ACTL6A[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 1695086	NM_004301.5(ACTL6A):c.67G>A (p.Val23Met)	ACTL6A (V23M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698171	NM_004301.5(ACTL6A):c.139A>G (p.Arg47Gly)	ACTL6A (R47G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2596067	NM_004301.5(ACTL6A):c.193G>A (p.Gly65Ser)	ACTL6A (G65S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467809	NM_004301.5(ACTL6A):c.275T>C (p.Met92Thr)	ACTL6A (M50T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329885	NM_004301.5(ACTL6A):c.314A>G (p.His105Arg)	ACTL6A (H105R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1177318	NM_004301.5(ACTL6A):c.377C>T (p.Pro126Leu)	ACTL6A (P126L +1 more)	Single nucleotide variant (missense variant)	ACTL6A-related BAFopathy	GUncertain significance
Select item 3263805	NM_004301.5(ACTL6A):c.385A>G (p.Thr129Ala)	ACTL6A (T129A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483667	NM_004301.5(ACTL6A):c.423T>G (p.Phe141Leu)	ACTL6A (F141L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027056	NM_004301.5(ACTL6A):c.456C>T (p.Cys152=)	ACTL6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3370084	NM_004301.5(ACTL6A):c.477-2A>G	ACTL6A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2654290	NM_004301.5(ACTL6A):c.561C>T (p.Val187=)	ACTL6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243307	NM_004301.5(ACTL6A):c.572-4A>G	ACTL6A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3141353	NM_004301.5(ACTL6A):c.604A>G (p.Ile202Val)	ACTL6A (I160V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703446	NM_004301.5(ACTL6A):c.644T>C (p.Ile215Thr)	ACTL6A (I173T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207126	NM_004301.5(ACTL6A):c.652G>A (p.Val218Ile)	ACTL6A (V218I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2654291	NM_004301.5(ACTL6A):c.655C>T (p.Pro219Ser)	ACTL6A (P177S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704685	NM_004301.5(ACTL6A):c.666G>A (p.Met222Ile)	ACTL6A (M180I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695087	NM_004301.5(ACTL6A):c.673T>A (p.Ser225Thr)	ACTL6A (S183T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 545508	NM_004301.5(ACTL6A):c.679G>C (p.Glu227Gln)	ACTL6A (E185Q +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 2329183	NM_004301.5(ACTL6A):c.751C>T (p.His251Tyr)	ACTL6A (H209Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500416	NM_004301.5(ACTL6A):c.758A>G (p.Tyr253Cys)	ACTL6A (Y211C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2281185	NM_004301.5(ACTL6A):c.799C>T (p.Leu267Phe)	ACTL6A (L267F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204079	NM_004301.5(ACTL6A):c.919G>A (p.Gly307Arg)	ACTL6A (G265R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373189	NM_004301.5(ACTL6A):c.976A>G (p.Ser326Gly)	ACTL6A (S326G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2654292	NM_004301.5(ACTL6A):c.993A>G (p.Thr331=)	ACTL6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369541	NM_004301.5(ACTL6A):c.997G>A (p.Val333Ile)	ACTL6A (V291I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263459	NM_004301.5(ACTL6A):c.1017C>T (p.Asp339=)	ACTL6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1335550	NM_004301.5(ACTL6A):c.1036G>A (p.Gly346Ser)	ACTL6A (G304S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	ACTL6A-related BAFopathy +15 more	GConflicting classifications of pathogenicity
Select item 2672968	NM_004301.5(ACTL6A):c.1138T>G (p.Leu380Val)	ACTL6A (L338V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1326587	NM_004301.5(ACTL6A):c.1144G>C (p.Ala382Pro)	ACTL6A (A340P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177319	NM_004301.5(ACTL6A):c.1165C>T (p.Arg389Trp)	ACTL6A (R347W +1 more)	Single nucleotide variant (missense variant)	ACTL6A-related BAFopathy +1 more	GUncertain significance
Select item 3263815	NM_004301.5(ACTL6A):c.1170G>T (p.Arg390Ser)	ACTL6A (R348S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281817	NM_004301.5(ACTL6A):c.1174A>G (p.Ser392Gly)	ACTL6A (S392G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545509	NM_004301.5(ACTL6A):c.1209+1G>C	ACTL6A	Single nucleotide variant (splice donor variant)	Global developmental delay +1 more	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	MRPL47, DNAJC19 +12 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 638139	GRCh37/hg19 3q26.32-26.33(chr3:178869440-179400345)x3	ZNF639, ACTL6A +7 more	Copy number gain	See cases	GUncertain significance
Select item 562845	GRCh37/hg19 3q26.32-26.33(chr3:178990782-179443371)x3	ZNF639, ACTL6A +5 more	Copy number gain	not provided	GUncertain significance
Select item 443796	GRCh37/hg19 3q26.32-26.33(chr3:178853769-179369934)x3	ACTL6A, GNB4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3361268	NM_004301.5(ACTL6A):c.898G>A (p.Glu300Lys)	ACTL6A (E258K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359520	NM_004301.5(ACTL6A):c.891T>G (p.Phe297Leu)	ACTL6A (F255L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 67