"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 893911	NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	AGPS, LOC129935172 (A22T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332510	NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)	AGPS, LOC129935172 (A22G)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GConflicting classifications of pathogenicity
Select item 332512	NM_003659.4(AGPS):c.83A>T (p.Asp28Val)	AGPS, LOC129935172 (D28V)	Single nucleotide variant (missense variant)	not provided +1 more	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 790910	NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	AGPS, LOC129935172 (R50W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157712	NM_003659.4(AGPS):c.207A>G (p.Ala69=)	AGPS	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3 +2 more	GBenign
Select item 218623	NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)	AGPS (T72A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 157713	NM_003659.4(AGPS):c.261-5A>C	AGPS	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +2 more	GBenign
Select item 995618	NM_003659.4(AGPS):c.563-10del	AGPS	Deletion (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign
Select item 332515	NM_003659.4(AGPS):c.637+13C>T	AGPS	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811158	NM_003659.4(AGPS):c.1135A>G (p.Ile379Val)	AGPS (I379V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 157710	NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	AGPS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1581218	NM_003659.4(AGPS):c.1233+13AT[7]	AGPS	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 289429	NM_003659.4(AGPS):c.1380A>C (p.Pro460=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1134450	NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 1330839	NM_003659.4(AGPS):c.1797+11A>G	AGPS	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GLikely benign