TRPM7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 1281710	NM_017672.6(TRPM7):c.*304T>C	TRPM7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2391607	NM_017672.6(TRPM7):c.5585G>A (p.Arg1862His)	TRPM7 (R1861H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329300	NM_017672.6(TRPM7):c.5533A>G (p.Asn1845Asp)	TRPM7 (N1844D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409374	NM_017672.6(TRPM7):c.5515G>A (p.Asp1839Asn)	TRPM7 (D1839N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2662340	NM_017672.6(TRPM7):c.5456T>C (p.Leu1819Pro)	TRPM7 (L1818P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3329305	NM_017672.6(TRPM7):c.5407A>G (p.Ile1803Val)	TRPM7 (I1802V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025313	NM_017672.6(TRPM7):c.5360+4A>G	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2645329	NM_017672.6(TRPM7):c.5309-5T>C	TRPM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3038023	NM_017672.6(TRPM7):c.5268C>T (p.Tyr1756=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
Select item 3329295	NM_017672.6(TRPM7):c.5221A>G (p.Thr1741Ala)	TRPM7 (T1741A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063745	NM_017672.6(TRPM7):c.5156T>C (p.Val1719Ala)	TRPM7 (V1718A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3239392	NM_017672.6(TRPM7):c.5135C>T (p.Ser1712Leu)	TRPM7 (S1711L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 755802	NM_017672.6(TRPM7):c.5124G>A (p.Leu1708=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1256704	NM_017672.6(TRPM7):c.4986C>T (p.Tyr1662=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3037491	NM_017672.6(TRPM7):c.4979G>A (p.Ser1660Asn)	TRPM7 (S1659N +1 more)	Single nucleotide variant (missense variant +1 more)	TRPM7-related disorder	GBenign
Select item 730138	NM_017672.6(TRPM7):c.4941C>A (p.Ile1647=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1683689	NM_017672.6(TRPM7):c.4928A>G (p.His1643Arg)	TRPM7 (H1642R +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 3056472	NM_017672.6(TRPM7):c.4926G>A (p.Gly1642=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
Select item 3183424	NM_017672.6(TRPM7):c.4847A>G (p.Lys1616Arg)	TRPM7 (K1615R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376242	NM_017672.6(TRPM7):c.4778A>G (p.Asn1593Ser)	TRPM7 (N1592S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2499973	NM_017672.6(TRPM7):c.4775C>T (p.Pro1592Leu)	TRPM7 (P1591L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3183423	NM_017672.6(TRPM7):c.4609A>G (p.Thr1537Ala)	TRPM7 (T1537A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049850	NM_017672.6(TRPM7):c.4592T>G (p.Met1531Arg)	TRPM7 (M1530R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393774	NM_017672.6(TRPM7):c.4591A>G (p.Met1531Val)	TRPM7 (M1530V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573589	NM_017672.6(TRPM7):c.4557+18A>G	TRPM7	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3056286	NM_017672.6(TRPM7):c.4500_4502del (p.Ser1500del)	TRPM7 (S1499del +1 more)	Deletion (non-coding transcript variant)	TRPM7-related disorder	GBenign
Select item 1249733	NM_017672.6(TRPM7):c.4486+111C>T	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2339522	NM_017672.6(TRPM7):c.4477T>C (p.Ser1493Pro)	TRPM7 (S1493P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183422	NM_017672.6(TRPM7):c.4469C>T (p.Pro1490Leu)	TRPM7 (P1490L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363098	NM_017672.6(TRPM7):c.4447G>A (p.Asp1483Asn)	TRPM7 (D1483N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4807	NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)	TRPM7 (T1482I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3183421	NM_017672.6(TRPM7):c.4400C>T (p.Thr1467Ile)	TRPM7 (T1467I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429262	NM_017672.6(TRPM7):c.4396A>G (p.Asn1466Asp)	TRPM7 (N1466D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329296	NM_017672.6(TRPM7):c.4376T>C (p.Ile1459Thr)	TRPM7 (I1459T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329299	NM_017672.6(TRPM7):c.4364C>T (p.Thr1455Ile)	TRPM7 (T1455I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183420	NM_017672.6(TRPM7):c.4334A>G (p.Asp1445Gly)	TRPM7 (D1445G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696347	NM_017672.6(TRPM7):c.4333_4334del (p.Arg1444_Asp1445insTer)	TRPM7	Microsatellite (nonsense +1 more)	not specified	GUncertain significance
Select item 2507129	NM_017672.6(TRPM7):c.4333G>A (p.Asp1445Asn)	TRPM7 (D1445N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2560897	NM_017672.6(TRPM7):c.4329C>A (p.His1443Gln)	TRPM7 (H1443Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612138	NM_017672.6(TRPM7):c.4328A>G (p.His1443Arg)	TRPM7 (H1443R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573720	NM_017672.6(TRPM7):c.4324+5G>A	TRPM7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2558641	NM_017672.6(TRPM7):c.4316C>T (p.Ala1439Val)	TRPM7 (A1439V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266310	NM_017672.6(TRPM7):c.4312G>A (p.Gly1438Arg)	TRPM7 (G1438R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262046	NM_017672.6(TRPM7):c.4301A>G (p.Asn1434Ser)	TRPM7 (N1434S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049123	NM_017672.6(TRPM7):c.4262A>G (p.Asp1421Gly)	TRPM7 (D1421G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3183419	NM_017672.6(TRPM7):c.4225C>T (p.Pro1409Ser)	TRPM7 (P1409S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353651	NM_017672.6(TRPM7):c.4144C>A (p.Gln1382Lys)	TRPM7 (Q1382K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350007	NM_017672.6(TRPM7):c.4134T>G (p.Phe1378Leu)	TRPM7 (F1378L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329298	NM_017672.6(TRPM7):c.4109A>G (p.His1370Arg)	TRPM7 (H1370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336067	NM_017672.6(TRPM7):c.4074T>G (p.Ser1358Arg)	LOC126862130, TRPM7 (S1358R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183418	NM_017672.6(TRPM7):c.4051T>C (p.Ser1351Pro)	LOC126862130, TRPM7 (S1351P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408141	NM_017672.6(TRPM7):c.4043C>G (p.Ala1348Gly)	LOC126862130, TRPM7 (A1348G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736080	NM_017672.6(TRPM7):c.3968A>G (p.Lys1323Arg)	LOC126862130, TRPM7 (K1323R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2474469	NM_017672.6(TRPM7):c.3898T>C (p.Ser1300Pro)	LOC126862130, TRPM7 (S1300P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458569	NM_017672.6(TRPM7):c.3880G>A (p.Val1294Ile)	LOC126862130, TRPM7 (V1294I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3367048	NM_017672.6(TRPM7):c.3868A>C (p.Lys1290Gln)	LOC126862130, TRPM7 (K1290Q)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 3037328	NM_017672.6(TRPM7):c.3846T>G (p.Gly1282=)	LOC126862130, TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
Select item 3183417	NM_017672.6(TRPM7):c.3808A>C (p.Ile1270Leu)	LOC126862130, TRPM7 (I1270L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234682	NM_017672.6(TRPM7):c.3754C>T (p.Gln1252Ter)	LOC126862130, TRPM7 (Q1252*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2244881	NM_017672.6(TRPM7):c.3656A>G (p.Asn1219Ser)	LOC126862130, TRPM7 (N1219S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329306	NM_017672.6(TRPM7):c.3650G>A (p.Arg1217His)	LOC126862130, TRPM7 (R1217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569663	NM_017672.6(TRPM7):c.3593G>A (p.Arg1198His)	TRPM7 (R1198H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329304	NM_017672.6(TRPM7):c.3567T>G (p.Phe1189Leu)	TRPM7 (F1189L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801023	NM_017672.6(TRPM7):c.3542A>G (p.Tyr1181Cys)	TRPM7 (Y1181C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1290109	NM_017672.6(TRPM7):c.3476-30C>A	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291787	NM_017672.6(TRPM7):c.3476-253C>G	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298009	NM_017672.6(TRPM7):c.3475+133G>A	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2260970	NM_017672.6(TRPM7):c.3412A>G (p.Ile1138Val)	TRPM7 (I1138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372312	NM_017672.6(TRPM7):c.3400A>G (p.Ile1134Val)	TRPM7 (I1134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1236149	NM_017672.6(TRPM7):c.3291-162T>G	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222392	NM_017672.6(TRPM7):c.3290+277A>T	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2664954	NM_017672.6(TRPM7):c.3242T>G (p.Leu1081Arg)	TRPM7 (L1081R)	Single nucleotide variant (missense variant +1 more)	See cases	GPathogenic
Select item 1283601	NM_017672.6(TRPM7):c.3174T>C (p.Asn1058=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1261836	NM_017672.6(TRPM7):c.3164-41T>A	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 974783	NM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp)	TRPM7 (G1046D)	Single nucleotide variant (missense variant +1 more)	Intestinal hypomagnesemia 1	GPathogenic
Select item 2429032	NM_017672.6(TRPM7):c.3136G>C (p.Gly1046Arg)	TRPM7 (G1046R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3329307	NM_017672.6(TRPM7):c.3130A>G (p.Ile1044Val)	TRPM7 (I1044V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183416	NM_017672.6(TRPM7):c.3092C>T (p.Thr1031Ile)	TRPM7 (T1031I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664953	NM_017672.6(TRPM7):c.2999T>C (p.Met1000Thr)	TRPM7 (M1000T)	Single nucleotide variant (missense variant +1 more)	See cases	GPathogenic
Select item 3183415	NM_017672.6(TRPM7):c.2996A>G (p.Asn999Ser)	TRPM7 (N999S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548389	NM_017672.6(TRPM7):c.2949T>A (p.Asn983Lys)	TRPM7 (N983K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778493	NM_017672.6(TRPM7):c.2937T>C (p.Phe979=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1050210	NM_017672.6(TRPM7):c.2924G>A (p.Arg975His)	TRPM7 (R975H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2456066	NM_017672.6(TRPM7):c.2875G>T (p.Val959Leu)	TRPM7 (V959L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2719133	NM_017672.6(TRPM7):c.2848G>A (p.Ala950Thr)	TRPM7 (A950T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 713636	NM_017672.6(TRPM7):c.2846T>A (p.Phe949Tyr)	TRPM7 (F949Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3183414	NM_017672.6(TRPM7):c.2745G>T (p.Lys915Asn)	TRPM7 (K915N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049930	NM_017672.6(TRPM7):c.2659T>A (p.Trp887Arg)	TRPM7 (W887R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3183413	NM_017672.6(TRPM7):c.2653C>G (p.Gln885Glu)	TRPM7 (Q885E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3364245	NM_017672.6(TRPM7):c.2604G>C (p.Met868Ile)	TRPM7 (M868I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3183412	NM_017672.6(TRPM7):c.2456G>A (p.Arg819Gln)	TRPM7 (R819Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375302	NM_017672.6(TRPM7):c.2455C>T (p.Arg819Trp)	TRPM7 (R819W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768708	NM_017672.6(TRPM7):c.2437-9del	TRPM7	Deletion (intron variant)	not provided	GBenign
Select item 2370856	NM_017672.6(TRPM7):c.2405A>G (p.Asn802Ser)	TRPM7 (N802S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183411	NM_017672.6(TRPM7):c.2393A>G (p.Asp798Gly)	TRPM7 (D798G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183410	NM_017672.6(TRPM7):c.2387T>C (p.Met796Thr)	TRPM7 (M796T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183409	NM_017672.6(TRPM7):c.2281G>A (p.Val761Ile)	TRPM7 (V761I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183408	NM_017672.6(TRPM7):c.2231C>T (p.Ser744Phe)	TRPM7 (S744F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 425550	NM_017672.6(TRPM7):c.2161T>G (p.Cys721Gly)	TRPM7 (C721G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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