29293[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2458927	NM_001199417.2(ARHGAP23):c.43C>T (p.Pro15Ser)	ARHGAP23 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208690	NM_001199417.2(ARHGAP23):c.56C>T (p.Pro19Leu)	ARHGAP23 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128660	NM_001199417.2(ARHGAP23):c.95C>G (p.Pro32Arg)	ARHGAP23 (P32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412311	NM_001199417.2(ARHGAP23):c.128C>T (p.Thr43Met)	ARHGAP23 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396742	NM_001199417.2(ARHGAP23):c.130C>A (p.Leu44Met)	ARHGAP23 (L44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407973	NM_001199417.2(ARHGAP23):c.152A>G (p.Gln51Arg)	ARHGAP23 (Q51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350014	NM_001199417.2(ARHGAP23):c.157G>A (p.Gly53Ser)	ARHGAP23 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383713	NM_001199417.2(ARHGAP23):c.244C>T (p.Arg82Cys)	ARHGAP23 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489106	NM_001199417.2(ARHGAP23):c.329A>G (p.His110Arg)	ARHGAP23 (H110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527866	NM_001199417.2(ARHGAP23):c.451A>G (p.Ile151Val)	ARHGAP23 (I151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556776	NM_001199417.2(ARHGAP23):c.457C>T (p.Pro153Ser)	ARHGAP23 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295679	NM_001199417.2(ARHGAP23):c.581C>T (p.Thr194Ile)	ARHGAP23 (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324595	NM_001199417.2(ARHGAP23):c.634A>G (p.Thr212Ala)	ARHGAP23 (T212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309634	NM_001199417.2(ARHGAP23):c.638C>T (p.Ser213Leu)	ARHGAP23 (S213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128657	NM_001199417.2(ARHGAP23):c.661A>G (p.Ser221Gly)	ARHGAP23 (S221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518748	NM_001199417.2(ARHGAP23):c.662G>A (p.Ser221Asn)	ARHGAP23 (S221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595051	NM_001199417.2(ARHGAP23):c.691C>T (p.Arg231Cys)	ARHGAP23 (R231C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311154	NM_001199417.2(ARHGAP23):c.709C>T (p.Arg237Cys)	ARHGAP23 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276549	NM_001199417.2(ARHGAP23):c.742A>G (p.Ser248Gly)	ARHGAP23 (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251424	NM_001199417.2(ARHGAP23):c.751C>T (p.Arg251Cys)	ARHGAP23 (R251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296722	NM_001199417.2(ARHGAP23):c.785C>T (p.Ser262Leu)	ARHGAP23 (S262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516575	NM_001199417.2(ARHGAP23):c.793C>T (p.Arg265Trp)	ARHGAP23 (R265W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276231	NM_001199417.2(ARHGAP23):c.800C>T (p.Pro267Leu)	ARHGAP23 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400550	NM_001199417.2(ARHGAP23):c.826C>T (p.Arg276Trp)	ARHGAP23 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247265	NM_001199417.2(ARHGAP23):c.827G>A (p.Arg276Gln)	ARHGAP23 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311223	NM_001199417.2(ARHGAP23):c.886G>A (p.Val296Ile)	ARHGAP23 (V296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128658	NM_001199417.2(ARHGAP23):c.895C>T (p.Arg299Trp)	ARHGAP23 (R299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311176	NM_001199417.2(ARHGAP23):c.924G>T (p.Met308Ile)	ARHGAP23 (M308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352012	NM_001199417.2(ARHGAP23):c.931C>T (p.Arg311Trp)	ARHGAP23 (R311W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311247	NM_001199417.2(ARHGAP23):c.954C>G (p.Asp318Glu)	ARHGAP23 (D318E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244845	NM_001199417.2(ARHGAP23):c.955C>T (p.Arg319Trp)	ARHGAP23 (R319W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209773	NM_001199417.2(ARHGAP23):c.980G>A (p.Arg327His)	ARHGAP23 (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248045	NM_001199417.2(ARHGAP23):c.1028A>G (p.Gln343Arg)	ARHGAP23 (Q343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128630	NM_001199417.2(ARHGAP23):c.1040A>G (p.His347Arg)	ARHGAP23 (H347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237846	NM_001199417.2(ARHGAP23):c.1043G>T (p.Arg348Leu)	ARHGAP23 (R348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309711	NM_001199417.2(ARHGAP23):c.1052C>T (p.Ser351Leu)	ARHGAP23 (S351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128631	NM_001199417.2(ARHGAP23):c.1057G>A (p.Asp353Asn)	ARHGAP23 (D353N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128632	NM_001199417.2(ARHGAP23):c.1070G>A (p.Arg357Gln)	ARHGAP23 (R357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350710	NM_001199417.2(ARHGAP23):c.1097G>T (p.Gly366Val)	ARHGAP23 (G366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219759	NM_001199417.2(ARHGAP23):c.1105G>A (p.Ala369Thr)	ARHGAP23 (A369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516582	NM_001199417.2(ARHGAP23):c.1120C>T (p.Arg374Cys)	ARHGAP23 (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550211	NM_001199417.2(ARHGAP23):c.1162C>T (p.Arg388Cys)	ARHGAP23 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311183	NM_001199417.2(ARHGAP23):c.1214C>T (p.Pro405Leu)	ARHGAP23 (P405L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128633	NM_001199417.2(ARHGAP23):c.1249A>G (p.Ile417Val)	ARHGAP23 (I417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406520	NM_001199417.2(ARHGAP23):c.1259G>A (p.Arg420Gln)	ARHGAP23 (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311213	NM_001199417.2(ARHGAP23):c.1280A>G (p.Gln427Arg)	ARHGAP23 (Q427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351102	NM_001199417.2(ARHGAP23):c.1378C>T (p.Pro460Ser)	ARHGAP23 (P460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128634	NM_001199417.2(ARHGAP23):c.1412C>T (p.Pro471Leu)	ARHGAP23 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351775	NM_001199417.2(ARHGAP23):c.1426C>T (p.Arg476Trp)	ARHGAP23 (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565796	NM_001199417.2(ARHGAP23):c.1427G>A (p.Arg476Gln)	ARHGAP23 (R476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324397	NM_001199417.2(ARHGAP23):c.1459G>A (p.Asp487Asn)	ARHGAP23 (D487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319561	NM_001199417.2(ARHGAP23):c.1483C>G (p.Pro495Ala)	ARHGAP23 (P495A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128635	NM_001199417.2(ARHGAP23):c.1487C>T (p.Pro496Leu)	ARHGAP23 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244429	NM_001199417.2(ARHGAP23):c.1496G>A (p.Arg499His)	ARHGAP23 (R499H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128636	NM_001199417.2(ARHGAP23):c.1501G>T (p.Val501Phe)	ARHGAP23 (V501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311160	NM_001199417.2(ARHGAP23):c.1516G>A (p.Ala506Thr)	ARHGAP23 (A506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607880	NM_001199417.2(ARHGAP23):c.1523A>G (p.Gln508Arg)	ARHGAP23 (Q508R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292697	NM_001199417.2(ARHGAP23):c.1523A>C (p.Gln508Pro)	ARHGAP23 (Q508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647699	NM_001199417.2(ARHGAP23):c.1583G>A (p.Arg528His)	ARHGAP23 (R528H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602541	NM_001199417.2(ARHGAP23):c.1610C>T (p.Ala537Val)	ARHGAP23 (A537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311191	NM_001199417.2(ARHGAP23):c.1757C>T (p.Ser586Phe)	ARHGAP23 (S586F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401565	NM_001199417.2(ARHGAP23):c.1760C>T (p.Pro587Leu)	ARHGAP23 (P587L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295177	NM_001199417.2(ARHGAP23):c.1784G>A (p.Arg595His)	ARHGAP23 (R595H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289895	NM_001199417.2(ARHGAP23):c.1823G>A (p.Arg608His)	ARHGAP23 (R608H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349249	NM_001199417.2(ARHGAP23):c.1825C>T (p.Arg609Cys)	ARHGAP23 (R609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311203	NM_001199417.2(ARHGAP23):c.1843G>A (p.Ala615Thr)	ARHGAP23 (A615T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128638	NM_001199417.2(ARHGAP23):c.1894C>T (p.Arg632Cys)	ARHGAP23 (R632C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311249	NM_001199417.2(ARHGAP23):c.1915C>T (p.Arg639Trp)	ARHGAP23 (R639W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554704	NM_001199417.2(ARHGAP23):c.1930C>T (p.Arg644Cys)	ARHGAP23 (R644C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223044	NM_001199417.2(ARHGAP23):c.1931G>A (p.Arg644His)	ARHGAP23 (R644H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550025	NM_001199417.2(ARHGAP23):c.1987T>G (p.Trp663Gly)	ARHGAP23 (W663G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517560	NM_001199417.2(ARHGAP23):c.2026C>T (p.His676Tyr)	ARHGAP23 (H676Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603665	NM_001199417.2(ARHGAP23):c.2150G>A (p.Arg717Gln)	ARHGAP23 (R717Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273309	NM_001199417.2(ARHGAP23):c.2162C>T (p.Ala721Val)	ARHGAP23 (A721V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459112	NM_001199417.2(ARHGAP23):c.2167C>T (p.Arg723Trp)	ARHGAP23 (R723W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623864	NM_001199417.2(ARHGAP23):c.2170G>C (p.Ala724Pro)	ARHGAP23 (A724P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128639	NM_001199417.2(ARHGAP23):c.2192A>G (p.Lys731Arg)	ARHGAP23 (K731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521807	NM_001199417.2(ARHGAP23):c.2197C>T (p.Arg733Trp)	ARHGAP23 (R733W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128640	NM_001199417.2(ARHGAP23):c.2209G>A (p.Gly737Arg)	ARHGAP23 (G737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468577	NM_001199417.2(ARHGAP23):c.2261C>T (p.Ala754Val)	ARHGAP23 (A754V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526750	NM_001199417.2(ARHGAP23):c.2275G>A (p.Gly759Ser)	ARHGAP23 (G759S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522318	NM_001199417.2(ARHGAP23):c.2305G>A (p.Glu769Lys)	ARHGAP23 (E769K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311144	NM_001199417.2(ARHGAP23):c.2356T>C (p.Tyr786His)	ARHGAP23 (Y786H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647700	NM_001199417.2(ARHGAP23):c.2406G>C (p.Ala802=)	ARHGAP23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128641	NM_001199417.2(ARHGAP23):c.2454C>G (p.Asn818Lys)	ARHGAP23 (N818K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488179	NM_001199417.2(ARHGAP23):c.2477T>C (p.Leu826Pro)	ARHGAP23 (L826P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128642	NM_001199417.2(ARHGAP23):c.2528C>T (p.Ser843Phe)	ARHGAP23 (S843F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311244	NM_001199417.2(ARHGAP23):c.2540C>G (p.Ser847Cys)	ARHGAP23 (S847C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564059	NM_001199417.2(ARHGAP23):c.2543G>A (p.Arg848His)	ARHGAP23 (R848H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321909	NM_001199417.2(ARHGAP23):c.2555G>A (p.Gly852Asp)	ARHGAP23 (G852D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128643	NM_001199417.2(ARHGAP23):c.2585C>T (p.Ala862Val)	ARHGAP23 (A862V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308527	NM_001199417.2(ARHGAP23):c.2602A>C (p.Thr868Pro)	ARHGAP23 (T868P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289481	NM_001199417.2(ARHGAP23):c.2607G>C (p.Gln869His)	ARHGAP23 (Q869H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343575	NM_001199417.2(ARHGAP23):c.2621G>A (p.Gly874Glu)	ARHGAP23 (G874E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278070	NM_001199417.2(ARHGAP23):c.2628G>C (p.Lys876Asn)	ARHGAP23 (K876N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128644	NM_001199417.2(ARHGAP23):c.2674A>G (p.Ile892Val)	ARHGAP23 (I892V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406124	NM_001199417.2(ARHGAP23):c.2684A>G (p.Asn895Ser)	ARHGAP23 (N895S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128645	NM_001199417.2(ARHGAP23):c.2705C>T (p.Ala902Val)	ARHGAP23 (A902V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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