ClinVar for Gene (Select 1120) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247049	NC_000022.10:g.(?_51020158)_(51065854_?)del	ARSA, CHKB +1 more	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3144376	NM_005198.5(CHKB):c.209G>C (p.Arg70Thr)	CHKB, CHKB-CPT1B (R70T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144374	NM_005198.5(CHKB):c.1133T>A (p.Phe378Tyr)	CHKB, CHKB-CPT1B (F378Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062464	GRCh37/hg19 22q13.33(chr22:50974309-51197838)x3	ACR, ARSA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 3005299	NM_005198.5(CHKB):c.504C>T (p.Ala168=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 3003959	NM_005198.5(CHKB):c.736+11G>A	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2986792	NM_005198.5(CHKB):c.224+11A>G	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2975974	NM_005198.5(CHKB):c.225-1_225delinsTT	CHKB, CHKB-CPT1B +1 more	Indel (splice acceptor variant)	Megaconial type congenital muscular dystrophy	GLikely pathogenic
Select item 2972148	NM_005198.5(CHKB):c.333+19C>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2916859	NM_005198.5(CHKB):c.678-16T>A	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2911368	NM_005198.5(CHKB):c.834G>A (p.Gly278=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2897004	NM_005198.5(CHKB):c.225-16T>C	CHKB, CHKB-CPT1B +1 more	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2893374	NM_005198.5(CHKB):c.21T>A (p.Ala7=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2889170	NM_005198.5(CHKB):c.1032-20T>C	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2887323	NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)	CHKB, CHKB-CPT1B (Q111*)	Single nucleotide variant (nonsense +1 more)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2886936	NM_005198.5(CHKB):c.1179C>G (p.Ser393=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2877370	NM_005198.5(CHKB):c.737-5C>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2868948	NM_005198.5(CHKB):c.818+7C>T	CHKB-CPT1B, CHKB	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2863302	NM_005198.5(CHKB):c.224+1G>A	CHKB, CHKB-CPT1B	Single nucleotide variant (splice donor variant)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2859833	NM_005198.5(CHKB):c.447+20C>G	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2849953	NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)	CHKB, CHKB-CPT1B (R63*)	Single nucleotide variant (nonsense +1 more)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2840850	NM_005198.5(CHKB):c.446del (p.Pro149fs)	CHKB, CHKB-CPT1B (P149fs)	Deletion (frameshift variant +1 more)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2803943	NM_005198.5(CHKB):c.165G>A (p.Glu55=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2799549	NM_005198.5(CHKB):c.9C>T (p.Ala3=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2766178	NM_005198.5(CHKB):c.556del (p.His186fs)	CHKB, CHKB-CPT1B (H186fs)	Deletion (frameshift variant +1 more)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2765810	NM_005198.5(CHKB):c.536del (p.Met179fs)	CHKB, CHKB-CPT1B (M179fs)	Deletion (frameshift variant +1 more)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2763984	NM_005198.5(CHKB):c.927+9G>C	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2754393	NM_005198.5(CHKB):c.333+18G>A	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2741240	NM_005198.5(CHKB):c.744C>A (p.Ile248=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2737706	NM_005198.5(CHKB):c.75G>A (p.Gln25=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2734036	NM_005198.5(CHKB):c.677+18A>G	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2716256	NM_005198.5(CHKB):c.519A>G (p.Gln173=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2713599	NM_005198.5(CHKB):c.333+13T>C	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2712519	NM_005198.5(CHKB):c.334-17T>C	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2711681	NM_005198.5(CHKB):c.444C>A (p.Ile148=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2698630	NM_005198.5(CHKB):c.753C>G (p.Leu251=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2688775	NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del)	CHKB, CHKB-CPT1B (E336del)	Microsatellite (inframe_indel +2 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684943	GRCh37/hg19 22q13.33(chr22:50797048-51044946)x3	ADM2, CHKB +12 more	Copy number gain	not provided	GUncertain significance
Select item 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	PANX2, PARVB +71 more	Copy number loss	not provided	GPathogenic
Select item 2634957	NM_005198.5(CHKB):c.447+4C>T	CHKB-CPT1B, CHKB	Single nucleotide variant (intron variant)	CHKB-related disorder	GUncertain significance
Select item 2613948	NM_005198.5(CHKB):c.1147C>G (p.Gln383Glu)	CHKB, CHKB-CPT1B (Q383E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605831	NM_005198.5(CHKB):c.274C>T (p.Pro92Ser)	CHKB, CHKB-CPT1B (P92S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585211	NM_005198.5(CHKB):c.1032-2A>T	CHKB, CHKB-CPT1B	Single nucleotide variant (splice acceptor variant)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2525701	NM_005198.5(CHKB):c.116C>T (p.Ser39Leu)	CHKB, CHKB-CPT1B (S39L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496024	NM_005198.5(CHKB):c.272T>A (p.Leu91Gln)	CHKB, CHKB-CPT1B (L91Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429460	NM_005198.5(CHKB):c.539C>G (p.Pro180Arg)	CHKB-CPT1B, CHKB (P180R)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2429459	NM_005198.5(CHKB):c.392T>C (p.Leu131Pro)	CHKB-CPT1B, CHKB (L131P)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2429458	NM_005198.5(CHKB):c.844dup (p.Cys282fs)	CHKB, CHKB-CPT1B (C282fs)	Duplication (frameshift variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely pathogenic
Select item 2429457	NM_005198.5(CHKB):c.678-1G>C	CHKB, CHKB-CPT1B	Single nucleotide variant (splice acceptor variant)	Megaconial type congenital muscular dystrophy	GLikely pathogenic
Select item 2425317	NC_000022.10:g.(?_51017610)_(51021210_?)del	CHKB	Deletion	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	ADM2, ALG12 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	ADM2, ALG12 +31 more	Deletion	not provided	GPathogenic
Select item 2413922	NM_005198.5(CHKB):c.453G>A (p.Arg151=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2340163	NM_005198.5(CHKB):c.484G>A (p.Val162Met)	CHKB, CHKB-CPT1B (V162M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331207	NM_005198.5(CHKB):c.137A>C (p.Glu46Ala)	CHKB, CHKB-CPT1B (E46A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331205	NM_005198.5(CHKB):c.131A>C (p.Asp44Ala)	CHKB, CHKB-CPT1B (D44A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244332	NM_005198.5(CHKB):c.783G>C (p.Met261Ile)	CHKB, CHKB-CPT1B (M261I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229220	NM_005198.5(CHKB):c.260T>C (p.Leu87Pro)	CHKB, CHKB-CPT1B (L87P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198417	NM_005198.5(CHKB):c.873G>T (p.Glu291Asp)	CHKB, CHKB-CPT1B (E291D)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2196472	NM_005198.5(CHKB):c.1012T>G (p.Leu338Val)	CHKB, CHKB-CPT1B (L338V)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2174879	NM_005198.5(CHKB):c.323C>T (p.Ala108Val)	CHKB, CHKB-CPT1B (A108V)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2172829	NM_005198.5(CHKB):c.1031+14G>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2166544	NM_005198.5(CHKB):c.649A>G (p.Ser217Gly)	CHKB, CHKB-CPT1B (S217G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2165925	NM_005198.5(CHKB):c.677+1G>C	CHKB, CHKB-CPT1B	Single nucleotide variant (splice donor variant)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2163658	NM_005198.5(CHKB):c.990G>A (p.Glu330=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2155498	NM_005198.5(CHKB):c.336C>T (p.Gly112=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2154262	NM_005198.5(CHKB):c.437A>G (p.Gln146Arg)	CHKB, CHKB-CPT1B (Q146R)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2153611	NM_005198.5(CHKB):c.475C>A (p.Arg159=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2152435	NM_005198.5(CHKB):c.677+11del	CHKB, CHKB-CPT1B	Deletion (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2148314	NM_005198.5(CHKB):c.447+9C>G	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2148054	NM_005198.5(CHKB):c.240C>T (p.Asn80=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2147198	NM_005198.5(CHKB):c.1080G>A (p.Gln360=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2144934	NM_005198.5(CHKB):c.704C>G (p.Pro235Arg)	CHKB, CHKB-CPT1B (P235R)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2138926	NM_005198.5(CHKB):c.928-7A>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2122574	NM_005198.5(CHKB):c.1032-3dup	CHKB, CHKB-CPT1B	Duplication (intron variant)	Megaconial type congenital muscular dystrophy	GBenign
Select item 2121988	NM_005198.5(CHKB):c.882T>C (p.Pro294=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2113550	NM_005198.5(CHKB):c.1107T>G (p.Gly369=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2105623	NM_005198.5(CHKB):c.450T>G (p.Ser150Arg)	CHKB, CHKB-CPT1B (S150R)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2101239	NM_005198.5(CHKB):c.1169G>A (p.Ser390Asn)	CHKB, CHKB-CPT1B (S390N)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2098656	NM_005198.5(CHKB):c.939del (p.Arg314fs)	CHKB, CHKB-CPT1B (R314fs)	Deletion (frameshift variant +1 more)	Megaconial type congenital muscular dystrophy	GPathogenic
Select item 2074181	NM_005198.5(CHKB):c.819-8T>G	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2072344	NM_005198.5(CHKB):c.86C>T (p.Pro29Leu)	CHKB, CHKB-CPT1B (P29L)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2067110	NM_005198.5(CHKB):c.818+11A>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2064997	NM_005198.5(CHKB):c.950T>A (p.Leu317Gln)	CHKB, CHKB-CPT1B (L317Q)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2058181	NM_005198.5(CHKB):c.1157G>A (p.Gly386Glu)	CHKB, CHKB-CPT1B (G386E)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 2057048	NM_005198.5(CHKB):c.822C>T (p.Gly274=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy	GLikely benign
Select item 2055262	NM_005198.5(CHKB):c.1032-10C>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GLikely benign

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