ClinVar for Gene (Select 1807) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085658	NM_001385.3(DPYS):c.898C>T (p.Pro300Ser)	DPYS (P300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085657	NM_001385.3(DPYS):c.684G>C (p.Glu228Asp)	DPYS (E228D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085656	NM_001385.3(DPYS):c.629G>A (p.Gly210Glu)	DPYS (G210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085655	NM_001385.3(DPYS):c.551A>G (p.Glu184Gly)	DPYS (E184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085654	NM_001385.3(DPYS):c.505A>G (p.Met169Val)	DPYS (M169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085653	NM_001385.3(DPYS):c.43G>A (p.Val15Ile)	DPYS (V15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085652	NM_001385.3(DPYS):c.356G>A (p.Ser119Asn)	DPYS (S119N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085650	NM_001385.3(DPYS):c.1418A>G (p.Tyr473Cys)	DPYS (Y473C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3025074	NM_001385.3(DPYS):c.447T>C (p.Leu149=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007356	NM_001385.3(DPYS):c.1188T>A (p.Ala396=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990401	NM_001385.3(DPYS):c.651C>T (p.His217=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982637	NM_001385.3(DPYS):c.52G>A (p.Asp18Asn)	DPYS (D18N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982636	NM_001385.3(DPYS):c.264+13C>A	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982446	NM_001385.3(DPYS):c.406A>G (p.Thr136Ala)	DPYS (T136A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977420	NM_001385.3(DPYS):c.951-18G>A	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966836	NM_001385.3(DPYS):c.57C>T (p.Phe19=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958801	NM_001385.3(DPYS):c.1491C>T (p.Val497=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887397	NM_001385.3(DPYS):c.1071C>T (p.Ser357=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838625	NM_001385.3(DPYS):c.215dup (p.Phe74fs)	DPYS (F74fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2737553	NM_001385.3(DPYS):c.1038_1039insT (p.Asn347Ter)	DPYS (N347*)	Insertion (nonsense)	not provided	GPathogenic
Select item 2735195	NM_001385.3(DPYS):c.1092+5del	DPYS	Deletion (intron variant)	not provided	GLikely pathogenic
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 2620539	NM_001385.3(DPYS):c.836C>T (p.Thr279Ile)	DPYS (T279I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609437	NM_001385.3(DPYS):c.1072G>A (p.Val358Ile)	DPYS (V358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601279	NM_001385.3(DPYS):c.256G>A (p.Gly86Ser)	DPYS (G86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599305	NM_001385.3(DPYS):c.1436G>A (p.Arg479Gln)	DPYS (R479Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510482	NM_001385.3(DPYS):c.838G>C (p.Asp280His)	DPYS (D280H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2424158	NC_000008.10:g.(?_105436455)_(105463652_?)dup	DPYS	Duplication	not provided	GLikely pathogenic
Select item 2424157	NC_000008.10:g.(?_104412639)_(106815766_?)dup	DCAF13, DCSTAMP +5 more	Duplication	not provided	GUncertain significance
Select item 2421638	NM_001385.3(DPYS):c.543G>A (p.Arg181=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416008	NM_001385.3(DPYS):c.1264G>A (p.Ala422Thr)	DPYS (A422T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414033	NM_001385.3(DPYS):c.159C>T (p.Asp53=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410766	NM_001385.3(DPYS):c.925G>A (p.Asp309Asn)	DPYS (D309N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387591	NM_001385.3(DPYS):c.758C>G (p.Ser253Cys)	DPYS (S253C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341857	NM_001385.3(DPYS):c.1222C>T (p.Pro408Ser)	DPYS (P408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338639	NM_001385.3(DPYS):c.707T>C (p.Ile236Thr)	DPYS (I236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299371	NM_001385.3(DPYS):c.100G>A (p.Ala34Thr)	DPYS (A34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290933	NM_001385.3(DPYS):c.40G>A (p.Val14Met)	DPYS (V14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237196	NM_001385.3(DPYS):c.172C>T (p.Leu58Phe)	DPYS (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235246	NM_001385.3(DPYS):c.383A>T (p.Asp128Val)	DPYS (D128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230163	NM_001385.3(DPYS):c.31G>T (p.Gly11Trp)	DPYS (G11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214487	NM_001385.3(DPYS):c.269C>T (p.Ala90Val)	DPYS (A90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213094	NM_001385.3(DPYS):c.895C>T (p.Pro299Ser)	DPYS (P299S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192877	NM_001385.3(DPYS):c.1089C>T (p.Gly363=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2191880	NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)	DPYS (Q85*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2187356	NM_001385.3(DPYS):c.1040A>G (p.Asn347Ser)	DPYS (N347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177530	NM_001385.3(DPYS):c.1441C>T (p.Arg481Trp)	DPYS (R481W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166369	NM_001385.3(DPYS):c.12C>T (p.Pro4=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136757	NM_001385.3(DPYS):c.127G>A (p.Gly43Arg)	DPYS (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103684	NM_001385.3(DPYS):c.487G>T (p.Ala163Ser)	DPYS (A163S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088720	NM_001385.3(DPYS):c.320G>T (p.Gly107Val)	DPYS (G107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072135	NM_001385.3(DPYS):c.603+4C>T	DPYS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2070887	NM_001385.3(DPYS):c.48C>G (p.Asn16Lys)	DPYS (N16K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067524	NM_001385.3(DPYS):c.270T>G (p.Ala90=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2055236	NM_001385.3(DPYS):c.209T>C (p.Met70Thr)	DPYS (M70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2045415	NM_001385.3(DPYS):c.951-15T>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023025	NM_001385.3(DPYS):c.265-19A>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019362	NM_001385.3(DPYS):c.27C>T (p.Ile9=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018435	NM_001385.3(DPYS):c.951-11T>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017383	NM_001385.3(DPYS):c.1332C>G (p.Gly444=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011871	NM_001385.3(DPYS):c.1045G>T (p.Val349Leu)	DPYS (V349L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005189	NM_001385.3(DPYS):c.131G>A (p.Gly44Asp)	DPYS (G44D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996397	NM_001385.3(DPYS):c.1170A>C (p.Pro390=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1987616	NM_001385.3(DPYS):c.1093-20T>G	DPYS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972847	NM_001385.3(DPYS):c.1472C>T (p.Ala491Val)	DPYS (A491V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968803	NM_001385.3(DPYS):c.1019A>G (p.Asp340Gly)	DPYS (D340G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968759	NM_001385.3(DPYS):c.933C>T (p.Leu311=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966067	NM_001385.3(DPYS):c.298G>C (p.Asp100His)	DPYS (D100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961251	NM_001385.3(DPYS):c.1554C>A (p.His518Gln)	DPYS (H518Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950908	NM_001385.3(DPYS):c.140C>G (p.Ala47Gly)	DPYS (A47G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1945734	NM_001385.3(DPYS):c.391C>T (p.Leu131Phe)	DPYS (L131F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943628	NM_001385.3(DPYS):c.925G>T (p.Asp309Tyr)	DPYS (D309Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930410	NM_001385.3(DPYS):c.950+14A>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928253	NM_001385.3(DPYS):c.70G>C (p.Asp24His)	DPYS (D24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927893	NM_001385.3(DPYS):c.1363G>A (p.Val455Ile)	DPYS (V455I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924903	NM_001385.3(DPYS):c.73G>C (p.Val25Leu)	DPYS (V25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916355	NM_001385.3(DPYS):c.777G>A (p.Ala259=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911475	NM_001385.3(DPYS):c.690G>A (p.Thr230=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904077	NM_001385.3(DPYS):c.3G>A (p.Met1Ile)	DPYS (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1901068	NM_001385.3(DPYS):c.21C>T (p.Leu7=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899092	NM_001385.3(DPYS):c.202A>G (p.Thr68Ala)	DPYS (T68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896760	NM_001385.3(DPYS):c.166G>A (p.Gly56Ser)	DPYS (G56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1660975	NM_001385.3(DPYS):c.714C>T (p.Ser238=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600340	NM_001385.3(DPYS):c.66G>A (p.Val22=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1565608	NM_001385.3(DPYS):c.579G>A (p.Ala193=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529816	NM_001385.3(DPYS):c.423+20A>G	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1518152	NM_001385.3(DPYS):c.1090G>A (p.Val364Met)	DPYS (V364M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468091	NM_001385.3(DPYS):c.301T>A (p.Phe101Ile)	DPYS (F101I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453559	NM_001385.3(DPYS):c.1469dup (p.Ala491fs)	DPYS (A491fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1453274	NM_001385.3(DPYS):c.1217G>A (p.Trp406Ter)	DPYS (W406*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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