4437[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580961.	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 GRCh37: Chr5:73459011-110145153 GRCh38: Chr5:74163186-110809453	ENC1, ERAP1, ERAP2, F2R, F2RL1, F2RL2, FAM151B, FAM151B-DT, FAM169A, FAM169A-AS1, FAM174A, FAM174A-DT, FAM81B, FBXL17, FER, GCNT4, GFM2, GIN1, GLRX, GPR150, HAPLN1, HEXB, HMGCR, HOMER1, IQGAP2, JMY, KIAA0825, LHFPL2, LINC00491, LINC00492, LINC01023, LINC01157, LINC01331, LINC01333, LINC01335, LINC01337, LINC01338, LINC01339, LINC01340, LINC01455, LINC01554, LINC01846, LINC01848, LINC01949, LINC01950, LINC02059, LINC02060, LINC02113, LINC02115, LINC02144, LINC02234, LINC02488, LIX1, LIX1-AS1, LNPEP, LOC100289230, LOC101929109, LOC101929154, LOC101929380, LOC101929710, LOC102724637, LOC102724720, LOC105379051, LOC105379082, LOC105379109, LOC108175351, LOC110120605, LOC110120636, LOC110120637, LOC110120638, LOC110120640, LOC110120641, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120789, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121101, LOC110121147, LOC110121176, LOC110121194, LOC111556141, LOC111562375, LOC111591505, LOC112997552, LOC113002592, LOC113002593, LOC113002594, LOC113002595, LOC113002596, LOC114004395, LOC116158519, LOC116158520, LOC116158521, LOC121079946, LOC121079947, LOC121079948, LOC121079949, LOC121079950, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121725208, LOC121725209, LOC121725210, LOC121725211, LOC121725212, LOC121725213, LOC123497910, LOC123497911, LOC123497912, LOC123497913, LOC123497914, LOC123497915, LOC123497916, LOC123497917, LOC123497918, LOC123497919, LOC123497920, LOC123497921, LOC123497922, LOC123497923, LOC123497924, LOC123497925, LOC123497926, LOC123497928, LOC123497929, LOC123497930, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC126807422, LOC126807423, LOC126807424, LOC126807425, LOC126807426, LOC126807427, LOC126807428, LOC126807429, LOC126807430, LOC126807431, LOC126807432, LOC126807433, LOC126807434, LOC126807435, LOC126807436, LOC126807437, LOC126807438, LOC126807439, LOC126807440, LOC126807441, LOC126807442, LOC126807443, LOC126807444, LOC126807445, LOC126807446, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389299, LOC129389300, LOC129389301, LOC129389302, LOC129389303, LOC129389304, LOC129389305, LOC129389306, LOC129389307, LOC129389308, LOC129389309, LOC129389310, LOC129389311, LOC129389312, LOC129389313, LOC129389314, LOC129389315, LOC129389316, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129389322, LOC129389323, LOC129389324, LOC129389325, LOC129389326, LOC129389327, LOC129389328, LOC129389329, LOC129389330, LOC129389331, LOC129389332, LOC129389333, LOC129389334, LOC129389335, LOC129389336, LOC129389337, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129994047, LOC129994048, LOC129994049, LOC129994050, LOC129994051, LOC129994052, LOC129994053, LOC129994054, LOC129994055, LOC129994056, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062, LOC129994063, LOC129994064, LOC129994065, LOC129994066, LOC129994067, LOC129994068, LOC129994069, LOC129994070, LOC129994071, LOC129994072, LOC129994073, LOC129994074, LOC129994075, LOC129994076, LOC129994077, LOC129994078, LOC129994079, LOC129994080, LOC129994081, LOC129994082, LOC129994083, LOC129994084, LOC129994085, LOC129994086, LOC129994087, LOC129994088, LOC129994089, LOC129994090, LOC129994091, LOC129994092, LOC129994093, LOC129994094, LOC129994095, LOC129994096, LOC129994097, LOC129994098, LOC129994099, LOC129994100, LOC129994101, LOC129994102, LOC129994103, LOC129994104, LOC129994105, LOC129994106, LOC129994107, LOC129994108, LOC129994109, LOC129994110, LOC129994111, LOC129994112, LOC129994113, LOC129994114, LOC129994115, LOC129994116, LOC129994117, LOC129994118, LOC129994119, LOC129994120, LOC129994121, LOC129994122, LOC129994123, LOC129994124, LOC129994125, LOC129994126, LOC129994127, LOC129994128, LOC129994129, LOC129994130, LOC129994131, LOC129994132, LOC129994133, LOC129994134, LOC129994135, LOC129994136, LOC129994137, LOC129994138, LOC129994139, LOC129994140, LOC129994141, LOC129994142, LOC129994143, LOC129994144, LOC129994145, LOC129994146, LOC129994147, LOC129994148, LOC129994149, LOC129994150, LOC129994151, LOC129994152, LOC129994153, LOC129994154, LOC129994155, LOC129994156, LOC129994157, LOC129994158, LOC129994159, LOC129994160, LOC129994161, LOC129994162, LOC129994163, LOC129994164, LOC129994165, LOC129994166, LOC129994167, LOC129994168, LOC129994169, LOC129994170, LOC129994171, LOC129994172, LOC129994173, LOC129994174, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC129994217, LOC129994218, LOC129994219, LOC129994220, LOC129994221, LOC129994222, LOC129994223, LOC129994224, LOC129994225, LOC129994226, LOC129994227, LOC129994228, LOC129994229, LOC129994230, LOC129994231, LOC129994232, LOC129994233, LOC129994234, LOC129994235, LOC129994236, LOC129994237, LOC129994238, LOC129994239, LOC129994240, LOC129994241, LOC129994242, LOC129994243, LOC129994244, LOC129994245, LOC129994246, LOC129994247, LOC129994248, LOC129994249, LOC129994250, LOC129994251, LOC129994252, LOC129994253, LOC129994254, LOC129994255, LOC129994256, LOC129994257, LOC129994258, LOC129994259, LOC129994260, LOC129994261, LOC129994262, LOC129994263, LOC129994264, LOC129994265, LOC129994266, LOC129994267, LOC129994268, LOC129994269, LOC129994270, LOC129994271, LOC129994272, LOC129994273, LOC129994274, LOC129994275, LOC129994276, LOC129994277, LOC129994278, LOC129994279, LOC129994280, LOC129994281, LOC129994282, LOC129994283, LOC129994284, LOC129994285, LOC129994286, LOC129994287, LOC129994288, LOC129994289, LOC129994290, LOC129994291, LOC129994292, LOC129994293, LOC129994294, LOC129994295, LOC129994296, LOC129994297, LOC129994298, LOC129994299, LOC129994300, ACOT12, ADGRV1, AGGF1, ANKDD1B, ANKRD31, ANKRD34B, AP3B1, ARB2A, ARRDC3, ARRDC3-AS1, ARSB, ARSK, ATG10, ATP6AP1L, BHMT, BHMT2, CAST, CCNH, CERT1, CETN3, CHD1, CHD1-DT, CKMT2, CKMT2-AS1, CMYA5, COX7C, CRE1, CRHBP, DHFR, DMGDH, EDIL3, EDIL3-DT, EFNA5, ELL2, LOC129994301, LOC129994302, LOC129994303, LOC129994304, LOC129994305, LOC129994306, LOC129994307, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC132089159, LOC132089160, LOC132089304, LOC285638, LOC441087, LOC644285, LOC645261, LOC731157, LUCAT1, LYSMD3, MACIR, MAN2A1, MAN2A1-DT, MBLAC2, MCTP1, MEF2C, MEF2C-AS1, MEF2C-AS2, MIR2277, MIR3660, MIR3977, MIR4280, MIR4280HG, MIR548F3, MIR548P, MIR583, MIR9-2, MIR9-2HG, MSH3, MTRNR2L2, MTX3, NCRUPAR, NR2F1, NR2F1-AS1, NSA2, NUDT12, OTP, PAM, PCSK1, PDE8B, PJA2, POC5, POLK, POLR3G, POU5F2, PPIP5K2, RASA1, RASGRF2, RASGRF2-AS1, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, RPS23, S100Z, SCAMP1, SCAMP1-AS1, SCARNA18, SERINC5, SKIC3, SLC25A46, SLCO4C1, SLCO6A1, SLF1, SNORA47, SNORD138, SPATA9, SPZ1, SSBP2, ST8SIA4, SV2C, SV2C-AS1, TBCA, TENT2, THBS4, THBS4-AS1, TMEM161B, TMEM161B-DT, TMEM167A, TMEM232, VCAN, VCAN-AS1, WDR41, XRCC4, ZBED3, ZBED3-AS1, ZCCHC9, ZFYVE16		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 587882.	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1 GRCh37: Chr5:78961491-80493505 GRCh38: Chr5:79665668-81197686	ANKRD34B, CMYA5, DHFR, FAM151B, FAM151B-DT, LINC01337, LINC01455, LOC121079948, LOC121079949, LOC121725208, LOC123497919, LOC123497920, LOC123497921, LOC123497922, LOC123497923, LOC123497924, LOC126807434, LOC126807435, LOC126807436, LOC126807437, LOC129389305, LOC129389306, LOC129389307, LOC129994134, LOC129994135, LOC129994136, LOC129994137, LOC129994138, LOC129994139, LOC129994140, LOC129994141, MSH3, MTRNR2L2, MTX3, RASGRF2, RASGRF2-AS1, SERINC5, SPZ1, TENT2, THBS4, THBS4-AS1, ZFYVE16		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 1575903.	NM_000791.4(DHFR):c.86+59_86+60insACCTGGGCGGGACGCGCCA GRCh37: Chr5:79950163-79950164 GRCh38: Chr5:80654344-80654345	DHFR, MSH3		not provided	Benign (Feb 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12430254.	NM_000791.4(DHFR):c.-82del GRCh37: Chr5:79950390 GRCh38: Chr5:80654571	DHFR, MSH3		not provided	Benign (Aug 31, 2018)	criteria provided, single submitter
Select item 12305865.	NM_000791.4(DHFR):c.-95G>A GRCh37: Chr5:79950403 GRCh38: Chr5:80654584	DHFR, MSH3		not provided	Benign (Jun 22, 2018)	criteria provided, single submitter
Select item 17043416.	NM_000791.4(DHFR):c.-189G>C GRCh37: Chr5:79950497 GRCh38: Chr5:80654678	DHFR, MSH3		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 12594577.	NM_002439.5(MSH3):c.-50C>T GRCh37: Chr5:79950497 GRCh38: Chr5:80654678	DHFR, MSH3		not provided	Benign (Jun 22, 2018)	criteria provided, single submitter
Select item 13260298.	NM_000791.4(DHFR):c.-197G>A GRCh37: Chr5:79950505 GRCh38: Chr5:80654686	DHFR, MSH3		not provided, not specified	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12206849.	NM_002439.5(MSH3):c.-39C>T GRCh37: Chr5:79950508 GRCh38: Chr5:80654689	DHFR, MSH3		not provided	Benign (Jun 22, 2018)	criteria provided, single submitter
Select item 123750810.	NM_002439.5(MSH3):c.-35A>G GRCh37: Chr5:79950512 GRCh38: Chr5:80654693	DHFR, MSH3		not provided	Benign (Jun 22, 2018)	criteria provided, single submitter
Select item 257533711.	NM_000791.4(DHFR):c.-214C>T GRCh37: Chr5:79950522 GRCh38: Chr5:80654703	DHFR, MSH3		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 141139112.	NM_002439.5(MSH3):c.-18_27del (p.Met1_Gly9del) GRCh37: Chr5:79950524-79950568 GRCh38: Chr5:80654705-80654749	DHFR, MSH3		not provided	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 66340813.	NC_000005.9:g.(?_79950537)_(79966138_?)dup GRCh37: Chr5:79950537-79966138 GRCh38: Chr5:80654718-80670319	DHFR, MSH3		not provided	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 64264214.	NC_000005.10:g.(?_80654718)_(80679103_?)del GRCh37: Chr5:79950537-79974922 GRCh38: Chr5:80654718-80679103	DHFR, LOC126807437, LOC129389306, MSH3		not provided	Pathogenic (Mar 27, 2019)	criteria provided, single submitter
Select item 170434315.	NM_000791.4(DHFR):c.-231C>A GRCh37: Chr5:79950539 GRCh38: Chr5:80654720	DHFR, MSH3		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 245103716.	NM_002439.5(MSH3):c.-5C>G GRCh37: Chr5:79950542 GRCh38: Chr5:80654723	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 23, 2022)	criteria provided, single submitter
Select item 175099317.	NM_002439.5(MSH3):c.-5C>T GRCh37: Chr5:79950542 GRCh38: Chr5:80654723	MSH3, DHFR		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 27, 2023)	criteria provided, single submitter
Select item 174471518.	NM_002439.5(MSH3):c.-4T>C GRCh37: Chr5:79950543 GRCh38: Chr5:80654724	MSH3, DHFR		Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 173691319.	NM_002439.5(MSH3):c.-3G>T GRCh37: Chr5:79950544 GRCh38: Chr5:80654725	MSH3, DHFR		Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 179865920.	NM_002439.5(MSH3):c.-2C>T GRCh37: Chr5:79950545 GRCh38: Chr5:80654726	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 5, 2022)	criteria provided, single submitter
Select item 179865021.	NM_002439.5(MSH3):c.-2C>A GRCh37: Chr5:79950545 GRCh38: Chr5:80654726	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 178420222.	NM_002439.5(MSH3):c.-1del GRCh37: Chr5:79950545 GRCh38: Chr5:80654726	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 2, 2021)	criteria provided, single submitter
Select item 258607523.	NM_002439.5(MSH3):c.-1C>T GRCh37: Chr5:79950546 GRCh38: Chr5:80654727	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 23, 2023)	criteria provided, single submitter
Select item 136512624.	NM_002439.5(MSH3):c.1A>C (p.Met1Leu) GRCh37: Chr5:79950547 GRCh38: Chr5:80654728	DHFR, MSH3	M1L	not provided	Uncertain significance (Jul 7, 2021)	criteria provided, single submitter
Select item 66382325.	NM_000791.4(DHFR):c.-239T>A GRCh37: Chr5:79950547 GRCh38: Chr5:80654728	MSH3, DHFR	M1L	Hereditary cancer-predisposing syndrome, not provided, not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65922926.	NM_002439.5(MSH3):c.1A>G (p.Met1Val) GRCh37: Chr5:79950547 GRCh38: Chr5:80654728	DHFR, MSH3	M1V	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66126327.	NM_002439.5(MSH3):c.2T>C (p.Met1Thr) GRCh37: Chr5:79950548 GRCh38: Chr5:80654729	DHFR, MSH3	M1T	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173689928.	NM_002439.5(MSH3):c.3G>A (p.Met1Ile) GRCh37: Chr5:79950549 GRCh38: Chr5:80654730	DHFR, MSH3	M1I	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 2, 2021)	criteria provided, single submitter
Select item 152119029.	NM_002439.5(MSH3):c.3G>C (p.Met1Ile) GRCh37: Chr5:79950549 GRCh38: Chr5:80654730	DHFR, MSH3	M1I	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 146531630.	NM_002439.5(MSH3):c.5C>G (p.Ser2Cys) GRCh37: Chr5:79950551 GRCh38: Chr5:80654732	DHFR, MSH3	S2C	not provided	Uncertain significance (Oct 23, 2021)	criteria provided, single submitter
Select item 86368731.	NM_002439.5(MSH3):c.5C>T (p.Ser2Phe) GRCh37: Chr5:79950551 GRCh38: Chr5:80654732	DHFR, MSH3	S2F	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 176158932.	NM_002439.5(MSH3):c.7C>G (p.Arg3Gly) GRCh37: Chr5:79950553 GRCh38: Chr5:80654734	DHFR, MSH3	R3G	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85438033.	NM_002439.5(MSH3):c.7C>T (p.Arg3Cys) GRCh37: Chr5:79950553 GRCh38: Chr5:80654734	DHFR, MSH3	R3C	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150190334.	NM_002439.5(MSH3):c.8G>C (p.Arg3Pro) GRCh37: Chr5:79950554 GRCh38: Chr5:80654735	DHFR, MSH3	R3P	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 96908735.	NM_002439.5(MSH3):c.8G>A (p.Arg3His) GRCh37: Chr5:79950554 GRCh38: Chr5:80654735	DHFR, MSH3	R3H	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190854136.	NM_002439.5(MSH3):c.9C>T (p.Arg3=) GRCh37: Chr5:79950555 GRCh38: Chr5:80654736	DHFR, MSH3		not provided	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 97006937.	NM_002439.5(MSH3):c.10C>T (p.Arg4Trp) GRCh37: Chr5:79950556 GRCh38: Chr5:80654737	MSH3, DHFR	R4W	not provided	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 85818638.	NM_002439.5(MSH3):c.11G>A (p.Arg4Gln) GRCh37: Chr5:79950557 GRCh38: Chr5:80654738	DHFR, MSH3	R4Q	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 94065539.	NM_002439.5(MSH3):c.14del (p.Lys5fs) GRCh37: Chr5:79950559 GRCh38: Chr5:80654740	DHFR, MSH3	K5fs	not provided, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95212540.	NM_002439.5(MSH3):c.14A>T (p.Lys5Met) GRCh37: Chr5:79950560 GRCh38: Chr5:80654741	DHFR, MSH3	K5M	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Aug 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86432641.	NM_002439.5(MSH3):c.14A>G (p.Lys5Arg) GRCh37: Chr5:79950560 GRCh38: Chr5:80654741	DHFR, MSH3	K5R	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 177615242.	NM_002439.5(MSH3):c.15G>A (p.Lys5=) GRCh37: Chr5:79950561 GRCh38: Chr5:80654742	MSH3, DHFR		Hereditary cancer-predisposing syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 64332143.	NM_002439.5(MSH3):c.15G>T (p.Lys5Asn) GRCh37: Chr5:79950561 GRCh38: Chr5:80654742	DHFR, MSH3	K5N	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147533544.	NM_002439.5(MSH3):c.16C>G (p.Pro6Ala) GRCh37: Chr5:79950562 GRCh38: Chr5:80654743	DHFR, MSH3	P6A	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 65023745.	NM_000791.4(DHFR):c.-254G>A GRCh37: Chr5:79950562 GRCh38: Chr5:80654743	DHFR, MSH3	P6S	MSH3-related condition, not specified, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204096746.	NM_002439.5(MSH3):c.17C>T (p.Pro6Leu) GRCh37: Chr5:79950563 GRCh38: Chr5:80654744	MSH3, DHFR	P6L	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 93848847.	NM_002439.5(MSH3):c.19G>A (p.Ala7Thr) GRCh37: Chr5:79950565 GRCh38: Chr5:80654746	DHFR, MSH3	A7T	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 65066548.	NM_002439.5(MSH3):c.20C>G (p.Ala7Gly) GRCh37: Chr5:79950566 GRCh38: Chr5:80654747	DHFR, MSH3	A7G	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 64298049.	NM_002439.5(MSH3):c.20C>T (p.Ala7Val) GRCh37: Chr5:79950566 GRCh38: Chr5:80654747	DHFR, MSH3	A7V	not provided	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 77819750.	NM_000791.4(DHFR):c.-259C>T GRCh37: Chr5:79950567 GRCh38: Chr5:80654748	DHFR, MSH3		not specified, Hereditary cancer-predisposing syndrome, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84207751.	NM_002439.5(MSH3):c.22T>A (p.Ser8Thr) GRCh37: Chr5:79950568 GRCh38: Chr5:80654749	DHFR, MSH3	S8T	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (May 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64094352.	NM_002439.5(MSH3):c.22T>C (p.Ser8Pro) GRCh37: Chr5:79950568 GRCh38: Chr5:80654749	DHFR, MSH3	S8P	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112699453.	NM_002439.5(MSH3):c.24G>C (p.Ser8=) GRCh37: Chr5:79950570 GRCh38: Chr5:80654751	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided	Likely benign (Dec 19, 2019)	criteria provided, multiple submitters, no conflicts
Select item 75140554.	NM_002439.5(MSH3):c.24G>A (p.Ser8=) GRCh37: Chr5:79950570 GRCh38: Chr5:80654751	DHFR, MSH3		not provided, Hereditary cancer-predisposing syndrome	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217906955.	NM_002439.5(MSH3):c.25G>A (p.Gly9Ser) GRCh37: Chr5:79950571 GRCh38: Chr5:80654752	DHFR, MSH3	G9S	not provided	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 94052256.	NM_000791.4(DHFR):c.-264C>A GRCh37: Chr5:79950572 GRCh38: Chr5:80654753	DHFR, MSH3	G9V	not provided, not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93704357.	NM_002439.5(MSH3):c.26G>C (p.Gly9Ala) GRCh37: Chr5:79950572 GRCh38: Chr5:80654753	MSH3, DHFR	G9A	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64378658.	NM_002439.5(MSH3):c.26G>A (p.Gly9Asp) GRCh37: Chr5:79950572 GRCh38: Chr5:80654753	MSH3, DHFR	G9D	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179616759.	NM_002439.5(MSH3):c.27C>G (p.Gly9=) GRCh37: Chr5:79950573 GRCh38: Chr5:80654754	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 154873860.	NM_002439.5(MSH3):c.27C>T (p.Gly9=) GRCh37: Chr5:79950573 GRCh38: Chr5:80654754	DHFR, MSH3		not provided	Likely benign (Apr 8, 2021)	criteria provided, single submitter
Select item 169267261.	NM_002439.5(MSH3):c.28G>A (p.Gly10Ser) GRCh37: Chr5:79950574 GRCh38: Chr5:80654755	DHFR, MSH3	G10S	Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter
Select item 146910362.	NM_002439.5(MSH3):c.28G>T (p.Gly10Cys) GRCh37: Chr5:79950574 GRCh38: Chr5:80654755	DHFR, MSH3	G10C	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 140736063.	NM_002439.5(MSH3):c.28G>C (p.Gly10Arg) GRCh37: Chr5:79950574 GRCh38: Chr5:80654755	DHFR, MSH3	G10R	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82249964.	NM_002439.5(MSH3):c.29G>C (p.Gly10Ala) GRCh37: Chr5:79950575 GRCh38: Chr5:80654756	DHFR, MSH3	G10A	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 24, 2019)	criteria provided, single submitter
Select item 191531365.	NM_002439.5(MSH3):c.31C>T (p.Leu11Phe) GRCh37: Chr5:79950577 GRCh38: Chr5:80654758	DHFR, MSH3	L11F	not provided	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 64723066.	NM_002439.5(MSH3):c.31C>G (p.Leu11Val) GRCh37: Chr5:79950577 GRCh38: Chr5:80654758	DHFR, MSH3	L11V	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112526467.	NM_002439.5(MSH3):c.33C>T (p.Leu11=) GRCh37: Chr5:79950579 GRCh38: Chr5:80654760	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided	Likely benign (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96595568.	NM_002439.5(MSH3):c.34G>T (p.Ala12Ser) GRCh37: Chr5:79950580 GRCh38: Chr5:80654761	DHFR, MSH3	A12S	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64232569.	NM_002439.5(MSH3):c.34G>A (p.Ala12Thr) GRCh37: Chr5:79950580 GRCh38: Chr5:80654761	DHFR, MSH3	A12T	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 256567370.	NM_002439.5(MSH3):c.35C>G (p.Ala12Gly) GRCh37: Chr5:79950581 GRCh38: Chr5:80654762	DHFR, MSH3	A12G	Hereditary cancer-predisposing syndrome	Uncertain significance (May 15, 2023)	criteria provided, single submitter
Select item 84933171.	NM_002439.5(MSH3):c.35C>T (p.Ala12Val) GRCh37: Chr5:79950581 GRCh38: Chr5:80654762	DHFR, MSH3	A12V	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173408972.	NM_002439.5(MSH3):c.36T>A (p.Ala12=) GRCh37: Chr5:79950582 GRCh38: Chr5:80654763	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Likely benign (Oct 26, 2020)	criteria provided, single submitter
Select item 111817973.	NM_002439.5(MSH3):c.36T>C (p.Ala12=) GRCh37: Chr5:79950582 GRCh38: Chr5:80654763	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided	Likely benign (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173505074.	NM_002439.5(MSH3):c.37G>A (p.Ala13Thr) GRCh37: Chr5:79950583 GRCh38: Chr5:80654764	DHFR, MSH3	A13T	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 102344875.	NM_002439.5(MSH3):c.40_42dup (p.Ser16dup) GRCh37: Chr5:79950583-79950584 GRCh38: Chr5:80654764-80654765	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140936676.	NM_002439.5(MSH3):c.38C>A (p.Ala13Asp) GRCh37: Chr5:79950584 GRCh38: Chr5:80654765	DHFR, MSH3	A13D	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173686277.	NM_002439.5(MSH3):c.39C>T (p.Ala13=) GRCh37: Chr5:79950585 GRCh38: Chr5:80654766	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Likely benign (Mar 18, 2020)	criteria provided, single submitter
Select item 149501878.	NM_002439.5(MSH3):c.41C>T (p.Ser14Phe) GRCh37: Chr5:79950587 GRCh38: Chr5:80654768	DHFR, MSH3	S14F	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 256568779.	NM_002439.5(MSH3):c.42C>T (p.Ser14=) GRCh37: Chr5:79950588 GRCh38: Chr5:80654769	DHFR, MSH3		Hereditary cancer-predisposing syndrome	Likely benign (Jun 9, 2023)	criteria provided, single submitter
Select item 103495480.	NM_002439.5(MSH3):c.43A>G (p.Ser15Gly) GRCh37: Chr5:79950589 GRCh38: Chr5:80654770	DHFR, MSH3	S15G	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 207187581.	NM_002439.5(MSH3):c.44G>C (p.Ser15Thr) GRCh37: Chr5:79950590 GRCh38: Chr5:80654771	MSH3, DHFR	S15T	not provided	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 199758882.	NM_002439.5(MSH3):c.45C>G (p.Ser15Arg) GRCh37: Chr5:79950591 GRCh38: Chr5:80654772	MSH3, DHFR	S15R	not provided	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 111285283.	NM_002439.5(MSH3):c.45C>T (p.Ser15=) GRCh37: Chr5:79950591 GRCh38: Chr5:80654772	DHFR, MSH3		not provided	Likely benign (Jan 11, 2020)	criteria provided, single submitter
Select item 256565184.	NM_002439.5(MSH3):c.46T>A (p.Ser16Thr) GRCh37: Chr5:79950592 GRCh38: Chr5:80654773	DHFR, MSH3	S16T	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 8, 2023)	criteria provided, single submitter
Select item 216277585.	NM_002439.5(MSH3):c.47C>G (p.Ser16Ter) GRCh37: Chr5:79950593 GRCh38: Chr5:80654774	DHFR, MSH3	S16*	Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Aug 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 75982786.	NM_002439.5(MSH3):c.48A>T (p.Ser16=) GRCh37: Chr5:79950594 GRCh38: Chr5:80654775	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94891987.	NM_002439.5(MSH3):c.49G>A (p.Ala17Thr) GRCh37: Chr5:79950595 GRCh38: Chr5:80654776	DHFR, MSH3	A17T	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94709888.	NM_002439.5(MSH3):c.50C>T (p.Ala17Val) GRCh37: Chr5:79950596 GRCh38: Chr5:80654777	DHFR, MSH3	A17V	Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 30, 2023)	criteria provided, conflicting interpretations
Select item 85991189.	NM_002439.5(MSH3):c.50C>G (p.Ala17Gly) GRCh37: Chr5:79950596 GRCh38: Chr5:80654777	DHFR, MSH3	A17G	not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 138735990.	NM_002439.5(MSH3):c.52C>A (p.Pro18Thr) GRCh37: Chr5:79950598 GRCh38: Chr5:80654779	DHFR, MSH3	P18T	not provided	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 102452891.	NM_002439.5(MSH3):c.53C>G (p.Pro18Arg) GRCh37: Chr5:79950599 GRCh38: Chr5:80654780	DHFR, MSH3	P18R	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210515392.	NM_002439.5(MSH3):c.55G>C (p.Ala19Pro) GRCh37: Chr5:79950601 GRCh38: Chr5:80654782	MSH3, DHFR	A19P	not provided	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 93686293.	NM_002439.5(MSH3):c.56C>G (p.Ala19Gly) GRCh37: Chr5:79950602 GRCh38: Chr5:80654783	DHFR, MSH3	A19G	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 174974994.	NM_002439.5(MSH3):c.57del (p.Arg20fs) GRCh37: Chr5:79950603 GRCh38: Chr5:80654784	DHFR, MSH3	R20fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 76090495.	NM_002439.5(MSH3):c.57G>A (p.Ala19=) GRCh37: Chr5:79950603 GRCh38: Chr5:80654784	MSH3, DHFR		not provided, Hereditary cancer-predisposing syndrome	Likely benign (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75774796.	NM_002439.5(MSH3):c.57G>T (p.Ala19=) GRCh37: Chr5:79950603 GRCh38: Chr5:80654784	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided	Likely benign (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175037697.	NM_002439.5(MSH3):c.58A>G (p.Arg20Gly) GRCh37: Chr5:79950604 GRCh38: Chr5:80654785	DHFR, MSH3	R20G	Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 175096998.	NM_002439.5(MSH3):c.59G>T (p.Arg20Met) GRCh37: Chr5:79950605 GRCh38: Chr5:80654786	DHFR, MSH3	R20M	Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 147324899.	NM_002439.5(MSH3):c.59G>C (p.Arg20Thr) GRCh37: Chr5:79950605 GRCh38: Chr5:80654786	DHFR, MSH3	R20T	not provided	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 663065100.	NM_002439.5(MSH3):c.59G>A (p.Arg20Lys) GRCh37: Chr5:79950605 GRCh38: Chr5:80654786	DHFR, MSH3	R20K	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts

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