ClinVar for MedGen (Select 83353) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691788	NM_001385.3(DPYS):c.983G>T (p.Cys328Phe)	DPYS (C328F)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GLikely pathogenic
Select item 2691719	NM_001385.3(DPYS):c.1064G>A (p.Arg355Gln)	DPYS (R355Q)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GLikely pathogenic
Select item 2682641	NM_001385.3(DPYS):c.502T>C (p.Tyr168His)	DPYS (Y168H)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 2191880	NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)	DPYS (Q85*)	Single nucleotide variant (nonsense)	Dihydropyrimidinase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1333583	NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)	DPYS (T343A)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GUncertain significance
Select item 1029334	NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys)	DPYS (R490C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972740	NM_001385.3(DPYS):c.175G>T (p.Val59Phe)	DPYS (V59F)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 972724	NM_001385.3(DPYS):c.750G>A (p.Met250Ile)	DPYS (M250I)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 911876	NM_001385.3(DPYS):c.461G>C (p.Gly154Ala)	DPYS (G154A)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 911875	NM_001385.3(DPYS):c.489C>T (p.Ala163=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 911874	NM_001385.3(DPYS):c.529G>A (p.Glu177Lys)	DPYS (E177K)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GUncertain significance
Select item 910648	NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp)	DPYS (R355W)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 909799	NM_001385.3(DPYS):c.-93A>T	DPYS	Single nucleotide variant (5 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 909798	NM_001385.3(DPYS):c.111C>T (p.His37=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 909730	NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro)	DPYS (Q478P)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 909729	NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	DPYS (R490H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909728	NM_001385.3(DPYS):c.*14G>A	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 909727	NM_001385.3(DPYS):c.*65T>C	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GBenign
Select item 909726	NM_001385.3(DPYS):c.*148C>T	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GBenign
Select item 908929	NM_001385.3(DPYS):c.169A>G (p.Lys57Glu)	DPYS (K57E)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 908928	NM_001385.3(DPYS):c.177C>G (p.Val59=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 908927	NM_001385.3(DPYS):c.264+10C>T	DPYS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908926	NM_001385.3(DPYS):c.342C>T (p.Phe114=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908925	NM_001385.3(DPYS):c.381C>T (p.Cys127=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 908871	NM_001385.3(DPYS):c.*345A>T	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 863103	NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter)	DPYS (R465*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 788274	NM_001385.3(DPYS):c.528C>T (p.Tyr176=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign/Likely benign
Select item 632514	NM_001385.3(DPYS):c.242A>G (p.Asp81Gly)	DPYS (D81G)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 631543	NM_001385.3(DPYS):c.905G>A (p.Arg302Gln)	DPYS (R302Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 446083	NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)	DPYS (R475*)	Single nucleotide variant (nonsense)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 372797	NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	DPYS (S379R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 361455	NM_001385.3(DPYS):c.17G>A (p.Arg6Gln)	DPYS (R6Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 361454	NM_001385.3(DPYS):c.131G>T (p.Gly44Val)	DPYS (G44V)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361453	NM_001385.3(DPYS):c.603+5G>A	DPYS	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 361452	NM_001385.3(DPYS):c.672A>G (p.Ala224=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 361451	NM_001385.3(DPYS):c.793+10G>T	DPYS	Single nucleotide variant (intron variant)	Dihydropyrimidinase deficiency +1 more	GBenign/Likely benign
Select item 361450	NM_001385.3(DPYS):c.817A>G (p.Ile273Val)	DPYS (I273V)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +2 more	GUncertain significance
Select item 361449	NM_001385.3(DPYS):c.856A>T (p.Asn286Tyr)	DPYS (N286Y)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361448	NM_001385.3(DPYS):c.1350C>T (p.Ala450=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 361447	NM_001385.3(DPYS):c.*70A>T	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361446	NM_001385.3(DPYS):c.166_169del	DPYS	Deletion (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361445	NM_001385.3(DPYS):c.*200T>C	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361444	NM_001385.3(DPYS):c.*205G>A	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361443	NM_001385.3(DPYS):c.*344T>A	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GBenign
Select item 361442	NM_001385.3(DPYS):c.*351dup	DPYS	Duplication (3 prime UTR variant)	Dihydropyrimidinase deficiency	GLikely benign
Select item 361441	NM_001385.3(DPYS):c.*408A>G	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 100152	NM_001385.3(DPYS):c.-104T>C	DPYS	Single nucleotide variant (5 prime UTR variant)	Dihydropyrimidinase deficiency	GLikely benign
Select item 100151	NM_001385.3(DPYS):c.-1T>C	DPYS	Single nucleotide variant (5 prime UTR variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 100150	NM_001385.3(DPYS):c.15G>A (p.Ser5=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 100149	NM_001385.3(DPYS):c.19C>G (p.Leu7Val)	DPYS (L7V)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +2 more	GLikely benign
Select item 100148	NM_001385.3(DPYS):c.216C>T (p.Phe72=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 100147	NM_001385.3(DPYS):c.264+5C>T	DPYS	Single nucleotide variant (intron variant)	Dihydropyrimidinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 100142	NM_001385.3(DPYS):c.541C>T (p.Arg181Trp)	DPYS (R181W)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 100141	NM_001385.3(DPYS):c.765T>C (p.Ala255=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 100139	NM_001385.3(DPYS):c.1029C>G (p.Thr343=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 100138	NM_001385.3(DPYS):c.1062T>C (p.Asp354=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign/Likely benign
Select item 100137	NM_001385.3(DPYS):c.1092+9C>T	DPYS	Single nucleotide variant (intron variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 100132	NM_001385.3(DPYS):c.1506del (p.Arg503fs)	DPYS (R503fs)	Deletion (frameshift variant)	Dihydropyrimidinase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 187	NM_001385.3(DPYS):c.1235G>T (p.Arg412Met)	DPYS (R412M)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 186	NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)	DPYS (W360R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 185	NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg)	DPYS (G435R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 184	NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg)	DPYS (Q334R)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Links from MedGen

Items: 62