ClinVar for Gene (Select 4548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3581670	NM_000254.3(MTR):c.3712-1G>A	MTR	Single nucleotide variant (splice acceptor variant)	Methylcobalamin deficiency type cblG +1 more	GLikely pathogenic
Select item 3581642	NM_000254.3(MTR):c.1695+2T>A	MTR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblG +1 more	GLikely pathogenic
Select item 3581635	NM_000254.3(MTR):c.1513C>T (p.Gln505Ter)	MTR (Q98* +1 more)	Single nucleotide variant (nonsense)	Methylcobalamin deficiency type cblG +1 more	GLikely pathogenic
Select item 3581626	NM_000254.3(MTR):c.1231C>T (p.Gln411Ter)	MTR (Q4* +1 more)	Single nucleotide variant (nonsense)	Methylcobalamin deficiency type cblG +1 more	GLikely pathogenic
Select item 3581614	NM_000254.3(MTR):c.640del (p.Glu214fs)	MTR (E214fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GLikely pathogenic
Select item 3399640	NM_000254.3(MTR):c.1354A>G (p.Asn452Asp)	MTR (N452D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3399639	NM_000254.3(MTR):c.616T>A (p.Leu206Met)	MTR (L206M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3399638	NM_000254.3(MTR):c.647A>G (p.Lys216Arg)	MTR (K216R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3399637	NM_000254.3(MTR):c.2983A>G (p.Lys995Glu)	MTR (K588E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3399636	NM_000254.3(MTR):c.1932G>C (p.Glu644Asp)	MTR (E237D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3399635	NM_000254.3(MTR):c.832A>G (p.Thr278Ala)	MTR (T278A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3399634	NM_000254.3(MTR):c.3024G>C (p.Lys1008Asn)	MTR (K957N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391841	GRCh37/hg19 1q42.13-43(chr1:228803269-243112182)x3	ABCB10, ACTA1 +67 more	Copy number gain	not provided	GPathogenic
Select item 3384927	NM_000254.3(MTR):c.3007+1G>A	MTR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 3375998	NM_000254.3(MTR):c.1058G>C (p.Gly353Ala)	MTR (G353A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373420	NM_000254.3(MTR):c.1215G>C (p.Gln405His)	MTR (Q405H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372501	NM_000254.3(MTR):c.2148G>A (p.Met716Ile)	MTR (M309I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339758	NM_000254.3(MTR):c.1784A>C (p.His595Pro)	MTR (H188P +1 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +2 more	GConflicting classifications of pathogenicity
Select item 3336182	NM_000254.3(MTR):c.871C>T (p.Pro291Ser)	MTR (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296759	NM_000254.3(MTR):c.1754G>A (p.Arg585Gln)	MTR (R585Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296758	NM_000254.3(MTR):c.3040C>T (p.His1014Tyr)	MTR (H963Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296757	NM_000254.3(MTR):c.2462A>G (p.Asp821Gly)	MTR (D770G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296756	NM_000254.3(MTR):c.1505A>G (p.Glu502Gly)	MTR (E95G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296755	NM_000254.3(MTR):c.3656A>G (p.Tyr1219Cys)	MTR (Y1156C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296753	NM_000254.3(MTR):c.365C>T (p.Ala122Val)	MTR (A122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296752	NM_000254.3(MTR):c.3431G>C (p.Arg1144Thr)	MTR (R737T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247760	NC_000001.10:g.(?_237054413)_(237057877_?)del	MTR	Deletion	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3247731	NC_000001.10:g.(?_236902582)_(237995947_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247725	NC_000001.10:g.(?_236902582)_(237944966_?)del	ACTN2, MT1HL1 +2 more	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247717	NC_000001.10:g.(?_236849974)_(237205889_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 3217496	NM_000254.3(MTR):c.463G>C (p.Val155Leu)	MTR (V155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217485	NM_000254.3(MTR):c.3739A>G (p.Ile1247Val)	MTR (I1184V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217478	NM_000254.3(MTR):c.3493A>G (p.Arg1165Gly)	MTR (R1114G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217468	NM_000254.3(MTR):c.3280C>T (p.Arg1094Cys)	MTR (R1043C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217459	NM_000254.3(MTR):c.3127G>A (p.Asp1043Asn)	MTR (D636N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217458	NM_000254.3(MTR):c.2957G>C (p.Gly986Ala)	MTR (G579A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217404	NM_000254.3(MTR):c.1780A>G (p.Met594Val)	MTR (M594V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217396	NM_000254.3(MTR):c.1430G>A (p.Gly477Glu)	MTR (G477E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217392	NM_000254.3(MTR):c.1327A>G (p.Lys443Glu)	MTR (K443E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217387	NM_000254.3(MTR):c.1141G>T (p.Ala381Ser)	MTR (A381S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065323	NM_000254.3(MTR):c.2406-1G>A	MTR	Single nucleotide variant (splice acceptor variant +1 more)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 3064022	NM_000254.3(MTR):c.2044-1G>T	MTR	Single nucleotide variant (intron variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
Select item 3058437	NM_000254.3(MTR):c.2044-9C>G	MTR	Single nucleotide variant (intron variant)	MTR-related disorder	GLikely benign
Select item 3045511	NM_000254.3(MTR):c.129G>T (p.Arg43=)	MTR	Single nucleotide variant (synonymous variant +1 more)	MTR-related disorder	GLikely benign
Select item 3023464	NM_000254.3(MTR):c.1076-19A>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
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 3022373	NM_000254.3(MTR):c.1516-15dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 3022069	NM_000254.3(MTR):c.2197-5C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3021907	NM_000254.3(MTR):c.2196+17G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3021115	NM_000254.3(MTR):c.2676+19A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3021103	NM_000254.3(MTR):c.3174C>T (p.Pro1058=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3020970	NM_000254.3(MTR):c.3327G>A (p.Glu1109=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3020917	NM_000254.3(MTR):c.1516-5C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3020425	NM_000254.3(MTR):c.1701A>G (p.Thr567=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3019620	NM_000254.3(MTR):c.3699T>A (p.Ile1233=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3019231	NM_000254.3(MTR):c.927+11C>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3019005	NM_000254.3(MTR):c.2076G>A (p.Glu692=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3018689	NM_000254.3(MTR):c.3727T>C (p.Leu1243=)	MTR	Single nucleotide variant (synonymous variant)	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 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 3016640	NM_000254.3(MTR):c.3295C>T (p.Leu1099=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3016406	NM_000254.3(MTR):c.765-4C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3015503	NM_000254.3(MTR):c.2190A>G (p.Leu730=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
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 3015247	NM_000254.3(MTR):c.3205-13C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3015094	NM_000254.3(MTR):c.2677-15A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014856	NM_000254.3(MTR):c.765-12C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014849	NM_000254.3(MTR):c.1695+20C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014687	NM_000254.3(MTR):c.2852-13T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014686	NM_000254.3(MTR):c.3205-12C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014323	NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)	MTR (R348fs +2 more)	Microsatellite (frameshift variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3014308	NM_000254.3(MTR):c.1518A>C (p.Ala506=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3013598	NM_000254.3(MTR):c.2727C>A (p.Ile909=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3013363	NM_000254.3(MTR):c.670-11T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3013354	NM_000254.3(MTR):c.1515+14T>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3012941	NM_000254.3(MTR):c.865+10T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3012853	NM_000254.3(MTR):c.3008-19_3008-14del	MTR	Microsatellite (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3012508	NM_000254.3(MTR):c.327C>T (p.Gly109=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3011237	NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)	MTR (Q511* +3 more)	Single nucleotide variant (nonsense)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3011028	NM_000254.3(MTR):c.2967G>A (p.Pro989=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3009893	NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)	MTR (D376N +2 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3008707	NM_000254.3(MTR):c.2787C>T (p.Tyr929=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3008260	NM_000254.3(MTR):c.3519G>A (p.Pro1173=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3007887	NM_000254.3(MTR):c.2405+20C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3007486	NM_000254.3(MTR):c.1404T>C (p.Ile468=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3006737	NM_000254.3(MTR):c.3406-4C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3006166	NM_000254.3(MTR):c.250-15A>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3005772	NM_000254.3(MTR):c.1189-7C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3005329	NM_000254.3(MTR):c.2852-17A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3004601	NM_000254.3(MTR):c.34+15C>T	MTR, LOC129932886	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3004595	NM_000254.3(MTR):c.1953+19T>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3002305	NM_000254.3(MTR):c.2776-6dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 3002217	NM_000254.3(MTR):c.2139del (p.Met713fs)	MTR (M713fs +1 more)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3000438	NM_000254.3(MTR):c.3414A>G (p.Ala1138=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2999566	NM_000254.3(MTR):c.670-20T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2997030	NM_000254.3(MTR):c.865+18dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 2996971	NM_000254.3(MTR):c.2805C>T (p.Ala935=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign

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