KMO[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 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +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	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 57848	GRCh38/hg38 1q43(chr1:240553438-242475553)x3	BECN2, CHML +29 more	Copy number gain	See cases	GUncertain significance
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 57849	GRCh38/hg38 1q43(chr1:241358731-241676967)x3	CHML, FH +5 more	Copy number gain	See cases	GUncertain significance
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 3115953	NM_003679.5(KMO):c.14T>C (p.Val5Ala)	KMO (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349595	NM_003679.5(KMO):c.40A>G (p.Ile14Val)	KMO (I14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115951	NM_003679.5(KMO):c.119G>C (p.Arg40Thr)	KMO (R40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307311	NM_003679.5(KMO):c.445C>G (p.Leu149Val)	KMO (L149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289113	NM_003679.5(KMO):c.490G>T (p.Val164Leu)	KMO (V164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497696	NM_003679.5(KMO):c.583_601del (p.Met195fs)	KMO (M195fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 721466	NM_003679.5(KMO):c.598C>T (p.Pro200Ser)	KMO (P200S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3115955	NM_003679.5(KMO):c.616T>C (p.Tyr206His)	KMO (Y206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115956	NM_003679.5(KMO):c.635A>G (p.Tyr212Cys)	KMO (Y212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033753	NM_003679.5(KMO):c.701C>T (p.Thr234Ile)	KMO (T234I)	Single nucleotide variant (missense variant)	KMO-related disorder	GLikely benign
Select item 3115957	NM_003679.5(KMO):c.712T>C (p.Phe238Leu)	KMO (F238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289115	NM_003679.5(KMO):c.760G>A (p.Val254Ile)	KMO (V254I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 744425	NM_003679.5(KMO):c.785C>T (p.Pro262Leu)	KMO (P262L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771693	NM_003679.5(KMO):c.786G>A (p.Pro262=)	KMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2616699	NM_003679.5(KMO):c.862G>A (p.Val288Ile)	KMO (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115958	NM_003679.5(KMO):c.898G>C (p.Val300Leu)	KMO (V300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388387	NM_003679.5(KMO):c.932C>T (p.Pro311Leu)	KMO (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773477	NM_003679.5(KMO):c.957+9T>A	KMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3289114	NM_003679.5(KMO):c.1078T>C (p.Ser360Pro)	KMO (S360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115950	NM_003679.5(KMO):c.1094T>C (p.Ile365Thr)	KMO (I365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255337	NM_003679.5(KMO):c.1211C>G (p.Ser404Cys)	KMO (S391C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223656	NM_003679.5(KMO):c.1238A>G (p.Gln413Arg)	KMO (Q413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115952	NM_003679.5(KMO):c.1271A>G (p.Lys424Arg)	KMO (K424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607441	NM_003679.5(KMO):c.1321C>T (p.Leu441Phe)	KMO (L428F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273365	NM_003679.5(KMO):c.1331A>G (p.Tyr444Cys)	KMO (Y431C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468990	NM_003679.5(KMO):c.1390C>T (p.Arg464Trp)	KMO (R451W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302342	NM_014322.3(OPN3):c.1051G>C (p.Val351Leu)	KMO, OPN3 (V351L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640207	NM_014322.3(OPN3):c.950G>A (p.Arg317Gln)	KMO, OPN3 (R317Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	ADSS2, AKT3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062677	GRCh37/hg19 1q43(chr1:239786185-242208644)x1	CHML, CHRM3 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685841	GRCh37/hg19 1q43(chr1:240939595-241740770)x3	FH, KMO +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2427727	NC_000001.10:g.(?_241661128)_(244218672_?)del	AKT3, CEP170 +10 more	Deletion	not provided	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809288	GRCh37/hg19 1q43(chr1:241094653-242087176)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1705941	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CHML, WDR64 +8 more	Copy number gain	Autism	GUncertain significance
Select item 1527703	GRCh37/hg19 1q43(chr1:241180373-242090901)	CHML, EXO1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1341309	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	not provided	GUncertain significance
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	ADSS2, AHCTF1 +31 more	Copy number loss	Global developmental delay +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979945	GRCh37/hg19 1q43(chr1:241496526-241885359)x3	RGS7, WDR64 +4 more	Copy number gain	not provided	GLikely benign
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 832829	NC_000001.10:g.(?_241661128)_(242034263_?)dup	CHML, EXO1 +4 more	Duplication	Fumarase deficiency	GUncertain significance
Select item 831850	NC_000001.10:g.(?_241661128)_(242034263_?)del	CHML, EXO1 +4 more	Deletion	Fumarase deficiency	GPathogenic
Select item 831714	NC_000001.10:g.(?_241661108)_(242431558_?)del	CHML, EXO1 +6 more	Deletion	Fumarase deficiency	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814188	GRCh37/hg19 1q43(chr1:241680265-241929583)x3	WDR64, OPN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 689438	Single allele	CHML, CHRM3 +12 more	Deletion	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687610	GRCh37/hg19 1q43(chr1:241499877-241885359)x3	CHML, FH +4 more	Copy number gain	not provided	GUncertain significance
Select item 686603	GRCh37/hg19 1q43(chr1:241106058-242088336)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685489	GRCh37/hg19 1q43(chr1:241661303-241752434)x3	FH, KMO	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 635893	Single allele	AKT3, CEP170 +13 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565240	GRCh37/hg19 1q43(chr1:240958055-243698867)x3	AKT3, CEP170 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic

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