"GeneDx"[submitter] AND "BCL2L2-PABPN1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 1261404	NM_001199864.3(BCL2L2-PABPN1):c.433-2293_433-2292dup	BCL2L2-PABPN1, PABPN1	Duplication (intron variant)	not provided	GBenign
Select item 1262184	NM_001199864.3(BCL2L2-PABPN1):c.433-1746dup	BCL2L2-PABPN1, PABPN1	Duplication (intron variant)	not provided	GBenign
Select item 1278197	NM_001199864.3(BCL2L2-PABPN1):c.433-871A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326207	NM_001199864.3(BCL2L2-PABPN1):c.433-803A>C	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 503634	NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GPathogenic
Select item 280233	NM_004643.4(PABPN1):c.3GGC[9] (p.Ala10_Ala11dup)	PABPN1, BCL2L2-PABPN1	Microsatellite (inframe_insertion +2 more)	not provided	GPathogenic
Select item 279930	NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	Oculopharyngeal muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2502107	NM_004643.4(PABPN1):c.24A>G (p.Ala8=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1327685	NM_004643.4(PABPN1):c.31G>A (p.Ala11Thr)	BCL2L2-PABPN1, PABPN1 (A11T)	Single nucleotide variant (missense variant +1 more)	not provided +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 1270901	NM_004643.4(PABPN1):c.351+92dup	BCL2L2-PABPN1, PABPN1	Duplication (intron variant)	not provided	GBenign
Select item 1327830	NM_004643.4(PABPN1):c.351+165C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230691	NM_004643.4(PABPN1):c.352-168T>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225658	NM_004643.4(PABPN1):c.467-189T>C	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	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 1327832	NM_004643.4(PABPN1):c.534+73G>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295367	NM_004643.4(PABPN1):c.534+141A>C	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290337	NM_004643.4(PABPN1):c.641+163C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301516	NM_004643.4(PABPN1):c.642-103A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232806	NM_004643.4(PABPN1):c.730-42C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232969	NM_004643.4(PABPN1):c.882-255C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1225022	NM_004643.4(PABPN1):c.882-204_882-203insAA	BCL2L2-PABPN1, PABPN1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236573	NM_004643.4(PABPN1):c.882-132A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1300780	NM_004643.4(PABPN1):c.*77del	BCL2L2-PABPN1, PABPN1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 26