ClinVar for MedGen (Select 82772) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1461446	NM_000485.3(APRT):c.460G>A (p.Val154Met)	APRT (V154M)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 1420547	NM_000485.3(APRT):c.175G>A (p.Asp59Asn)	APRT (D59N)	Single nucleotide variant (missense variant)	not provided +2 more	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 1323924	NM_000485.3(APRT):c.13G>T (p.Glu5Ter)	APRT, LOC130059760 (E5*)	Single nucleotide variant (nonsense)	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 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 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 988068	NM_000485.3(APRT):c.472_474del (p.Glu158del)	APRT (E158del)	Deletion (inframe_deletion +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 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 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 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 988063	NM_000485.3(APRT):c.389T>C (p.Leu130Pro)	APRT (L130P)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988062	NM_000485.3(APRT):c.400+3A>T	APRT	Single nucleotide variant (intron variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 988059	NM_000485.3(APRT):c.380A>G (p.Asp127Gly)	APRT (D127G)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 988057	NM_000485.3(APRT):c.359G>T (p.Gly120Val)	APRT (G120V)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 988055	NM_000485.3(APRT):c.334A>T (p.Ile112Phe)	APRT (I112F)	Single nucleotide variant (missense variant)	not provided	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 988053	NM_000485.3(APRT):c.289_290del (p.Leu97fs)	APRT (L97fs)	Microsatellite (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 988050	NM_000485.3(APRT):c.264G>T (p.Lys88Asn)	APRT (K88N)	Single nucleotide variant (missense 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 988047	NM_000485.3(APRT):c.227C>T (p.Ala76Val)	APRT (A76V)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988046	NM_000485.3(APRT):c.200G>A (p.Arg67Gln)	APRT (R67Q)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988045	NM_000485.3(APRT):c.199C>T (p.Arg67Ter)	APRT (R67*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988044	NM_000485.3(APRT):c.188G>A (p.Gly63Asp)	APRT (G63D)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988043	NM_000485.3(APRT):c.188-145_296del	APRT	Deletion (splice acceptor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988042	NM_000485.3(APRT):c.188-3C>G	APRT	Single nucleotide variant (intron variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988041	NM_000485.3(APRT):c.184_187+22del	APRT	Deletion (splice donor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988040	NM_000485.3(APRT):c.180_181insT (p.Ile61fs)	APRT (I61fs)	Insertion (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988039	NM_000485.3(APRT):c.160C>G (p.His54Asp)	APRT (H54D)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988038	NM_000485.3(APRT):c.119G>C (p.Arg40Pro)	APRT (R40P)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988037	NM_000485.3(APRT):c.98T>C (p.Leu33Pro)	APRT (L33P)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988036	NM_000485.3(APRT):c.84C>A (p.Asp28Glu)	APRT (D28E)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988035	NM_000485.3(APRT):c.82G>C (p.Asp28His)	APRT (D28H)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988034	NM_000485.3(APRT):c.81-2A>G	APRT	Single nucleotide variant (splice acceptor variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988033	NM_000485.3(APRT):c.81-3C>G	APRT	Single nucleotide variant (intron variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988032	NM_000485.3(APRT):c.58C>T (p.Pro20Ser)	APRT, LOC130059760 (P20S)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988031	NM_000485.3(APRT):c.23dup (p.Val9fs)	APRT, LOC130059760 (V9fs)	Duplication (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988030	NM_000485.3(APRT):c.3G>A (p.Met1Ile)	APRT, LOC130059760 (M1I)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988029	NM_000485.3(APRT):c.2T>C (p.Met1Thr)	APRT, LOC130059760 (M1T)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988028	NM_000485.3(APRT):c.1A>G (p.Met1Val)	APRT, LOC130059760 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 988027	NM_000485.2:c.-1_*1del	APRT	Deletion	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 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 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 988021	NM_000485.3(APRT):c.522_524del (p.Ser175del)	APRT (S175del)	Deletion (inframe_deletion +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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 886625	NM_000485.3(APRT):c.*210A>G	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 884785	NM_000512.5(GALNS):c.*212C>A	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 884724	NM_000485.3(APRT):c.266G>A (p.Arg89Gln)	APRT (R89Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 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 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 884720	NM_000485.3(APRT):c.401-15C>T	APRT	Single nucleotide variant (intron variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 884719	NM_000485.3(APRT):c.411C>T (p.Asn137=)	APRT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 851226	NM_000485.3(APRT):c.482C>T (p.Ser161Leu)	APRT (S161L)	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 369134	NM_000485.2(APRT):c.-50C>A	APRT, GALNS +1 more	Single nucleotide variant	Morquio syndrome +2 more	GBenign/Likely benign
Select item 321181	NM_000512.5(GALNS):c.*224C>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign/Likely benign
Select item 321177	NM_000512.5(GALNS):c.*296A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +3 more	GBenign/Likely benign
Select item 321176	NM_000512.5(GALNS):c.*367T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign
Select item 321174	NM_000512.5(GALNS):c.*524G>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign/Likely benign
Select item 321170	NM_000512.5(GALNS):c.*611A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +3 more	GBenign
Select item 321169	NM_000512.5(GALNS):c.*652A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency +3 more	GBenign
Select item 321168	NM_000512.5(GALNS):c.*701C>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign
Select item 321167	NM_000485.3(APRT):c.90G>T (p.Ser30=)	APRT, GALNS	Single nucleotide variant (synonymous variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 321166	NM_000485.3(APRT):c.97C>T (p.Leu33=)	APRT, GALNS	Single nucleotide variant (synonymous variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 321165	NM_000485.3(APRT):c.162C>T (p.His54=)	APRT	Single nucleotide variant (synonymous variant)	Adenine phosphoribosyltransferase deficiency +1 more	GBenign/Likely benign
Select item 321164	NM_000485.3(APRT):c.216C>A (p.Gly72=)	APRT	Single nucleotide variant (synonymous variant)	Adenine phosphoribosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 321161	NM_000485.3(APRT):c.*47T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
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 321159	NM_000485.3(APRT):c.*122C>T	APRT	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
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 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)	Morquio syndrome +2 more	GBenign
Select item 321155	NM_000485.3(APRT):c.*182A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 256330	NM_000512.5(GALNS):c.*36G>A	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Adenine phosphoribosyltransferase deficiency +4 more	GBenign
Select item 203396	NM_000485.3(APRT):c.400+2dup	APRT	Duplication (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 128671	NM_030928.4(CDT1):c.1521G>A (p.Pro507=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 18302	NM_000485.3(APRT):c.542G>C (p.Ter181Ser)	APRT	Single nucleotide variant (stop lost +1 more)	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 18300	NM_000485.3(APRT):c.329T>C (p.Leu110Pro)	APRT (L110P)	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 18298	NM_000485.3(APRT):c.294G>A (p.Trp98Ter)	APRT (W98*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18297	NM_000485.3(APRT):c.194A>T (p.Asp65Val)	APRT (D65V)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
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

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