ClinVar for Gene (Select 165186) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328004	NM_199280.4(TOGARAM2):c.737T>C (p.Val246Ala)	TOGARAM2 (V246A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328003	NM_199280.4(TOGARAM2):c.1502G>T (p.Ser501Ile)	TOGARAM2 (S501I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328002	NM_199280.4(TOGARAM2):c.103C>A (p.Pro35Thr)	TOGARAM2 (P35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328001	NM_199280.4(TOGARAM2):c.1036G>A (p.Gly346Ser)	TOGARAM2 (G346S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328000	NM_199280.4(TOGARAM2):c.349G>A (p.Val117Met)	TOGARAM2 (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327998	NM_199280.4(TOGARAM2):c.2957T>C (p.Leu986Pro)	TOGARAM2 (L986P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327997	NM_199280.4(TOGARAM2):c.46G>A (p.Val16Met)	TOGARAM2 (V16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327996	NM_199280.4(TOGARAM2):c.1858C>T (p.Arg620Trp)	TOGARAM2 (R565W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327995	NM_199280.4(TOGARAM2):c.626C>T (p.Pro209Leu)	TOGARAM2 (P209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327994	NM_199280.4(TOGARAM2):c.2084T>G (p.Leu695Arg)	TOGARAM2 (L640R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327993	NM_199280.4(TOGARAM2):c.2564A>G (p.Asn855Ser)	TOGARAM2 (N664S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327992	NM_199280.4(TOGARAM2):c.74G>A (p.Arg25Gln)	TOGARAM2 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247359	NC_000002.11:g.(?_29119585)_(29420552_?)dup	ALK, CLIP4 +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3181091	NM_199280.4(TOGARAM2):c.988G>A (p.Ala330Thr)	TOGARAM2 (A330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181089	NM_199280.4(TOGARAM2):c.974T>C (p.Phe325Ser)	TOGARAM2 (F325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181088	NM_199280.4(TOGARAM2):c.962C>T (p.Thr321Met)	TOGARAM2 (T321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181087	NM_199280.4(TOGARAM2):c.959C>T (p.Pro320Leu)	TOGARAM2 (P320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181086	NM_199280.4(TOGARAM2):c.934G>A (p.Ala312Thr)	TOGARAM2 (A312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181085	NM_199280.4(TOGARAM2):c.931C>G (p.Pro311Ala)	TOGARAM2 (P311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181084	NM_199280.4(TOGARAM2):c.931C>A (p.Pro311Thr)	TOGARAM2 (P311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181083	NM_199280.4(TOGARAM2):c.930G>T (p.Lys310Asn)	TOGARAM2 (K310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181082	NM_199280.4(TOGARAM2):c.861G>T (p.Lys287Asn)	TOGARAM2 (K287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181081	NM_199280.4(TOGARAM2):c.841G>A (p.Gly281Arg)	TOGARAM2 (G281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181080	NM_199280.4(TOGARAM2):c.755G>A (p.Arg252His)	TOGARAM2 (R252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181079	NM_199280.4(TOGARAM2):c.73C>T (p.Arg25Trp)	TOGARAM2 (R25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181078	NM_199280.4(TOGARAM2):c.734C>T (p.Thr245Met)	TOGARAM2 (T245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181077	NM_199280.4(TOGARAM2):c.700G>A (p.Ala234Thr)	TOGARAM2 (A234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181076	NM_199280.4(TOGARAM2):c.665A>G (p.His222Arg)	TOGARAM2 (H222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181075	NM_199280.4(TOGARAM2):c.641C>T (p.Ala214Val)	TOGARAM2 (A214V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181074	NM_199280.4(TOGARAM2):c.615C>G (p.His205Gln)	TOGARAM2 (H205Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181073	NM_199280.4(TOGARAM2):c.469C>T (p.His157Tyr)	TOGARAM2 (H157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181072	NM_199280.4(TOGARAM2):c.392G>A (p.Arg131Lys)	TOGARAM2 (R131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181071	NM_199280.4(TOGARAM2):c.349G>C (p.Val117Leu)	TOGARAM2 (V117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181070	NM_199280.4(TOGARAM2):c.323C>T (p.Pro108Leu)	TOGARAM2 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181069	NM_199280.4(TOGARAM2):c.3035G>A (p.Ser1012Asn)	TOGARAM2 (S1012N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181068	NM_199280.4(TOGARAM2):c.2972C>T (p.Ser991Phe)	TOGARAM2 (S936F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181067	NM_199280.4(TOGARAM2):c.2917G>A (p.Ala973Thr)	TOGARAM2 (A782T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181066	NM_199280.4(TOGARAM2):c.2849G>T (p.Arg950Leu)	TOGARAM2 (R950L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181065	NM_199280.4(TOGARAM2):c.2833C>A (p.Pro945Thr)	TOGARAM2 (P754T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181064	NM_199280.4(TOGARAM2):c.2767C>T (p.Arg923Trp)	TOGARAM2 (R868W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181062	NM_199280.4(TOGARAM2):c.2764G>C (p.Glu922Gln)	TOGARAM2 (E731Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181061	NM_199280.4(TOGARAM2):c.2713C>T (p.Arg905Cys)	TOGARAM2 (R714C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181060	NM_199280.4(TOGARAM2):c.2696T>G (p.Val899Gly)	TOGARAM2 (V844G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181059	NM_199280.4(TOGARAM2):c.2690G>A (p.Arg897His)	TOGARAM2 (R706H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181058	NM_199280.4(TOGARAM2):c.2674C>T (p.Arg892Cys)	TOGARAM2 (R701C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181057	NM_199280.4(TOGARAM2):c.2606C>T (p.Ala869Val)	TOGARAM2 (A678V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181056	NM_199280.4(TOGARAM2):c.2542A>G (p.Ile848Val)	TOGARAM2 (I657V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181055	NM_199280.4(TOGARAM2):c.2477C>T (p.Ala826Val)	TOGARAM2 (A771V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181054	NM_199280.4(TOGARAM2):c.2401A>G (p.Thr801Ala)	TOGARAM2 (T746A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181053	NM_199280.4(TOGARAM2):c.2398G>C (p.Val800Leu)	TOGARAM2 (V745L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181052	NM_199280.4(TOGARAM2):c.2330A>G (p.Lys777Arg)	TOGARAM2 (K586R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181051	NM_199280.4(TOGARAM2):c.2290G>A (p.Val764Met)	TOGARAM2 (V573M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181050	NM_199280.4(TOGARAM2):c.2261G>A (p.Arg754His)	TOGARAM2 (R563H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181049	NM_199280.4(TOGARAM2):c.2242C>T (p.Pro748Ser)	TOGARAM2 (P557S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181048	NM_199280.4(TOGARAM2):c.2171G>A (p.Arg724His)	TOGARAM2 (R533H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181047	NM_199280.4(TOGARAM2):c.2155C>T (p.Pro719Ser)	TOGARAM2 (P719S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181046	NM_199280.4(TOGARAM2):c.209G>A (p.Gly70Glu)	TOGARAM2 (G70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181045	NM_199280.4(TOGARAM2):c.2043G>C (p.Leu681Phe)	TOGARAM2 (L681F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181044	NM_199280.4(TOGARAM2):c.203G>T (p.Gly68Val)	TOGARAM2 (G68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181043	NM_199280.4(TOGARAM2):c.2023C>T (p.Arg675Trp)	TOGARAM2 (R675W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181042	NM_199280.4(TOGARAM2):c.2014T>C (p.Phe672Leu)	TOGARAM2 (F617L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181041	NM_199280.4(TOGARAM2):c.1933C>A (p.Leu645Ile)	TOGARAM2 (L645I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181038	NM_199280.4(TOGARAM2):c.1903G>A (p.Val635Met)	TOGARAM2 (V635M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181037	NM_199280.4(TOGARAM2):c.1891C>T (p.His631Tyr)	TOGARAM2 (H631Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181036	NM_199280.4(TOGARAM2):c.1873C>T (p.Arg625Trp)	TOGARAM2 (R434W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181035	NM_199280.4(TOGARAM2):c.184C>T (p.Pro62Ser)	TOGARAM2 (P62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181034	NM_199280.4(TOGARAM2):c.1834C>T (p.Leu612Phe)	TOGARAM2 (L421F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181033	NM_199280.4(TOGARAM2):c.1819C>T (p.Arg607Cys)	TOGARAM2 (R552C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181032	NM_199280.4(TOGARAM2):c.1790G>A (p.Arg597Lys)	TOGARAM2 (R597K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181031	NM_199280.4(TOGARAM2):c.1756G>A (p.Glu586Lys)	TOGARAM2 (E531K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181030	NM_199280.4(TOGARAM2):c.1708G>T (p.Ala570Ser)	TOGARAM2 (A379S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181029	NM_199280.4(TOGARAM2):c.1699G>A (p.Asp567Asn)	TOGARAM2 (D512N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181028	NM_199280.4(TOGARAM2):c.1457C>T (p.Ser486Leu)	TOGARAM2 (S431L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181027	NM_199280.4(TOGARAM2):c.1373C>T (p.Pro458Leu)	TOGARAM2 (P403L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181026	NM_199280.4(TOGARAM2):c.1348C>T (p.Arg450Cys)	TOGARAM2 (R450C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181025	NM_199280.4(TOGARAM2):c.1340G>A (p.Arg447His)	TOGARAM2 (R447H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181024	NM_199280.4(TOGARAM2):c.1322T>C (p.Ile441Thr)	TOGARAM2 (I441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181023	NM_199280.4(TOGARAM2):c.1315A>T (p.Ile439Phe)	TOGARAM2 (I439F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181022	NM_199280.4(TOGARAM2):c.1300G>A (p.Ala434Thr)	TOGARAM2 (A434T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181021	NM_199280.4(TOGARAM2):c.1296C>G (p.Ser432Arg)	TOGARAM2 (S432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181020	NM_199280.4(TOGARAM2):c.127C>T (p.Pro43Ser)	TOGARAM2 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181019	NM_199280.4(TOGARAM2):c.1259G>A (p.Arg420Lys)	TOGARAM2 (R420K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181018	NM_199280.4(TOGARAM2):c.1110G>C (p.Glu370Asp)	TOGARAM2 (E370D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181017	NM_199280.4(TOGARAM2):c.1072C>T (p.Arg358Trp)	TOGARAM2 (R358W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181016	NM_199280.4(TOGARAM2):c.1054A>G (p.Thr352Ala)	TOGARAM2 (T352A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181015	NM_199280.4(TOGARAM2):c.1042A>G (p.Lys348Glu)	TOGARAM2 (K348E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062642	GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3	ALK, BABAM2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2650785	NM_199280.4(TOGARAM2):c.1890G>A (p.Glu630=)	TOGARAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650784	NM_199280.4(TOGARAM2):c.231_240del (p.Asp78fs)	TOGARAM2 (D78fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2622381	NM_199280.4(TOGARAM2):c.2830G>A (p.Gly944Arg)	TOGARAM2 (G944R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589097	NM_199280.4(TOGARAM2):c.2900G>A (p.Arg967His)	TOGARAM2 (R776H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588288	NM_199280.4(TOGARAM2):c.232G>C (p.Asp78His)	TOGARAM2 (D78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574567	NM_199280.4(TOGARAM2):c.1543C>T (p.Gln515Ter)	TOGARAM2 (Q460* +1 more)	Single nucleotide variant (nonsense +1 more)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 2569326	NM_199280.4(TOGARAM2):c.2260C>T (p.Arg754Cys)	TOGARAM2 (R699C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539745	NM_199280.4(TOGARAM2):c.2806G>A (p.Ala936Thr)	TOGARAM2 (A936T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533345	NM_199280.4(TOGARAM2):c.1426C>T (p.Leu476Phe)	TOGARAM2 (L476F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530743	NM_199280.4(TOGARAM2):c.2864G>A (p.Arg955Gln)	TOGARAM2 (R900Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528159	NM_199280.4(TOGARAM2):c.1297C>T (p.Arg433Trp)	TOGARAM2 (R433W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524747	NM_199280.4(TOGARAM2):c.178G>A (p.Glu60Lys)	TOGARAM2 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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