MRPL46[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 3208122	NM_022163.4(MRPL46):c.790T>A (p.Leu264Met)	MRPL46 (L264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208117	NM_022163.4(MRPL46):c.740G>A (p.Gly247Glu)	MRPL46 (G247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296035	NM_022163.4(MRPL46):c.672G>C (p.Glu224Asp)	MRPL46 (E224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262027	NM_022163.4(MRPL46):c.661A>G (p.Met221Val)	MRPL46 (M221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254704	NM_022163.4(MRPL46):c.650T>A (p.Phe217Tyr)	MRPL46 (F217Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556174	NM_022163.4(MRPL46):c.637T>C (p.Tyr213His)	MRPL46 (Y213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208103	NM_022163.4(MRPL46):c.593A>C (p.Asn198Thr)	MRPL46 (N198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477426	NM_022163.4(MRPL46):c.550C>T (p.Leu184Phe)	MRPL46 (L184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589837	NM_022163.4(MRPL46):c.539C>T (p.Pro180Leu)	MRPL46 (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526923	NM_022163.4(MRPL46):c.532T>C (p.Trp178Arg)	MRPL46 (W178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321233	NM_022163.4(MRPL46):c.457C>G (p.Leu153Val)	MRPL46 (L153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521225	NM_022163.4(MRPL46):c.437G>A (p.Arg146Gln)	MRPL46 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306795	NM_022163.4(MRPL46):c.437G>T (p.Arg146Leu)	MRPL46 (R146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459426	NM_022163.4(MRPL46):c.428A>G (p.Lys143Arg)	MRPL46 (K143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365093	NM_022163.4(MRPL46):c.409A>G (p.Ile137Val)	MRPL46 (I137V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389980	NM_022163.4(MRPL46):c.406C>T (p.Arg136Cys)	MRPL46 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483781	NM_022163.4(MRPL46):c.390G>T (p.Gln130His)	MRPL46 (Q130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253319	NM_022163.4(MRPL46):c.313C>T (p.Leu105Phe)	MRPL46 (L105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266013	NM_022163.4(MRPL46):c.311A>G (p.Asp104Gly)	MRPL46 (D104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161757	NM_022163.4(MRPL46):c.289C>T (p.Arg97Ter)	MRPL46 (R97*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 2321808	NM_022163.4(MRPL46):c.209T>C (p.Met70Thr)	MRPL46 (M70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289074	NM_022163.4(MRPL46):c.207G>C (p.Glu69Asp)	MRPL46 (E69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379057	NM_022163.4(MRPL46):c.163C>T (p.Arg55Trp)	MRPL46 (R55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277161	NM_022163.4(MRPL46):c.157C>G (p.Leu53Val)	MRPL46 (L53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360894	NM_022163.4(MRPL46):c.131C>T (p.Pro44Leu)	MRPL46 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555742	NM_022163.4(MRPL46):c.125G>C (p.Gly42Ala)	MRPL46 (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208126	NM_022163.4(MRPL46):c.98C>T (p.Ala33Val)	MRPL46 (A33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208094	NM_022163.4(MRPL46):c.53G>T (p.Arg18Leu)	MRPL46 (R18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549513	NM_022163.4(MRPL46):c.44G>A (p.Gly15Asp)	MRPL46 (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208052	NM_022163.4(MRPL46):c.31G>T (p.Gly11Trp)	MRPL46 (G11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 61