RASAL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 2518148	NM_170692.4(RASAL2):c.13C>T (p.Pro5Ser)	LOC129931979, RASAL2 (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721721	NM_170692.4(RASAL2):c.83C>A (p.Pro28Gln)	RASAL2 (P28Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639590	NM_170692.4(RASAL2):c.90C>T (p.Pro30=)	RASAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617730	NM_170692.4(RASAL2):c.97G>T (p.Asp33Tyr)	RASAL2 (D33Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151734	NM_170692.4(RASAL2):c.165G>T (p.Glu55Asp)	RASAL2 (E55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151736	NM_170692.4(RASAL2):c.185G>C (p.Ser62Thr)	RASAL2 (S62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302172	NM_170692.4(RASAL2):c.212G>A (p.Gly71Glu)	RASAL2 (G71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306306	NM_170692.4(RASAL2):c.226C>T (p.Arg76Cys)	RASAL2 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312871	NM_170692.4(RASAL2):c.227G>T (p.Arg76Leu)	RASAL2 (R76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411797	NM_170692.4(RASAL2):c.350A>T (p.Gln117Leu)	RASAL2 (Q117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151745	NM_170692.4(RASAL2):c.380G>A (p.Arg127Gln)	RASAL2 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151746	NM_170692.4(RASAL2):c.427G>A (p.Glu143Lys)	RASAL2 (E143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388525	NM_170692.4(RASAL2):c.442G>A (p.Gly148Ser)	RASAL2 (G148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543685	NM_170692.4(RASAL2):c.445G>A (p.Ala149Thr)	RASAL2 (A149T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151747	NM_170692.4(RASAL2):c.473G>A (p.Arg158Lys)	RASAL2 (R10K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409848	NM_170692.4(RASAL2):c.488G>A (p.Arg163Gln)	RASAL2 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312866	NM_170692.4(RASAL2):c.531G>T (p.Met177Ile)	RASAL2 (M177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151748	NM_170692.4(RASAL2):c.565G>C (p.Gly189Arg)	RASAL2 (G189R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349971	NM_170692.4(RASAL2):c.599A>G (p.Lys200Arg)	RASAL2 (K200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312875	NM_170692.4(RASAL2):c.626A>G (p.Asp209Gly)	RASAL2 (D61G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151749	NM_170692.4(RASAL2):c.643C>T (p.Arg215Trp)	RASAL2 (R215W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312868	NM_170692.4(RASAL2):c.659G>A (p.Arg220His)	RASAL2 (R220H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556408	NM_170692.4(RASAL2):c.706C>T (p.Arg236Cys)	RASAL2 (R88C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252926	NM_170692.4(RASAL2):c.730C>G (p.Pro244Ala)	RASAL2 (P244A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719624	NM_170692.4(RASAL2):c.834C>T (p.Thr278=)	RASAL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2227756	NM_170692.4(RASAL2):c.904C>T (p.Arg302Cys)	RASAL2 (R302C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335248	NM_170692.4(RASAL2):c.922A>T (p.Asn308Tyr)	RASAL2 (N160Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387236	NM_170692.4(RASAL2):c.941G>A (p.Arg314Gln)	RASAL2 (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723880	NM_170692.4(RASAL2):c.1107T>C (p.Leu369=)	RASAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151731	NM_170692.4(RASAL2):c.1184T>C (p.Val395Ala)	RASAL2 (V247A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393063	NM_170692.4(RASAL2):c.1223G>A (p.Arg408His)	RASAL2 (R260H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327100	NM_170692.4(RASAL2):c.1262C>T (p.Thr421Ile)	RASAL2 (T273I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151732	NM_170692.4(RASAL2):c.1271A>G (p.Lys424Arg)	RASAL2 (K276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709358	NM_170692.4(RASAL2):c.1299G>A (p.Arg433=)	RASAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151733	NM_170692.4(RASAL2):c.1310G>A (p.Arg437His)	RASAL2 (R289H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280279	NM_170692.4(RASAL2):c.1355T>A (p.Phe452Tyr)	RASAL2 (F452Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312881	NM_170692.4(RASAL2):c.1601G>C (p.Gly534Ala)	RASAL2 (G386A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312877	NM_170692.4(RASAL2):c.1697G>T (p.Ser566Ile)	RASAL2 (S566I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151735	NM_170692.4(RASAL2):c.1706T>C (p.Ile569Thr)	RASAL2 (I421T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325074	NM_170692.4(RASAL2):c.1714C>G (p.Gln572Glu)	RASAL2 (Q424E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556101	NM_170692.4(RASAL2):c.1763A>G (p.Asn588Ser)	RASAL2 (N588S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312880	NM_170692.4(RASAL2):c.1771T>C (p.Cys591Arg)	RASAL2 (C443R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560009	NM_170692.4(RASAL2):c.1900A>G (p.Ile634Val)	RASAL2 (I634V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312876	NM_170692.4(RASAL2):c.1912A>G (p.Ser638Gly)	RASAL2 (S490G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351584	NM_170692.4(RASAL2):c.1924C>G (p.Leu642Val)	RASAL2 (L642V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151737	NM_170692.4(RASAL2):c.2060A>G (p.His687Arg)	RASAL2 (H539R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151738	NM_170692.4(RASAL2):c.2080C>T (p.Arg694Cys)	RASAL2 (R546C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312869	NM_170692.4(RASAL2):c.2096T>C (p.Ile699Thr)	RASAL2 (I551T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249552	NM_170692.4(RASAL2):c.2133T>G (p.Phe711Leu)	RASAL2 (F563L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481223	NM_170692.4(RASAL2):c.2140T>C (p.Tyr714His)	RASAL2 (Y714H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312874	NM_170692.4(RASAL2):c.2143A>G (p.Ile715Val)	RASAL2 (I715V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316462	NM_170692.4(RASAL2):c.2187G>C (p.Trp729Cys)	RASAL2 (W581C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529811	NM_170692.4(RASAL2):c.2218G>A (p.Val740Met)	RASAL2 (V599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568746	NM_170692.4(RASAL2):c.2230G>A (p.Gly744Arg)	RASAL2 (G603R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338181	NM_170692.4(RASAL2):c.2236C>A (p.Leu746Ile)	RASAL2 (L605I +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2475363	NM_170692.4(RASAL2):c.2243G>A (p.Arg748His)	RASAL2 (R607H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293712	NM_170692.4(RASAL2):c.2278C>T (p.Pro760Ser)	RASAL2 (P619S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151739	NM_170692.4(RASAL2):c.2282C>T (p.Thr761Met)	RASAL2 (T761M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227572	NM_170692.4(RASAL2):c.2342G>A (p.Gly781Glu)	RASAL2 (G781E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605485	NM_170692.4(RASAL2):c.2372T>C (p.Phe791Ser)	RASAL2 (F650S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610595	NM_170692.4(RASAL2):c.2524C>A (p.Leu842Ile)	RASAL2 (L701I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151740	NM_170692.4(RASAL2):c.2537G>A (p.Arg846Gln)	RASAL2 (R705Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723881	NM_170692.4(RASAL2):c.2541C>T (p.Ser847=)	RASAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225295	NM_170692.4(RASAL2):c.2542G>A (p.Val848Ile)	RASAL2 (V707I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223595	NM_170692.4(RASAL2):c.2654C>T (p.Ala885Val)	RASAL2 (A885V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207589	NM_170692.4(RASAL2):c.2689C>T (p.Pro897Ser)	RASAL2 (P756S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228729	NM_170692.4(RASAL2):c.2699C>T (p.Ala900Val)	RASAL2 (A759V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371371	NM_170692.4(RASAL2):c.2729C>T (p.Ala910Val)	RASAL2 (A769V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381989	NM_170692.4(RASAL2):c.2855G>C (p.Ser952Thr)	RASAL2 (S811T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526252	NM_170692.4(RASAL2):c.2942A>G (p.Gln981Arg)	RASAL2 (Q981R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594537	NM_170692.4(RASAL2):c.2945G>A (p.Ser982Asn)	RASAL2 (S841N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482217	NM_170692.4(RASAL2):c.2949G>C (p.Glu983Asp)	RASAL2 (E842D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363331	NM_170692.4(RASAL2):c.2969C>T (p.Thr990Met)	RASAL2 (T849M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212876	NM_170692.4(RASAL2):c.3007C>A (p.Gln1003Lys)	RASAL2 (Q862K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211303	NM_170692.4(RASAL2):c.3074C>T (p.Ala1025Val)	RASAL2 (A1025V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331233	NM_170692.4(RASAL2):c.3076C>T (p.Pro1026Ser)	RASAL2 (P885S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408310	NM_170692.4(RASAL2):c.3082T>G (p.Ser1028Ala)	RASAL2 (S1028A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362255	NM_170692.4(RASAL2):c.3088C>T (p.Pro1030Ser)	RASAL2 (P1030S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610831	NM_170692.4(RASAL2):c.3091C>G (p.His1031Asp)	RASAL2 (H890D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323219	NM_170692.4(RASAL2):c.3106C>G (p.Arg1036Gly)	RASAL2 (R1036G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312879	NM_170692.4(RASAL2):c.3123G>A (p.Met1041Ile)	RASAL2 (M900I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769545	NM_170692.4(RASAL2):c.3132G>C (p.Val1044=)	RASAL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2207384	NM_170692.4(RASAL2):c.3157G>C (p.Val1053Leu)	RASAL2 (V1053L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312870	NM_170692.4(RASAL2):c.3178C>T (p.Arg1060Trp)	RASAL2 (R1060W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312867	NM_170692.4(RASAL2):c.3340G>A (p.Val1114Met)	RASAL2 (V1114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312878	NM_170692.4(RASAL2):c.3359A>C (p.Asn1120Thr)	RASAL2 (N1120T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151742	NM_170692.4(RASAL2):c.3437G>A (p.Arg1146Gln)	RASAL2 (R1005Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542178	NM_170692.4(RASAL2):c.3440G>A (p.Arg1147Gln)	RASAL2 (R1147Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252654	NM_170692.4(RASAL2):c.3458G>A (p.Arg1153His)	RASAL2 (R1153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524389	NM_170692.4(RASAL2):c.3542G>A (p.Arg1181Gln)	RASAL2 (R1040Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470832	NM_170692.4(RASAL2):c.3571A>C (p.Met1191Leu)	RASAL2 (M1050L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354184	NM_170692.4(RASAL2):c.3610G>A (p.Glu1204Lys)	RASAL2 (E1063K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151743	NM_170692.4(RASAL2):c.3766C>T (p.Arg1256Cys)	RASAL2 (R1115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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