"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "UPF1"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 711530	NM_002911.4(UPF1):c.630-10C>T	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788468	NM_002911.4(UPF1):c.1251G>A (p.Ser417=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790755	NM_002911.4(UPF1):c.1635C>T (p.Cys545=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788142	NM_002911.4(UPF1):c.1869G>A (p.Pro623=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777295	NM_002911.4(UPF1):c.2247C>T (p.Tyr749=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784714	NM_002911.4(UPF1):c.3134C>T (p.Ala1045Val)	UPF1 (A1045V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749834	NM_002911.4(UPF1):c.3237+8C>T	UPF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 6747	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	CERS1, GDF1 +1 more (C227*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6 +3 more	GPathogenic/Likely pathogenic
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance