"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "POU2AF1 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 738438	NM_006235.3(POU2AF1):c.225T>C (p.Ser75=)	POU2AF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717711	NM_006235.3(POU2AF1):c.191-3C>T	POU2AF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786212	NM_006235.3(POU2AF1):c.181A>G (p.Thr61Ala)	POU2AF1 (T61A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725244	NM_006235.3(POU2AF1):c.148-4C>T	POU2AF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783646	NM_006235.3(POU2AF1):c.129A>G (p.Ala43=)	POU2AF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768482	NM_006235.3(POU2AF1):c.114C>T (p.His38=)	POU2AF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	LAYN, MIR34B +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	NKAPD1, NPAT +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	ALG9, BTG4 +20 more	Duplication	Pheochromocytoma +3 more	GUncertain significance
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	DIXDC1, ALG9 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic