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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769737	NM_144727.3(CRYGN):c.301G>A (p.Glu101Lys)	CRYGN (E101K)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 776275	NM_144727.3(CRYGN):c.15G>A (p.Ser5=)	CRYGN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	RHEB, SLC4A2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	RHEB, SLC4A2 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 830594	NC_000007.13:g.(?_150642443)_(151385353_?)dup	RHEB, SLC4A2 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 527120	NC_000007.13:g.(?_150642433)_(151573725_?)del	ABCF2, ABCB8 +19 more	Deletion	Long QT syndrome	GPathogenic