AFG2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	DUOXA1, DUOXA2 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 1265267	NM_024063.3(AFG2B):c.-25C>T	AFG2B, LOC130056996	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 504204	NM_024063.3(AFG2B):c.1A>T (p.Met1Leu)	AFG2B, LOC130056996 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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	GUncertain significance
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 1275862	NM_024063.3(AFG2B):c.76A>G (p.Thr26Ala)	AFG2B (T26A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581994	NM_024063.3(AFG2B):c.82C>T (p.Arg28Cys)	AFG2B (R28C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210112	NM_024063.3(AFG2B):c.85T>G (p.Cys29Gly)	AFG2B (C29G)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GLikely pathogenic
Select item 2691764	NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)	AFG2B (G32D)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity	GUncertain significance
Select item 3042678	NM_024063.3(AFG2B):c.120C>T (p.Gly40=)	AFG2B, LOC130056997	Single nucleotide variant (synonymous variant +1 more)	AFG2B-related condition	GLikely benign
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 1235297	NM_024063.3(AFG2B):c.141G>T (p.Val47=)	AFG2B, LOC130056997	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1275865	NM_024063.3(AFG2B):c.190C>T (p.Arg64Trp)	AFG2B, LOC130056997 (R64W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1316371	NM_024063.3(AFG2B):c.191G>A (p.Arg64Gln)	AFG2B, LOC130056997 (R64Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1275859	NM_024063.3(AFG2B):c.196G>T (p.Asp66Tyr)	AFG2B, LOC130056997 (D66Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1185568	NM_024063.3(AFG2B):c.213T>G (p.Phe71Leu)	AFG2B (F71L)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +1 more	GUncertain significance
Select item 1185004	NM_024063.3(AFG2B):c.[213T>G;1313T>C]	AFG2B (F71L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +6 more	GLikely pathogenic
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 2582932	NM_024063.3(AFG2B):c.310T>C (p.Cys104Arg)	AFG2B (C104R)	Single nucleotide variant (missense variant +1 more)	not provided	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 1275864	NM_024063.3(AFG2B):c.515C>A (p.Pro172His)	AFG2B (P172H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 976779	NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	AFG2B (G176V)	Single nucleotide variant (missense variant +1 more)	AFG2B-related condition +5 more	GPathogenic/Likely pathogenic
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 1321879	NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)	AFG2B, LOC130056998 (E207fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
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 2645306	NM_024063.3(AFG2B):c.675C>T (p.Ala225=)	AFG2B, LOC130056998	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1275861	NM_024063.3(AFG2B):c.734T>A (p.Val245Glu)	AFG2B, LOC130056998 (V245E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1676851	NM_024063.3(AFG2B):c.755G>A (p.Arg252Gln)	AFG2B (R252Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1711381	NM_024063.3(AFG2B):c.821G>T (p.Arg274Leu)	AFG2B (R274L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2581993	NM_024063.3(AFG2B):c.863G>C (p.Arg288Pro)	AFG2B (R288P)	Single nucleotide variant (missense variant +1 more)	not provided	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 1273591	NM_024063.3(AFG2B):c.985C>T (p.Leu329=)	AFG2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2347357	NM_024063.3(AFG2B):c.998G>T (p.Ser333Ile)	AFG2B (S333I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1244052	NM_024063.3(AFG2B):c.1068G>A (p.Arg356=)	AFG2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1275863	NM_024063.3(AFG2B):c.1079T>C (p.Phe360Ser)	AFG2B (F360S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 976741	NM_024063.3(AFG2B):c.1090-2A>G	AFG2B	Single nucleotide variant (splice acceptor variant)	SPATA5L1-associated disorder	GPathogenic
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 2506854	NM_024063.3(AFG2B):c.1190C>A (p.Ala397Glu)	AFG2B (A397E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 976742	NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	AFG2B (T400I)	Single nucleotide variant (missense variant +1 more)	AFG2B-related condition +2 more	GPathogenic/Likely pathogenic
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 1701257	NM_024063.3(AFG2B):c.1218C>T (p.Ala406=)	AFG2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3065737	NM_024063.3(AFG2B):c.1304_1305del (p.Ile435fs)	AFG2B (I435fs)	Deletion (frameshift variant +1 more)	Hearing loss, autosomal recessive 119	GPathogenic
Select item 1185569	NM_024063.3(AFG2B):c.1313T>C (p.Leu438Pro)	AFG2B (L438P)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity	GLikely pathogenic
Select item 1275860	NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met)	AFG2B (I466M)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
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 2583169	NM_024063.3(AFG2B):c.1526G>T (p.Cys509Phe)	AFG2B (C509F)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity	GUncertain significance
Select item 976743	NM_024063.3(AFG2B):c.1556C>A (p.Ala519Asp)	AFG2B (A519D)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +1 more	GConflicting classifications of pathogenicity
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 1210110	NM_024063.3(AFG2B):c.1676del (p.Ala559fs)	AFG2B (A559fs)	Deletion (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 1210111	NM_024063.3(AFG2B):c.1682T>C (p.Leu561Ser)	AFG2B (L561S)	Single nucleotide variant (missense variant +1 more)	See cases	GLikely pathogenic
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 3025482	NM_024063.3(AFG2B):c.1721C>T (p.Ser574Leu)	AFG2B (S574L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1275866	NM_024063.3(AFG2B):c.1826C>G (p.Ser609Ter)	AFG2B (S609*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 976744	NM_024063.3(AFG2B):c.1973G>A (p.Arg658Lys)	AFG2B (R658K)	Single nucleotide variant (missense variant +1 more)	SPATA5L1-associated disorder	GLikely pathogenic
Select item 2921064	NM_024063.3(AFG2B):c.1976T>C (p.Leu659Pro)	AFG2B (L659P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 976745	NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg)	AFG2B (M669R)	Single nucleotide variant (missense variant +1 more)	SPATA5L1-associated disorder	GLikely pathogenic
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 2430474	NM_024063.3(AFG2B):c.2060_2062del (p.Phe687del)	AFG2B (F687del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1210149	NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)	AFG2B (G689V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +3 more	GConflicting classifications of pathogenicity
Select item 1700127	NM_024063.3(AFG2B):c.2087G>T (p.Cys696Phe)	AFG2B (C696F)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 1321878	NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs)	AFG2B (Q716fs)	Deletion (frameshift variant +1 more)	Hearing loss, autosomal recessive 119	GPathogenic
Select item 976746	NM_024063.3(AFG2B):c.2176_2177del (p.Val726fs)	AFG2B (V726fs)	Deletion (frameshift variant +1 more)	SPATA5L1-associated disorder	GPathogenic
Select item 2645307	NM_024063.3(AFG2B):c.2184G>A (p.Pro728=)	AFG2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic

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