ClinVar for Gene (Select 54822) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381283	NM_017672.6(TRPM7):c.5321del (p.Asn1774fs)	TRPM7 (N1773fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3374828	NM_017672.6(TRPM7):c.4568A>G (p.Gln1523Arg)	TRPM7 (Q1522R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3371784	NM_017672.6(TRPM7):c.875G>T (p.Gly292Val)	TRPM7 (G292V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371478	NM_017672.6(TRPM7):c.3229C>T (p.Gln1077Ter)	TRPM7 (Q1077*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3370867	NM_017672.6(TRPM7):c.2144A>G (p.Asn715Ser)	TRPM7 (N715S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370049	NM_017672.6(TRPM7):c.2440G>T (p.Val814Leu)	TRPM7 (V814L)	Single nucleotide variant (missense variant +1 more)	not provided	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 3366375	NM_017672.6(TRPM7):c.1636-13A>G	TRPM7	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3363542	NM_017672.6(TRPM7):c.376A>G (p.Lys126Glu)	TRPM7 (K126E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339347	NM_017672.6(TRPM7):c.1953A>T (p.Lys651Asn)	TRPM7 (K651N)	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 3329308	NM_017672.6(TRPM7):c.940G>T (p.Val314Leu)	TRPM7 (V314L)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 3329302	NM_017672.6(TRPM7):c.11A>G (p.Lys4Arg)	LOC128092252, TRPM7 (K4R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3329301	NM_017672.6(TRPM7):c.1906G>T (p.Val636Phe)	TRPM7 (V636F)	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 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 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 3329297	NM_017672.6(TRPM7):c.2071G>A (p.Val691Ile)	TRPM7 (V691I)	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 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 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	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 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 3183426	NM_017672.6(TRPM7):c.921C>G (p.Ser307Arg)	TRPM7 (S307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183425	NM_017672.6(TRPM7):c.904G>A (p.Glu302Lys)	TRPM7 (E302K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3183407	NM_017672.6(TRPM7):c.136C>T (p.Arg46Cys)	LOC128092252, TRPM7 (R46C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183406	NM_017672.6(TRPM7):c.1097A>G (p.Gln366Arg)	TRPM7 (Q366R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065375	NM_017672.6(TRPM7):c.1729C>T (p.His577Tyr)	TRPM7 (H577Y)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 3063767	NM_017672.6(TRPM7):c.1504C>A (p.Pro502Thr)	TRPM7 (P502T)	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 3056472	NM_017672.6(TRPM7):c.4926G>A (p.Gly1642=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
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 3050165	NM_017672.6(TRPM7):c.1635+4T>C	TRPM7	Single nucleotide variant (intron variant)	TRPM7-related disorder	GBenign
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 3038023	NM_017672.6(TRPM7):c.5268C>T (p.Tyr1756=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	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 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 3031483	NM_017672.6(TRPM7):c.84-3_84-2dup	LOC128092252, TRPM7	Duplication (splice acceptor variant)	TRPM7-related disorder	GLikely benign
Select item 3025313	NM_017672.6(TRPM7):c.5360+4A>G	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
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 2685516	GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1	AP4E1, GABPB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684758	GRCh37/hg19 15q21.2(chr15:50749119-51455096)x3	AP4E1, SPPL2A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684757	GRCh37/hg19 15q21.2(chr15:50595262-51210478)x3	AP4E1, GABPB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
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 2664953	NM_017672.6(TRPM7):c.2999T>C (p.Met1000Thr)	TRPM7 (M1000T)	Single nucleotide variant (missense variant +1 more)	See cases	GPathogenic
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 2645333	NM_001414947.1(LOC128092252):c.147G>A (p.Val49=)	LOC128092252, TRPM7	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2645332	NM_017672.6(TRPM7):c.223A>G (p.Ile75Val)	TRPM7 (I75V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2645331	NM_017672.6(TRPM7):c.660+21T>G	TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2645330	NM_017672.6(TRPM7):c.1448G>A (p.Gly483Asp)	TRPM7 (G483D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2645329	NM_017672.6(TRPM7):c.5309-5T>C	TRPM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2621548	NM_017672.6(TRPM7):c.1126G>A (p.Glu376Lys)	TRPM7 (E376K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620056	NM_017672.6(TRPM7):c.662T>G (p.Val221Gly)	TRPM7 (V221G)	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 2593013	NM_017672.6(TRPM7):c.1652C>T (p.Thr551Ile)	TRPM7 (T551I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	AP4E1, ATP8B4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2577126	NM_017672.6(TRPM7):c.1609T>C (p.Tyr537His)	TRPM7 (Y537H)	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 2573589	NM_017672.6(TRPM7):c.4557+18A>G	TRPM7	Single nucleotide variant (intron variant)	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 2569574	NM_017672.6(TRPM7):c.223A>T (p.Ile75Leu)	TRPM7 (I75L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569573	NM_017672.6(TRPM7):c.220G>A (p.Ala74Thr)	TRPM7 (A74T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 2538449	NM_017672.6(TRPM7):c.862C>G (p.Leu288Val)	TRPM7 (L288V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517028	NM_017672.6(TRPM7):c.221C>T (p.Ala74Val)	TRPM7 (A74V)	Single nucleotide variant (missense variant +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 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 2495637	NM_017672.6(TRPM7):c.349C>T (p.Pro117Ser)	TRPM7 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490997	NM_017672.6(TRPM7):c.1741A>G (p.Ile581Val)	TRPM7 (I581V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488330	NM_017672.6(TRPM7):c.184T>C (p.Tyr62His)	LOC128092252, TRPM7 (Y62H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2446633	NM_017672.6(TRPM7):c.415G>C (p.Val139Leu)	TRPM7 (V139L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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