ACTR8[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 2479671	NM_018725.4(IL17RB):c.860C>T (p.Pro287Leu)	ACTR8, IL17RB (P287L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109162	NM_018725.4(IL17RB):c.965C>T (p.Ser322Phe)	ACTR8, IL17RB (S322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369261	NM_018725.4(IL17RB):c.1126A>G (p.Met376Val)	ACTR8, IL17RB (M376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409511	NM_018725.4(IL17RB):c.1127T>C (p.Met376Thr)	ACTR8, IL17RB (M376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609667	NM_018725.4(IL17RB):c.1159A>G (p.Lys387Glu)	ACTR8, IL17RB (K387E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609668	NM_018725.4(IL17RB):c.1160A>C (p.Lys387Thr)	ACTR8, IL17RB (K387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469155	NM_018725.4(IL17RB):c.1198G>A (p.Val400Ile)	ACTR8, IL17RB (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213961	NM_018725.4(IL17RB):c.1213G>A (p.Asp405Asn)	IL17RB, ACTR8 (D405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365456	NM_018725.4(IL17RB):c.1226G>A (p.Gly409Asp)	ACTR8, IL17RB (G409D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109155	NM_018725.4(IL17RB):c.1344T>G (p.Phe448Leu)	ACTR8, IL17RB (F448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458549	NM_018725.4(IL17RB):c.1366G>A (p.Asp456Asn)	ACTR8, IL17RB (D456N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299977	NM_018725.4(IL17RB):c.1414G>A (p.Ala472Thr)	ACTR8, IL17RB (A472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475554	NM_022899.5(ACTR8):c.1867G>A (p.Val623Met)	ACTR8 (V512M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225154	NM_022899.5(ACTR8):c.1829G>A (p.Arg610His)	ACTR8 (R610H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289480	NM_022899.5(ACTR8):c.1780T>G (p.Cys594Gly)	ACTR8 (C483G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282113	NM_022899.5(ACTR8):c.1669A>C (p.Asn557His)	ACTR8 (N446H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228811	NM_022899.5(ACTR8):c.1613T>G (p.Val538Gly)	ACTR8 (V538G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142653	NM_022899.5(ACTR8):c.1483A>G (p.Met495Val)	ACTR8 (M384V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142648	NM_022899.5(ACTR8):c.1433G>C (p.Gly478Ala)	ACTR8 (G478A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332933	NM_022899.5(ACTR8):c.1429C>G (p.Gln477Glu)	ACTR8 (Q477E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475169	NM_022899.5(ACTR8):c.1379C>T (p.Ser460Phe)	ACTR8 (S349F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527201	NM_022899.5(ACTR8):c.1253A>T (p.Asp418Val)	ACTR8 (D307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142634	NM_022899.5(ACTR8):c.1165C>T (p.Pro389Ser)	ACTR8 (P278S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405352	NM_022899.5(ACTR8):c.1162G>T (p.Ala388Ser)	ACTR8 (A277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142629	NM_022899.5(ACTR8):c.1088A>G (p.His363Arg)	ACTR8 (H363R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527926	NM_022899.5(ACTR8):c.1040A>C (p.Lys347Thr)	ACTR8 (K347T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482147	NM_022899.5(ACTR8):c.1003A>G (p.Thr335Ala)	ACTR8 (T335A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264771	NM_022899.5(ACTR8):c.901C>T (p.Arg301Trp)	ACTR8 (R190W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264799	NM_022899.5(ACTR8):c.892G>A (p.Val298Met)	ACTR8 (V187M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311138	NM_022899.5(ACTR8):c.850G>A (p.Val284Ile)	ACTR8 (V173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264789	NM_022899.5(ACTR8):c.823G>A (p.Gly275Ser)	ACTR8 (G275S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142722	NM_022899.5(ACTR8):c.808G>A (p.Ala270Thr)	ACTR8 (A270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303507	NM_022899.5(ACTR8):c.715A>T (p.Ile239Phe)	ACTR8 (I128F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492022	NM_022899.5(ACTR8):c.713A>G (p.Asp238Gly)	ACTR8 (D127G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284512	NM_022899.5(ACTR8):c.521T>G (p.Val174Gly)	ACTR8 (V63G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592955	NM_022899.5(ACTR8):c.469A>G (p.Thr157Ala)	ACTR8 (T46A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604397	NM_022899.5(ACTR8):c.455C>T (p.Ser152Leu)	ACTR8 (S152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142701	NM_022899.5(ACTR8):c.446A>G (p.Asp149Gly)	ACTR8 (D38G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333792	NM_022899.5(ACTR8):c.431G>A (p.Arg144Gln)	ACTR8 (R144Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543537	NM_022899.5(ACTR8):c.416A>C (p.Tyr139Ser)	ACTR8 (Y139S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142694	NM_022899.5(ACTR8):c.413C>G (p.Ser138Cys)	ACTR8 (S27C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468057	NM_022899.5(ACTR8):c.410G>A (p.Arg137His)	ACTR8 (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718609	NM_022899.5(ACTR8):c.406-7T>G	ACTR8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2298765	NM_022899.5(ACTR8):c.397C>G (p.Pro133Ala)	ACTR8 (P133A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264808	NM_022899.5(ACTR8):c.383G>A (p.Arg128His)	ACTR8 (R128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247986	NM_022899.5(ACTR8):c.370A>G (p.Asn124Asp)	ACTR8 (N124D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399799	NM_022899.5(ACTR8):c.286G>A (p.Gly96Arg)	ACTR8 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351068	NM_022899.5(ACTR8):c.230G>A (p.Arg77Gln)	ACTR8 (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142672	NM_022899.5(ACTR8):c.202C>G (p.Pro68Ala)	ACTR8 (P68A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062734	GRCh37/hg19 3p21.1(chr3:53532755-54395791)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062724	GRCh37/hg19 3p21.1-14.3(chr3:53659716-54500525)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 686776	GRCh37/hg19 3p21.1(chr3:53413246-53955646)x3	ACTR8, CACNA1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 562769	GRCh37/hg19 3p21.1(chr3:53892719-54182466)x3	SELENOK, IL17RB +2 more	Copy number gain	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 60