MTR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 155507	GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3	ACTN2, EDARADD +29 more	Copy number gain	See cases	GUncertain significance
Select item 147484	GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3	ACTN2, EDARADD +28 more	Copy number gain	See cases	GUncertain significance
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +301 more	Copy number loss	See cases	GPathogenic
Select item 463185	NC_000001.10:g.(?_236849954)_(237205889_?)dup	LOC129932885, LOC129932886 +9 more	Duplication	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1279969	NC_000001.11:g.236795083A>C	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1292298	NC_000001.11:g.236795178T>A	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1178608	NC_000001.11:g.236795215C>T	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1249677	NC_000001.11:g.236795232G>T	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 296534	NM_000254.2(MTR):c.-413C>A	MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296535	NM_000254.3(MTR):c.-379C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873589	NM_000254.3(MTR):c.-356C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873590	NM_000254.3(MTR):c.-344C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 873591	NM_000254.3(MTR):c.-328T>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296536	NM_000254.3(MTR):c.-321C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 873592	NM_000254.3(MTR):c.-309G>A	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296537	NM_000254.3(MTR):c.-249C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296538	NM_000254.3(MTR):c.-201C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GBenign/Likely benign
Select item 296539	NM_000254.3(MTR):c.-198C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 874593	NM_000254.3(MTR):c.-173G>A	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296540	NM_000254.3(MTR):c.-173G>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GLikely benign
Select item 296541	NM_000254.3(MTR):c.-151C>T	MTR, LOC129932885	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GBenign/Likely benign
Select item 296542	NM_000254.3(MTR):c.-133G>A	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296543	NM_000254.3(MTR):c.-111C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GBenign/Likely benign
Select item 296544	NM_000254.3(MTR):c.-108G>C	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 874594	NM_000254.3(MTR):c.-96C>A	MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 296545	NM_000254.3(MTR):c.-67C>T	MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 534574	NC_000001.11:g.(?_236795684)_(236897664_?)del	LOC129932886, MTR +1 more	Deletion	Methylcobalamin deficiency type cblG	GPathogenic
Select item 420357	NM_000254.3(MTR):c.-16GAG[1]	MTR	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 296546	NM_000254.3(MTR):c.-6G>C	MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 452311	NM_000254.3(MTR):c.1_2del (p.Met1fs)	MTR (M1fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2786946	NM_000254.3(MTR):c.6A>G (p.Ser2=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2769519	NM_000254.3(MTR):c.12_13del (p.Leu5fs)	LOC129932886, MTR (L5fs)	Microsatellite (frameshift variant +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 1575614	NM_000254.3(MTR):c.9C>T (p.Pro3=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1352967	NM_000254.3(MTR):c.13C>A (p.Leu5Ile)	LOC129932886, MTR (L5I)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GUncertain significance
Select item 3017562	NM_000254.3(MTR):c.18A>G (p.Gln6=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3018443	NM_000254.3(MTR):c.30A>G (p.Gln10=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2048162	NM_000254.3(MTR):c.33C>T (p.Pro11=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2900379	NM_000254.3(MTR):c.34+2T>C	LOC129932886, MTR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 3023039	NM_000254.3(MTR):c.34+9G>A	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 296547	NM_000254.3(MTR):c.34+10C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity
Select item 2888679	NM_000254.3(MTR):c.34+11G>C	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2794095	NM_000254.3(MTR):c.34+13C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 296548	NM_000254.3(MTR):c.34+13C>A	MTR, LOC129932886	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG +1 more	GConflicting classifications of pathogenicity
Select item 2807381	NM_000254.3(MTR):c.34+14C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3004601	NM_000254.3(MTR):c.34+15C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2701310	NM_000254.3(MTR):c.34+16C>A	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2854587	NM_000254.3(MTR):c.34+19C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1250432	NM_000254.3(MTR):c.34+45C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321483	NM_000254.3(MTR):c.34+139C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227726	NM_000254.3(MTR):c.34+215G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1941334	NM_000254.3(MTR):c.35-20A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 384554	NM_000254.3(MTR):c.35-19A>G	MTR	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2970647	NM_000254.3(MTR):c.35-14del	MTR	Deletion (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2153990	NM_000254.3(MTR):c.35-12C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1355331	NM_000254.3(MTR):c.55C>T (p.Arg19Trp)	MTR (R19W)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2608352	NM_000254.3(MTR):c.56G>A (p.Arg19Gln)	MTR (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2049453	NM_000254.3(MTR):c.63G>C (p.Glu21Asp)	MTR (E21D)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1002650	NM_000254.3(MTR):c.68A>G (p.Asn23Ser)	MTR (N23S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1367204	NM_000254.3(MTR):c.80A>G (p.Gln27Arg)	MTR (Q27R)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2979107	NM_000254.3(MTR):c.99G>A (p.Leu33=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 391043	NM_000254.3(MTR):c.108G>A (p.Gly36=)	MTR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2580055	NM_000254.3(MTR):c.118A>G (p.Met40Val)	MTR (M40V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186469	NM_000254.3(MTR):c.126G>A (p.Gln42=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 949756	NM_000254.3(MTR):c.127C>T (p.Arg43Trp)	MTR (R43W)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1411947	NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)	MTR (R43L)	Indel (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1018994	NM_000254.3(MTR):c.128G>A (p.Arg43Gln)	MTR (R43Q)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3045511	NM_000254.3(MTR):c.129G>T (p.Arg43=)	MTR	Single nucleotide variant (synonymous variant +1 more)	MTR-related condition	GLikely benign
Select item 1641964	NM_000254.3(MTR):c.135G>A (p.Lys45=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2103957	NM_000254.3(MTR):c.136C>T (p.Leu46=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2144845	NM_000254.3(MTR):c.141C>T (p.Asn47=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2982725	NM_000254.3(MTR):c.154C>T (p.Arg52Ter)	MTR (R52*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 534573	NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	MTR (R52Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2331852	NM_000254.3(MTR):c.163G>C (p.Glu55Gln)	MTR (E55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1668939	NM_000254.3(MTR):c.174T>C (p.Asp58=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2711948	NM_000254.3(MTR):c.177T>C (p.His59=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1425461	NM_000254.3(MTR):c.179C>G (p.Ala60Gly)	MTR (A60G)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 296549	NM_000254.3(MTR):c.181A>C (p.Arg61=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GConflicting classifications of pathogenicity
Select item 2871025	NM_000254.3(MTR):c.186G>A (p.Pro62=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2979213	NM_000254.3(MTR):c.192A>G (p.Lys64=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2008687	NM_000254.3(MTR):c.194G>A (p.Gly65Asp)	MTR (G65D)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3015464	NM_000254.3(MTR):c.213T>C (p.Ser71=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2759164	NM_000254.3(MTR):c.225T>G (p.Pro75=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2722262	NM_000254.3(MTR):c.237C>T (p.Tyr79=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2773251	NM_000254.3(MTR):c.240A>G (p.Gln80=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign

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