MMS19[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 2209761	NM_022362.5(MMS19):c.3008C>T (p.Pro1003Leu)	MMS19 (P1003L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295386	NM_022362.5(MMS19):c.3004A>G (p.Lys1002Glu)	MMS19 (K1041E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301978	NM_022362.5(MMS19):c.2980C>T (p.Pro994Ser)	MMS19 (P630S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267478	NM_022362.5(MMS19):c.2953C>T (p.Pro985Ser)	MMS19 (P1024S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380651	NM_022362.5(MMS19):c.2947C>T (p.Arg983Cys)	MMS19 (R1022C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175427	NM_022362.5(MMS19):c.2917G>A (p.Ala973Thr)	MMS19 (A814T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476839	NM_022362.5(MMS19):c.2912G>A (p.Arg971Gln)	MMS19 (R971Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559181	NM_022362.5(MMS19):c.2877T>G (p.Phe959Leu)	MMS19 (F800L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295381	NM_022362.5(MMS19):c.2782G>A (p.Val928Met)	MMS19 (V770M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175323	NM_022362.5(MMS19):c.2773C>G (p.Pro925Ala)	MMS19 (P766A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336955	NM_022362.5(MMS19):c.2738C>T (p.Thr913Met)	MMS19 (T754M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306599	NM_022362.5(MMS19):c.2663A>C (p.Lys888Thr)	MMS19 (K729T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212324	NM_022362.5(MMS19):c.2594G>A (p.Arg865His)	MMS19 (R707H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485255	NM_022362.5(MMS19):c.2593C>T (p.Arg865Cys)	MMS19 (R707C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476056	NM_022362.5(MMS19):c.2589G>C (p.Met863Ile)	MMS19 (M499I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175153	NM_022362.5(MMS19):c.2582G>A (p.Arg861Gln)	MMS19 (R818Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463170	NM_022362.5(MMS19):c.2577A>T (p.Glu859Asp)	MMS19 (E701D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550641	NM_022362.5(MMS19):c.2570A>C (p.His857Pro)	MMS19 (H814P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204592	NM_022362.5(MMS19):c.2566G>A (p.Gly856Ser)	MMS19 (G492S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373400	NM_022362.5(MMS19):c.2560C>G (p.Arg854Gly)	MMS19 (R490G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175042	NM_022362.5(MMS19):c.2503C>T (p.Pro835Ser)	MMS19 (P835S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295380	NM_022362.5(MMS19):c.2474T>C (p.Met825Thr)	MMS19 (M667T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175001	NM_022362.5(MMS19):c.2467C>T (p.Arg823Trp)	MMS19 (R780W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354018	NM_022362.5(MMS19):c.2353G>A (p.Val785Met)	MMS19 (V742M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531738	NM_022362.5(MMS19):c.2065G>A (p.Val689Met)	MMS19 (V325M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368400	NM_022362.5(MMS19):c.2063A>G (p.Asn688Ser)	MMS19 (N529S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350600	NM_022362.5(MMS19):c.2044C>T (p.Pro682Ser)	MMS19 (P584S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720164	NM_022362.5(MMS19):c.1968C>T (p.Ala656=)	MMS19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307176	NM_022362.5(MMS19):c.1913A>G (p.Glu638Gly)	MMS19 (E595G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340619	NM_022362.5(MMS19):c.1909C>T (p.Pro637Ser)	MMS19 (P539S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294228	NM_022362.5(MMS19):c.1870A>G (p.Ile624Val)	MMS19 (I526V +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174669	NM_022362.5(MMS19):c.1853A>G (p.Tyr618Cys)	MMS19 (Y575C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295383	NM_022362.5(MMS19):c.1735C>G (p.His579Asp)	MMS19 (H421D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373592	NM_022362.5(MMS19):c.1705G>A (p.Val569Ile)	MMS19 (V410I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174611	NM_022362.5(MMS19):c.1697C>T (p.Pro566Leu)	MMS19 (P407L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331426	NM_022362.5(MMS19):c.1696C>A (p.Pro566Thr)	MMS19 (P407T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557794	NM_022362.5(MMS19):c.1652G>A (p.Arg551Gln)	MMS19 (R187Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231903	NM_022362.5(MMS19):c.1633G>A (p.Glu545Lys)	MMS19 (E387K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239011	NM_022362.5(MMS19):c.1604T>C (p.Val535Ala)	MMS19 (V377A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174475	NM_022362.5(MMS19):c.1600C>G (p.Arg534Gly)	MMS19 (R375G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481309	NM_022362.5(MMS19):c.1516G>A (p.Ala506Thr)	MMS19 (A347T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295385	NM_022362.5(MMS19):c.1418A>G (p.Gln473Arg)	MMS19 (Q109R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384428	NM_022362.5(MMS19):c.1411G>A (p.Gly471Ser)	MMS19 (G510S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392451	NM_022362.5(MMS19):c.1322A>G (p.Lys441Arg)	MMS19 (K480R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210963	NM_022362.5(MMS19):c.1286A>G (p.Tyr429Cys)	MMS19 (Y271C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375898	NM_022362.5(MMS19):c.1260C>G (p.Phe420Leu)	MMS19 (F322L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455921	NM_022362.5(MMS19):c.1229G>A (p.Arg410Gln)	MMS19 (R46Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769785	NM_022362.5(MMS19):c.1226A>C (p.Gln409Pro)	MMS19 (Q409P +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3174087	NM_022362.5(MMS19):c.1184C>T (p.Pro395Leu)	MMS19 (P395L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565983	NM_022362.5(MMS19):c.1175A>G (p.Asn392Ser)	MMS19 (N234S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406267	NM_022362.5(MMS19):c.1078C>G (p.Leu360Val)	MMS19 (L317V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392884	NM_022362.5(MMS19):c.1065C>A (p.Asp355Glu)	MMS19 (D197E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297533	NM_022362.5(MMS19):c.1026G>C (p.Glu342Asp)	MMS19 (E342D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176118	NM_022362.5(MMS19):c.915C>G (p.Ile305Met)	MMS19 (I262M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295382	NM_022362.5(MMS19):c.913A>G (p.Ile305Val)	MMS19 (I262V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176079	NM_022362.5(MMS19):c.757C>T (p.Pro253Ser)	MMS19 (P95S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408469	NM_022362.5(MMS19):c.736C>T (p.Arg246Cys)	MMS19 (R203C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236994	NM_022362.5(MMS19):c.704G>A (p.Gly235Asp)	MMS19 (G192D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282677	NM_022362.5(MMS19):c.691A>C (p.Asn231His)	MMS19 (N73H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278318	NM_022362.5(MMS19):c.689C>A (p.Pro230His)	MMS19 (P72H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603599	NM_022362.5(MMS19):c.583C>T (p.Arg195Cys)	MMS19 (R195C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175788	NM_022362.5(MMS19):c.562C>T (p.Arg188Cys)	MMS19 (R227C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175750	NM_022362.5(MMS19):c.542T>C (p.Met181Thr)	MMS19 (M23T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332443	NM_022362.5(MMS19):c.479G>A (p.Arg160Gln)	MMS19 (R2Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372029	NM_022362.5(MMS19):c.436G>A (p.Val146Met)	MMS19 (V185M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312815	NM_022362.5(MMS19):c.392T>A (p.Leu131His)	MMS19 (L170H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175635	NM_022362.5(MMS19):c.374G>A (p.Gly125Glu)	MMS19 (G125E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385452	NM_022362.5(MMS19):c.367C>G (p.Pro123Ala)	MMS19 (P123A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295384	NM_022362.5(MMS19):c.325G>A (p.Val109Ile)	MMS19 (V148I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471801	NM_022362.5(MMS19):c.317T>C (p.Ile106Thr)	MMS19 (I106T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520742	NM_022362.5(MMS19):c.284A>G (p.Tyr95Cys)	MMS19 (Y95C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546830	NM_022362.5(MMS19):c.240C>A (p.His80Gln)	MMS19 (H80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174934	NM_022362.5(MMS19):c.218C>T (p.Ser73Leu)	MMS19 (S73L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174797	NM_022362.5(MMS19):c.194G>A (p.Arg65Gln)	MMS19 (R65Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364769	NM_022362.5(MMS19):c.188G>A (p.Arg63Gln)	MMS19 (R63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254601	NM_022362.5(MMS19):c.157C>A (p.Leu53Ile)	MMS19 (L53I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174325	NM_022362.5(MMS19):c.133A>G (p.Thr45Ala)	MMS19 (T45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460767	NM_022362.5(MMS19):c.62A>G (p.His21Arg)	LOC130004472, MMS19 (H21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351117	NM_022362.5(MMS19):c.10G>A (p.Ala4Thr)	MMS19 (A4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282930	NM_022362.5(MMS19):c.5C>T (p.Ala2Val)	MMS19 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063163	GRCh37/hg19 10q24.1-24.2(chr10:99109931-99405396)x3	ANKRD2, C10orf62 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808078	GRCh37/hg19 10q24.1-24.2(chr10:99027360-99300723)x1	ARHGAP19, EXOSC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1527598	GRCh37/hg19 10q24.1-24.2(chr10:99070594-99445724)	ANKRD2, AVPI1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 100