C1959620[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555831	NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs)	DPYD (Y1011fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 552960	NM_000110.4(DPYD):c.2908-1G>A	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 551659	NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu)	DPYD (K958E)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 88974	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	DPYD (D949V)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 558312	NM_000110.4(DPYD):c.2822T>C (p.Val941Ala)	DPYD (V941A)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 100071	NM_000110.4(DPYD):c.2766+19A>G	DPYD-AS1, DPYD	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely benign
Select item 370956	NM_000110.4(DPYD):c.2754del (p.Pro919fs)	DPYD, DPYD-AS1 (P919fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371384	NM_000110.4(DPYD):c.2748del (p.Arg916fs)	DPYD, DPYD-AS1 (R916fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 550624	NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter)	DPYD, DPYD-AS1 (K908*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370928	NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter)	DPYD, DPYD-AS1 (K894*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 437	NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	DPYD, DPYD-AS1 (R886H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 371215	NM_000110.4(DPYD):c.2622+1G>A	DPYD, DPYD-AS1	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371510	NM_000110.4(DPYD):c.2589dup (p.Pro864fs)	DPYD, DPYD-AS1 (P864fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 551707	NM_000110.4(DPYD):c.2579del (p.Gln860fs)	DPYD, DPYD-AS1 (Q860fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371437	NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter)	DPYD, DPYD-AS1 (Q852*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 558527	NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)	DPYD, DPYD-AS1 (T793I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 370465	NM_000110.4(DPYD):c.2335_2338delinsGC (p.Thr779fs)	DPYD, DPYD-AS1 (T779fs)	Indel (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 287480	NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	DPYD, DPYD-AS1 (T768K)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 370868	NM_000110.4(DPYD):c.2286_2287insA (p.Gly763fs)	DPYD, DPYD-AS1 (G763fs)	Insertion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 73995	NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln)	DPYD-AS1, DPYD (R759Q)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 370760	NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	DPYD, DPYD-AS1 (R759*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 554975	NM_000110.4(DPYD):c.2177_2179+1del	DPYD, DPYD-AS1	Microsatellite (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 551164	NM_000110.4(DPYD):c.2178del (p.Gly727fs)	DPYD, DPYD-AS1 (G727fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 551004	NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly)	DPYD, DPYD-AS1 (A723G)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 370923	NM_000110.4(DPYD):c.2058+1G>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 188871	NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)	DPYD (L682fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 371596	NM_000110.4(DPYD):c.2039dup (p.Met680fs)	DPYD (M680fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371160	NM_000110.4(DPYD):c.2003del (p.Asn668fs)	DPYD (N668fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370712	NM_000110.4(DPYD):c.1970del (p.Ser657fs)	DPYD (S657fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response
Select item 370307	NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)	DPYD (W621*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 370668	NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter)	DPYD (E611*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 550673	NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)	DPYD (M599T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554703	NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln)	DPYD (R592Q)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 370256	NM_000110.4(DPYD):c.1727del (p.Phe576fs)	DPYD (F576fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371053	NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	DPYD (R561*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 88975	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	DPYD (I560S)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 371114	NM_000110.4(DPYD):c.1671del (p.Ser558fs)	DPYD (S558fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 298287	NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)	DPYD (A551T)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 100095	NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser)	DPYD (P519S)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 558310	NM_000110.4(DPYD):c.1538C>T (p.Ala513Val)	DPYD (A513V)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 100096	NM_000110.4(DPYD):c.1524+16C>A	DPYD	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 371253	NM_000110.4(DPYD):c.1524+1G>A	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370593	NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer)	DPYD	Deletion (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 298293	NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)	DPYD (S492L)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 371469	NM_000110.4(DPYD):c.1379dup (p.Leu461fs)	DPYD (L461fs)	Duplication (frameshift variant)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
Select item 370715	NM_000110.4(DPYD):c.1340-2A>G	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370261	NM_000110.4(DPYD):c.1339+1G>T	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370780	NM_000110.4(DPYD):c.1316del (p.Gly439fs)	DPYD (G439fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371335	NM_000110.4(DPYD):c.1311del (p.Phe438fs)	DPYD (F438fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 557959	NM_000110.4(DPYD):c.1178del (p.Pro393fs)	DPYD (P393fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 553633	NM_000110.4(DPYD):c.1121del (p.Pro374fs)	DPYD (P374fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370309	NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	DPYD (I370fs)	Microsatellite (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 552935	NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)	DPYD (I370V)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 551494	NM_000110.4(DPYD):c.1070G>A (p.Arg357His)	DPYD (R357H)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 558704	NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs)	DPYD (A348fs)	Microsatellite (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 550741	NM_000110.4(DPYD):c.1024G>A (p.Asp342Asn)	DPYD (D342N)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 370713	NM_000110.4(DPYD):c.910del (p.Tyr304fs)	DPYD (Y304fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370698	NM_000110.4(DPYD):c.851-1G>C	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 552475	NM_000110.4(DPYD):c.763-2A>G	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371177	NM_000110.4(DPYD):c.762+2T>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 555616	NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)	DPYD (R235Q)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 371334	NM_000110.4(DPYD):c.680+1G>A	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370661	NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)	DPYD (E221*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 554571	NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)	DPYD (Y211C)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 100113	NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	DPYD (Y186C)	Single nucleotide variant (missense variant)	fluorouracil response - Other +1 more	Gdrug response
Select item 371088	NM_000110.4(DPYD):c.523del (p.Ser175fs)	DPYD (S175fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370782	NM_000110.4(DPYD):c.483+1G>T	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370259	NM_000110.4(DPYD):c.322-1G>C	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 554296	NM_000110.4(DPYD):c.233+1G>T	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370260	NM_000110.4(DPYD):c.232A>T (p.Arg78Ter)	DPYD (R78*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370757	NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	DPYD (R74*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370660	NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	DPYD (R70*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 553625	NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)	DPYD (K63E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 370330	NM_000110.4(DPYD):c.150+2T>A	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 502676	NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)	DPYD	Deletion (nonsense)	Dihydropyrimidine dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 188848	NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	DPYD (R21*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 550879	NM_000110.4(DPYD):c.45C>A (p.Ile15=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely benign
Select item 370476	NM_000110.4(DPYD):c.3G>A (p.Met1Ile)	DPYD, LOC129930998 (M1I)	Single nucleotide variant (missense variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic

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Items: 79