"GeneDx"[submitter] AND "AGTPBP1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1308441	NM_001330701.2(AGTPBP1):c.3527A>G (p.Glu1176Gly)	AGTPBP1 (E1136G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 599381	NM_001330701.2(AGTPBP1):c.2842C>T (p.Arg948Ter)	AGTPBP1 (R1000* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 599369	NM_001330701.2(AGTPBP1):c.2752C>T (p.Arg918Trp)	AGTPBP1 (R918W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3365771	NM_001330701.2(AGTPBP1):c.1705A>G (p.Lys569Glu)	AGTPBP1 (K529E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506865	NM_001330701.2(AGTPBP1):c.1182del (p.Phe394fs)	AGTPBP1 (F354fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3340642	NM_001330701.2(AGTPBP1):c.988C>T (p.Arg330Ter)	AGTPBP1 (R330* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2506626	NM_001330701.2(AGTPBP1):c.457G>A (p.Ala153Thr)	AGTPBP1 (A153T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201667	NM_001330701.2(AGTPBP1):c.-66del	AGTPBP1, LOC130001960 (R53fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506621	NM_001330701.2(AGTPBP1):c.-87T>G	AGTPBP1, LOC130001960	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1306421	NM_001330701.2(AGTPBP1):c.-88_-87delinsTC	AGTPBP1, LOC130001960 (A45V)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1296972	NM_001330701.2(AGTPBP1):c.-87T>C	AGTPBP1, LOC130001960	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1308442	NM_001330701.2(AGTPBP1):c.-206G>A	AGTPBP1, LOC130001960 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3360665	NM_001330701.2(AGTPBP1):c.3504-1G>T	AGTPBP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic