MRPL2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2216453	NM_015950.5(MRPL2):c.871C>G (p.Pro291Ala)	MRPL2 (P291A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1307414	NC_000006.12:g.43054341C>T	CUL7, MRPL2 (R284Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2251887	NM_015950.5(MRPL2):c.805A>G (p.Arg269Gly)	MRPL2 (R269G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3207079	NM_015950.5(MRPL2):c.790C>T (p.Arg264Cys)	MRPL2 (R264C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405559	NM_015950.5(MRPL2):c.721G>A (p.Val241Ile)	MRPL2 (R216H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207073	NM_015950.5(MRPL2):c.656A>C (p.Lys219Thr)	MRPL2 (K219T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206010	NM_015950.5(MRPL2):c.649C>G (p.Leu217Val)	MRPL2 (L217V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544502	NM_015950.5(MRPL2):c.577A>G (p.Ile193Val)	MRPL2 (I193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263443	NM_015950.5(MRPL2):c.385G>A (p.Val129Ile)	MRPL2 (V129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207057	NM_015950.5(MRPL2):c.356C>T (p.Ser119Leu)	MRPL2 (S119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384461	NM_015950.5(MRPL2):c.337C>T (p.Arg113Trp)	MRPL2 (R113W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544880	NM_015950.5(MRPL2):c.331C>T (p.Arg111Cys)	MRPL2 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295980	NM_015950.5(MRPL2):c.308G>T (p.Arg103Leu)	MRPL2 (R103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295977	NM_015950.5(MRPL2):c.307C>T (p.Arg103Cys)	MRPL2 (R103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324943	NM_015950.5(MRPL2):c.281A>G (p.His94Arg)	MRPL2 (H94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483087	NM_015950.5(MRPL2):c.277G>T (p.Val93Leu)	MRPL2 (V93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344374	NM_015950.5(MRPL2):c.275G>A (p.Arg92Gln)	MRPL2 (R92Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262514	NM_015950.5(MRPL2):c.274C>T (p.Arg92Trp)	MRPL2 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520937	NM_015950.5(MRPL2):c.152G>A (p.Arg51His)	MRPL2 (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295071	NM_015950.5(MRPL2):c.115C>T (p.Leu39Phe)	MRPL2 (L39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295979	NM_015950.5(MRPL2):c.107A>G (p.Asn36Ser)	MRPL2 (N36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289265	NM_015950.5(MRPL2):c.55A>C (p.Thr19Pro)	MRPL2 (T19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207064	NM_015950.5(MRPL2):c.47C>T (p.Ala16Val)	LOC129996488, MRPL2 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295978	NM_015950.5(MRPL2):c.14C>T (p.Ala5Val)	LOC129996488, MRPL2 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 36