"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FERRY3" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 717449	NM_020374.4(FERRY3):c.1566+8A>G	FERRY3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2197457	NM_020374.4(FERRY3):c.1566+1G>C	FERRY3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 723335	NM_020374.4(FERRY3):c.1082T>C (p.Ile361Thr)	FERRY3 (I361T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2197319	NM_020374.4(FERRY3):c.815_818del (p.Glu272fs)	FERRY3 (E272fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2081241	NM_020374.4(FERRY3):c.484G>T (p.Glu162Ter)	FERRY3 (E162*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 736588	NM_020374.4(FERRY3):c.447T>C (p.Phe149=)	FERRY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, CCND2 +7 more	Deletion	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, CCND2 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	ANO2, DYRK4 +12 more	Duplication	Episodic ataxia type 1	GUncertain significance