173	RCV000014924...
.0005	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634SER	rs75996173 Ensembl NCBI UCSC	rs75996173	RCV000014926...
.0006	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634PHE	rs75996173 Ensembl NCBI UCSC	rs75996173	RCV000014928...
.0007	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS611TRP	rs80069458 Ensembl NCBI UCSC	-	RCV000014932...
.0008	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED	RET, CYS618SER	rs79781594 Ensembl NCBI UCSC	rs79781594	RCV000014933...
.0009	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS620ARG	rs77316810 Ensembl NCBI UCSC	-	RCV000014935...
.0010	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS620TYR	rs77503355 Ensembl NCBI UCSC	-	RCV000014936...
.0011	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634ARG	rs75076352 Ensembl NCBI UCSC	rs75076352	RCV000014937...
.0012	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634TRP	rs77709286 Ensembl NCBI UCSC	rs77709286	RCV000014939...
.0013	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED PHEOCHROMOCYTOMA, SOMATIC, INCLUDED	RET, MET918THR	rs74799832 Ensembl NCBI UCSC	rs74799832	RCV000014941...
.0014	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, 1-BP DEL, G1120	-	-	RCV000014945
.0015	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, SER765PRO	rs75075748 Ensembl NCBI UCSC	-	RCV000014921
.0016	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG897GLN	rs76087194 Ensembl NCBI UCSC	-	RCV000014946
.0017	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG972GLY	rs76534745 Ensembl NCBI UCSC	-	RCV000014947...
.0018	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, SER32LEU	rs76764689 Ensembl NCBI UCSC	-	RCV000014948...
.0019	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, PRO64LEU	rs77596424 Ensembl NCBI UCSC	-	RCV000014949...
.0020	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, GLU136TER	rs79014735 Ensembl NCBI UCSC	rs79014735	RCV000014931
.0021	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG180TER	rs76449634 Ensembl NCBI UCSC	-	RCV000014950...
.0022	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG330GLN	rs80236571 Ensembl NCBI UCSC	-	RCV000014951...
.0023	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, PHE393LEU	rs78098482 Ensembl NCBI UCSC	-	RCV000014952
.0024	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS620PHE	rs77503355 Ensembl NCBI UCSC	-	RCV000014953...
.0025	THYROID CARCINOMA, FAMILIAL MEDULLARY MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, INCLUDED	RET, CYS618ARG	rs76262710 Ensembl NCBI UCSC	rs76262710	RCV000014954...
.0026	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA	RET, 12-BP DUP	rs377767436 Ensembl NCBI UCSC	-	RCV000014955
.0027	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, GLU768ASP	rs78014899 Ensembl NCBI UCSC	rs78014899	RCV000014956...
.0028	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG313GLN	rs77702891 Ensembl NCBI UCSC	rs77702891	RCV000014957...
.0029	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	RET, CYS609TYR	rs77939446 Ensembl NCBI UCSC	rs77939446	RCV000014958...
.0030	MOVED TO 164761.0008	-	-	-	-
.0031	MOVED TO 164761.0009	-	-	-	-
.0032	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	RET, CYS620TRP	rs79890926 Ensembl NCBI UCSC	rs79890926	RCV000014959...
.0033	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED	RET, LEU790PHE	rs75030001 Ensembl NCBI UCSC	rs75030001	RCV000014960...
.0034	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, TYR791PHE	rs77724903 Ensembl NCBI UCSC	rs77724903	RCV000014962...
.0035	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG231HIS	rs79661516 Ensembl NCBI UCSC	-	RCV000014964
.0036	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG982CYS	rs17158558 Ensembl NCBI UCSC	rs17158558	RCV000014965...
.0037	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ILE647ILE, 1941C-T	rs75225191 Ensembl NCBI UCSC	rs75225191	RCV000014966...
.0038	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ALA45ALA	rs1800858 Ensembl NCBI UCSC	rs1800858	RCV000014967...
.0039	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, 9-BP DUP, EX8	rs377767434 Ensembl NCBI UCSC	-	RCV000014968
.0040	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, ALA640GLY	rs78935588 Ensembl NCBI UCSC	-	RCV000014969
.0041	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, CYS620SER	rs77503355 Ensembl NCBI UCSC	-	RCV000014970...
.0042	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, CYS609ARG	rs77558292 Ensembl NCBI UCSC	-	RCV000014971...
.0043	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB	RET, VAL804MET, SER904CYS	rs267607011 Ensembl NCBI UCSC , rs79658334 Ensembl NCBI UCSC	rs79658334	RCV000148773...
.0044	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, VAL804LEU	rs79658334 Ensembl NCBI UCSC	rs79658334	RCV000014973...
.0045	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, ARG114HIS	rs76397662 Ensembl NCBI UCSC	rs76397662	RCV000014974...
.0046	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, PRO1039LEU	rs79853121 Ensembl NCBI UCSC	rs79853121	RCV000014975...
.0047	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, VAL648ILE	rs77711105 Ensembl NCBI UCSC	rs77711105	RCV000014976...
.0048	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, GLY533CYS	rs75873440 Ensembl NCBI UCSC	rs75873440	RCV000014977...
.0049	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED	RET, SER891ALA	rs75234356 Ensembl NCBI UCSC	rs75234356	RCV000014978...
.0050	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, IVS1, C-T, +9.7 KB (rs2435357)	rs2435357 Ensembl NCBI UCSC	rs2435357	RCV000014980...
.0051	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, ARG912PRO	rs78347871 Ensembl NCBI UCSC	rs78347871	RCV000014981...
.0052	HIRSCHSPRUNG DISEASE, PROTECTION AGAINST	RET, 128496T-C	rs3026785 Ensembl NCBI UCSC	rs3026785	RCV000014982...
.0053	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, VAL778ILE	rs75686697 Ensembl NCBI UCSC	rs75686697	RCV000014983...
.0054	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, PRO198THR	rs76736111 Ensembl NCBI UCSC	-	RCV000014984

164761

RET PROTOONCOGENE; RET

Allelic Variants (54 Selected Examples :

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS618GLY	rs76262710	rs76262710	RCV000014919, RCV000228834, RCV000522833, RCV000762807, RCV002408462, RCV002470710, RCV004760333
.0002	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, GLU378ASP, LEU379VAL, CYS380ARG	rs267607010, rs377767408, rs75076352	rs267607010, rs75076352	RCV000014937, RCV000014938, RCV000082051, RCV000163338, RCV000196130, RCV000410079, RCV000411153, RCV000552504, RCV000677899, RCV002478712, RCV002503784, RCV003165476, RCV003460479, RCV004739308, RCV004795411
.0003	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634GLY	rs75076352	rs75076352	RCV000014922, RCV000014923, RCV000182581, RCV000654584, RCV001013616, RCV001310209, RCV001420921
.0004	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634TYR	rs75996173	rs75996173	RCV000014924, RCV000014925, RCV000129490, RCV000182582, RCV000425364, RCV000476408, RCV003989285, RCV004739307, RCV005394154
.0005	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634SER	rs75996173	rs75996173	RCV000014926, RCV000014927, RCV000021824, RCV001262460, RCV002251730, RCV004668731
.0006	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634PHE	rs75996173	rs75996173	RCV000014928, RCV000014929, RCV000014930, RCV000471652, RCV002408463, RCV003237413
.0007	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS611TRP	rs80069458	-	RCV000014932, RCV002513055
.0008	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED	RET, CYS618SER	rs79781594	rs79781594	RCV000014933, RCV000014934, RCV000082050, RCV000161938, RCV001013348
.0009	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS620ARG	rs77316810	-	RCV000014935, RCV000182580, RCV000232285, RCV000568259, RCV000736276, RCV000826204, RCV003324711
.0010	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS620TYR	rs77503355	-	RCV000014936, RCV000021801, RCV000413879, RCV000678747, RCV002408464, RCV005394155
.0011	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634ARG	rs75076352	rs75076352	RCV000014937, RCV000014938, RCV000082051, RCV000163338, RCV000552504, RCV000677899, RCV003460479, RCV004739308, RCV004795411
.0012	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED	RET, CYS634TRP	rs77709286	rs77709286	RCV000014939, RCV000014940, RCV000405235, RCV000459040, RCV001013621
.0013	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED PHEOCHROMOCYTOMA, SOMATIC, INCLUDED	RET, MET918THR	rs74799832	rs74799832	RCV000014941, RCV000014942, RCV000014943, RCV000082054, RCV000161926, RCV000175096, RCV000415312, RCV000417859, RCV001292662, RCV001542764, RCV002255998, RCV004532351, RCV005394156, RCV005865181, RCV005887525
.0014	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, 1-BP DEL, G1120	-	-	RCV000014945
.0015	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, SER765PRO	rs75075748	-	RCV000014921
.0016	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG897GLN	rs76087194	-	RCV000014946
.0017	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG972GLY	rs76534745	-	RCV000014947, RCV005042054
.0018	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, SER32LEU	rs76764689	-	RCV000014948, RCV000678742, RCV002514098
.0019	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, PRO64LEU	rs77596424	-	RCV000014949, RCV003531901
.0020	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, GLU136TER	rs79014735	rs79014735	RCV000014931
.0021	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG180TER	rs76449634	-	RCV000014950, RCV001206325, RCV004528111
.0022	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG330GLN	rs80236571	-	RCV000014951, RCV001379274, RCV004696636, RCV005394157, RCV006277647
.0023	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, PHE393LEU	rs78098482	-	RCV000014952
.0024	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, CYS620PHE	rs77503355	-	RCV000014953, RCV000233944, RCV000411165, RCV000485714, RCV002255999, RCV005394158
.0025	THYROID CARCINOMA, FAMILIAL MEDULLARY MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, INCLUDED	RET, CYS618ARG	rs76262710	rs76262710	RCV000014954, RCV000021792, RCV000114391, RCV000345209, RCV000427260, RCV002256000
.0026	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA	RET, 12-BP DUP	rs377767436	-	RCV000014955
.0027	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, GLU768ASP	rs78014899	rs78014899	RCV000014956, RCV000021842, RCV001015022, RCV001811141, RCV002280861
.0028	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG313GLN	rs77702891	rs77702891	RCV000014957, RCV000566081, RCV000654592, RCV000662693, RCV002476968, RCV003114192
.0029	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	RET, CYS609TYR	rs77939446	rs77939446	RCV000014958, RCV000082049, RCV000168107, RCV000173889, RCV000496009, RCV000509116, RCV000562113, RCV003460480, RCV004532352
.0030	MOVED TO 164761.0008	-	-	-	-
.0031	MOVED TO 164761.0009	-	-	-	-
.0032	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	RET, CYS620TRP	rs79890926	rs79890926	RCV000014959, RCV000021789, RCV000566125, RCV002272020
.0033	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED	RET, LEU790PHE	rs75030001	rs75030001	RCV000014960, RCV000014961, RCV000021849, RCV000182583, RCV002453262
.0034	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, TYR791PHE	rs77724903	rs77724903	RCV000014962, RCV000014963, RCV000034771, RCV000130367, RCV000148769, RCV000235206, RCV000312825, RCV000370653, RCV000400976, RCV000431156, RCV000436831, RCV000754613, RCV001083710, RCV005394159
.0035	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG231HIS	rs79661516	-	RCV000014964
.0036	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ARG982CYS	rs17158558	rs17158558	RCV000014965, RCV000034774, RCV000082055, RCV000162949, RCV000202663, RCV000238890, RCV000320112, RCV000354936, RCV000410308, RCV000411820, RCV000736279, RCV001080524, RCV001269493, RCV001822995, RCV005394160
.0037	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ILE647ILE, 1941C-T	rs75225191	rs75225191	RCV000014966, RCV000220871, RCV000519499, RCV000988344, RCV001085461, RCV005434602
.0038	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, ALA45ALA	rs1800858	rs1800858	RCV000014967, RCV000216697, RCV000712294, RCV001083341
.0039	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, 9-BP DUP, EX8	rs377767434	-	RCV000014968
.0040	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, ALA640GLY	rs78935588	-	RCV000014969
.0041	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, CYS620SER	rs77503355	-	RCV000014970, RCV000021802, RCV000489707, RCV001013426, RCV004018626, RCV004782015
.0042	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, CYS609ARG	rs77558292	-	RCV000014971, RCV000414355, RCV000736274, RCV001013275, RCV001851862, RCV004724742
.0043	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB	RET, VAL804MET, SER904CYS	rs267607011, rs79658334	rs79658334	RCV000148773, RCV000182584, RCV000210181, RCV000499191, RCV000515232, RCV000586783, RCV001804750, RCV001851991, RCV002468975, RCV003153308, RCV003460494, RCV004528141, RCV004795938, RCV005865197, RCV006635423
.0044	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, VAL804LEU	rs79658334	rs79658334	RCV000014973, RCV000021854, RCV000354366, RCV000487450, RCV000561258, RCV000596480, RCV005394161, RCV006445467
.0045	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, ARG114HIS	rs76397662	rs76397662	RCV000014974, RCV000121988, RCV000163885, RCV000198261, RCV000490359, RCV000755684, RCV001106778, RCV001106779, RCV001107412, RCV003389668, RCV004739309
.0046	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, PRO1039LEU	rs79853121	rs79853121	RCV000014975, RCV000148783, RCV000410425, RCV000411688, RCV000563865, RCV000704911, RCV002490367, RCV003398513, RCV005089259
.0047	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	RET, VAL648ILE	rs77711105	rs77711105	RCV000014976, RCV000034767, RCV000163319, RCV000442648, RCV001082776
.0048	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, GLY533CYS	rs75873440	rs75873440	RCV000014977, RCV000182579, RCV000469127, RCV001012358, RCV003335040
.0049	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED	RET, SER891ALA	rs75234356	rs75234356	RCV000014978, RCV000014979, RCV000227193, RCV000394478, RCV000425892, RCV001016276, RCV001804732, RCV002490368, RCV003387503, RCV004566743, RCV004724743
.0050	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	RET, IVS1, C-T, +9.7 KB ({dbSNP rs2435357})	rs2435357	rs2435357	RCV000014980, RCV000611595, RCV000627056, RCV001515285, RCV004717904
.0051	THYROID CARCINOMA, FAMILIAL MEDULLARY	RET, ARG912PRO	rs78347871	rs78347871	RCV000014981, RCV000021883, RCV002433464
.0052	HIRSCHSPRUNG DISEASE, PROTECTION AGAINST	RET, 128496T-C	rs3026785	rs3026785	RCV000014982, RCV000288793, RCV000328614, RCV000350648, RCV000380866, RCV000662849, RCV001723569
.0053	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, VAL778ILE	rs75686697	rs75686697	RCV000014983, RCV000206045, RCV000562190, RCV001105833, RCV001105834, RCV001108067
.0054	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	RET, PRO198THR	rs76736111	-	RCV000014984

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URL: https://omim.org/allelicVariants/164761

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