"GeneDx"[submitter] AND "APRT"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 321156	NM_000485.3(APRT):c.*178A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign
Select item 321161	NM_000485.3(APRT):c.*47T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +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 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 1181086	NM_000485.3(APRT):c.188-40T>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 1187283	NM_000485.3(APRT):c.188-264G>A	APRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233357	NM_000485.3(APRT):c.187+29G>C	APRT	Single nucleotide variant (intron variant)	not provided	GBenign
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 1237953	NM_000485.3(APRT):c.80+52G>T	APRT, LOC130059760	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369134	NC_000016.10:g.88811949G>T	GALNS, LOC130059760 +1 more	Single nucleotide variant	Adenine phosphoribosyltransferase deficiency +2 more	GBenign/Likely benign
Select item 1803616	NC_000016.10:g.88811972G>A	APRT, LOC130059760	Single nucleotide variant	not provided	GLikely benign
Select item 321176	NM_000512.5(GALNS):c.*367T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +3 more	GBenign
Select item 321177	NM_000512.5(GALNS):c.*296A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 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 256330	NM_000512.5(GALNS):c.*36G>A	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign
Select item 253986	GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	ACSF3, ANKRD11 +24 more	Copy number gain	See cases	GUncertain significance
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 29