ClinVar for Gene (Select 10880) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263983	NM_006686.4(ACTL7B):c.1231A>G (p.Ile411Val)	ACTL7B (I411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263973	NM_006686.4(ACTL7B):c.727G>A (p.Ala243Thr)	ACTL7B (A243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263963	NM_006686.4(ACTL7B):c.656C>G (p.Thr219Ser)	ACTL7B (T219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263953	NM_006686.4(ACTL7B):c.435C>A (p.His145Gln)	ACTL7B (H145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263944	NM_006686.4(ACTL7B):c.554C>G (p.Ser185Cys)	ACTL7B (S185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263932	NM_006686.4(ACTL7B):c.1136C>T (p.Ser379Phe)	ACTL7B (S379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263922	NM_006686.4(ACTL7B):c.721G>A (p.Gly241Ser)	ACTL7B (G241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263911	NM_006686.4(ACTL7B):c.68G>C (p.Arg23Pro)	ACTL7B (R23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263900	NM_006686.4(ACTL7B):c.5C>T (p.Ala2Val)	ACTL7B (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263889	NM_006686.4(ACTL7B):c.734C>G (p.Thr245Arg)	ACTL7B (T245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141562	NM_006686.4(ACTL7B):c.856G>A (p.Gly286Ser)	ACTL7B (G286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141551	NM_006686.4(ACTL7B):c.79G>C (p.Asp27His)	ACTL7B (D27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141547	NM_006686.4(ACTL7B):c.658A>T (p.Ser220Cys)	ACTL7B (S220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141543	NM_006686.4(ACTL7B):c.656C>T (p.Thr219Ile)	ACTL7B (T219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141529	NM_006686.4(ACTL7B):c.493G>A (p.Glu165Lys)	ACTL7B (E165K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141524	NM_006686.4(ACTL7B):c.481G>A (p.Glu161Lys)	ACTL7B (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141523	NM_006686.4(ACTL7B):c.467C>T (p.Pro156Leu)	ACTL7B (P156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141519	NM_006686.4(ACTL7B):c.454C>T (p.Pro152Ser)	ACTL7B (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141499	NM_006686.4(ACTL7B):c.340C>T (p.Pro114Ser)	ACTL7B (P114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141493	NM_006686.4(ACTL7B):c.197C>T (p.Ala66Val)	ACTL7B (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141490	NM_006686.4(ACTL7B):c.154G>A (p.Val52Ile)	ACTL7B (V52I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141486	NM_006686.4(ACTL7B):c.1072G>A (p.Glu358Lys)	ACTL7B (E358K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +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 2673185	NM_006686.4(ACTL7B):c.1037C>G (p.Thr346Ser)	ACTL7B (T346S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2617861	NM_006686.4(ACTL7B):c.227C>T (p.Ser76Phe)	ACTL7B (S76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613718	NM_006686.4(ACTL7B):c.871A>G (p.Ile291Val)	ACTL7B (I291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608799	NM_006686.4(ACTL7B):c.490G>A (p.Ala164Thr)	ACTL7B (A164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2569281	NM_006686.4(ACTL7B):c.364G>A (p.Asp122Asn)	ACTL7B (D122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546912	NM_006686.4(ACTL7B):c.107C>G (p.Ala36Gly)	ACTL7B (A36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515706	NM_006686.4(ACTL7B):c.844G>A (p.Glu282Lys)	ACTL7B (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489079	NM_006686.4(ACTL7B):c.782A>T (p.Tyr261Phe)	ACTL7B (Y261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488620	NM_006686.4(ACTL7B):c.155T>C (p.Val52Ala)	ACTL7B (V52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408462	NM_006686.4(ACTL7B):c.435C>G (p.His145Gln)	ACTL7B (H145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400026	NM_006686.4(ACTL7B):c.532G>A (p.Val178Met)	ACTL7B (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393619	NM_006686.4(ACTL7B):c.131G>T (p.Arg44Met)	ACTL7B (R44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352863	NM_006686.4(ACTL7B):c.866T>C (p.Ile289Thr)	ACTL7B (I289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319442	NM_006686.4(ACTL7B):c.1060C>T (p.Arg354Cys)	ACTL7B (R354C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299837	NM_006686.4(ACTL7B):c.629C>T (p.Ser210Phe)	ACTL7B (S210F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293847	NM_006686.4(ACTL7B):c.632A>G (p.Glu211Gly)	ACTL7B (E211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250124	NM_006686.4(ACTL7B):c.424C>G (p.Pro142Ala)	ACTL7B (P142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242743	NM_006686.4(ACTL7B):c.118A>G (p.Lys40Glu)	ACTL7B (K40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240066	NM_006686.4(ACTL7B):c.821C>T (p.Pro274Leu)	ACTL7B (P274L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236610	NM_006686.4(ACTL7B):c.442C>A (p.Leu148Met)	ACTL7B (L148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213314	NM_006686.4(ACTL7B):c.421C>G (p.Leu141Val)	ACTL7B (L141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207735	NM_006686.4(ACTL7B):c.923C>T (p.Ala308Val)	ACTL7B (A308V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +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)	ANKRD18A, ANKRD18B +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 788593	NM_006686.4(ACTL7B):c.789C>A (p.Ala263=)	ACTL7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +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)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +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	ABCA1, ABCA2 +771 more	Copy number gain	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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 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 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	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

ClinVar

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Links from Gene

Items: 84