ACTBL2[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 153270	GRCh38/hg38 5q11.2(chr5:57383264-58030187)x3	ACTBL2, LINC02225 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2463923	NM_001017992.4(ACTBL2):c.1111G>A (p.Val371Ile)	ACTBL2, RMEL3 (V371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613940	NM_001017992.4(ACTBL2):c.1066A>T (p.Met356Leu)	ACTBL2, RMEL3 (M356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304752	NM_001017992.4(ACTBL2):c.1054A>G (p.Thr352Ala)	ACTBL2, RMEL3 (T352A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141197	NM_001017992.4(ACTBL2):c.1028G>C (p.Gly343Ala)	ACTBL2, RMEL3 (G343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205231	NM_001017992.4(ACTBL2):c.1028G>A (p.Gly343Glu)	ACTBL2, RMEL3 (G343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544368	NM_001017992.4(ACTBL2):c.1026T>G (p.Ile342Met)	ACTBL2, RMEL3 (I342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247319	NM_001017992.4(ACTBL2):c.887C>T (p.Ala296Val)	ACTBL2, RMEL3 (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478982	NM_001017992.4(ACTBL2):c.852G>C (p.Met284Ile)	ACTBL2, RMEL3 (M284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255992	NM_001017992.4(ACTBL2):c.851T>C (p.Met284Thr)	ACTBL2, RMEL3 (M284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213299	NM_001017992.4(ACTBL2):c.710C>T (p.Pro237Leu)	ACTBL2, RMEL3 (P237L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459014	NM_001017992.4(ACTBL2):c.632G>A (p.Arg211Gln)	ACTBL2, RMEL3 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273623	NM_001017992.4(ACTBL2):c.632G>C (p.Arg211Pro)	ACTBL2, RMEL3 (R211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614199	NM_001017992.4(ACTBL2):c.625A>G (p.Ile209Val)	ACTBL2, RMEL3 (I209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612521	NM_001017992.4(ACTBL2):c.620G>T (p.Arg207Leu)	ACTBL2, RMEL3 (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231626	NM_001017992.4(ACTBL2):c.533G>T (p.Arg178Leu)	ACTBL2, RMEL3 (R178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362080	NM_001017992.4(ACTBL2):c.512C>T (p.Ala171Val)	ACTBL2, RMEL3 (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540737	NM_001017992.4(ACTBL2):c.493C>T (p.Pro165Ser)	ACTBL2, RMEL3 (P165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353138	NM_001017992.4(ACTBL2):c.368T>C (p.Ile123Thr)	ACTBL2, RMEL3 (I123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141210	NM_001017992.4(ACTBL2):c.334A>G (p.Asn112Asp)	ACTBL2, RMEL3 (N112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528601	NM_001017992.4(ACTBL2):c.307C>T (p.Pro103Ser)	ACTBL2, RMEL3 (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141206	NM_001017992.4(ACTBL2):c.303G>T (p.Glu101Asp)	ACTBL2, RMEL3 (E101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269715	NM_001017992.4(ACTBL2):c.172G>C (p.Glu58Gln)	ACTBL2, RMEL3 (E58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141203	NM_001017992.4(ACTBL2):c.139G>A (p.Gly47Ser)	ACTBL2, RMEL3 (G47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317958	NM_001017992.4(ACTBL2):c.105G>T (p.Met35Ile)	ACTBL2, RMEL3 (M35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730552	NM_001017992.4(ACTBL2):c.54C>T (p.Cys18=)	ACTBL2, RMEL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2487589	NM_001017992.4(ACTBL2):c.32T>C (p.Val11Ala)	ACTBL2, RMEL3 (V11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141204	NM_001017992.4(ACTBL2):c.15G>T (p.Glu5Asp)	ACTBL2, RMEL3 (E5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685157	GRCh37/hg19 5q11.2(chr5:56762145-57239011)x1	ACTBL2	Copy number loss	not provided	GUncertain significance
Select item 1527163	GRCh37/hg19 5q11.2(chr5:56679091-57256033)	ACTBL2	Copy number gain	not specified	GUncertain significance
Select item 685431	GRCh37/hg19 5q11.2(chr5:56283070-58079028)x1	ACTBL2, GAPT +3 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563067	GRCh37/hg19 5q11.2(chr5:56762144-56884850)x1	ACTBL2	Copy number loss	not provided	GLikely benign
Select item 563066	GRCh37/hg19 5q11.2(chr5:56574178-58587671)x1	RAB3C, ACTBL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 42