EXOSC5[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3091205	NM_020158.4(EXOSC5):c.703A>G (p.Ser235Gly)	EXOSC5 (S235G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300245	NM_020158.4(EXOSC5):c.526-72_689del	EXOSC5	Deletion (splice acceptor variant +1 more)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic
Select item 3091204	NM_020158.4(EXOSC5):c.665G>A (p.Arg222His)	EXOSC5 (R222H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498781	NM_020158.4(EXOSC5):c.664C>T (p.Arg222Cys)	EXOSC5 (R222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533539	NM_020158.4(EXOSC5):c.663C>G (p.Phe221Leu)	EXOSC5 (F221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368523	NM_020158.4(EXOSC5):c.650C>T (p.Ser217Leu)	EXOSC5 (S217L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356497	NM_020158.4(EXOSC5):c.646G>A (p.Ala216Thr)	EXOSC5 (A216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300246	NM_020158.4(EXOSC5):c.617T>A (p.Leu206His)	EXOSC5	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic
Select item 3276842	NM_020158.4(EXOSC5):c.568C>T (p.Arg190Trp)	EXOSC5 (R190W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026110	NM_020158.4(EXOSC5):c.555G>C (p.Leu185=)	EXOSC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879440	NM_020158.4(EXOSC5):c.533G>A (p.Arg178Gln)	EXOSC5 (R178Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252118	NM_020158.4(EXOSC5):c.521A>G (p.Glu174Gly)	EXOSC5 (E174G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2461873	NM_020158.4(EXOSC5):c.496G>A (p.Val166Met)	EXOSC5 (V166M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237802	NM_020158.4(EXOSC5):c.484G>T (p.Asp162Tyr)	EXOSC5 (D162Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239140	NM_020158.4(EXOSC5):c.473C>T (p.Ala158Val)	EXOSC5 (A158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507585	NM_020158.4(EXOSC5):c.463G>T (p.Val155Phe)	EXOSC5 (V155F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276841	NM_020158.4(EXOSC5):c.445C>T (p.Arg149Trp)	EXOSC5 (R149W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307391	NM_020158.4(EXOSC5):c.443T>C (p.Met148Thr)	EXOSC5 (M148T)	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects +1 more	GUncertain significance
Select item 2222811	NM_020158.4(EXOSC5):c.409G>A (p.Ala137Thr)	EXOSC5 (A137T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801077	NM_020158.4(EXOSC5):c.379G>C (p.Gly127Arg)	EXOSC5 (G127R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530250	NM_020158.4(EXOSC5):c.353T>C (p.Val118Ala)	EXOSC5 (V118A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300244	NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	EXOSC5	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic/Likely pathogenic
Select item 1800881	NM_020158.4(EXOSC5):c.338G>A (p.Arg113His)	EXOSC5 (R113H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2393919	NM_020158.4(EXOSC5):c.311C>T (p.Ala104Val)	EXOSC5 (A104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281385	NM_020158.4(EXOSC5):c.307G>A (p.Glu103Lys)	EXOSC5 (E103K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300248	NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)	EXOSC5	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic/Likely pathogenic
Select item 3257661	NM_020158.4(EXOSC5):c.252T>A (p.Ile84=)	EXOSC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091202	NM_020158.4(EXOSC5):c.229G>A (p.Glu77Lys)	EXOSC5 (E77K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649925	NM_020158.4(EXOSC5):c.225A>G (p.Thr75=)	EXOSC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362030	NM_020158.4(EXOSC5):c.187G>A (p.Glu63Lys)	EXOSC5 (E63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091199	NM_020158.4(EXOSC5):c.167C>T (p.Ala56Val)	EXOSC5 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493651	NM_020158.4(EXOSC5):c.119G>C (p.Arg40Pro)	EXOSC5 (R40P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300247	NM_020158.4(EXOSC5):c.87del (p.His30fs)	EXOSC5 (H30fs)	Deletion (frameshift variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic
Select item 1695838	NM_020158.4(EXOSC5):c.50C>T (p.Thr17Ile)	EXOSC5 (T17I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1701717	NM_020158.4(EXOSC5):c.24C>G (p.Asp8Glu)	EXOSC5 (D8E)	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GUncertain significance
Select item 3091200	NM_020158.4(EXOSC5):c.17A>G (p.His6Arg)	EXOSC5 (H6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1281920	NM_020158.4(EXOSC5):c.14C>T (p.Thr5Met)	EXOSC5 (T5M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2611862	NM_020158.4(EXOSC5):c.11A>G (p.Glu4Gly)	EXOSC5 (E4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 816083	GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3	B3GNT8, BCKDHA +10 more	Copy number gain	not provided	GUncertain significance
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395643	GRCh37/hg19 19q13.2(chr19:41882243-41928551)x1	BCKDHA, EXOSC5 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3359747	NM_020158.4(EXOSC5):c.525+1G>A	EXOSC5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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Items: 48