"Invitae"[submitter] AND "ATG2B"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735075	NM_018036.7(ATG2B):c.5905A>G (p.Ile1969Val)	ATG2B (I1969V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789063	NM_018036.7(ATG2B):c.5139+9C>T	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related condition +1 more	GBenign
Select item 789064	NM_018036.7(ATG2B):c.4899C>T (p.Leu1633=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related condition +1 more	GBenign
Select item 775103	NM_018036.7(ATG2B):c.4869G>A (p.Pro1623=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736637	NM_018036.7(ATG2B):c.3387G>A (p.Pro1129=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776858	NM_018036.7(ATG2B):c.3362-4C>G	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related condition +1 more	GBenign
Select item 776859	NM_018036.7(ATG2B):c.2988T>C (p.Asn996=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783698	NM_018036.7(ATG2B):c.1759T>C (p.Tyr587His)	ATG2B (Y587H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769866	NM_018036.7(ATG2B):c.1436A>G (p.Asn479Ser)	ATG2B (N479S)	Single nucleotide variant (missense variant)	ATG2B-related condition +1 more	GBenign
Select item 790149	NM_018036.7(ATG2B):c.1430C>T (p.Pro477Leu)	ATG2B (P477L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778519	NM_018036.7(ATG2B):c.1360G>A (p.Val454Met)	ATG2B (V454M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 789065	NM_018036.7(ATG2B):c.462T>C (p.Ala154=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related condition +1 more	GBenign
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	PAPOLA, PAPOLA-DT +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance