MRPL43[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 2507893	NM_017893.4(SEMA4G):c.446C>A (p.Ala149Asp)	MRPL43, SEMA4G (A149D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361658	NM_017893.4(SEMA4G):c.474G>C (p.Glu158Asp)	MRPL43, SEMA4G (E158D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348422	NM_017893.4(SEMA4G):c.505C>T (p.Arg169Cys)	MRPL43, SEMA4G (R169C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159848	NM_017893.4(SEMA4G):c.506G>A (p.Arg169His)	MRPL43, SEMA4G (R169H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400441	NM_017893.4(SEMA4G):c.535G>A (p.Gly179Ser)	MRPL43, SEMA4G (G179S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464682	NM_017893.4(SEMA4G):c.586C>T (p.Arg196Trp)	MRPL43, SEMA4G (R196W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399230	NM_017893.4(SEMA4G):c.628A>G (p.Met210Val)	MRPL43, SEMA4G (M210V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284890	NM_017893.4(SEMA4G):c.670G>A (p.Val224Met)	MRPL43, SEMA4G (V224M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3159849	NM_017893.4(SEMA4G):c.681C>G (p.Ser227Arg)	MRPL43, SEMA4G (A261P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159850	NM_017893.4(SEMA4G):c.785G>A (p.Arg262His)	MRPL43, SEMA4G (R184W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 770208	NM_017893.4(SEMA4G):c.891A>G (p.Pro297=)	MRPL43, SEMA4G	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2588588	NM_017893.4(SEMA4G):c.902C>T (p.Thr301Ile)	MRPL43, SEMA4G (T301I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3317357	NM_017893.4(SEMA4G):c.923T>C (p.Leu308Pro)	MRPL43, SEMA4G (L308P)	Single nucleotide variant (intron variant +3 more)	not specified	GUncertain significance
Select item 2267441	NM_017893.4(SEMA4G):c.979C>G (p.Gln327Glu)	MRPL43, SEMA4G (V212L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289874	NM_017893.4(SEMA4G):c.986A>G (p.Lys329Arg)	MRPL43, SEMA4G (K329R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159833	NM_017893.4(SEMA4G):c.1024G>A (p.Ala342Thr)	MRPL43, SEMA4G (A342T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365609	NM_017893.4(SEMA4G):c.1036G>A (p.Ala346Thr)	MRPL43, SEMA4G (A346T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159834	NM_017893.4(SEMA4G):c.1039G>A (p.Val347Ile)	MRPL43, SEMA4G (V347I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508028	NM_017893.4(SEMA4G):c.1067A>T (p.Gln356Leu)	MRPL43, SEMA4G (Q356L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159835	NM_017893.4(SEMA4G):c.1078C>T (p.Arg360Trp)	MRPL43, SEMA4G (R360W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379184	NM_017893.4(SEMA4G):c.1088G>A (p.Gly363Asp)	MRPL43, SEMA4G (G363D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317361	NM_017893.4(SEMA4G):c.1093T>C (p.Tyr365His)	MRPL43, SEMA4G (Y365H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398527	NM_017893.4(SEMA4G):c.1094A>G (p.Tyr365Cys)	MRPL43, SEMA4G (Y365C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317360	NM_017893.4(SEMA4G):c.1148G>A (p.Arg383His)	MRPL43, SEMA4G (R383H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588082	NM_017893.4(SEMA4G):c.1249C>T (p.Arg417Trp)	MRPL43, SEMA4G (R417W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785327	NM_017893.4(SEMA4G):c.1374C>T (p.Ala458=)	MRPL43, SEMA4G	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3317353	NM_017893.4(SEMA4G):c.1395G>A (p.Met465Ile)	MRPL43, SEMA4G (M465I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366290	NM_017893.4(SEMA4G):c.1495G>A (p.Gly499Arg)	MRPL43, SEMA4G (G499R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 788432	NM_017893.4(SEMA4G):c.1501A>G (p.Ile501Val)	MRPL43, SEMA4G (I501V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2616578	NM_017893.4(SEMA4G):c.1562G>A (p.Arg521Gln)	MRPL43, SEMA4G (R521Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371323	NM_017893.4(SEMA4G):c.1592C>A (p.Thr531Asn)	MRPL43, SEMA4G (T531N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159836	NM_017893.4(SEMA4G):c.1603G>A (p.Ala535Thr)	MRPL43, SEMA4G (A535T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317356	NM_017893.4(SEMA4G):c.1624A>G (p.Asn542Asp)	MRPL43, SEMA4G (N542D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785328	NM_017893.4(SEMA4G):c.1632C>T (p.Ser544=)	MRPL43, SEMA4G	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3317359	NM_017893.4(SEMA4G):c.1655T>C (p.Ile552Thr)	MRPL43, SEMA4G (I552T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460552	NM_017893.4(SEMA4G):c.1709C>T (p.Pro570Leu)	MRPL43, SEMA4G (P570L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479882	NM_017893.4(SEMA4G):c.1730G>A (p.Arg577His)	MRPL43, SEMA4G (R572H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526716	NM_017893.4(SEMA4G):c.1741C>T (p.Arg581Trp)	MRPL43, SEMA4G (R576W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482530	NM_017893.4(SEMA4G):c.1741C>G (p.Arg581Gly)	MRPL43, SEMA4G (R581G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159837	NM_017893.4(SEMA4G):c.1742G>C (p.Arg581Pro)	MRPL43, SEMA4G (R581P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 724462	NM_017893.4(SEMA4G):c.1789C>T (p.Arg597Trp)	SEMA4G, MRPL43 (R597W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3317354	NM_017893.4(SEMA4G):c.1790G>A (p.Arg597Gln)	MRPL43, SEMA4G (R597Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280445	NM_017893.4(SEMA4G):c.1814G>T (p.Ser605Ile)	MRPL43, SEMA4G (S600I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340642	NM_017893.4(SEMA4G):c.1817T>C (p.Met606Thr)	MRPL43, SEMA4G (M601T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239683	NM_017893.4(SEMA4G):c.1828G>A (p.Asp610Asn)	MRPL43, SEMA4G (D605N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215669	NM_017893.4(SEMA4G):c.1846C>T (p.Arg616Cys)	MRPL43, SEMA4G (R611C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159838	NM_017893.4(SEMA4G):c.1870G>C (p.Val624Leu)	MRPL43, SEMA4G (V619L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268942	NM_017893.4(SEMA4G):c.1933C>T (p.Arg645Cys)	MRPL43, SEMA4G (R645C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459141	NM_017893.4(SEMA4G):c.1940T>C (p.Leu647Pro)	MRPL43, SEMA4G (L642P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327698	NM_017893.4(SEMA4G):c.1997C>G (p.Ala666Gly)	MRPL43, SEMA4G (A661G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159839	NM_017893.4(SEMA4G):c.2062G>A (p.Ala688Thr)	MRPL43, SEMA4G (A683T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300846	NM_017893.4(SEMA4G):c.2080C>T (p.Leu694Phe)	MRPL43, SEMA4G (L694F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317358	NM_017893.4(SEMA4G):c.2143C>G (p.Arg715Gly)	MRPL43, SEMA4G (R710G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 723350	NM_176794.2(MRPL43):c.649C>T (p.Arg217Ter)	SEMA4G, MRPL43 (R721Q +2 more)	Single nucleotide variant (missense variant +4 more)	not provided	GLikely benign
Select item 2459525	NM_017893.4(SEMA4G):c.2177G>A (p.Gly726Glu)	MRPL43, SEMA4G (G721E +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3317362	NM_017893.4(SEMA4G):c.2335C>A (p.Pro779Thr)	MRPL43, SEMA4G (P779T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159842	NM_017893.4(SEMA4G):c.2420G>A (p.Ser807Asn)	MRPL43, SEMA4G (S802N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463227	NM_017893.4(SEMA4G):c.2471G>A (p.Arg824His)	MRPL43, SEMA4G (R819H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402723	NM_017893.4(SEMA4G):c.2495C>G (p.Thr832Arg)	MRPL43, SEMA4G (T832R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159843	NM_017893.4(SEMA4G):c.2520G>C (p.Glu840Asp)	MRPL43, SEMA4G (E835D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406484	NM_032112.3(MRPL43):c.410C>T (p.Pro137Leu)	MRPL43 (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296026	NM_032112.3(MRPL43):c.369C>A (p.Asn123Lys)	MRPL43 (N123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296025	NM_032112.3(MRPL43):c.292T>G (p.Ser98Ala)	MRPL43 (S98A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469036	NM_032112.3(MRPL43):c.250G>C (p.Val84Leu)	MRPL43 (V84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294249	NM_032112.3(MRPL43):c.101G>C (p.Ser34Thr)	MRPL43 (S34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207904	NM_032112.3(MRPL43):c.65A>G (p.Tyr22Cys)	MRPL43 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272258	NM_032112.3(MRPL43):c.52G>A (p.Gly18Arg)	MRPL43 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	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 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: 82