APRT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1048365	NC_000016.10:g.88770428_88832724del	CDT1, LOC126862447 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048364	NC_000016.10:g.88779266_88827672del	LOC130059756, LOC130059757 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
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 321155	NM_000485.3(APRT):c.*182A>G	GALNS, APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
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 321156	NM_000485.3(APRT):c.*178A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency +2 more	GBenign
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 321161	NM_000485.3(APRT):c.*47T>C	GALNS, APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency +2 more	GLikely benign
Select item 321162	NM_000485.3(APRT):c.*3A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign/Likely benign
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)	See cases +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 +1 more	GConflicting classifications of pathogenicity
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)	not provided +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)	Adenine phosphoribosyltransferase deficiency +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)	Adenine phosphoribosyltransferase deficiency +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

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