"GeneDx"[submitter] AND "AP4S1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 380897	NM_001128126.3(AP4S1):c.-77G>A	AP4S1, STRN3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 669811	NM_001128126.3(AP4S1):c.-71-275A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194941	NM_001128126.3(AP4S1):c.-71-245C>T	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235054	NM_001128126.3(AP4S1):c.-71-215C>T	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 434248	NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)	AP4S1 (K10R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1305682	NM_001128126.3(AP4S1):c.98C>G (p.Thr33Arg)	AP4S1 (T33R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 234925	NM_001128126.3(AP4S1):c.138+3_138+6del	AP4S1	Microsatellite (splice donor variant)	Neurodevelopmental disorder +5 more	GPathogenic
Select item 1192441	NM_001128126.3(AP4S1):c.138+63G>C	AP4S1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1286500	NM_001128126.3(AP4S1):c.138+216C>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217187	NM_001128126.3(AP4S1):c.139-275C>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678006	NM_001128126.3(AP4S1):c.139-110A>G	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia 52, autosomal recessive +1 more	GBenign
Select item 1190022	NM_001128126.3(AP4S1):c.139-90C>T	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192442	NM_001128126.3(AP4S1):c.139-65C>G	AP4S1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266077	NM_001128126.3(AP4S1):c.226-227dup	AP4S1	Duplication (intron variant)	not provided	GBenign
Select item 1200510	NM_001128126.3(AP4S1):c.226-198C>A	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680071	NM_001128126.3(AP4S1):c.226-172_226-169del	AP4S1	Deletion (intron variant)	not provided	GBenign
Select item 234924	NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	AP4S1 (R97*)	Single nucleotide variant (nonsense)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 279680	NM_001128126.3(AP4S1):c.294+1G>T	AP4S1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1183794	NM_001128126.3(AP4S1):c.294+145A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228331	NM_001128126.3(AP4S1):c.294+227dup	AP4S1	Duplication (intron variant)	not provided	GBenign
Select item 1289643	NM_001128126.3(AP4S1):c.294+227del	AP4S1	Deletion (intron variant)	not provided	GBenign
Select item 1263407	NM_001128126.3(AP4S1):c.294+239A>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296439	NM_001128126.3(AP4S1):c.294+247A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232344	NM_001128126.3(AP4S1):c.294+283T>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181651	NM_001128126.3(AP4S1):c.294+284A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205120	NM_001128126.3(AP4S1):c.294+288T>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188719	NM_001128126.3(AP4S1):c.294+293A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219192	NM_001128126.3(AP4S1):c.294+296T>A	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269110	NM_001128126.3(AP4S1):c.294+300A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251533	NM_001128126.3(AP4S1):c.295-160T>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192443	NM_001128126.3(AP4S1):c.295-34T>G	AP4S1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 210218	NM_001128126.3(AP4S1):c.295-3C>A	AP4S1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 210219	NM_001128126.3(AP4S1):c.306+42G>A	AP4S1 (M116I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 667985	NM_001128126.3(AP4S1):c.306+3930T>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 210220	NM_001128126.3(AP4S1):c.306+4182dup	AP4S1	Duplication (intron variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 128407	NM_001128126.3(AP4S1):c.306+4191A>G	AP4S1 (I125V +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1179874	NM_001128126.3(AP4S1):c.306+4345C>G	AP4S1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1211565	NM_001128126.3(AP4S1):c.306+4377C>T	AP4S1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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Items: 41