5805[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1204513	NC_000011.10:g.112226192A>G	PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1301470	NC_000011.10:g.112226219C>G	PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1320455	NC_000011.10:g.112226337C>T	LOC130006765, PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1301490	NC_000011.10:g.112226363C>T	LOC130006765, PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1067052	NM_000317.3(PTS):c.-24_9del	LOC130006765, PTS	Deletion	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 1067348	NM_000317.3(PTS):c.1A>G (p.Met1Val)	LOC130006765, PTS (M1V)	Single nucleotide variant (missense variant +1 more)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 982126	NM_000317.3(PTS):c.2T>G (p.Met1Arg)	LOC130006765, PTS (M1R)	Single nucleotide variant (missense variant +1 more)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2704000	NM_000317.3(PTS):c.3G>T (p.Met1Ile)	LOC130006765, PTS (M1I)	Single nucleotide variant (missense variant +1 more)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 1641671	NM_000317.3(PTS):c.9G>A (p.Thr3=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2156433	NM_000317.3(PTS):c.11A>G (p.Glu4Gly)	LOC130006765, PTS (E4G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 991005	NM_000317.3(PTS):c.17G>T (p.Gly6Val)	LOC130006765, PTS (G6V)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2678105	NM_000317.3(PTS):c.23_27dup (p.Cys10fs)	LOC130006765, PTS (C10fs)	Duplication (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 1105057	NM_000317.3(PTS):c.21C>T (p.Gly7=)	PTS, LOC130006765	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1417332	NM_000317.3(PTS):c.22C>T (p.Arg8Cys)	LOC130006765, PTS (R8C)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 1949361	NM_000317.3(PTS):c.24T>C (p.Arg8=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1217293	NM_000317.3(PTS):c.25C>T (p.Arg9Cys)	LOC130006765, PTS (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 552463	NM_000317.3(PTS):c.26G>A (p.Arg9His)	LOC130006765, PTS (R9H)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 1539440	NM_000317.3(PTS):c.36A>G (p.Ala12=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 3149728	NM_000317.3(PTS):c.40G>A (p.Val14Met)	LOC130006765, PTS (V14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449684	NM_000317.3(PTS):c.44C>T (p.Ser15Phe)	LOC130006765, PTS (S15F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1606302	NM_000317.3(PTS):c.45C>T (p.Ser15=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 477	NM_000317.3(PTS):c.46C>T (p.Arg16Cys)	LOC130006765, PTS (R16C)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 2046344	NM_000317.3(PTS):c.47G>A (p.Arg16His)	LOC130006765, PTS (R16H)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 1968383	NM_000317.3(PTS):c.48C>T (p.Arg16=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1139771	NM_000317.3(PTS):c.54C>A (p.Ile18=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1612373	NM_000317.3(PTS):c.57C>T (p.Ser19=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 3339051	NM_000317.3(PTS):c.58T>C (p.Phe20Leu)	LOC130006765, PTS (F20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3003001	NM_000317.3(PTS):c.63C>T (p.Ser21=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1679199	NM_000317.3(PTS):c.65C>G (p.Ala22Gly)	LOC130006765, PTS (A22G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 1145488	NM_000317.3(PTS):c.66G>A (p.Ala22=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 3068470	NM_000317.3(PTS):c.71A>C (p.His24Pro)	LOC130006765, PTS (H24P)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 1073651	NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)	LOC130006765, PTS (L26*)	Duplication (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 859996	NM_000317.3(PTS):c.73C>T (p.Arg25Ter)	LOC130006765, PTS (R25*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 463153	NM_000317.3(PTS):c.73C>G (p.Arg25Gly)	LOC130006765, PTS (R25G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 476	NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	LOC130006765, PTS (R25Q)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 2837017	NM_000317.3(PTS):c.75A>T (p.Arg25=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2892165	NM_000317.3(PTS):c.76T>C (p.Leu26=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1308635	NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	LOC130006765, PTS (L26F)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 2678104	NM_000317.3(PTS):c.83+1G>C	LOC130006765, PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 552817	NM_000317.3(PTS):c.83+1G>A	LOC130006765, PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 2189424	NM_000317.3(PTS):c.83+5G>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2068755	NM_000317.3(PTS):c.83+5G>A	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2812490	NM_000317.3(PTS):c.83+9T>C	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1615323	NM_000317.3(PTS):c.83+9T>G	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1662658	NM_000317.3(PTS):c.83+10G>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1153186	NM_000317.3(PTS):c.83+10G>C	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1099419	NM_000317.3(PTS):c.83+10G>A	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2865278	NM_000317.3(PTS):c.83+11C>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2898811	NM_000317.3(PTS):c.83+12A>G	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2715870	NM_000317.3(PTS):c.83+12A>C	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1277260	NM_000317.3(PTS):c.83+84A>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301515	NM_000317.3(PTS):c.83+190C>A	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 486	NM_000317.3(PTS):c.84-323A>T	PTS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 649292	NM_000317.3(PTS):c.84-291A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1297387	NM_000317.3(PTS):c.84-7dup	PTS	Duplication (intron variant)	not provided	GBenign
Select item 1230021	NM_000317.3(PTS):c.84-7del	PTS	Deletion (intron variant)	not provided	GBenign
Select item 2827274	NM_000317.3(PTS):c.84-18T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2756973	NM_000317.3(PTS):c.84-10T>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2023844	NM_000317.3(PTS):c.84-8T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 757742	NM_000317.3(PTS):c.84-7T>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1576937	NM_000317.3(PTS):c.84-5del	PTS	Deletion (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 463154	NM_000317.3(PTS):c.84-6G>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1979497	NM_000317.3(PTS):c.84-5G>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1662110	NM_000317.3(PTS):c.84-5G>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1555635	NM_000317.3(PTS):c.84-5G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2811259	NM_000317.3(PTS):c.84-4T>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1174730	NM_000317.3(PTS):c.84-3C>T	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 553378	NM_000317.3(PTS):c.84-3C>G	PTS	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2144321	NM_000317.3(PTS):c.84-2A>G	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2027048	NM_000317.3(PTS):c.84-1G>A	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2046210	NM_000317.3(PTS):c.85A>T (p.Lys29Ter)	PTS (K29*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 3061791	NM_000317.3(PTS):c.91C>A (p.Leu31Ile)	PTS (L31I)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GUncertain significance
Select item 463155	NM_000317.3(PTS):c.95G>A (p.Ser32Asn)	PTS (S32N)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 1068143	NM_000317.3(PTS):c.104A>G (p.Glu35Gly)	PTS (E35G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 941033	NM_000317.3(PTS):c.107del (p.Asn36fs)	PTS (N36fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2099890	NM_000317.3(PTS):c.105A>C (p.Glu35Asp)	PTS (E35D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 1519030	NM_000317.3(PTS):c.106A>G (p.Asn36Asp)	PTS (N36D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 3061790	NM_000317.3(PTS):c.108C>A (p.Asn36Lys)	PTS (N36K)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GLikely pathogenic
Select item 1141074	NM_000317.3(PTS):c.108C>T (p.Asn36=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 555429	NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	PTS (N36K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 550850	NM_000317.3(PTS):c.118_121del (p.Phe40fs)	PTS (F40fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 1094231	NM_000317.3(PTS):c.117G>C (p.Leu39=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 553950	NM_000317.3(PTS):c.118T>C (p.Phe40Leu)	PTS (F40L)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2001923	NM_000317.3(PTS):c.120T>C (p.Phe40=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 879173	NM_000317.3(PTS):c.121G>A (p.Gly41Arg)	PTS (G41R)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2156573	NM_000317.3(PTS):c.123G>A (p.Gly41=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1950089	NM_000317.3(PTS):c.130A>G (p.Asn44Asp)	PTS (N44D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 3149727	NM_000317.3(PTS):c.131A>G (p.Asn44Ser)	PTS (N44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 302497	NM_000317.3(PTS):c.132C>T (p.Asn44=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 1429485	NM_000317.3(PTS):c.136C>A (p.Pro46Thr)	PTS (P46T)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 482	NM_000317.3(PTS):c.139A>G (p.Asn47Asp)	PTS (N47D)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	GPathogenic
Select item 2702932	NM_000317.3(PTS):c.141T>C (p.Asn47=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1107710	NM_000317.3(PTS):c.144C>T (p.Gly48=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 558152	NM_000317.3(PTS):c.146A>G (p.His49Arg)	PTS, TEX12 (H49R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2017672	NM_000317.3(PTS):c.147T>C (p.His49=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 463150	NM_000317.3(PTS):c.148G>A (p.Gly50Arg)	PTS (G50R)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 1476325	NM_000317.3(PTS):c.149G>A (p.Gly50Glu)	PTS (G50E)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 663940	NM_000317.3(PTS):c.151C>T (p.His51Tyr)	PTS (H51Y)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance

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