RETREG1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904492	NM_001034850.3(RETREG1):c.*1653G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352672	NM_001034850.3(RETREG1):c.*1641A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905274	NM_001034850.3(RETREG1):c.*1337A>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905275	NM_001034850.3(RETREG1):c.*1235T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352673	NM_001034850.3(RETREG1):c.*1170A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely benign
Select item 905276	NM_001034850.3(RETREG1):c.*1169G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352674	NM_001034850.3(RETREG1):c.*1160T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905277	NM_001034850.3(RETREG1):c.*1035T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 905278	NM_001034850.3(RETREG1):c.*1026T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely benign
Select item 352675	NM_001034850.3(RETREG1):c.*1012G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GBenign
Select item 352676	NM_001034850.3(RETREG1):c.*913G>T	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352677	NM_001034850.3(RETREG1):c.*853G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906874	NM_001034850.3(RETREG1):c.*757G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352678	NM_001034850.3(RETREG1):c.*592G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 906875	NM_001034850.3(RETREG1):c.*581T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906876	NM_001034850.3(RETREG1):c.*510A>T	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352679	NM_001034850.3(RETREG1):c.*498G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352680	NM_001034850.3(RETREG1):c.*455dup	RETREG1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2	GBenign
Select item 907864	NM_001034850.3(RETREG1):c.*235C>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 907865	NM_001034850.3(RETREG1):c.*219A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352681	NM_001034850.3(RETREG1):c.*206A>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GBenign
Select item 352682	NM_001034850.3(RETREG1):c.*123T>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 1187864	NM_001034850.3(RETREG1):c.70_71dup	RETREG1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 352683	NM_001034850.3(RETREG1):c.*71dup	RETREG1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GBenign
Select item 1199642	NM_001034850.3(RETREG1):c.*71del	RETREG1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 352684	NM_001034850.3(RETREG1):c.*55del	RETREG1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2	GUncertain significance
Select item 581538	NM_001034850.3(RETREG1):c.1490A>G (p.His497Arg)	RETREG1 (H497R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703623	NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2912374	NM_001034850.3(RETREG1):c.1467C>T (p.Phe489=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439686	NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)	RETREG1 (K485del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 1006918	NM_001034850.3(RETREG1):c.1448A>G (p.Asn483Ser)	RETREG1 (N342S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451871	NM_001034850.3(RETREG1):c.1443G>C (p.Gln481His)	RETREG1 (Q481H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354842	NM_001034850.3(RETREG1):c.1434A>G (p.Ala478=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 952300	NM_001034850.3(RETREG1):c.1433C>T (p.Ala478Val)	RETREG1 (A478V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470690	NM_001034850.3(RETREG1):c.1426C>G (p.Gln476Glu)	RETREG1 (Q476E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420156	NM_001034850.3(RETREG1):c.1418C>T (p.Thr473Ile)	RETREG1 (T332I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470689	NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg)	RETREG1 (T473R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GUncertain significance
Select item 538133	NM_001034850.3(RETREG1):c.1415T>C (p.Leu472Pro)	RETREG1 (L472P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 706253	NM_001034850.3(RETREG1):c.1408T>C (p.Leu470=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560295	NM_001034850.3(RETREG1):c.1404T>C (p.Ser468=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 949709	NM_001034850.3(RETREG1):c.1400A>G (p.Glu467Gly)	RETREG1 (E467G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800224	NM_001034850.3(RETREG1):c.1397T>C (p.Ile466Thr)	RETREG1 (I325T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183431	NM_001034850.3(RETREG1):c.1392T>C (p.Asp464=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799729	NM_001034850.3(RETREG1):c.1392T>G (p.Asp464Glu)	RETREG1 (D323E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800226	NM_001034850.3(RETREG1):c.1380G>T (p.Gln460His)	RETREG1 (Q319H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 538127	NM_001034850.3(RETREG1):c.1378C>G (p.Gln460Glu)	RETREG1 (Q460E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972382	NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs)	RETREG1 (E315fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 753585	NM_001034850.3(RETREG1):c.1359T>C (p.Asp453=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044141	NM_001034850.3(RETREG1):c.1351G>A (p.Glu451Lys)	RETREG1 (E310K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037116	NM_001034850.3(RETREG1):c.1346C>G (p.Thr449Ser)	RETREG1 (T308S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335578	NM_001034850.3(RETREG1):c.1340C>T (p.Thr447Ile)	RETREG1 (T306I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800000	NM_001034850.3(RETREG1):c.1335G>T (p.Glu445Asp)	RETREG1 (E304D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843216	NM_001034850.3(RETREG1):c.1321C>T (p.Pro441Ser)	RETREG1 (P441S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2722694	NM_001034850.3(RETREG1):c.1320C>T (p.Ala440=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495765	NM_001034850.3(RETREG1):c.1315G>A (p.Ala439Thr)	RETREG1 (A298T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1498594	NM_001034850.3(RETREG1):c.1311_1312dup (p.Gln438fs)	RETREG1 (Q297fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1443880	NM_001034850.3(RETREG1):c.1303G>A (p.Ala435Thr)	RETREG1 (A435T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 352685	NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu)	RETREG1 (Q434E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 1063759	NM_001034850.3(RETREG1):c.1290G>T (p.Glu430Asp)	RETREG1 (E289D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648833	NM_001034850.3(RETREG1):c.1262T>C (p.Val421Ala)	RETREG1 (V280A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496823	NM_001034850.3(RETREG1):c.1255G>C (p.Ala419Pro)	RETREG1 (A278P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003105	NM_001034850.3(RETREG1):c.1249A>T (p.Ile417Phe)	RETREG1 (I276F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2318659	NM_001034850.3(RETREG1):c.1237G>A (p.Ala413Thr)	RETREG1 (A272T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 507411	NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3343257	NM_001034850.3(RETREG1):c.1229G>A (p.Ser410Asn)	RETREG1 (S269N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411971	NM_001034850.3(RETREG1):c.1228A>T (p.Ser410Cys)	RETREG1 (S269C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1038634	NM_001034850.3(RETREG1):c.1226T>G (p.Met409Arg)	RETREG1 (M409R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373272	NM_001034850.3(RETREG1):c.1226T>C (p.Met409Thr)	RETREG1 (M409T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 538123	NM_001034850.3(RETREG1):c.1219C>T (p.His407Tyr)	RETREG1 (H407Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1531180	NM_001034850.3(RETREG1):c.1218T>C (p.Phe406=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799771	NM_001034850.3(RETREG1):c.1214C>A (p.Thr405Asn)	RETREG1 (T264N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481725	NM_001034850.3(RETREG1):c.1211A>C (p.Gln404Pro)	RETREG1 (Q263P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 538122	NM_001034850.3(RETREG1):c.1207G>A (p.Asp403Asn)	RETREG1 (D403N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962123	NM_001034850.3(RETREG1):c.1187T>C (p.Leu396Pro)	RETREG1 (L255P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287893	NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=)	RETREG1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1145169	NM_001034850.3(RETREG1):c.1173A>G (p.Gln391=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799899	NM_001034850.3(RETREG1):c.1172A>G (p.Gln391Arg)	RETREG1 (Q250R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 937121	NM_001034850.3(RETREG1):c.1171C>T (p.Gln391Ter)	RETREG1 (Q391* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2074008	NM_001034850.3(RETREG1):c.1170G>A (p.Thr390=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571516	NM_001034850.3(RETREG1):c.1170G>T (p.Thr390=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 579199	NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met)	RETREG1 (T390M +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +2 more	GUncertain significance
Select item 3313757	NM_001034850.3(RETREG1):c.1166A>C (p.Glu389Ala)	RETREG1 (E248A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002401	NM_001034850.3(RETREG1):c.1166A>G (p.Glu389Gly)	RETREG1 (E248G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939619	NM_001034850.3(RETREG1):c.1156C>A (p.Pro386Thr)	RETREG1 (P386T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391077	NM_001034850.3(RETREG1):c.1156C>T (p.Pro386Ser)	RETREG1 (P245S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 640018	NM_001034850.3(RETREG1):c.1154G>C (p.Arg385Thr)	RETREG1 (R385T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 705879	NM_001034850.3(RETREG1):c.1153A>C (p.Arg385=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 21256	NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr)	RETREG1 (S382T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1565068	NM_001034850.3(RETREG1):c.1143C>T (p.Asp381=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954565	NM_001034850.3(RETREG1):c.1138T>C (p.Leu380=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 943809	NM_001034850.3(RETREG1):c.1137G>C (p.Gln379His)	RETREG1 (Q238H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21255	NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)	RETREG1 (Q379E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign/Likely benign
Select item 470688	NM_001034850.3(RETREG1):c.1110C>T (p.Pro370=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1800042	NM_001034850.3(RETREG1):c.1107G>T (p.Leu369Phe)	RETREG1 (L228F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372750	NM_001034850.3(RETREG1):c.1091A>T (p.Glu364Val)	RETREG1 (E364V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933522	NM_001034850.3(RETREG1):c.1089T>G (p.Asp363Glu)	RETREG1 (D363E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 352686	NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=)	RETREG1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1538496	NM_001034850.3(RETREG1):c.1077A>G (p.Thr359=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3313756	NM_001034850.3(RETREG1):c.1076C>A (p.Thr359Lys)	RETREG1 (T359K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 999417	NM_001034850.3(RETREG1):c.1073G>T (p.Gly358Val)	RETREG1 (G217V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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