"Invitae"[submitter] AND "CPSF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 829516	NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs)	CPSF1 (V943fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1074846	NM_013291.3(CPSF1):c.2524dup (p.Glu842fs)	CPSF1 (E842fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 837526	NM_013291.3(CPSF1):c.1603_1604del (p.Met535fs)	CPSF1 (M535fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	TOP1MT, ZFTRAF1 +52 more	Deletion	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	ADCK5, CPSF1 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	CYC1, DGAT1 +28 more	Duplication	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	OPLAH, PARP10 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance

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