ClinVar for Gene (Select 51116) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063105	GRCh37/hg19 9q34.3(chr9:137892345-138866686)x3	CAMSAP1, GLT6D1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3055007	NM_016034.5(MRPS2):c.299+7G>A	MRPS2	Single nucleotide variant (intron variant)	MRPS2-related condition	GLikely benign
Select item 3052588	NM_016034.5(MRPS2):c.300-9C>T	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related condition	GLikely benign
Select item 3051888	NM_016034.5(MRPS2):c.169+9G>A	MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related condition	GLikely benign
Select item 3047417	NM_016034.5(MRPS2):c.204G>A (p.Lys68=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related condition	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 condition	GLikely benign
Select item 3041063	NM_016034.5(MRPS2):c.170-4G>A	MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related condition	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 condition	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 2981755	NM_016034.5(MRPS2):c.43+4_43+7del	MRPS2	Deletion (intron variant)	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	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 2961281	NM_016034.5(MRPS2):c.72C>G (p.Gly24=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958337	NM_016034.5(MRPS2):c.93C>T (p.Pro31=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895865	NM_016034.5(MRPS2):c.65G>A (p.Trp22Ter)	MRPS2 (W22*)	Single nucleotide variant (nonsense +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 2760177	NM_016034.5(MRPS2):c.44-11C>G	MRPS2	Single nucleotide variant (intron variant)	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 2705527	NM_016034.5(MRPS2):c.46G>A (p.Ala16Thr)	MRPS2 (A16T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2671727	NM_016034.5(MRPS2):c.223G>A (p.Val75Ile)	MRPS2 (V75I)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 2622754	NM_016034.5(MRPS2):c.112C>G (p.Arg38Gly)	MRPS2 (R38G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2599534	NM_016034.5(MRPS2):c.593C>T (p.Thr198Met)	LOC101928525, MRPS2 (T198M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2583073	NM_016034.5(MRPS2):c.851C>T (p.Pro284Leu)	LOC101928525, MRPS2 (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)	Inborn genetic diseases	GUncertain significance
Select item 2529564	NM_016034.5(MRPS2):c.880C>T (p.His294Tyr)	LOC101928525, MRPS2 (H294Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513970	NM_016034.5(MRPS2):c.478C>T (p.Arg160Cys)	LOC101928525, MRPS2 (R160C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2457491	NM_016034.5(MRPS2):c.140T>A (p.Leu47His)	MRPS2 (L47H)	Single nucleotide variant (missense variant +1 more)	MRPS2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2457355	NM_016034.5(MRPS2):c.104G>T (p.Arg35Leu)	MRPS2 (R35L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2393394	NM_016034.5(MRPS2):c.535G>A (p.Ala179Thr)	MRPS2, LOC101928525 (A179T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392912	NM_016034.5(MRPS2):c.25C>T (p.Pro9Ser)	MRPS2 (P9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380157	NM_016034.5(MRPS2):c.712G>A (p.Gly238Ser)	MRPS2, LOC101928525 (G238S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2277004	NM_016034.5(MRPS2):c.440G>A (p.Arg147His)	MRPS2, LOC101928525 (R147H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225630	NM_016034.5(MRPS2):c.731T>G (p.Leu244Arg)	MRPS2, LOC101928525 (L244R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213912	NM_016034.5(MRPS2):c.25C>A (p.Pro9Thr)	MRPS2 (P9T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2197872	NM_016034.5(MRPS2):c.71G>A (p.Gly24Asp)	MRPS2 (G24D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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)	MRPS2-related condition +1 more	GLikely benign
Select item 2053237	NM_016034.5(MRPS2):c.299+20G>A	MRPS2	Single nucleotide variant (intron variant)	not provided	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 2027814	NM_016034.5(MRPS2):c.203A>G (p.Lys68Arg)	MRPS2 (K68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	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 1930226	NM_016034.5(MRPS2):c.299+16A>C	MRPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1904461	NM_016034.5(MRPS2):c.96G>A (p.Arg32=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1722796	NM_016034.5(MRPS2):c.538C>T (p.Arg180Cys)	LOC101928525, MRPS2 (R180C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722795	NM_016034.5(MRPS2):c.236T>A (p.Phe79Tyr)	MRPS2 (F79Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 1601052	NM_016034.5(MRPS2):c.89C>A (p.Thr30Asn)	MRPS2 (T30N)	Single nucleotide variant (missense variant +1 more)	MRPS2-related condition +1 more	GBenign
Select item 1600054	NM_016034.5(MRPS2):c.570G>A (p.Pro190=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related condition +1 more	GBenign/Likely benign
Select item 1599215	NM_016034.5(MRPS2):c.155C>T (p.Ser52Leu)	MRPS2 (S52L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1589986	NM_016034.5(MRPS2):c.479G>A (p.Arg160His)	LOC101928525, MRPS2 (R160H)	Single nucleotide variant (missense variant +1 more)	MRPS2-related condition +1 more	GBenign
Select item 1542228	NM_016034.5(MRPS2):c.44-8C>A	MRPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1404582	NM_016034.5(MRPS2):c.619G>T (p.Val207Leu)	LOC101928525, MRPS2 (V207L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1319745	NM_016034.5(MRPS2):c.299+95G>C	MRPS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1184428	NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu)	MRPS2, LOC101928525 (G283E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1184427	NM_016034.5(MRPS2):c.14C>T (p.Ser5Leu)	MRPS2 (S5L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36 +1 more	GUncertain significance
Select item 1029573	NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr)	LOC101928525, MRPS2 (P288T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36 +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 929394	GRCh37/hg19 9q34.3(chr9:137880493-138781516)x3	PPP1R26, SOHLH1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 815303	GRCh37/hg19 9q34.3(chr9:138023579-138498904)x3	PPP1R26, LCN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	TMEM250, PPP1R26 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance

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