"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ATG9B"[ - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 797709	NM_000603.5(NOS3):c.3009C>T (p.Pro1003=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 711394	NM_000603.5(NOS3):c.3156A>G (p.Gln1052=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 759912	NM_000603.5(NOS3):c.3165T>C (p.His1055=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 728798	NM_000603.5(NOS3):c.3180G>A (p.Glu1060=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 709432	NM_000603.5(NOS3):c.3324G>C (p.Arg1108=)	NOS3, ATG9B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 744667	NM_000603.5(NOS3):c.3403G>A (p.Gly1135Ser)	ATG9B, NOS3 (G1135S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 789595	NM_000603.5(NOS3):c.3414G>A (p.Glu1138=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 741463	NM_000603.5(NOS3):c.3468C>T (p.His1156=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713974	NM_000603.5(NOS3):c.3474C>T (p.Asp1158=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734607	NM_000603.5(NOS3):c.3498C>A (p.Thr1166=)	ATG9B, NOS3	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 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	ABCB8, AOC1 +17 more	Deletion	Long QT syndrome	GPathogenic
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

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Items: 20