The UMD-MEN1 mutations database
Variations with a biological significance = likely neutral

    Request ID: 121537584890

cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Variation class	Variation type	Validation by	Validation date	# records
c.IVS1-10G>A (c.1-10G>A)	2		p.Met1?	Ju, NM, RP	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 224 04-BE10-H01Y-983 Female 2- Likely Neutral LIKELY NEUTRAL 0 225 04-PA19-C25R-986 Male 2- Likely Neutral LIKELY NEUTRAL 0 1866 04-LA21-M09C-976 Male 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS1-20G>A (c.1-20G>A)	2		p.Met1?	Ju, NM, RP	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1644 02-LA23-M09C-961 Female 2- Likely Neutral LIKELY NEUTRAL 0 1906 03-BE01-G05R-008 Female 2- Likely Neutral LIKELY NEUTRAL 0 1709 02-BL01-B18I-961 Unknown 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS1-22C>A (c.1-22C>A)	2		p.Met1?	Ju, NM, RP	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	10
UMD_id Sample ID Gender Biological significance Variation class Family ID References 219 04-DE22-D09D-953 Male 2- Likely Neutral LIKELY NEUTRAL 0 220 04-DU13-C08R-956 Female 2- Likely Neutral LIKELY NEUTRAL 0 221 04-MA21-H05L-980 Female 2- Likely Neutral LIKELY NEUTRAL W2063 0 222 04-MO18-L21D-982 Male 2- Likely Neutral LIKELY NEUTRAL 0 223 04-PE20-J21L-988 Female 2- Likely Neutral LIKELY NEUTRAL 0 229 04-FA18-J05A-944 Male 2- Likely Neutral LIKELY NEUTRAL 0 1311 01-BL01-C15L-943 Female 2- Likely Neutral LIKELY NEUTRAL 0 1861 04-MA21-N05L-959 Female 2- Likely Neutral LIKELY NEUTRAL W2063 0 1867 04-BO21-P05G-976 Female 2- Likely Neutral LIKELY NEUTRAL 0 1868 04-BO21-H05L-980 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS1-6G>A (c.1-6G>A)	2		p.Met1?	Ju, NM, RP	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 226 04-MA18-J05A-980 Male 2- Likely Neutral LIKELY NEUTRAL 0 1418 01-MA26-L15U-995 Female 2- Likely Neutral LIKELY NEUTRAL w2060 0 1419 01-MA26-O12I-967 Male 2- Likely Neutral LIKELY NEUTRAL w2060 0
c.18C>T	2		p.Ala6Ala	Ju, NM, RP	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1931 04-LA21-J05-981 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.61C>A	2		p.Arg21Ser	Ju, NM, RP	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1858 02-SR09-S21G-981 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS2+73G>C (c.445+73G>C)	2-3			Ju, Sm,NM,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1619 02-GU09-V01L-969 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.525C>T	3		p.Leu175Leu	Ju,Sm,NMH,HD,NM	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1859 03-ISR-ELK-000 Unknown 2- Likely Neutral LIKELY NEUTRAL 0
c.579A>T	3		p.Thr193Thr	Ju,Sm,NMH,HD,NM	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	9/06/22	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1970 04-LE07-L05-018 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.609C>T	3		p.Asn203Asn	Ju,Sm,NMH,HD,NM	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1875 04-PE19-J05A-933 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.618C>A	3		p.Arg206Arg	Ju,Sm,NMH,HD,NM	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	2/06/16	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 56 04-BA21-C08R-979 Female 2- Likely Neutral LIKELY NEUTRAL W2065 0 1873 04-BA21-R21B-011 Female 2- Likely Neutral LIKELY NEUTRAL W2065 0
c.IVS3+41A>G (c.654+41A>G)	3				2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1851 01-MO18-M01R-953 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS3+48C>T (c.654+48C>T)	3			Ju,Sm,NMH,HD,NM	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 74 04-CA20-J21L-990 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS3+82C>T (c.654+82C>T)	3				2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1897 04-GO14-M05L-991 Female 2- Likely Neutral LIKELY NEUTRAL 0 551 03-VA12-C12A-964 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS3-64T>G (c.655-64T>G)	4			Ju,Sm,NM,NMH,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	6
UMD_id Sample ID Gender Biological significance Variation class Family ID References 531 03-CA22-I19A-958 Female 2- Likely Neutral LIKELY NEUTRAL W1109 0 535 03-VE12-J05A-945 Female 2- Likely Neutral LIKELY NEUTRAL W1011 0 541 03-RO04-J05A-943 Male 2- Likely Neutral LIKELY NEUTRAL W1005 0 550 03-CA22-R01P-984 Male 2- Likely Neutral LIKELY NEUTRAL W1109 0 553 03-DO21-C12A-935 Female 2- Likely Neutral LIKELY NEUTRAL 0 1879 04-CO13-S20E-983 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.762G>A	4		p.Leu254Leu	Sm,NM,NMH,FA,HD	2-Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 619 03-ST18-H05L-937 Female 2-Likely Neutral LIKELY NEUTRAL 0
c.IVS4-15Del2 (c.784-15Del2)	5				2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1980 01-DU10-A04-992 Female 2- Likely Neutral LIKELY NEUTRAL W2022-12 0
c.IVS5+27C>T (c.824+27C>T)	5-6			Sm,NM,NMH,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1593 02-KI22-M01R-970 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS5-35INS G (c.825-35INS G)	5-6			Sm,NM,NMH,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 97 04-KL09-A14N-928 Female 2- Likely Neutral LIKELY NEUTRAL W2099 0 98 04-ZI20-M000-947 Male 2- Likely Neutral LIKELY NEUTRAL W2099 0 99 04-ZI20-E22Z-973 Male 2- Likely Neutral LIKELY NEUTRAL W2099 0
c.IVS5-41C>T (c.825-41C>T)	5-6			Sm,NM,NMH,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 694 03-MI04-M01R-945 Female 2- Likely Neutral LIKELY NEUTRAL W1006 0
c.843G>C	6		p.Gly281Gly	Pem,NM,NMH,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 107 04-RO13-X01V-975 Male 2- Likely Neutral LIKELY NEUTRAL 0
c.993C>T	7		p.Asn331Asn	Ju,NF,Pem,NM,RP,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 715 03-GO14-S15L-949 Female 2- Likely Neutral LIKELY NEUTRAL W1076 0 716 03-GO14-A14N-983 Female 2- Likely Neutral LIKELY NEUTRAL W1076 0
c.IVS7+10C>T (c.1049+10C>T)	7-8			Ju,NF,Pem,NM,RP,FA,HD	2- Likely Neutral	2 - Likely Neutral	UV	TENGEN	9/06/22	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1339 01-CH01-J05S-982 Female 2- Likely Neutral UV 0 1973 04-LA13-C08-993 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS7+9C>T (c.1049+9C>T)	7-8			Ju,NF,Pem,NM,RP,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 784 03-GO21-S05V-985 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.1080C>T	8		p.Ile360Ile	Ju,NF,Pem,NM,RP,FA,HD	2-Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 136 04-VI07-V05R-970 Female 2-Likely Neutral LIKELY NEUTRAL 0 806 03-TR01-C01T-963 Female 2-Likely Neutral LIKELY NEUTRAL 0
c.1170G>A	8		p.Pro390Pro	Ju,Pem,NM,RP,FA,HD	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/01/17	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 138 04-AY01-S01R-986 Female 2- Likely Neutral LIKELY NEUTRAL 0 139 04-PE18-P18I-986 Female 2- Likely Neutral LIKELY NEUTRAL 0 1926 04-AY01-S01-986 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS8-89G>A (c.1186-89G>A)	9			Ju,Pem,NM,RP,HD,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 144 04-PO25-F18A-955 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS8-96G>T (c.1186-96G>T)	9			Ju,Pem,NM,RP,HD,CH	2- Likely Neutral	2 - Likely Neutral	UV	TENGEN	1/01/17	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 145 04-GO01-R15M-991 Male 2- Likely Neutral UV 0 1932 04-GO01-R15-991 Male 2- Likely Neutral LIKELY NEUTRAL 0
c.1296G>A	9		p.Leu432Leu	Pem,NM,RP,HD,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1505 02-CO08-R05B-985 Female 2- Likely Neutral LIKELY NEUTRAL 0 1904 04-AY01-S01R-986 Female 2- Likely Neutral LIKELY NEUTRAL 0 1885 04-MO14-M01R-959 Female 2- Likely Neutral LIKELY NEUTRAL 0 1886 04-BO21-S15P-955 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.1296G>C	9		p.Leu432Leu	Pem,NM,RP,HD,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1636 02-GO14-M01N-971 Female 2- Likely Neutral LIKELY NEUTRAL 0 1686 02-MO21-L09L-980 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.IVS9-4C>T (c.1351-4C>T)	10			Pem,NM,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 951 03-HA02-A14D-942 Male 2- Likely Neutral LIKELY NEUTRAL 31
c.1392G>A	10		p.Ala464Ala	Pem,NM,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1227 03-CA03-J05S-985 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.1395C>T	10		p.Ala465Ala	Pem,NM,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1860 04-NI03-F01B-978 Male 2- Likely Neutral LIKELY NEUTRAL 0
c.1522C>A	10		p.Gln508Lys	Sm3,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1456 01-TR01-M15N-937 Female 2- Likely Neutral LIKELY NEUTRAL 0 1577 02-PA19-V01L-966 Female 2- Likely Neutral LIKELY NEUTRAL W2056 0 1578 02-SA14-D05L-970 Female 2- Likely Neutral LIKELY NEUTRAL W2056 0
c.1535C>T	10		p.Ser512Leu	Sm3,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1894 04-PA21-M01M-956 Female 2- Likely Neutral LIKELY NEUTRAL 0 1668 02-WE18-M09C-959 Female 2- Likely Neutral LIKELY NEUTRAL 0
c.1541C>T	10		p.Pro514Leu	Sm3,CH	2-Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1192 03-MA26-A13A-978 Female 2-Likely Neutral LIKELY NEUTRAL W12 0
c.1764G>A	10		p.Lys588Lys	Sm,ASK,CH	2- Likely Neutral	2 - Likely Neutral	LIKELY NEUTRAL	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1950 04-DE20-L09-989 Female 2- Likely Neutral LIKELY NEUTRAL 0