ClinVar for Gene (Select 3704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286960	NM_033453.4(ITPA):c.41C>T (p.Thr14Met)	ITPA (T14M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3256850	NM_033453.4(ITPA):c.412-521C>T	ITPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256814	NM_033453.4(ITPA):c.412-418C>T	ITPA (R139C)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 3256812	NM_033453.4(ITPA):c.412-298T>C	ITPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256810	NM_033453.4(ITPA):c.412-358T>C	ITPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256808	NM_033453.4(ITPA):c.411+425G>A	ITPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255005	NM_033453.4(ITPA):c.325G>T (p.Asp109Tyr)	ITPA (D109Y +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248351	NC_000020.10:g.(?_3171299)_(3218325_?)dup	DDRGK1, ITPA +1 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3148970	NM_033453.4(ITPA):c.489-1G>T	ITPA	Single nucleotide variant (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 3111681	NM_033453.4(ITPA):c.113A>G (p.Gln38Arg)	ITPA (Q21R +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3080841	NM_023935.3(DDRGK1):c.89C>T (p.Ser30Leu)	DDRGK1, ITPA +1 more (S30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064882	NM_033453.4(ITPA):c.215A>G (p.Asp72Gly)	ITPA (D114G +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 3064387	NM_033453.4(ITPA):c.205_207del (p.Leu69del)	ITPA (L111del +3 more)	Deletion (inframe_deletion +2 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 3062412	GRCh37/hg19 20p13(chr20:3169728-3642646)x1	ATRN, DDRGK1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3035201	NM_033453.4(ITPA):c.*40G>C	ITPA (W224C +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	ITPA-related disorder	GBenign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +114 more	Copy number gain	not provided	GPathogenic
Select item 3017430	NM_033453.4(ITPA):c.252del (p.Gly85fs)	ITPA (G44fs +3 more)	Deletion (frameshift variant +2 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 3016973	NM_023935.3(DDRGK1):c.15G>T (p.Val5=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015672	NM_033453.4(ITPA):c.488+17_488+21del	ITPA	Deletion (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2996523	NM_033453.4(ITPA):c.399G>A (p.Arg133=)	ITPA, LOC130065322 (G21E)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2955097	NM_033453.4(ITPA):c.489-16T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2907012	NM_033453.4(ITPA):c.381G>T (p.Gln127His)	ITPA, LOC130065322 (S15I +4 more)	Single nucleotide variant (missense variant +1 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2901415	NM_033453.4(ITPA):c.124+13T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2881158	NM_033453.4(ITPA):c.296-11C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2867319	NM_033453.4(ITPA):c.73C>T (p.Gln25Ter)	ITPA (Q67* +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 2865498	NM_033453.4(ITPA):c.403C>A (p.Arg135=)	ITPA, LOC130065322	Single nucleotide variant (synonymous variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2853327	NM_033453.4(ITPA):c.296-6C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2808287	NM_033453.4(ITPA):c.284del (p.Lys94_Leu95insTer)	ITPA	Deletion (nonsense +2 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 2807156	NM_033453.4(ITPA):c.357A>G (p.Ala119=)	ITPA (H7R)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2804345	NM_033453.4(ITPA):c.129G>C (p.Pro43=)	ITPA	Single nucleotide variant (5 prime UTR variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2802405	NM_033453.4(ITPA):c.396C>T (p.Phe132=)	ITPA, LOC130065322 (S20L)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency +1 more	GLikely benign
Select item 2801083	NM_023935.3(DDRGK1):c.91+19C>G	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786037	NM_033453.4(ITPA):c.189+8C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2742878	NM_033453.4(ITPA):c.162A>T (p.Ile54=)	ITPA	Single nucleotide variant (5 prime UTR variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2734798	NM_033453.4(ITPA):c.66+15T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2730870	NM_033453.4(ITPA):c.432A>G (p.Arg144=)	ITPA (E160G +1 more)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2725115	NM_033453.4(ITPA):c.263+13C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2723415	NM_033453.4(ITPA):c.296-19C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2704767	NM_033453.4(ITPA):c.570C>G (p.Gly190=)	ITPA (A78G +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 2703904	NM_033453.4(ITPA):c.66+16T>G	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2702198	NM_033453.4(ITPA):c.66+10G>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2694632	NM_033453.4(ITPA):c.249C>T (p.Leu83=)	ITPA	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2684901	GRCh37/hg19 20p13(chr20:3173504-3385006)x3	DDRGK1, DNAAF9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2682281	NM_033453.4(ITPA):c.189+4C>G	ITPA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2652168	NM_033453.4(ITPA):c.489G>T (p.Thr163=)	ITPA (R179L +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2582696	NM_033453.4(ITPA):c.137del (p.Gln46fs)	ITPA (Q29fs +2 more)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2573633	NC_000020.10:g.(?_3190005)_(3204517_?)dup	ITPA	Duplication	not specified	GUncertain significance
Select item 2538104	NM_033453.4(ITPA):c.454G>C (p.Asp152His)	ITPA (D111H +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2444404	NM_033453.4(ITPA):c.142G>T (p.Glu48Ter)	ITPA (E31* +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 35	GPathogenic
Select item 2432926	NM_033453.4(ITPA):c.262A>C (p.Ile88Leu)	ITPA (I47L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2427137	NC_000020.10:g.(?_3063276)_(3218325_?)dup	AVP, DDRGK1 +5 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 2427136	NC_000020.10:g.(?_3183839)_(3190283_?)dup	DDRGK1, ITPA	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 2427135	NC_000020.10:g.(?_3195907)_(3195978_?)del	ITPA	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2420357	NM_033453.4(ITPA):c.125-8C>G	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2415102	NM_023935.3(DDRGK1):c.20A>T (p.Tyr7Phe)	DDRGK1, ITPA (Y7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264555	NM_033453.4(ITPA):c.155T>C (p.Ile52Thr)	ITPA (I52T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2259999	NM_033453.4(ITPA):c.58C>A (p.Leu20Met)	ITPA (L20M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2193787	NM_033453.4(ITPA):c.264-13C>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2193764	NM_033453.4(ITPA):c.190-3C>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2192969	NM_033453.4(ITPA):c.66+8G>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2189619	NM_033453.4(ITPA):c.125T>C (p.Leu42Pro)	ITPA (L25P +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2188519	NM_033453.4(ITPA):c.263+16C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2187287	NM_033453.4(ITPA):c.557A>G (p.Gln186Arg)	ITPA (R74G +5 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2184287	NM_033453.4(ITPA):c.295+16T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2166514	NM_023935.3(DDRGK1):c.65C>T (p.Thr22Ile)	DDRGK1, ITPA +1 more (T22I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161532	NM_033453.4(ITPA):c.13T>C (p.Leu5=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2149173	NM_033453.4(ITPA):c.199C>A (p.Pro67Thr)	ITPA (P26T +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2149086	NM_033453.4(ITPA):c.324G>A (p.Glu108=)	ITPA	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2144521	NM_033453.4(ITPA):c.488+20T>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2135594	NM_033453.4(ITPA):c.523G>A (p.Val175Ile)	ITPA (V158I +3 more)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2132673	NM_033453.4(ITPA):c.233A>T (p.Asn78Ile)	ITPA (N37I +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2127053	NM_033453.4(ITPA):c.337T>C (p.Tyr113His)	ITPA (Y72H +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2124112	NM_033453.4(ITPA):c.412-10C>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2120647	NM_033453.4(ITPA):c.345C>T (p.Leu115=)	ITPA (S3F)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2113025	NM_033453.4(ITPA):c.67-2A>G	ITPA	Single nucleotide variant (splice acceptor variant +1 more)	Inosine triphosphatase deficiency	GLikely pathogenic
Select item 2108826	NM_033453.4(ITPA):c.507G>C (p.Lys169Asn)	ITPA (K128N +5 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2105007	NM_033453.4(ITPA):c.411+18T>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2103972	NM_033453.4(ITPA):c.67-19C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2102793	NM_033453.4(ITPA):c.263+15C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2098761	NM_033453.4(ITPA):c.429C>A (p.Pro143=)	ITPA (P31Q +1 more)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2093582	NM_033453.4(ITPA):c.156T>A (p.Ile52=)	ITPA	Single nucleotide variant (5 prime UTR variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2085605	NM_033453.4(ITPA):c.489-6C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2082166	NM_033453.4(ITPA):c.489-9del	ITPA	Deletion (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2081158	NM_033453.4(ITPA):c.125-5A>G	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2075083	NM_033453.4(ITPA):c.403del (p.Arg135fs)	ITPA, LOC130065322 (R94fs +4 more)	Deletion (frameshift variant +1 more)	Inosine triphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2070968	NM_033453.4(ITPA):c.549G>A (p.Leu183=)	ITPA (W71* +1 more)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2069676	NM_033453.4(ITPA):c.296-2A>C	ITPA	Single nucleotide variant (splice acceptor variant)	Inosine triphosphatase deficiency	GLikely pathogenic
Select item 2066566	NM_033453.4(ITPA):c.565T>C (p.Phe189Leu)	ITPA (F189L +3 more)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency +1 more	GUncertain significance
Select item 2045104	NM_033453.4(ITPA):c.519del (p.Asn173fs)	ITPA (N132fs +3 more)	Deletion (frameshift variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2038261	NM_033453.4(ITPA):c.362G>A (p.Ser121Asn)	ITPA (S121N +4 more)	Single nucleotide variant (missense variant +1 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2031686	NM_033453.4(ITPA):c.90dup (p.Phe31fs)	ITPA (F14fs +2 more)	Duplication (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GPathogenic

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