ClinVar for Gene (Select 353) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308902	NM_000485.3(APRT):c.20A>G (p.Gln7Arg)	APRT, LOC130059760 (Q7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243662	NC_000016.9:g.(?_88851289)_(89383486_?)del	ACSF3, ANKRD11 +10 more	Deletion	not provided	GPathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3243321	NC_000016.9:g.(?_88851289)_(88909257_?)del	APRT, CDT1 +2 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
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 3128095	NM_000485.3(APRT):c.232G>A (p.Glu78Lys)	APRT (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 3023738	NM_000485.3(APRT):c.321+17G>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 3021749	NM_000485.3(APRT):c.108del (p.Ala37fs)	APRT (A37fs)	Deletion (frameshift variant)	not provided	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 2965031	NM_000485.3(APRT):c.187+18G>C	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961434	NM_000485.3(APRT):c.322-15C>G	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840982	NM_000485.3(APRT):c.400+18G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796942	NM_000485.3(APRT):c.388_397del (p.Leu130fs)	APRT (L130fs)	Deletion (frameshift variant)	not provided	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 2718440	NM_000485.3(APRT):c.354G>A (p.Glu118=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
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 2537501	NM_000485.3(APRT):c.181A>G (p.Ile61Val)	APRT (I61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2445490	NC_000016.9:g.(?_88870240)_(88878307_?)del	APRT, CDT1	Deletion	not provided	GPathogenic
Select item 2425844	NC_000016.9:g.(?_88870240)_(89484776_?)dup	ACSF3, ANKRD11 +9 more	Duplication	KBG syndrome	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	DPEP1, DEF8 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
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 2260513	NM_000485.3(APRT):c.20A>T (p.Gln7Leu)	APRT, LOC130059760 (Q7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212877	NM_000485.3(APRT):c.55T>C (p.Phe19Leu)	APRT, LOC130059760 (F19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182444	NM_000485.3(APRT):c.135C>T (p.Leu45=)	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 2115627	NM_000485.3(APRT):c.372CGT[1] (p.Val126del)	APRT (V126del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2102931	NM_000485.3(APRT):c.270G>A (p.Gly90=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2070367	NM_000485.3(APRT):c.185C>T (p.Ala62Val)	APRT (A62V)	Single nucleotide variant (missense variant)	APRT-related disorder +1 more	GBenign/Likely benign
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 1995501	NM_000485.3(APRT):c.16_17inv (p.Leu6Arg)	APRT, LOC130059760 (L6R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1983115	NM_000485.3(APRT):c.15G>C (p.Glu5Asp)	APRT, LOC130059760 (E5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966284	NM_000485.3(APRT):c.400+6G>A	APRT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1927273	NM_000485.3(APRT):c.322-1_322delinsAT	APRT	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1900905	NM_000485.3(APRT):c.92C>T (p.Pro31Leu)	APRT (P31L)	Single nucleotide variant (missense variant)	not provided	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 1803616	NC_000016.10:g.88811972G>A	APRT, LOC130059760	Single nucleotide variant	not provided	GLikely benign
Select item 1716922	NM_000485.3(APRT):c.53A>C (p.Asp18Ala)	APRT, LOC130059760 (D18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1638228	NM_000485.3(APRT):c.135C>G (p.Leu45=)	APRT	Single nucleotide variant (synonymous 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 1526543	GRCh37/hg19 16q24.3(chr16:88801603-89509853)	ACSF3, ANKRD11 +11 more	Copy number gain	not specified	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 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 1458416	NM_000485.3(APRT):c.279_283del (p.Gly94fs)	APRT (G94fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1452119	NM_000485.3(APRT):c.270del (p.Lys91fs)	APRT (K91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1420547	NM_000485.3(APRT):c.175G>A (p.Asp59Asn)	APRT (D59N)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency +2 more	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 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 1373054	NC_000016.9:g.(?_88798723)_(88909257_?)dup	APRT, CDT1 +2 more	Duplication	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
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 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 1341552	NC_000016.9:g.88365786_89584412del1218627	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
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 1293761	NM_000485.3(APRT):c.322-110G>C	APRT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256634	NM_000485.3(APRT):c.322-64C>G	APRT	Single nucleotide variant (intron 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 1237953	NM_000485.3(APRT):c.80+52G>T	APRT, LOC130059760	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234021	NM_000485.3(APRT):c.*327CAG[1]	APRT	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1233357	NM_000485.3(APRT):c.187+29G>C	APRT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221187	NM_000485.3(APRT):c.188-160C>T	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 1200071	NM_000485.3(APRT):c.322-126_322-123del	APRT	Deletion (intron variant)	not provided	GLikely benign
Select item 1187283	NM_000485.3(APRT):c.188-264G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181086	NM_000485.3(APRT):c.188-40T>C	APRT	Single nucleotide variant (intron variant)	not provided	GBenign
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 1135198	NM_000485.3(APRT):c.321+7G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1091416	NM_000485.3(APRT):c.288T>C (p.Thr96=)	APRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074796	NC_000016.9:g.(?_88709737)_(89220635_?)del	CYBA, ACSF3 +11 more	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 1071729	NM_000485.3(APRT):c.310G>T (p.Glu104Ter)	APRT (E104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1061584	NM_000485.3(APRT):c.127A>C (p.Ile43Leu)	APRT (I43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048367	NC_000016.10:g.(88810557_88811549)_(88841972_88842705)del	APRT, GALNS +2 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048365	NC_000016.10:g.88770428_88832724del	APRT, CDT1 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048364	NC_000016.10:g.88779266_88827672del	APRT, CDT1 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
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 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

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