25540[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 2543817	NM_018125.4(ARHGEF10L):c.26A>G (p.Gln9Arg)	ARHGEF10L (Q9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312851	NM_018125.4(ARHGEF10L):c.161G>A (p.Ser54Asn)	ARHGEF10L (S54N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615784	NM_018125.4(ARHGEF10L):c.175A>G (p.Arg59Gly)	ARHGEF10L (R59G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384645	NM_018125.4(ARHGEF10L):c.186C>A (p.Asp62Glu)	ARHGEF10L (D62E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482363	NM_018125.4(ARHGEF10L):c.214C>T (p.Pro72Ser)	ARHGEF10L (P72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129033	NM_018125.4(ARHGEF10L):c.250G>A (p.Gly84Ser)	ARHGEF10L (G84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2638397	NM_018125.4(ARHGEF10L):c.290C>A (p.Ala97Glu)	ARHGEF10L (A97E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3129035	NM_018125.4(ARHGEF10L):c.313C>T (p.Arg105Trp)	ARHGEF10L (R105W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 733539	NM_018125.4(ARHGEF10L):c.314G>A (p.Arg105Gln)	ARHGEF10L (R105Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2537178	NM_018125.4(ARHGEF10L):c.343C>T (p.Arg115Cys)	ARHGEF10L (R115C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129040	NM_018125.4(ARHGEF10L):c.344G>A (p.Arg115His)	ARHGEF10L (R115H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312895	NM_018125.4(ARHGEF10L):c.354C>G (p.Asp118Glu)	ARHGEF10L (D118E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312861	NM_018125.4(ARHGEF10L):c.355C>T (p.Arg119Trp)	ARHGEF10L (R119W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383348	NM_018125.4(ARHGEF10L):c.469C>T (p.Arg157Trp)	ARHGEF10L (R157W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516237	NM_018125.4(ARHGEF10L):c.568G>A (p.Glu190Lys)	ARHGEF10L (E190K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591237	NM_018125.4(ARHGEF10L):c.580G>A (p.Ala194Thr)	ARHGEF10L (A194T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2307052	NM_018125.4(ARHGEF10L):c.680T>C (p.Val227Ala)	ARHGEF10L (V227A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312873	NM_018125.4(ARHGEF10L):c.683G>C (p.Gly228Ala)	ARHGEF10L (G228A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129043	NM_018125.4(ARHGEF10L):c.683G>A (p.Gly228Glu)	ARHGEF10L (G228E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341701	NM_018125.4(ARHGEF10L):c.730A>G (p.Thr244Ala)	ARHGEF10L (T205A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286167	NM_018125.4(ARHGEF10L):c.730A>T (p.Thr244Ser)	ARHGEF10L (T244S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487446	NM_018125.4(ARHGEF10L):c.871G>A (p.Val291Ile)	ARHGEF10L (V69I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312927	NM_018125.4(ARHGEF10L):c.972C>T (p.Ile324=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 782906	NM_018125.4(ARHGEF10L):c.1021-4G>T	ARHGEF10L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2327199	NM_018125.4(ARHGEF10L):c.1079A>T (p.Gln360Leu)	ARHGEF10L (Q321L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556002	NM_018125.4(ARHGEF10L):c.1093C>T (p.Arg365Cys)	ARHGEF10L (R143C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283194	NM_018125.4(ARHGEF10L):c.1199C>T (p.Ser400Leu)	ARHGEF10L (S400L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709328	NM_018125.4(ARHGEF10L):c.1200+10C>T	ARHGEF10L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2406694	NM_018125.4(ARHGEF10L):c.1224T>G (p.Asp408Glu)	ARHGEF10L (D369E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 775516	NM_018125.4(ARHGEF10L):c.1344T>C (p.Arg448=)	ARHGEF10L	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3129025	NM_018125.4(ARHGEF10L):c.1345G>A (p.Val449Ile)	ARHGEF10L (V449I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312937	NM_018125.4(ARHGEF10L):c.1348A>T (p.Thr450Ser)	ARHGEF10L (T228S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356389	NM_018125.4(ARHGEF10L):c.1411G>A (p.Asp471Asn)	ARHGEF10L (D249N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638398	NM_018125.4(ARHGEF10L):c.1455G>A (p.Ser485=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380057	NM_018125.4(ARHGEF10L):c.1558G>A (p.Val520Ile)	ARHGEF10L (V228I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299240	NM_018125.4(ARHGEF10L):c.1652G>C (p.Arg551Pro)	ARHGEF10L (R551P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775517	NM_018125.4(ARHGEF10L):c.1713T>C (p.Cys571=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3129026	NM_018125.4(ARHGEF10L):c.1746G>A (p.Arg582=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2239165	NM_018125.4(ARHGEF10L):c.1811C>T (p.Ala604Val)	ARHGEF10L (A565V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791108	NM_018125.4(ARHGEF10L):c.1812G>A (p.Ala604=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2253278	NM_018125.4(ARHGEF10L):c.1863C>A (p.Asp621Glu)	ARHGEF10L (D324E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297503	NM_018125.4(ARHGEF10L):c.1903G>A (p.Ala635Thr)	ARHGEF10L (A413T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129027	NM_018125.4(ARHGEF10L):c.1949C>G (p.Pro650Arg)	ARHGEF10L (P428R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721806	NM_018125.4(ARHGEF10L):c.1992C>T (p.Ala664=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3129028	NM_018125.4(ARHGEF10L):c.1993G>A (p.Val665Met)	ARHGEF10L (V621M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241478	NM_018125.4(ARHGEF10L):c.2101G>A (p.Val701Met)	ARHGEF10L (V404M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129029	NM_018125.4(ARHGEF10L):c.2123C>T (p.Ser708Leu)	ARHGEF10L (S411L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498248	NM_018125.4(ARHGEF10L):c.2137C>T (p.Arg713Cys)	ARHGEF10L (R416C +4 more)	Single nucleotide variant (missense variant +1 more)	Teratoma	GUncertain significance
Select item 2528331	NM_018125.4(ARHGEF10L):c.2176G>A (p.Gly726Ser)	ARHGEF10L (G429S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129030	NM_018125.4(ARHGEF10L):c.2247G>T (p.Arg749Ser)	ARHGEF10L (R452S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217989	NM_018125.4(ARHGEF10L):c.2303C>T (p.Pro768Leu)	ARHGEF10L (P471L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129031	NM_018125.4(ARHGEF10L):c.2342C>T (p.Pro781Leu)	ARHGEF10L (P737L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405918	NM_018125.4(ARHGEF10L):c.2353T>C (p.Cys785Arg)	ARHGEF10L (C488R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129032	NM_018125.4(ARHGEF10L):c.2372C>T (p.Ser791Phe)	ARHGEF10L (S747F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526284	NM_018125.4(ARHGEF10L):c.2480G>C (p.Trp827Ser)	ARHGEF10L (W788S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324449	NM_018125.4(ARHGEF10L):c.2612A>T (p.Glu871Val)	ARHGEF10L (E832V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477493	NM_018125.4(ARHGEF10L):c.2647G>T (p.Val883Phe)	ARHGEF10L (V586F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468061	NM_018125.4(ARHGEF10L):c.2660C>T (p.Ser887Leu)	ARHGEF10L (S665L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390619	NM_018125.4(ARHGEF10L):c.2666C>T (p.Thr889Met)	ARHGEF10L (T850M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129034	NM_018125.4(ARHGEF10L):c.2680A>G (p.Ile894Val)	ARHGEF10L (I855V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399375	NM_018125.4(ARHGEF10L):c.2749G>T (p.Val917Leu)	ARHGEF10L (V620L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312884	NM_018125.4(ARHGEF10L):c.2852G>A (p.Arg951Gln)	ARHGEF10L (R912Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588304	NM_018125.4(ARHGEF10L):c.2886C>G (p.Ser962Arg)	ARHGEF10L (S665R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225155	NM_018125.4(ARHGEF10L):c.2894T>C (p.Val965Ala)	ARHGEF10L (V921A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528535	NM_018125.4(ARHGEF10L):c.3092C>T (p.Ser1031Phe)	ARHGEF10L (S809F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365146	NM_018125.4(ARHGEF10L):c.3110G>A (p.Arg1037His)	ARHGEF10L (R1037H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129036	NM_018125.4(ARHGEF10L):c.3281G>A (p.Arg1094Gln)	ARHGEF10L (R1050Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312905	NM_018125.4(ARHGEF10L):c.3299A>G (p.Lys1100Arg)	ARHGEF10L (K803R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129037	NM_018125.4(ARHGEF10L):c.3316A>G (p.Met1106Val)	ARHGEF10L (M1067V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129038	NM_018125.4(ARHGEF10L):c.3349G>A (p.Ala1117Thr)	ARHGEF10L (A1117T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731669	NM_018125.4(ARHGEF10L):c.3368C>T (p.Thr1123Ile)	ARHGEF10L (T1079I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2597320	NM_018125.4(ARHGEF10L):c.3395G>A (p.Arg1132Gln)	ARHGEF10L (R1088Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312843	NM_018125.4(ARHGEF10L):c.3424C>T (p.Arg1142Trp)	ARHGEF10L (R1103W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370618	NM_018125.4(ARHGEF10L):c.3437A>G (p.Asp1146Gly)	ARHGEF10L (D1102G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374357	NM_018125.4(ARHGEF10L):c.3459C>A (p.His1153Gln)	ARHGEF10L (H1109Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205872	NM_018125.4(ARHGEF10L):c.3521A>G (p.Gln1174Arg)	ARHGEF10L (Q952R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248419	NM_018125.4(ARHGEF10L):c.3527G>A (p.Arg1176His)	ARHGEF10L (R1137H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638399	NM_018125.4(ARHGEF10L):c.3540C>T (p.Thr1180=)	ARHGEF10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2206366	NM_018125.4(ARHGEF10L):c.3541G>A (p.Ala1181Thr)	ARHGEF10L (A959T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129041	NM_018125.4(ARHGEF10L):c.3542C>A (p.Ala1181Glu)	ARHGEF10L (A1142E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314703	NM_018125.4(ARHGEF10L):c.3562C>A (p.Leu1188Ile)	ARHGEF10L (L1144I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129042	NM_018125.4(ARHGEF10L):c.3619G>A (p.Asp1207Asn)	ARHGEF10L (D1163N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 224809	NM_018125.4(ARHGEF10L):c.3646G>A (p.Asp1216Asn)	ARHGEF10L (D1216N +4 more)	Single nucleotide variant (missense variant +1 more)	Cerebral visual impairment and intellectual disability	GLikely pathogenic
Select item 721792	NM_018125.4(ARHGEF10L):c.3664C>T (p.Arg1222Cys)	ARHGEF10L (R1183C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3312916	NM_018125.4(ARHGEF10L):c.3665G>A (p.Arg1222His)	ARHGEF10L (R925H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377865	NM_018125.4(ARHGEF10L):c.3694C>T (p.Arg1232Cys)	ARHGEF10L (R1010C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253566	NM_018125.4(ARHGEF10L):c.3695G>A (p.Arg1232His)	ARHGEF10L (R1010H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551632	NM_018125.4(ARHGEF10L):c.3701A>G (p.Glu1234Gly)	ARHGEF10L (E1195G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565085	NM_018125.4(ARHGEF10L):c.3757G>A (p.Ala1253Thr)	ARHGEF10L (A1209T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598889	NM_018125.4(ARHGEF10L):c.3785C>T (p.Pro1262Leu)	ARHGEF10L (P1218L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363561	NM_018125.4(ARHGEF10L):c.3793G>A (p.Glu1265Lys)	ARHGEF10L (E968K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic

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