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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709848	NM_001005388.3(NFASC):c.476C>T (p.Thr159Met)	NFASC (T159M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 719373	NM_001005388.3(NFASC):c.495G>A (p.Pro165=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 784969	NM_001005388.3(NFASC):c.1023C>T (p.Asp341=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 722693	NM_001005388.3(NFASC):c.1260C>T (p.Asn420=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777984	NM_001005388.3(NFASC):c.1509C>T (p.Ala503=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723068	NM_001005388.3(NFASC):c.1601G>A (p.Arg534Lys)	NFASC (R545K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723069	NM_001005388.3(NFASC):c.1614G>A (p.Thr538=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723070	NM_001005388.3(NFASC):c.1696A>G (p.Ile566Val)	NFASC (I560V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723071	NM_001005388.3(NFASC):c.1722C>T (p.Asp574=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2160274	NM_001005388.3(NFASC):c.1987G>A (p.Val663Ile)	NFASC (V674I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 770333	NM_001005388.3(NFASC):c.2601G>C (p.Gly867=)	NFASC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792387	NM_001005388.3(NFASC):c.3290-6C>T	NFASC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance