"PreventionGenetics, part of Exact Sciences"[submitter] AND "PABPN1"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434545	NM_004643.4(PABPN1):c.-1G>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (5 prime UTR variant +1 more)	PABPN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 7368	NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)	BCL2L2-PABPN1, PABPN1 (G12A)	Single nucleotide variant (missense variant +1 more)	PABPN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 193289	NM_004643.4(PABPN1):c.186G>A (p.Leu62=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant +1 more)	PABPN1-related condition +2 more	GBenign
Select item 1262816	NM_004643.4(PABPN1):c.474G>A (p.Pro158=)	PABPN1, BCL2L2-PABPN1	Single nucleotide variant (synonymous variant)	PABPN1-related condition +1 more	GBenign
Select item 291058	NM_004643.4(PABPN1):c.787C>A (p.Arg263=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant)	BCL2L2-PABPN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3044420	NM_004643.4(PABPN1):c.801C>T (p.Arg267=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant)	PABPN1-related condition	GLikely benign

ClinVar