Cowaxanthone B - ClinVar - NCBI

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The following term was not found in ClinVar: Cowaxanthone.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 3341337	NM_198576.4(AGRN):c.1555G>T (p.Ala519Ser)	AGRN (A414S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 541162	NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)	AGRN (T1882I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3236609	NM_017871.6(INTS11):c.936dup (p.Ala313fs)	INTS11 (A212fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GLikely pathogenic
Select item 1699457	NM_001330311.2(DVL1):c.691G>C (p.Ala231Pro)	DVL1 (A231P)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2	GUncertain significance
Select item 161193	NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter)	TMEM240 (Y163*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 21	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 1035726	NM_003036.4(SKI):c.985C>T (p.Pro329Ser)	SKI (P329S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1805463	NM_003036.4(SKI):c.1138C>T (p.Arg380Ter)	SKI (R380*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 626168	NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	SKI (A579T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1651066	NM_002617.4(PEX10):c.980G>A (p.Ter327=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2752346	NM_002617.4(PEX10):c.978C>G (p.Arg326=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 296272	NM_002617.4(PEX10):c.977G>A (p.Arg326His)	PEX10 (R346H +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 2147514	NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)	PEX10 (R326S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 2141745	NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)	PEX10 (R182C +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2202598	NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)	PEX10 (R179P +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 500751	NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)	PEX10 (R343W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1087996	NM_002617.4(PEX10):c.963C>T (p.Tyr321=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1448457	NM_002617.4(PEX10):c.960C>G (p.Ile320Met)	PEX10 (I195M +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 1360381	NM_002617.4(PEX10):c.959T>C (p.Ile320Thr)	PEX10 (I195T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1638712	NM_002617.4(PEX10):c.957C>T (p.Leu319=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1418768	NM_002617.4(PEX10):c.953A>G (p.Lys318Arg)	PEX10 (K318R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1349056	NM_002617.4(PEX10):c.952A>G (p.Lys318Glu)	PEX10 (K193E +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1059766	NM_002617.4(PEX10):c.946C>T (p.Pro316Ser)	PEX10 (P172S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2709931	NM_002617.4(PEX10):c.945T>C (p.Pro315=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1434831	NM_002617.4(PEX10):c.944C>G (p.Pro315Arg)	PEX10 (P315R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2416247	NM_002617.4(PEX10):c.942C>T (p.Phe314=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1366109	NM_002617.4(PEX10):c.940T>C (p.Phe314Leu)	PEX10 (F314L +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 3006174	NM_002617.4(PEX10):c.933G>A (p.Arg311=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 162433	NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	PEX10 (R331Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1471815	NM_002617.4(PEX10):c.931C>G (p.Arg311Gly)	PEX10 (R186G +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 964391	NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)	PEX10 (R311W +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2150837	NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)	PEX10 (C310Y +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1926541	NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)	PEX10 (C310R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1442986	NM_002617.4(PEX10):c.926T>A (p.Leu309His)	PEX10 (L184H +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2034381	NM_002617.4(PEX10):c.924C>T (p.Pro308=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1661359	NM_002617.4(PEX10):c.924C>A (p.Pro308=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1464238	NM_002617.4(PEX10):c.922C>T (p.Pro308Ser)	PEX10 (P164S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1515381	NM_002617.4(PEX10):c.919T>C (p.Cys307Arg)	PEX10 (C163R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1083080	NM_002617.4(PEX10):c.918G>A (p.Glu306=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1465507	NM_002617.4(PEX10):c.916del (p.Glu306fs)	PEX10 (E162fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely pathogenic
Select item 286858	NM_002617.4(PEX10):c.915G>A (p.Ala305=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2151662	NM_002617.4(PEX10):c.914C>T (p.Ala305Val)	PEX10 (A305V +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1521300	NM_002617.4(PEX10):c.913G>A (p.Ala305Thr)	PEX10 (A325T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 555812	NM_002617.4(PEX10):c.913-2A>C	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 597492	NM_002617.4(PEX10):c.913-3C>T	PEX10	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 262791	NM_002617.4(PEX10):c.913-4G>A	PEX10	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1137726	NM_002617.4(PEX10):c.913-5C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 991788	NM_002617.4(PEX10):c.913-9T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2414453	NM_002617.4(PEX10):c.913-11C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2988475	NM_002617.4(PEX10):c.913-15_913-14del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2170651	NM_002617.4(PEX10):c.913-14T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1625206	NM_002617.4(PEX10):c.913-15T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1560237	NM_002617.4(PEX10):c.913-16T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1537274	NM_002617.4(PEX10):c.913-17_913-16del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2170652	NM_002617.4(PEX10):c.913-17del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GBenign
Select item 1896696	NM_002617.4(PEX10):c.913-17C>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2754577	NM_002617.4(PEX10):c.913-19C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2711670	NM_002617.4(PEX10):c.913-20C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2806013	NM_002617.4(PEX10):c.912+20C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2793043	NM_002617.4(PEX10):c.912+19G>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1566066	NM_002617.4(PEX10):c.912+18T>C	PEX10	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1620259	NM_002617.4(PEX10):c.912+17C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1665608	NM_002617.4(PEX10):c.912+14C>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1462121	NM_002617.4(PEX10):c.912+13C>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1540900	NM_002617.4(PEX10):c.912+10del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1953096	NM_002617.4(PEX10):c.912+8G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 554342	NM_002617.4(PEX10):c.912+1G>C	PEX10	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2142608	NM_002617.4(PEX10):c.911A>G (p.Lys304Arg)	PEX10 (K179R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2789425	NM_002617.4(PEX10):c.909C>T (p.Ser303=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2050570	NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)	PEX10	Insertion (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1410888	NM_002617.4(PEX10):c.908G>C (p.Ser303Thr)	PEX10 (S322T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2157391	NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)	PEX10 (S177N +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2769407	NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)	PEX10	Deletion (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2781765	NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)	PEX10 (W156* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1094404	NM_002617.4(PEX10):c.897G>A (p.Ala299=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 283862	NM_002617.4(PEX10):c.896C>T (p.Ala299Val)	PEX10 (A319V +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 1029463	NM_002617.4(PEX10):c.895G>A (p.Ala299Thr)	PEX10 (A155T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 788258	NM_002617.4(PEX10):c.894C>T (p.Thr298=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1583493	NM_002617.4(PEX10):c.888C>T (p.Cys296=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2759523	NM_002617.4(PEX10):c.887del (p.Cys296fs)	PEX10 (C152fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1941113	NM_002617.4(PEX10):c.885G>A (p.Glu295=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2094184	NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)	PEX10 (W150C +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2893573	NM_002617.4(PEX10):c.858_870del (p.Pro287fs)	PEX10 (P162fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 2429314	NM_002617.4(PEX10):c.868dup (p.His290fs)	PEX10 (H146fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 552930	NM_002617.4(PEX10):c.868C>G (p.His290Asp)	PEX10 (H310D +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 1153838	NM_002617.4(PEX10):c.867C>T (p.Gly289=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 874476	NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)	PEX10 (G289S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 749376	NM_002617.4(PEX10):c.864C>T (p.Cys288=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GBenign
Select item 1097790	NM_002617.4(PEX10):c.861C>T (p.Pro287=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 744503	NM_002617.4(PEX10):c.858G>A (p.Thr286=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 939299	NM_002617.4(PEX10):c.857C>T (p.Thr286Met)	PEX10 (T142M +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2864768	NM_002617.4(PEX10):c.855C>T (p.Ala285=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign

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