"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATG2B"[ge - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1337707	NM_018036.7(ATG2B):c.6168C>T (p.Gly2056=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder +1 more	GLikely benign
Select item 3039091	NM_018036.7(ATG2B):c.6150G>A (p.Thr2050=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3045990	NM_018036.7(ATG2B):c.5941C>G (p.Arg1981Gly)	ATG2B (R1981G)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3050014	NM_018036.7(ATG2B):c.5219-4del	ATG2B	Deletion (intron variant)	ATG2B-related disorder	GLikely benign
Select item 789063	NM_018036.7(ATG2B):c.5139+9C>T	ATG2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3058524	NM_018036.7(ATG2B):c.5109G>A (p.Ser1703=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 1281030	NM_018036.7(ATG2B):c.5103A>C (p.Arg1701Ser)	ATG2B (R1701S)	Single nucleotide variant (missense variant)	ATG2B-related disorder +1 more	GBenign
Select item 789064	NM_018036.7(ATG2B):c.4899C>T (p.Leu1633=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3051990	NM_018036.7(ATG2B):c.4602G>A (p.Thr1534=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3057870	NM_018036.7(ATG2B):c.4161+4C>T	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder	GLikely benign
Select item 3045012	NM_018036.7(ATG2B):c.4079T>C (p.Ile1360Thr)	ATG2B (I1360T)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GBenign
Select item 3056752	NM_018036.7(ATG2B):c.3433C>T (p.Pro1145Ser)	ATG2B (P1145S)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 776858	NM_018036.7(ATG2B):c.3362-4C>G	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder +1 more	GBenign
Select item 3051316	NM_018036.7(ATG2B):c.3266A>G (p.Asn1089Ser)	ATG2B (N1089S)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 1337836	NM_018036.7(ATG2B):c.2908C>T (p.Pro970Ser)	ATG2B (P970S)	Single nucleotide variant (missense variant)	ATG2B-related disorder +1 more	GLikely benign
Select item 3045383	NM_018036.7(ATG2B):c.2819C>T (p.Thr940Met)	ATG2B (T940M)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3035093	NM_018036.7(ATG2B):c.2438-4_2438-3dup	ATG2B	Duplication (intron variant)	ATG2B-related disorder	GLikely benign
Select item 3043846	NM_018036.7(ATG2B):c.2322A>T (p.Ser774=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3050631	NM_018036.7(ATG2B):c.2289T>G (p.Ser763=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3042931	NM_018036.7(ATG2B):c.1881+5A>G	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder	GLikely benign
Select item 769866	NM_018036.7(ATG2B):c.1436A>G (p.Asn479Ser)	ATG2B (N479S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3036620	NM_018036.7(ATG2B):c.1405C>G (p.Gln469Glu)	ATG2B (Q469E)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3038315	NM_018036.7(ATG2B):c.1374T>C (p.Thr458=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 1337053	NM_018036.7(ATG2B):c.1205G>A (p.Arg402His)	ATG2B (R402H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3050648	NM_018036.7(ATG2B):c.925-9T>C	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder	GLikely benign
Select item 1336087	NM_018036.7(ATG2B):c.669C>T (p.Leu223=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder +1 more	GBenign
Select item 1337056	NM_018036.7(ATG2B):c.653A>G (p.His218Arg)	ATG2B (H218R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 789065	NM_018036.7(ATG2B):c.462T>C (p.Ala154=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3046468	NM_018036.7(ATG2B):c.379T>C (p.Leu127=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3056484	NM_018036.7(ATG2B):c.12G>A (p.Pro4=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GBenign

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Items: 30