ACTL7A[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-kruszka syndrome	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 3141421	NM_006687.4(ACTL7A):c.41C>T (p.Thr14Ile)	ACTL7A (T14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141471	NM_006687.4(ACTL7A):c.80C>A (p.Ala27Asp)	ACTL7A (A27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299390	NM_006687.4(ACTL7A):c.103G>A (p.Asp35Asn)	ACTL7A (D35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381920	NM_006687.4(ACTL7A):c.124G>A (p.Val42Met)	ACTL7A (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578002	NM_006687.4(ACTL7A):c.146C>G (p.Ser49Ter)	ACTL7A	Single nucleotide variant (nonsense)	Spermatogenic failure 86	GPathogenic
Select item 1343822	NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs)	ACTL7A (E50fs)	Microsatellite (frameshift variant)	Male infertility with normal semen parameters	GPathogenic
Select item 3141406	NM_006687.4(ACTL7A):c.188G>T (p.Arg63Met)	ACTL7A (R63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300086	NM_006687.4(ACTL7A):c.241T>C (p.Cys81Arg)	ACTL7A (C81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547172	NM_006687.4(ACTL7A):c.257C>G (p.Ala86Gly)	ACTL7A (A86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237005	NM_006687.4(ACTL7A):c.296T>G (p.Val99Gly)	ACTL7A (V99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369566	NM_006687.4(ACTL7A):c.336T>G (p.Asn112Lys)	ACTL7A (N112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344252	NM_006687.4(ACTL7A):c.379G>A (p.Val127Ile)	ACTL7A (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141420	NM_006687.4(ACTL7A):c.383A>G (p.His128Arg)	ACTL7A (H128R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590130	NM_006687.4(ACTL7A):c.421G>A (p.Val141Met)	ACTL7A (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578000	NM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter)	ACTL7A	Single nucleotide variant (nonsense)	Spermatogenic failure 86	GPathogenic
Select item 3141430	NM_006687.4(ACTL7A):c.464G>A (p.Arg155Gln)	ACTL7A (R155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356043	NM_006687.4(ACTL7A):c.484C>T (p.Pro162Ser)	ACTL7A (P162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471016	NM_006687.4(ACTL7A):c.497C>A (p.Ala166Glu)	ACTL7A (A166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462041	NM_006687.4(ACTL7A):c.515C>T (p.Pro172Leu)	ACTL7A (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347476	NM_006687.4(ACTL7A):c.569C>A (p.Ala190Asp)	ACTL7A (A190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141443	NM_006687.4(ACTL7A):c.586A>G (p.Met196Val)	ACTL7A (M196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341347	NM_006687.4(ACTL7A):c.607C>T (p.Arg203Cys)	ACTL7A (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141450	NM_006687.4(ACTL7A):c.667G>A (p.Val223Met)	ACTL7A (V223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515335	NM_006687.4(ACTL7A):c.691G>A (p.Glu231Lys)	ACTL7A (E231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141455	NM_006687.4(ACTL7A):c.718G>A (p.Gly240Arg)	ACTL7A (G240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577999	NM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr)	ACTL7A	Single nucleotide variant (missense variant)	Spermatogenic failure 86	GPathogenic
Select item 2578003	NM_006687.4(ACTL7A):c.737G>C (p.Gly246Ala)	ACTL7A	Single nucleotide variant (missense variant)	Spermatogenic failure 86	GPathogenic
Select item 3141460	NM_006687.4(ACTL7A):c.769C>A (p.Leu257Met)	ACTL7A (L257M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141467	NM_006687.4(ACTL7A):c.787G>A (p.Glu263Lys)	ACTL7A (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141470	NM_006687.4(ACTL7A):c.808G>T (p.Gly270Cys)	ACTL7A (G270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282255	NM_006687.4(ACTL7A):c.866A>G (p.Glu289Gly)	ACTL7A (E289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325422	NM_006687.4(ACTL7A):c.883A>G (p.Ser295Gly)	ACTL7A (S295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363035	NM_006687.4(ACTL7A):c.891T>G (p.His297Gln)	ACTL7A (H297Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394660	NM_006687.4(ACTL7A):c.961A>T (p.Met321Leu)	ACTL7A (M321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578001	NM_006687.4(ACTL7A):c.1084G>A (p.Gly362Arg)	ACTL7A	Single nucleotide variant (missense variant)	Spermatogenic failure 86	GPathogenic
Select item 2337770	NM_006687.4(ACTL7A):c.1087G>A (p.Gly363Ser)	ACTL7A (G363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385645	NM_006687.4(ACTL7A):c.1147C>T (p.Pro383Ser)	ACTL7A (P383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402565	NM_006687.4(ACTL7A):c.1183A>G (p.Arg395Gly)	ACTL7A (R395G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309865	NM_006687.4(ACTL7A):c.1249G>A (p.Val417Ile)	ACTL7A (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685358	GRCh37/hg19 9q31.3(chr9:111524654-111644689)x1	ACTL7A, ACTL7B +1 more	Copy number loss	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527543	GRCh37/hg19 9q31.3(chr9:111560213-111984713)	ABITRAM, ACTL7A +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 979864	GRCh37/hg19 9q31.2-31.3(chr9:110273670-111717897)x3	ELP1, ABITRAM +3 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523243	GRCh37/hg19 9q31.3(chr9:111624558-111812725)	ABITRAM, ACTL7A +4 more	Copy number gain	Profound global developmental delay +4 more	GUncertain significance
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 394021	GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3	ELP1, EPB41L4B +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 79