ClinVar for Gene (Select 101928525) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208967	NM_016034.5(MRPS2):c.577A>G (p.Ile193Val)	LOC101928525, MRPS2 (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208962	NM_016034.5(MRPS2):c.554C>A (p.Pro185His)	LOC101928525, MRPS2 (P185H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208955	NM_016034.5(MRPS2):c.505C>T (p.Arg169Cys)	LOC101928525, MRPS2 (R169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052588	NM_016034.5(MRPS2):c.300-9C>T	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3045063	NM_016034.5(MRPS2):c.495C>T (p.Tyr165=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3036546	NM_016034.5(MRPS2):c.329G>A (p.Arg110His)	LOC101928525, MRPS2 (R110H)	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3016172	NM_016034.5(MRPS2):c.815G>A (p.Arg272His)	MRPS2, LOC101928525 (R272H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011297	NM_016034.5(MRPS2):c.733G>T (p.Ala245Ser)	LOC101928525, MRPS2 (A245S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011220	NM_016034.5(MRPS2):c.740A>G (p.His247Arg)	LOC101928525, MRPS2 (H247R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974886	NM_016034.5(MRPS2):c.776G>A (p.Arg259Gln)	LOC101928525, MRPS2 (R259Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2970159	NM_016034.5(MRPS2):c.677A>G (p.Asn226Ser)	LOC101928525, MRPS2 (N226S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776258	NM_016034.5(MRPS2):c.725C>G (p.Ser242Cys)	LOC101928525, MRPS2 (S242C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2753858	NM_016034.5(MRPS2):c.728C>T (p.Pro243Leu)	LOC101928525, MRPS2 (P243L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749734	NM_016034.5(MRPS2):c.752G>A (p.Arg251Lys)	LOC101928525, MRPS2 (R251K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2710238	NM_016034.5(MRPS2):c.312G>A (p.Pro104=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 2599534	NM_016034.5(MRPS2):c.593C>T (p.Thr198Met)	LOC101928525, MRPS2 (T198M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583073	NM_016034.5(MRPS2):c.851C>T (p.Pro284Leu)	MRPS2, LOC101928525 (P284L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2547761	NM_016034.5(MRPS2):c.824G>A (p.Gly275Asp)	LOC101928525, MRPS2 (G275D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529564	NM_016034.5(MRPS2):c.880C>T (p.His294Tyr)	LOC101928525, MRPS2 (H294Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513970	NM_016034.5(MRPS2):c.478C>T (p.Arg160Cys)	LOC101928525, MRPS2 (R160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504597	NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)	LOC101928525, MRPS2 (E164K)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 2429260	NM_016034.5(MRPS2):c.300-2A>G	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GLikely pathogenic
Select item 2393394	NM_016034.5(MRPS2):c.535G>A (p.Ala179Thr)	LOC101928525, MRPS2 (A179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380157	NM_016034.5(MRPS2):c.712G>A (p.Gly238Ser)	LOC101928525, MRPS2 (G238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361883	NM_016034.5(MRPS2):c.311C>T (p.Pro104Leu)	LOC101928525, MRPS2 (P104L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2277004	NM_016034.5(MRPS2):c.440G>A (p.Arg147His)	LOC101928525, MRPS2 (R147H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2225630	NM_016034.5(MRPS2):c.731T>G (p.Leu244Arg)	LOC101928525, MRPS2 (L244R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 2187212	NM_016034.5(MRPS2):c.563G>A (p.Arg188His)	LOC101928525, MRPS2 (R188H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2169467	NM_016034.5(MRPS2):c.765G>A (p.Thr255=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2150540	NM_016034.5(MRPS2):c.496G>A (p.Ala166Thr)	LOC101928525, MRPS2 (A166T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2144770	NM_016034.5(MRPS2):c.369G>A (p.Thr123=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2094835	NM_016034.5(MRPS2):c.597C>T (p.Leu199=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059751	NM_016034.5(MRPS2):c.471C>T (p.Asn157=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056694	NM_016034.5(MRPS2):c.456G>A (p.Ser152=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2046941	NM_016034.5(MRPS2):c.420C>T (p.Gly140=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2043893	NM_016034.5(MRPS2):c.335A>G (p.Asp112Gly)	LOC101928525, MRPS2 (D112G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2043677	NM_016034.5(MRPS2):c.472A>G (p.Met158Val)	LOC101928525, MRPS2 (M158V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2039286	NM_016034.5(MRPS2):c.783G>A (p.Lys261=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2001428	NM_016034.5(MRPS2):c.715A>T (p.Asn239Tyr)	LOC101928525, MRPS2 (N239Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988669	NM_016034.5(MRPS2):c.558G>C (p.Thr186=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1988106	NM_016034.5(MRPS2):c.814C>T (p.Arg272Cys)	LOC101928525, MRPS2 (R272C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1979546	NM_016034.5(MRPS2):c.834G>T (p.Glu278Asp)	LOC101928525, MRPS2 (E278D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945681	NM_016034.5(MRPS2):c.375C>G (p.Leu125=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1934926	NM_016034.5(MRPS2):c.634G>A (p.Ala212Thr)	LOC101928525, MRPS2 (A212T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912768	NM_016034.5(MRPS2):c.775C>T (p.Arg259Trp)	LOC101928525, MRPS2 (R259W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722796	NM_016034.5(MRPS2):c.538C>T (p.Arg180Cys)	LOC101928525, MRPS2 (R180C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1656663	NM_016034.5(MRPS2):c.881A>G (p.His294Arg)	LOC101928525, MRPS2 (H294R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1600054	NM_016034.5(MRPS2):c.570G>A (p.Pro190=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1589986	NM_016034.5(MRPS2):c.479G>A (p.Arg160His)	LOC101928525, MRPS2 (R160H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1537898	NM_016034.5(MRPS2):c.536C>T (p.Ala179Val)	LOC101928525, MRPS2 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1404582	NM_016034.5(MRPS2):c.619G>T (p.Val207Leu)	LOC101928525, MRPS2 (V207L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1184428	NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu)	LOC101928525, MRPS2 (G283E)	Single nucleotide variant (missense variant +1 more)	MRPS2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1029573	NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr)	LOC101928525, MRPS2 (P288T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1029572	NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)	LOC101928525, MRPS2 (H134Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 992803	NM_016034.5(MRPS2):c.569C>T (p.Pro190Leu)	MRPS2, LOC101928525 (P190L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 523225	NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	LOC101928525, MRPS2 (R138H)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GConflicting classifications of pathogenicity
Select item 523224	NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)	LOC101928525, MRPS2 (D114N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36 +1 more	GConflicting classifications of pathogenicity
Select item 523223	NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)	LOC101928525, MRPS2 (R110C)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83