ARL5A[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 2499636	GRCh38/hg38 2q23.3(chr2:151451642-151807929)	ARL5A, LOC108348024 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2471010	NM_012097.4(ARL5A):c.526C>T (p.Leu176Phe)	ARL5A (L176F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356437	NM_012097.4(ARL5A):c.524G>A (p.Arg175Gln)	ARL5A (R138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296161	NM_012097.4(ARL5A):c.453G>T (p.Gln151His)	ARL5A (Q114H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513854	NM_012097.4(ARL5A):c.232A>G (p.Asn78Asp)	ARL5A (N41D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601959	NM_012097.4(ARL5A):c.221G>A (p.Arg74His)	ARL5A (R37H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545873	NM_012097.4(ARL5A):c.217C>T (p.Leu73Phe)	ARL5A (L36F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402689	NM_012097.4(ARL5A):c.211G>C (p.Glu71Gln)	ARL5A (E34Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129560	NM_012097.4(ARL5A):c.172A>G (p.Asn58Asp)	ARL5A (N58D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315152	NM_012097.4(ARL5A):c.112A>G (p.Met38Val)	ARL5A (M38V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297652	NM_012097.4(ARL5A):c.29G>A (p.Arg10Lys)	ARL5A, LOC129934919 (R10K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062645	GRCh37/hg19 2q23.3(chr2:151626277-154149348)x1	ARL5A, ARL6IP6 +9 more	Copy number loss	not specified	GUncertain significance
Select item 2684786	GRCh37/hg19 2q23.3(chr2:152159193-152760566)x1	ARL5A, CACNB4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 2424064	NC_000002.11:g.(?_152466303)_(152955525_?)del	ARL5A, CACNB4 +1 more	Deletion	Nemaline myopathy 2	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526921	GRCh37/hg19 2q23.3(chr2:150606201-153038451)	ARL5A, CACNB4 +7 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 999127	NC_000002.11:g.(?_152466313)_(152698612_?)dup	ARL5A, CACNB4 +1 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 833295	NC_000002.12:g.(?_151485750)_(151957616_?)del	ARL5A, CACNB4 +1 more	Deletion	Nemaline myopathy 2	GPathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 32