MRPL11[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic
Select item 2618008	NM_016050.5(MRPL11):c.518T>C (p.Ile173Thr)	MRPL11 (I147T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612118	NM_016050.5(MRPL11):c.499T>C (p.Phe167Leu)	MRPL11 (F141L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3206661	NM_016050.5(MRPL11):c.463G>A (p.Val155Met)	MRPL11 (V129M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526009	NM_016050.5(MRPL11):c.461G>A (p.Arg154His)	MRPL11 (R128H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603481	NM_016050.5(MRPL11):c.460C>T (p.Arg154Cys)	MRPL11 (R154C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468050	NM_016050.5(MRPL11):c.446G>A (p.Arg149His)	MRPL11 (R123H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396933	NM_016050.5(MRPL11):c.364C>A (p.Arg122Ser)	MRPL11 (R96S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373374	NM_016050.5(MRPL11):c.305G>A (p.Arg102Gln)	MRPL11 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332946	NM_016050.5(MRPL11):c.88A>G (p.Met30Val)	LOC130006119, MRPL11 (M30V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262796	NM_016050.5(MRPL11):c.79G>A (p.Gly27Ser)	LOC130006119, MRPL11 (G27S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608505	NM_016050.5(MRPL11):c.74G>A (p.Arg25Gln)	LOC130006119, MRPL11 (R25Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364337	NM_016050.5(MRPL11):c.20C>T (p.Ala7Val)	LOC130006119, MRPL11 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607628	NM_016050.5(MRPL11):c.17G>C (p.Arg6Pro)	LOC130006119, MRPL11 (R6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425650	NC_000011.9:g.(?_66099747)_(66291373_?)dup	BRMS1, PELI3 +7 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527645	GRCh37/hg19 11q13.2(chr11:66188172-66402747)	ACTN3, BBS1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 31