"Ambry Genetics"[submitter] AND "AFG2B"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093019	NM_024063.3(AFG2B):c.26C>T (p.Pro9Leu)	AFG2B, LOC130056996 (P9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3093028	NM_024063.3(AFG2B):c.37C>G (p.Leu13Val)	AFG2B, LOC130056996 (L13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551509	NM_024063.3(AFG2B):c.74G>T (p.Gly25Val)	AFG2B (G25V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213777	NM_024063.3(AFG2B):c.136G>A (p.Ala46Thr)	AFG2B, LOC130056997 (A46T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274813	NM_024063.3(AFG2B):c.236C>T (p.Ala79Val)	AFG2B (A79V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550146	NM_024063.3(AFG2B):c.241C>T (p.Pro81Ser)	AFG2B (P81S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604525	NM_024063.3(AFG2B):c.244G>A (p.Gly82Arg)	AFG2B (G82R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348136	NM_024063.3(AFG2B):c.247G>A (p.Ala83Thr)	AFG2B (A83T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411522	NM_024063.3(AFG2B):c.376C>G (p.Arg126Gly)	AFG2B (R126G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093031	NM_024063.3(AFG2B):c.388G>A (p.Ala130Thr)	AFG2B (A130T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093037	NM_024063.3(AFG2B):c.389C>T (p.Ala130Val)	AFG2B (A130V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093040	NM_024063.3(AFG2B):c.403G>A (p.Ala135Thr)	AFG2B (A135T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274806	NM_024063.3(AFG2B):c.451G>A (p.Val151Ile)	AFG2B (V151I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532327	NM_024063.3(AFG2B):c.542G>A (p.Arg181His)	AFG2B (R181H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2549053	NM_024063.3(AFG2B):c.587C>T (p.Pro196Leu)	AFG2B (P196L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274810	NM_024063.3(AFG2B):c.607G>A (p.Gly203Arg)	AFG2B, LOC130056998 (G203R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530986	NM_024063.3(AFG2B):c.620A>G (p.Glu207Gly)	AFG2B, LOC130056998 (E207G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093053	NM_024063.3(AFG2B):c.674C>T (p.Ala225Val)	AFG2B, LOC130056998 (A225V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093057	NM_024063.3(AFG2B):c.679A>C (p.Thr227Pro)	AFG2B, LOC130056998 (T227P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093062	NM_024063.3(AFG2B):c.779C>T (p.Ala260Val)	AFG2B (A260V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093064	NM_024063.3(AFG2B):c.865G>T (p.Ala289Ser)	AFG2B (A289S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093067	NM_024063.3(AFG2B):c.884G>A (p.Arg295His)	AFG2B (R295H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214016	NM_024063.3(AFG2B):c.890C>T (p.Pro297Leu)	AFG2B (P297L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093074	NM_024063.3(AFG2B):c.919G>C (p.Ala307Pro)	AFG2B (A307P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249636	NM_024063.3(AFG2B):c.961G>T (p.Val321Leu)	AFG2B (V321L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347357	NM_024063.3(AFG2B):c.998G>T (p.Ser333Ile)	AFG2B (S333I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3092943	NM_024063.3(AFG2B):c.1148C>T (p.Ser383Leu)	AFG2B (S383L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621531	NM_024063.3(AFG2B):c.1160T>C (p.Ile387Thr)	AFG2B (I387T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570337	NM_024063.3(AFG2B):c.1183CTT[1] (p.Leu396del)	AFG2B (L396del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3092946	NM_024063.3(AFG2B):c.1207T>C (p.Tyr403His)	AFG2B (Y403H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363845	NM_024063.3(AFG2B):c.1208A>G (p.Tyr403Cys)	AFG2B (Y403C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092948	NM_024063.3(AFG2B):c.1241A>G (p.Glu414Gly)	AFG2B (E414G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608141	NM_024063.3(AFG2B):c.1253A>G (p.His418Arg)	AFG2B (H418R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370326	NM_024063.3(AFG2B):c.1283A>G (p.Asp428Gly)	AFG2B (D428G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092954	NM_024063.3(AFG2B):c.1289C>A (p.Pro430His)	AFG2B (P430H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277636	NM_024063.3(AFG2B):c.1408G>C (p.Glu470Gln)	AFG2B (E470Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241887	NM_024063.3(AFG2B):c.1477A>C (p.Met493Leu)	AFG2B (M493L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394553	NM_024063.3(AFG2B):c.1501G>T (p.Val501Phe)	AFG2B (V501F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245519	NM_024063.3(AFG2B):c.1502T>C (p.Val501Ala)	AFG2B (V501A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092973	NM_024063.3(AFG2B):c.1517C>G (p.Pro506Arg)	AFG2B (P506R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092977	NM_024063.3(AFG2B):c.1669A>C (p.Thr557Pro)	AFG2B (T557P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252590	NM_024063.3(AFG2B):c.1672C>G (p.Pro558Ala)	AFG2B (P558A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364794	NM_024063.3(AFG2B):c.1673C>G (p.Pro558Arg)	AFG2B (P558R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2394846	NM_024063.3(AFG2B):c.1705A>G (p.Ile569Val)	AFG2B (I569V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274818	NM_024063.3(AFG2B):c.1717C>G (p.Arg573Gly)	AFG2B (R573G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092987	NM_024063.3(AFG2B):c.1919G>A (p.Arg640Gln)	AFG2B (R640Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092991	NM_024063.3(AFG2B):c.1946A>G (p.Tyr649Cys)	AFG2B (Y649C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300410	NM_024063.3(AFG2B):c.1970G>C (p.Gly657Ala)	AFG2B (G657A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092996	NM_024063.3(AFG2B):c.2017C>T (p.Pro673Ser)	AFG2B (P673S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210149	NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)	AFG2B (G689V)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 2606015	NM_024063.3(AFG2B):c.2108C>G (p.Ala703Gly)	AFG2B (A703G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222797	NM_024063.3(AFG2B):c.2213A>G (p.Tyr738Cys)	AFG2B (Y738C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 52