APRT[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342088	NC_000016.10:g.88809297G>A	APRT	Single nucleotide variant	not provided	GLikely benign
Select item 1342087	NC_000016.10:g.88809314T>G	APRT	Single nucleotide variant	not provided	GLikely benign
Select item 1234021	NM_000485.3(APRT):c.*327CAG[1]	APRT	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1239482	NM_000485.3(APRT):c.*269C>A	APRT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 886625	NM_000485.3(APRT):c.*210A>G	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 321157	NM_000485.3(APRT):c.*178A>C	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GLikely benign
Select item 321158	NM_000485.3(APRT):c.*152C>T	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 321159	NM_000485.3(APRT):c.*122C>T	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 321160	NM_000485.3(APRT):c.*83G>A	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 988026	NM_000485.3(APRT):c.543A>T (p.Ter181Cys)	APRT	Single nucleotide variant (stop lost +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18302	NM_000485.3(APRT):c.542G>C (p.Ter181Ser)	APRT	Single nucleotide variant (stop lost +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988025	NM_000485.3(APRT):c.541T>C (p.Ter181Arg)	APRT	Single nucleotide variant (stop lost +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988024	NM_000485.3(APRT):c.532C>T (p.Gln178Ter)	APRT (Q178*)	Single nucleotide variant (nonsense +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988023	NM_000485.3(APRT):c.526_530del (p.Leu176fs)	APRT (L176fs)	Deletion (frameshift variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 744458	NM_000485.3(APRT):c.529C>T (p.Leu177=)	APRT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 988022	NM_000485.3(APRT):c.526C>T (p.Leu176Phe)	APRT (L176F)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988071	NM_000485.3(APRT):c.524C>T (p.Ser175Phe)	APRT (S175F)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988021	NM_000485.3(APRT):c.522_524del (p.Ser175del)	APRT (S175del)	Deletion (inframe_deletion +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18294	NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)	APRT (F174del)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3128096	NM_000485.3(APRT):c.514C>G (p.Pro172Ala)	APRT (P172A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 988070	NM_000485.3(APRT):c.510del (p.Val171fs)	APRT (V171fs)	Deletion (frameshift variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988069	NM_000485.3(APRT):c.491G>A (p.Gly164Asp)	APRT (G164D)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 1367702	NM_000485.3(APRT):c.484_486del (p.Leu162del)	APRT (L162del)	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 851226	NM_000485.3(APRT):c.482C>T (p.Ser161Leu)	APRT (S161L)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 988068	NM_000485.3(APRT):c.472_474del (p.Glu158del)	APRT (E158del)	Deletion (inframe_deletion +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 2102169	NM_000485.3(APRT):c.473A>G (p.Glu158Gly)	APRT (E158G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988067	NM_000485.3(APRT):c.461_462del (p.Val154fs)	APRT (V154fs)	Deletion (frameshift variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 1461446	NM_000485.3(APRT):c.460G>A (p.Val154Met)	APRT (V154M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 797738	NM_000485.3(APRT):c.459C>T (p.Cys153=)	APRT	Single nucleotide variant (synonymous variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 988066	NM_000485.3(APRT):c.457T>C (p.Cys153Arg)	APRT (C153R)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 41012	NM_000485.3(APRT):c.448G>T (p.Val150Phe)	APRT (V150F)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 2012629	NM_000485.3(APRT):c.442G>A (p.Ala148Thr)	APRT (A148T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988065	NM_000485.3(APRT):c.439C>T (p.Gln147Ter)	APRT (Q147*)	Single nucleotide variant (nonsense +1 more)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 887873	NM_000485.3(APRT):c.433C>A (p.Arg145Ser)	APRT (R145S)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 988064	NM_000485.3(APRT):c.428T>C (p.Leu143Pro)	APRT (L143P)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 884719	NM_000485.3(APRT):c.411C>T (p.Asn137=)	APRT	Single nucleotide variant (synonymous variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 18296	NM_000485.3(APRT):c.407T>C (p.Met136Thr)	APRT (M136T)	Single nucleotide variant (missense variant +1 more)	APRT deficiency, Japanese type +1 more	GPathogenic
Select item 2775553	NM_000485.3(APRT):c.406A>G (p.Met136Val)	APRT (M136V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 884720	NM_000485.3(APRT):c.401-15C>T	APRT	Single nucleotide variant (intron variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 2840982	NM_000485.3(APRT):c.400+18G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022001	NM_000485.3(APRT):c.400+15G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610591	NM_000485.3(APRT):c.400+14C>T	APRT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1966284	NM_000485.3(APRT):c.400+6G>A	APRT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 988062	NM_000485.3(APRT):c.400+3A>T	APRT	Single nucleotide variant (intron variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 203396	NM_000485.3(APRT):c.400+2dup	APRT	Duplication (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 988061	NM_000485.3(APRT):c.400+1G>T	APRT	Single nucleotide variant (splice donor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988060	NM_000485.3(APRT):c.398G>A (p.Gly133Asp)	APRT (G133D)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 2796942	NM_000485.3(APRT):c.388_397del (p.Leu130fs)	APRT (L130fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988063	NM_000485.3(APRT):c.389T>C (p.Leu130Pro)	APRT (L130P)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 1153854	NM_000485.3(APRT):c.385C>T (p.Leu129=)	APRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 988059	NM_000485.3(APRT):c.380A>G (p.Asp127Gly)	APRT (D127G)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 2115627	NM_000485.3(APRT):c.372CGT[1] (p.Val126del)	APRT (V126del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1483851	NM_000485.3(APRT):c.376G>T (p.Val126Leu)	APRT (V126L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382571	NM_000485.3(APRT):c.376G>A (p.Val126Met)	APRT (V126M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1896491	NM_000485.3(APRT):c.375C>T (p.Val125=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179325	NM_000485.3(APRT):c.373G>A (p.Val125Ile)	APRT (V125I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988058	NM_000485.3(APRT):c.371T>G (p.Val124Gly)	APRT (V124G)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 1026249	NM_000485.3(APRT):c.367G>C (p.Val123Leu)	APRT (V123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884721	NM_000485.3(APRT):c.364A>C (p.Arg122=)	APRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732386	NM_000485.3(APRT):c.362A>G (p.Gln121Arg)	APRT (Q121R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988057	NM_000485.3(APRT):c.359G>T (p.Gly120Val)	APRT (G120V)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 2718440	NM_000485.3(APRT):c.354G>A (p.Glu118=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988056	NM_000485.3(APRT):c.352G>C (p.Glu118Gln)	APRT (E118Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538840	NM_000485.3(APRT):c.347C>T (p.Ala116Val)	APRT (A116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884722	NM_000485.3(APRT):c.346G>A (p.Ala116Thr)	APRT (A116T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988055	NM_000485.3(APRT):c.334A>T (p.Ile112Phe)	APRT (I112F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18300	NM_000485.3(APRT):c.329T>C (p.Leu110Pro)	APRT (L110P)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 1927273	NM_000485.3(APRT):c.322-1_322delinsAT	APRT	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2961434	NM_000485.3(APRT):c.322-15C>G	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256634	NM_000485.3(APRT):c.322-64C>G	APRT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216374	NM_000485.3(APRT):c.322-103dup	APRT	Duplication (intron variant)	not provided	GLikely benign
Select item 1293761	NM_000485.3(APRT):c.322-110G>C	APRT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200071	NM_000485.3(APRT):c.322-126_322-123del	APRT	Deletion (intron variant)	not provided	GLikely benign
Select item 3023738	NM_000485.3(APRT):c.321+17G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1135198	NM_000485.3(APRT):c.321+7G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 18295	NM_000485.3(APRT):c.321+2dup	APRT	Duplication (splice donor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 3014671	NM_000485.3(APRT):c.321G>A (p.Lys107=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 321163	NM_000485.3(APRT):c.316G>A (p.Gly106Arg)	APRT (G106R)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 988054	NM_000485.3(APRT):c.311A>G (p.Glu104Gly)	APRT (E104G)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 1071729	NM_000485.3(APRT):c.310G>T (p.Glu104Ter)	APRT (E104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988043	NM_000485.3(APRT):c.188-145_296del	APRT	Deletion (splice acceptor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18301	NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA	APRT	Indel (splice acceptor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18298	NM_000485.3(APRT):c.294G>A (p.Trp98Ter)	APRT (W98*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 2331052	NM_000485.3(APRT):c.293G>T (p.Trp98Leu)	APRT (W98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1387232	NM_000485.3(APRT):c.292T>C (p.Trp98Arg)	APRT (W98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988053	NM_000485.3(APRT):c.289_290del (p.Leu97fs)	APRT (L97fs)	Microsatellite (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 1091416	NM_000485.3(APRT):c.288T>C (p.Thr96=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988052	NM_000485.3(APRT):c.286_287del (p.Thr96fs)	APRT (T96fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988051	NM_000485.3(APRT):c.280_286del (p.Gly94fs)	APRT (G94fs)	Deletion (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 1458416	NM_000485.3(APRT):c.279_283del (p.Gly94fs)	APRT (G94fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 884723	NM_000485.3(APRT):c.276G>A (p.Leu92=)	APRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2102931	NM_000485.3(APRT):c.270G>A (p.Gly90=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452119	NM_000485.3(APRT):c.270del (p.Lys91fs)	APRT (K91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 884724	NM_000485.3(APRT):c.266G>A (p.Arg89Gln)	APRT (R89Q)	Single nucleotide variant (missense variant)	APRT-related disorder +2 more	GBenign/Likely benign
Select item 988050	NM_000485.3(APRT):c.264G>T (p.Lys88Asn)	APRT (K88N)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18299	NM_000485.3(APRT):c.258_261dup (p.Lys88fs)	APRT (K88fs)	Duplication (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988049	NM_000485.3(APRT):c.259C>T (p.Arg87Ter)	APRT (R87*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988048	NM_000485.3(APRT):c.250G>A (p.Val84Met)	APRT (V84M)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 3128095	NM_000485.3(APRT):c.232G>A (p.Glu78Lys)	APRT (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988047	NM_000485.3(APRT):c.227C>T (p.Ala76Val)	APRT (A76V)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic

<< First< Prev

Page of 2