MTMR3[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 3216185	NM_021090.4(MTMR3):c.145G>A (p.Glu49Lys)	MTMR3 (E49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518174	NM_021090.4(MTMR3):c.170A>G (p.Asn57Ser)	MTMR3 (N57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317448	NM_021090.4(MTMR3):c.205G>C (p.Val69Leu)	MTMR3 (V69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375592	NM_021090.4(MTMR3):c.349G>C (p.Ala117Pro)	MTMR3 (A117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247698	NM_021090.4(MTMR3):c.765G>T (p.Gln255His)	MTMR3 (Q255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216319	NM_021090.4(MTMR3):c.791A>G (p.Asp264Gly)	MTMR3 (D264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273935	NM_021090.4(MTMR3):c.797G>T (p.Arg266Leu)	MTMR3 (R266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216320	NM_021090.4(MTMR3):c.800C>T (p.Ser267Leu)	MTMR3 (S267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299183	NM_021090.4(MTMR3):c.825G>T (p.Arg275Ser)	MTMR3 (R275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347260	NM_021090.4(MTMR3):c.848A>G (p.Asn283Ser)	MTMR3 (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485668	NM_021090.4(MTMR3):c.873G>T (p.Glu291Asp)	MTMR3 (E291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653054	NM_021090.4(MTMR3):c.876C>T (p.Phe292=)	MTMR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589096	NM_021090.4(MTMR3):c.926C>T (p.Pro309Leu)	MTMR3 (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216322	NM_021090.4(MTMR3):c.929A>G (p.Gln310Arg)	MTMR3 (Q310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216188	NM_021090.4(MTMR3):c.1490A>G (p.Asn497Ser)	HORMAD2-AS1, MTMR3 (N497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653055	NM_021090.4(MTMR3):c.1510C>T (p.Leu504=)	HORMAD2-AS1, MTMR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216193	NM_021090.4(MTMR3):c.1622G>A (p.Arg541Gln)	MTMR3, HORMAD2-AS1 (R541Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216202	NM_021090.4(MTMR3):c.1747A>G (p.Thr583Ala)	HORMAD2-AS1, MTMR3 (T583A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490582	NM_021090.4(MTMR3):c.1883C>T (p.Ala628Val)	HORMAD2-AS1, MTMR3 (A628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545216	NM_021090.4(MTMR3):c.1923G>T (p.Trp641Cys)	HORMAD2-AS1, MTMR3 (W641C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342321	NM_021090.4(MTMR3):c.1933C>T (p.Arg645Trp)	HORMAD2-AS1, MTMR3 (R645W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535560	NM_021090.4(MTMR3):c.1936C>T (p.Arg646Cys)	HORMAD2-AS1, MTMR3 (R646C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371728	NM_021090.4(MTMR3):c.2047G>A (p.Gly683Arg)	HORMAD2-AS1, MTMR3 (G683R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483136	NM_021090.4(MTMR3):c.2089A>G (p.Thr697Ala)	HORMAD2-AS1, MTMR3 (T697A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285884	NM_021090.4(MTMR3):c.2134A>G (p.Ile712Val)	HORMAD2-AS1, MTMR3 (I712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216222	NM_021090.4(MTMR3):c.2164C>G (p.Leu722Val)	HORMAD2-AS1, MTMR3 (L722V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322055	NM_021090.4(MTMR3):c.2224G>T (p.Asp742Tyr)	HORMAD2-AS1, MTMR3 (D742Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216225	NM_021090.4(MTMR3):c.2240A>G (p.Asp747Gly)	HORMAD2-AS1, MTMR3 (D747G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522343	NM_021090.4(MTMR3):c.2281T>C (p.Phe761Leu)	HORMAD2-AS1, MTMR3 (F761L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216237	NM_021090.4(MTMR3):c.2311G>A (p.Gly771Arg)	HORMAD2-AS1, MTMR3 (G771R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218050	NM_021090.4(MTMR3):c.2390G>A (p.Arg797Gln)	HORMAD2-AS1, MTMR3 (R797Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469648	NM_021090.4(MTMR3):c.2446G>A (p.Ala816Thr)	HORMAD2-AS1, MTMR3 (A816T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235393	NM_021090.4(MTMR3):c.2508G>C (p.Glu836Asp)	HORMAD2-AS1, MTMR3 (E836D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594415	NM_021090.4(MTMR3):c.2556T>G (p.Asp852Glu)	HORMAD2-AS1, MTMR3 (D852E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331726	NM_021090.4(MTMR3):c.2559G>C (p.Lys853Asn)	HORMAD2-AS1, MTMR3 (K853N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216277	NM_021090.4(MTMR3):c.2591A>T (p.His864Leu)	HORMAD2-AS1, MTMR3 (H864L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529976	NM_021090.4(MTMR3):c.2605G>T (p.Val869Leu)	HORMAD2-AS1, MTMR3 (V869L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285312	NM_021090.4(MTMR3):c.2663G>A (p.Ser888Asn)	HORMAD2-AS1, MTMR3 (S888N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216282	NM_021090.4(MTMR3):c.2786A>G (p.Asn929Ser)	HORMAD2-AS1, MTMR3 (N929S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216284	NM_021090.4(MTMR3):c.2794C>T (p.Pro932Ser)	HORMAD2-AS1, MTMR3 (P932S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216286	NM_021090.4(MTMR3):c.2863A>C (p.Asn955His)	HORMAD2-AS1, MTMR3 (N955H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216288	NM_021090.4(MTMR3):c.2864A>G (p.Asn955Ser)	HORMAD2-AS1, MTMR3 (N955S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487656	NM_021090.4(MTMR3):c.2914C>T (p.Arg972Cys)	HORMAD2-AS1, MTMR3 (R972C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461692	NM_021090.4(MTMR3):c.2939G>C (p.Ser980Thr)	HORMAD2-AS1, MTMR3 (S980T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251276	NM_021090.4(MTMR3):c.2945C>T (p.Ala982Val)	HORMAD2-AS1, MTMR3 (A982V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326101	NM_021090.4(MTMR3):c.2968C>G (p.His990Asp)	HORMAD2-AS1, MTMR3 (H990D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392061	NM_021090.4(MTMR3):c.2985T>G (p.His995Gln)	HORMAD2-AS1, MTMR3 (H995Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204221	NM_021090.4(MTMR3):c.3034C>T (p.Arg1012Cys)	HORMAD2-AS1, MTMR3 (R1012C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367093	NM_021090.4(MTMR3):c.3077C>T (p.Thr1026Met)	HORMAD2-AS1, MTMR3 (T1026M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216306	NM_021090.4(MTMR3):c.3089G>A (p.Arg1030His)	HORMAD2-AS1, MTMR3 (R1030H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601693	NM_021090.4(MTMR3):c.3125T>C (p.Val1042Ala)	HORMAD2-AS1, MTMR3 (V1042A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265806	NM_021090.4(MTMR3):c.3196C>A (p.His1066Asn)	HORMAD2-AS1, MTMR3 (H1066N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612049	NM_021090.4(MTMR3):c.3322A>G (p.Lys1108Glu)	HORMAD2-AS1, MTMR3 (K1108E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216308	NM_021090.4(MTMR3):c.3331A>G (p.Thr1111Ala)	HORMAD2-AS1, MTMR3 (T1111A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221341	NM_021090.4(MTMR3):c.3385G>A (p.Asp1129Asn)	HORMAD2-AS1, MTMR3 (D1092N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317907	NM_021090.4(MTMR3):c.3515A>C (p.Lys1172Thr)	HORMAD2-AS1, MTMR3 (K1135T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337613	NM_021090.4(MTMR3):c.3539C>G (p.Pro1180Arg)	HORMAD2-AS1, MTMR3 (P1143R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225402	NM_021090.4(MTMR3):c.*1670C>T	HORMAD2-AS1, MTMR3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1526730	GRCh37/hg19 22q12.2(chr22:30021252-30305283)	ASCC2, CABP7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	CABP7, CCDC117 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 83