C0027672[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183795	NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	SDHB (C253Y)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GPathogenic/Likely pathogenic
Select item 239443	NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)	SDHB (R242S)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GPathogenic
Select item 183735	NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	SDHB (R217C)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GPathogenic/Likely pathogenic
Select item 239434	NM_003000.3(SDHB):c.606C>T (p.Asn202=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +4 more	GLikely benign
Select item 417302	NM_003000.3(SDHB):c.543C>T (p.Asp181=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +4 more	GLikely benign
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GConflicting classifications of pathogenicity
Select item 44644	NM_003000.2(SDHB):c.424-16_424-14dup	SDHB	Microsatellite (intron variant)	Paragangliomas 4 +7 more	GConflicting classifications of pathogenicity
Select item 36770	NM_003000.3(SDHB):c.424-37TTC[10]	SDHB	Microsatellite (intron variant)	Paragangliomas 4 +7 more	GBenign/Likely benign
Select item 18454	NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	SDHB (V140F)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 183814	NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	SDHB (I127S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +8 more	GBenign/Likely benign
Select item 459138	NM_003000.3(SDHB):c.172A>G (p.Met58Val)	SDHB (M58V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 135192	NM_003000.3(SDHB):c.170A>G (p.His57Arg)	SDHB (H57R)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +7 more	GBenign/Likely benign
Select item 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 183793	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB (R46Q)	Single nucleotide variant (missense variant)	Paragangliomas 4 +7 more	GPathogenic/Likely pathogenic
Select item 142763	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB (R46*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +6 more	GPathogenic
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 183749	NM_003000.3(SDHB):c.21C>T (p.Leu7=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +7 more	GConflicting classifications of pathogenicity
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +8 more	GBenign
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +8 more	GBenign/Likely benign
Select item 428932	NM_003000.3(SDHB):c.3G>A (p.Met1Ile)	SDHB (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 4 +5 more	GPathogenic
Select item 923209	NM_001048174.2(MUTYH):c.*19T>C	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 631444	NM_001048174.2(MUTYH):c.*17del	MUTYH	Deletion (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 627723	NM_001048174.2(MUTYH):c.*15C>T	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 925382	NM_001048174.2(MUTYH):c.*7T>A	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 406862	NM_001048174.2(MUTYH):c.1561C>T (p.Gln521Ter)	MUTYH (Q549* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 127843	NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)	MUTYH (A520fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 926454	NM_001048174.2(MUTYH):c.1555G>A (p.Ala519Thr)	MUTYH (A427T +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 926388	NM_001048174.2(MUTYH):c.1554T>C (p.Ser518=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 533307	NM_001048174.2(MUTYH):c.1554T>G (p.Ser518Arg)	MUTYH (S546R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2773675	NM_001048174.2(MUTYH):c.1550A>T (p.Asn517Ile)	MUTYH (N402I +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490035	NM_001048174.2(MUTYH):c.1540C>T (p.His514Tyr)	MUTYH (H542Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185177	NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)	MUTYH (A541V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 919530	NM_001048174.2(MUTYH):c.1537del (p.Ala513fs)	MUTYH (A398fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 492027	NM_001048174.2(MUTYH):c.1534G>A (p.Asp512Asn)	MUTYH (D540N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184193	NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 418929	NM_001048174.2(MUTYH):c.1531A>G (p.Thr511Ala)	MUTYH (T539A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 479985	NM_001048174.2(MUTYH):c.1525A>G (p.Ile509Val)	MUTYH (I537V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 923656	NM_001048174.2(MUTYH):c.1522C>T (p.His508Tyr)	MUTYH (H508Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 184712	NM_001048174.2(MUTYH):c.1516C>A (p.Arg506=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 127842	NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)	MUTYH (R534W +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 584584	NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu)	MUTYH (F533L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 492026	NM_001048174.2(MUTYH):c.1512C>T (p.Phe504=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 231635	NM_001048174.2(MUTYH):c.1512C>A (p.Phe504Leu)	MUTYH (F532L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 630872	NM_001048174.2(MUTYH):c.1507_1509del (p.Asn503del)	MUTYH (N388del +7 more)	Deletion (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 231253	NM_001048174.2(MUTYH):c.1509T>C (p.Asn503=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 186948	NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His)	MUTYH (D530H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182685	NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)	MUTYH (D530Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 1332084	NM_001048174.2(MUTYH):c.1488G>C (p.Met496Ile)	MUTYH (M381I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819558	NM_001048174.2(MUTYH):c.1488G>A (p.Met496Ile)	MUTYH (M381I +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 492024	NM_001048174.2(MUTYH):c.1486A>C (p.Met496Leu)	MUTYH (M524L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 188079	NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val)	MUTYH (M524V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127833	NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu)	MUTYH (M524L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 923657	NM_001048174.2(MUTYH):c.1485C>A (p.Arg495=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 464702	NM_001048174.2(MUTYH):c.1484G>A (p.Arg495His)	MUTYH (R523H +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185573	NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)	MUTYH (R523C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 490034	NM_001048174.2(MUTYH):c.1481C>T (p.Pro494Leu)	MUTYH (P522L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1392269	NM_001048174.2(MUTYH):c.1480C>T (p.Pro494Ser)	MUTYH (P509S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127841	NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)	MUTYH (R519Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 230406	NM_001048174.2(MUTYH):c.1471C>A (p.Arg491=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 187354	NM_001048174.2(MUTYH):c.1471C>T (p.Arg491Trp)	MUTYH (R519W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 184566	NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134867	NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)	MUTYH (P516L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 492022	NM_001048174.2(MUTYH):c.1462C>A (p.Pro488Thr)	MUTYH (P516T +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign/Likely benign
Select item 464701	NM_001048174.2(MUTYH):c.1458C>T (p.Ser486=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 927258	NM_001048174.2(MUTYH):c.1454T>A (p.Val485Glu)	MUTYH (V393E +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 630418	NM_001048174.2(MUTYH):c.1453G>A (p.Val485Met)	MUTYH (V513M +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 238340	NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu)	MUTYH (V513L +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 921710	NM_001048174.2(MUTYH):c.1450C>G (p.Gln484Glu)	MUTYH (Q369E +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 483928	NM_001048174.2(MUTYH):c.1448C>T (p.Ser483Phe)	MUTYH (S511F +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 183791	NM_001048174.2(MUTYH):c.1446G>A (p.Arg482=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 836484	NM_001048174.2(MUTYH):c.1441A>G (p.Lys481Glu)	MUTYH (K366E +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 918817	NM_001048174.2(MUTYH):c.1435-4A>G	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1144710	NM_001048174.2(MUTYH):c.1435-7T>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 557662	NM_001048174.2(MUTYH):c.1435-9T>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 419293	NM_001048174.2(MUTYH):c.1435-11T>G	MUTYH	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 492021	NM_001048174.2(MUTYH):c.1435-13C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 922921	NM_001048174.2(MUTYH):c.1435-16_1435-14del	MUTYH	Deletion (intron variant)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 378186	NM_001048174.2(MUTYH):c.1435-14C>G	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 922969	NM_001048174.2(MUTYH):c.1434+17T>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 629210	NM_001048174.2(MUTYH):c.1434+7C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229995	NM_001048174.2(MUTYH):c.1434+4A>G	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 2773676	NM_001048174.2(MUTYH):c.1434+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 231877	NM_001048174.2(MUTYH):c.1434+1G>T	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 419117	NM_001048174.2(MUTYH):c.1430G>A (p.Cys477Tyr)	MUTYH (C505Y +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 238339	NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)	MUTYH (C505G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 628977	NM_001048174.2(MUTYH):c.1428C>T (p.Thr476=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 919693	NM_001048174.2(MUTYH):c.1425G>A (p.Gly475=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +6 more	GConflicting classifications of pathogenicity
Select item 627803	NM_001048174.2(MUTYH):c.1423G>T (p.Gly475Trp)	MUTYH (G503W +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 819395	NM_001048174.2(MUTYH):c.1418A>G (p.Gln473Arg)	MUTYH (Q498R +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 620207	NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)	MUTYH (Q501* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 483930	NM_001048174.2(MUTYH):c.1411G>A (p.Gly471Ser)	MUTYH (G499S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2773677	NM_001048174.2(MUTYH):c.1410G>A (p.Gln470=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142884	NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His)	MUTYH (Q498H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 127840	NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)	MUTYH (Q498R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 921324	NM_001048174.2(MUTYH):c.1406_1407delinsGGCCCATA (p.Tyr469delinsTrpProIle)	MUTYH	Indel (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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