ARL15[gene] - ClinVar

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Items: 34

	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	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
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 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 147265	GRCh38/hg38 5q11.2(chr5:53796866-53988736)x1	ARL15, LINC02105 +4 more	Copy number loss	See cases	GBenign
Select item 3129542	NM_019087.3(ARL15):c.499G>A (p.Gly167Arg)	ARL15 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465790	NM_019087.3(ARL15):c.484G>C (p.Glu162Gln)	ARL15 (E162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153338	GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3	ARL15, HSPB3 +7 more	Copy number gain	See cases	GLikely benign
Select item 3129541	NM_019087.3(ARL15):c.425A>G (p.Asn142Ser)	ARL15 (N142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129540	NM_019087.3(ARL15):c.347T>C (p.Leu116Ser)	ARL15 (L116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630875	NM_019087.3(ARL15):c.253+3A>T	ARL15	Single nucleotide variant (intron variant)	ARL15-related disorder	GUncertain significance
Select item 2541515	NM_019087.3(ARL15):c.124G>A (p.Gly42Ser)	ARL15 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129543	NM_019087.3(ARL15):c.95A>T (p.Glu32Val)	ARL15 (E32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556441	NM_019087.3(ARL15):c.89G>A (p.Arg30Gln)	ARL15 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060130	NM_019087.3(ARL15):c.15A>G (p.Arg5=)	ARL15	Single nucleotide variant (synonymous variant)	ARL15-related disorder	GBenign
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 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 979674	GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1	NDUFS4, MOCS2 +8 more	Copy number loss	not provided	GPathogenic
Select item 689313	GRCh37/hg19 5q11.2(chr5:53287547-53721555)x3	ARL15	Copy number gain	not provided	GUncertain significance
Select item 688600	GRCh37/hg19 5q11.2(chr5:53263426-53916242)x3	ARL15, HSPB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686287	GRCh37/hg19 5q11.2(chr5:53308304-53821701)x3	ARL15, HSPB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685493	GRCh37/hg19 5q11.2(chr5:53327509-53762704)x3	ARL15, HSPB3	Copy number gain	not provided	GUncertain significance
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563064	GRCh37/hg19 5q11.2(chr5:53300747-53662628)x3	ARL15	Copy number gain	not provided	GUncertain significance
Select item 446347	GRCh37/hg19 5q11.2(chr5:53326381-53739530)x3	ARL15	Copy number gain	See cases	GUncertain significance
Select item 443292	GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1	ARL15, FST +5 more	Copy number loss	See cases	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 442375	GRCh37/hg19 5q11.2(chr5:53141338-53730978)x3	ARL15	Copy number gain	See cases	GUncertain significance
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
Select item 394638	GRCh37/hg19 5q11.2(chr5:53378898-54011892)x3	ARL15, HSPB3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 268060	GRCh37/hg19 5q11.2(chr5:53316271-53815560)x3	HSPB3, SNX18 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 34