"Baylor Genetics"[submitter] AND "AGPS"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674880	NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)	AGPS (W96*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674935	NM_003659.4(AGPS):c.301dup (p.Ser101fs)	AGPS (S101fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 3241201	NM_003659.4(AGPS):c.505A>T (p.Lys169Ter)	AGPS (K169*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 944256	NM_003659.4(AGPS):c.544C>T (p.Arg182Ter)	AGPS (R182*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2674902	NM_003659.4(AGPS):c.557_562+5del	AGPS	Deletion (splice donor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674943	NM_003659.4(AGPS):c.562+1G>A	AGPS	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 3241205	NM_003659.4(AGPS):c.580delinsCC (p.Ile194fs)	AGPS (I194fs)	Indel (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674927	NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)	AGPS (E199*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674952	NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)	AGPS (R204*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674919	NM_003659.4(AGPS):c.637+2T>A	AGPS	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674962	NM_003659.4(AGPS):c.710-2A>G	AGPS	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674965	NM_003659.4(AGPS):c.918_919del (p.Glu306fs)	AGPS (E306fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 6646	NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	AGPS (T309I)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 6645	NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	AGPS (R419H)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674959	NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)	AGPS (Y513fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674911	NM_003659.4(AGPS):c.1546-84_1591dup	AGPS	Duplication (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674897	NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)	AGPS (E520fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674887	NM_003659.4(AGPS):c.1608-1G>A	AGPS	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 625773	GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259)	AGPS, EVX2 +17 more	Copy number loss	not provided	GPathogenic