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

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 683748	NM_003659.3(AGPS):c.-304G>A	AGPS, LOC100130691	Single nucleotide variant	not provided	GBenign
Select item 1257129	NC_000002.12:g.177392624G>C	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1213247	NC_000002.12:g.177392631G>A	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 675020	NM_003659.3(AGPS):c.-127G>A	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 383646	NM_003659.4(AGPS):c.20C>T (p.Ala7Val)	AGPS, LOC129935172 (A7V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 332509	NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)	AGPS, LOC129935172 (G12D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2078247	NM_003659.4(AGPS):c.97_98insCGGGCC (p.Asp32_Arg33insProGly)	AGPS, LOC129935172	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 157711	NM_003659.4(AGPS):c.147C>T (p.Pro49=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 157712	NM_003659.4(AGPS):c.207A>G (p.Ala69=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1263167	NM_003659.4(AGPS):c.260+62A>C	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286587	NM_003659.4(AGPS):c.260+324T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208280	NM_003659.4(AGPS):c.261-175T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 157713	NM_003659.4(AGPS):c.261-5A>C	AGPS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1287697	NM_003659.4(AGPS):c.350+95G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190306	NM_003659.4(AGPS):c.350+203TA[6]	AGPS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1217216	NM_003659.4(AGPS):c.350+215A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235182	NM_003659.4(AGPS):c.350+273dup	AGPS	Duplication (intron variant)	not provided	GBenign
Select item 1196740	NM_003659.4(AGPS):c.351-198T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683752	NM_003659.4(AGPS):c.351-194G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206894	NM_003659.4(AGPS):c.441+77T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683753	NM_003659.4(AGPS):c.442-325T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208976	NM_003659.4(AGPS):c.442-88G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184750	NM_003659.4(AGPS):c.442-64C>T	AGPS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 332515	NM_003659.4(AGPS):c.637+13C>T	AGPS	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 683755	NM_003659.4(AGPS):c.637+275A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683756	NM_003659.4(AGPS):c.638-256A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289803	NM_003659.4(AGPS):c.789+116C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187591	NM_003659.4(AGPS):c.870+227G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234393	NM_003659.4(AGPS):c.871-151A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268933	NM_003659.4(AGPS):c.871-129dup	AGPS	Duplication (intron variant)	not provided	GBenign
Select item 1269661	NM_003659.4(AGPS):c.871-129del	AGPS	Deletion (intron variant)	not provided	GBenign
Select item 1270444	NM_003659.4(AGPS):c.996+92C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241404	NM_003659.4(AGPS):c.996+101G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220564	NM_003659.4(AGPS):c.996+148G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683770	NM_003659.4(AGPS):c.996+206A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212024	NM_003659.4(AGPS):c.996+257C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192075	NM_003659.4(AGPS):c.1105+339G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671961	NM_003659.4(AGPS):c.1106-213T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285734	NM_003659.4(AGPS):c.1106-129_1106-120del	AGPS	Deletion (intron variant)	not provided	GBenign
Select item 157710	NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 683772	NM_003659.4(AGPS):c.1234-232_1234-231insAAA	AGPS	Insertion (intron variant)	not provided	GBenign
Select item 683774	NM_003659.4(AGPS):c.1234-231G>C	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197551	NM_003659.4(AGPS):c.1234-228T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277364	NM_003659.4(AGPS):c.1234-39A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683775	NM_003659.4(AGPS):c.1285+145C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683777	NM_003659.4(AGPS):c.1285+306G>T	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253797	NM_003659.4(AGPS):c.1362+44A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184751	NM_003659.4(AGPS):c.1362+79G>A	AGPS	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign
Select item 1222859	NM_003659.4(AGPS):c.1363-345C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293736	NM_003659.4(AGPS):c.1475+33G>C	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196325	NM_003659.4(AGPS):c.1476-238_1476-235del	AGPS	Deletion (intron variant)	not provided	GLikely benign
Select item 683779	NM_003659.4(AGPS):c.1476-194T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244120	NM_003659.4(AGPS):c.1476-21_1476-20del	AGPS	Deletion (intron variant)	not provided	GBenign
Select item 1240575	NM_003659.4(AGPS):c.1545+77T>A	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231638	NM_003659.4(AGPS):c.1545+125C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186786	NM_003659.4(AGPS):c.1546-159G>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205535	NM_003659.4(AGPS):c.1607+171G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184752	NM_003659.4(AGPS):c.1608-95T>A	AGPS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 512235	NM_003659.4(AGPS):c.1632A>G (p.Val544=)	AGPS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 332522	NM_003659.4(AGPS):c.1698-14T>C	AGPS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 559044	NM_003659.4(AGPS):c.1704G>A (p.Thr568=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1218963	NM_003659.4(AGPS):c.1797+99C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683780	NM_003659.4(AGPS):c.1798-312T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201676	NM_003659.4(AGPS):c.1855+85T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259117	NM_003659.4(AGPS):c.1856-16G>T	AGPS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 682370	NM_003659.4(AGPS):c.1856-15A>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 3359693	NM_003659.4(AGPS):c.449T>G (p.Leu150Ter)	AGPS (L150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 70