51412[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1188858	NM_016188.5(ACTL6B):c.*98T>A	ACTL6B	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 76 +1 more	GBenign
Select item 635102	NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?)	ACTL6B	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 76 +1 more	GPathogenic/Likely pathogenic
Select item 692140	NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)	ACTL6B (C425*)	Single nucleotide variant (nonsense +1 more)	ACTL6B-related BAFopathy +1 more	GConflicting classifications of pathogenicity
Select item 599301	NM_016188.5(ACTL6B):c.1261_1275del (p.Val421_Cys425del)	ACTL6B	Deletion (inframe_deletion +1 more)	ACTL6B-related neurodevelopmental disorder	GLikely pathogenic
Select item 2500136	NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)	ACTL6B (R423*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 1177328	NM_016188.5(ACTL6B):c.1260C>A (p.Cys420Ter)	ACTL6B (C420*)	Single nucleotide variant (nonsense +1 more)	ACTL6B-related BAFopathy	GLikely pathogenic
Select item 1344720	NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)	ACTL6B (G417W)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 3034696	NM_016188.5(ACTL6B):c.1242G>A (p.Glu414=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	ACTL6B-related condition	GLikely benign
Select item 828181	NM_016188.5(ACTL6B):c.1231C>T (p.Gln411Ter)	ACTL6B (Q411*)	Single nucleotide variant (nonsense +1 more)	ACTL6B-related recessive epilepsy	GLikely pathogenic
Select item 1679718	NM_016188.5(ACTL6B):c.1225del (p.Ser409fs)	ACTL6B (S409fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 1687194	NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)	ACTL6B (W407R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 2597501	NM_016188.5(ACTL6B):c.1186A>G (p.Ile396Val)	ACTL6B (I396V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052141	NM_016188.5(ACTL6B):c.1184C>G (p.Ser395Cys)	ACTL6B (S395C)	Single nucleotide variant (missense variant +1 more)	ACTL6B-related condition	GUncertain significance
Select item 1344715	NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)	ACTL6B (G393R)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 2581726	NM_016188.5(ACTL6B):c.1171T>G (p.Trp391Gly)	ACTL6B (W391G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636422	NM_016188.5(ACTL6B):c.1156C>T (p.Arg386Cys)	ACTL6B (R386C)	Single nucleotide variant (missense variant +1 more)	ACTL6B-related condition	GUncertain significance
Select item 1695200	NM_016188.5(ACTL6B):c.1121G>A (p.Arg374Gln)	ACTL6B (R374Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2500135	NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)	ACTL6B (R374*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 2500134	NM_016188.5(ACTL6B):c.1114-1G>A	ACTL6B	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 2429721	NM_016188.5(ACTL6B):c.1111C>G (p.Pro371Ala)	ACTL6B (P371A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 828105	NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)	ACTL6B (R363*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic/Likely pathogenic
Select item 2321170	NM_016188.5(ACTL6B):c.1048G>A (p.Gly350Arg)	ACTL6B (G350R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 635101	NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	ACTL6B (G349S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 1705593	NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)	ACTL6B (G343W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with severe speech and ambulation defects	GLikely pathogenic
Select item 430804	NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	ACTL6B (G343R)	Single nucleotide variant (missense variant +1 more)	ACTL6B-related BAFopathy +4 more	GPathogenic/Likely pathogenic
Select item 2431404	NM_016188.5(ACTL6B):c.1016C>T (p.Pro339Leu)	ACTL6B (P339L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 2438849	NM_016188.5(ACTL6B):c.1010T>C (p.Ile337Thr)	ACTL6B (I337T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 982902	NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His)	ACTL6B (D334H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 635099	NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter)	ACTL6B (C333*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 2438850	NM_016188.5(ACTL6B):c.998G>A (p.Cys333Tyr)	ACTL6B (C333Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804806	NM_016188.5(ACTL6B):c.993C>T (p.Gly331=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1879695	NM_016188.5(ACTL6B):c.936+5G>C	ACTL6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3067553	NM_016188.5(ACTL6B):c.899G>A (p.Arg300His)	ACTL6B (R300H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 402140	NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)	ACTL6B (R298Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GLikely pathogenic
Select item 1344717	NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)	ACTL6B (R298*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 1098621	NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys)	ACTL6B (E297K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 2657751	NM_016188.5(ACTL6B):c.885C>T (p.Gly295=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2500133	NM_016188.5(ACTL6B):c.884G>A (p.Gly295Asp)	ACTL6B (G295D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2500132	NM_016188.5(ACTL6B):c.880T>G (p.Tyr294Asp)	ACTL6B (Y294D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 1695201	NM_016188.5(ACTL6B):c.852C>T (p.Tyr284=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 692141	NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)	ACTL6B (Y284*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2501598	NM_016188.5(ACTL6B):c.833A>G (p.Gln278Arg)	ACTL6B (Q278R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500131	NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)	ACTL6B (Q278*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 635100	NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)	ACTL6B (Q274*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2212661	NM_016188.5(ACTL6B):c.814G>A (p.Asp272Asn)	ACTL6B (D272N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2657752	NM_016188.5(ACTL6B):c.786C>T (p.Ser262=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657753	NM_016188.5(ACTL6B):c.770A>G (p.Gln257Arg)	ACTL6B (Q257R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500144	NM_016188.5(ACTL6B):c.760-1G>A	ACTL6B	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 692142	NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)	ACTL6B (W247*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76 +1 more	GLikely pathogenic
Select item 635104	NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)	ACTL6B (Q242*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2500143	NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)	ACTL6B (K237del)	Microsatellite (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 2571288	NM_016188.5(ACTL6B):c.699C>T (p.Asn233=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2500142	NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)	ACTL6B (N233fs)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2442028	NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)	ACTL6B (P232R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 828180	NM_016188.5(ACTL6B):c.695del (p.Pro232fs)	ACTL6B (P232fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 76 +2 more	GConflicting classifications of pathogenicity
Select item 2598129	NM_016188.5(ACTL6B):c.679C>T (p.Arg227Trp)	ACTL6B (R227W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 828182	NM_016188.5(ACTL6B):c.669+1G>A	ACTL6B	Single nucleotide variant (splice donor variant)	ACTL6B-related recessive epilepsy	GLikely pathogenic
Select item 2657754	NM_016188.5(ACTL6B):c.660C>T (p.Ile220=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1335955	NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)	ACTL6B (Y218H)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2500141	NM_016188.5(ACTL6B):c.628del (p.Met210fs)	ACTL6B (M210fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 635105	NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)	ACTL6B (L206P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 1315058	NM_016188.5(ACTL6B):c.603G>A (p.Met201Ile)	ACTL6B (M201I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064442	NM_016188.5(ACTL6B):c.595A>T (p.Ile199Phe)	ACTL6B (I199F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 2657755	NM_016188.5(ACTL6B):c.588G>C (p.Gly196=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	ACTL6B-related condition +1 more	GLikely benign
Select item 2635147	NM_016188.5(ACTL6B):c.562+5G>A	ACTL6B	Single nucleotide variant (intron variant)	ACTL6B-related condition	GUncertain significance
Select item 692138	NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)	ACTL6B (Q186*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 1702533	NM_016188.5(ACTL6B):c.554T>C (p.Leu185Pro)	ACTL6B (L185P)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with severe speech and ambulation defects	GLikely pathogenic
Select item 3048125	NM_016188.5(ACTL6B):c.546C>T (p.Gly182=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	ACTL6B-related condition	GLikely benign
Select item 2633396	NM_016188.5(ACTL6B):c.538C>T (p.His180Tyr)	ACTL6B (H180Y)	Single nucleotide variant (missense variant +1 more)	ACTL6B-related condition	GUncertain significance
Select item 1344718	NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)	ACTL6B (T175P)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 1414282	NM_016188.5(ACTL6B):c.520A>G (p.Thr174Ala)	ACTL6B (T174A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500140	NM_016188.5(ACTL6B):c.497T>C (p.Val166Ala)	ACTL6B (V166A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 1706704	NM_016188.5(ACTL6B):c.478G>A (p.Gly160Arg)	ACTL6B (G160R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344719	NM_016188.5(ACTL6B):c.465del (p.Ala156fs)	ACTL6B (A156fs)	Deletion (non-coding transcript variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 1344716	NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)	ACTL6B (L154F)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 3068401	NM_016188.5(ACTL6B):c.445del (p.Cys149fs)	ACTL6B (C149fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with severe speech and ambulation defects	GLikely pathogenic
Select item 635103	NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	ACTL6B (F147del)	Microsatellite (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 76	GConflicting classifications of pathogenicity
Select item 933910	NM_016188.5(ACTL6B):c.407_410dup (p.Met137fs)	ACTL6B (M137fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 692139	NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)	ACTL6B (R130Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 1335956	NM_016188.5(ACTL6B):c.388C>T (p.Arg130Trp)	ACTL6B (R130W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1701529	NM_016188.5(ACTL6B):c.387G>A (p.Lys129=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1709092	NM_016188.5(ACTL6B):c.375C>A (p.Asn125Lys)	ACTL6B (N125K)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with severe speech and ambulation defects	GLikely pathogenic
Select item 2500139	NM_016188.5(ACTL6B):c.370-1G>A	ACTL6B	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 2431410	NM_016188.5(ACTL6B):c.369+1G>C	ACTL6B	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2438845	NM_016188.5(ACTL6B):c.356T>C (p.Met119Thr)	ACTL6B (M119T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438848	NM_016188.5(ACTL6B):c.329C>T (p.Ser110Phe)	ACTL6B (S110F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692137	NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)	ACTL6B (R97*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 2500138	NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)	ACTL6B (W93*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GPathogenic
Select item 2323789	NM_016188.5(ACTL6B):c.245T>A (p.Met82Lys)	ACTL6B (M82K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 635107	NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)	ACTL6B (D77G)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with severe speech and ambulation defects	GUncertain significance
Select item 983412	NM_016188.5(ACTL6B):c.229del (p.Asp77fs)	ACTL6B (D77fs)	Deletion (frameshift variant +1 more)	Seizure	GUncertain significance
Select item 3049544	NM_016188.5(ACTL6B):c.207C>G (p.Thr69=)	ACTL6B	Single nucleotide variant (synonymous variant +1 more)	ACTL6B-related condition	GLikely benign

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