ClinVar for Gene (Select 57142) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315717	NM_020532.5(RTN4):c.2638G>T (p.Asp880Tyr)	RTN4 (D880Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315716	NM_020532.5(RTN4):c.26T>C (p.Leu9Pro)	RTN4 (L9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315715	NM_020532.5(RTN4):c.307G>C (p.Glu103Gln)	RTN4 (E103Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315714	NM_020532.5(RTN4):c.2031T>G (p.Ile677Met)	RTN4 (I471M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315713	NM_020532.5(RTN4):c.437C>G (p.Pro146Arg)	RTN4 (P146R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315712	NM_020532.5(RTN4):c.854T>C (p.Ile285Thr)	RTN4 (I285T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157049	NM_020532.5(RTN4):c.971T>A (p.Ile324Asn)	RTN4 (I118N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157048	NM_020532.5(RTN4):c.922C>G (p.Pro308Ala)	RTN4 (P102A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157047	NM_020532.5(RTN4):c.838G>A (p.Ala280Thr)	RTN4 (A280T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157046	NM_020532.5(RTN4):c.656C>T (p.Ala219Val)	RTN4 (A13V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157045	NM_020532.5(RTN4):c.494C>T (p.Ala165Val)	RTN4 (A165V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157044	NM_020532.5(RTN4):c.484C>A (p.Pro162Thr)	RTN4 (P162T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157043	NM_020532.5(RTN4):c.376G>A (p.Ala126Thr)	RTN4 (A126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157042	NM_020532.5(RTN4):c.3529A>G (p.Met1177Val)	RTN4 (M1177V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157041	NM_020532.5(RTN4):c.3509A>G (p.Asn1170Ser)	RTN4 (N1170S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157040	NM_020532.5(RTN4):c.3461T>C (p.Ile1154Thr)	RTN4 (I354T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157039	NM_020532.5(RTN4):c.3175G>T (p.Gly1059Cys)	RTN4 (G1059C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157038	NM_020532.5(RTN4):c.2995G>C (p.Glu999Gln)	RTN4 (E999Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157037	NM_020532.5(RTN4):c.2711C>T (p.Pro904Leu)	RTN4 (P698L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157036	NM_020532.5(RTN4):c.2584T>A (p.Ser862Thr)	RTN4 (S862T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157035	NM_020532.5(RTN4):c.255C>A (p.Phe85Leu)	RTN4 (F85L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157034	NM_020532.5(RTN4):c.249T>G (p.Asn83Lys)	RTN4 (N83K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157033	NM_020532.5(RTN4):c.1826C>T (p.Pro609Leu)	RTN4 (P403L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157032	NM_020532.5(RTN4):c.181G>C (p.Ala61Pro)	RTN4 (A61P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157031	NM_020532.5(RTN4):c.1706C>G (p.Thr569Arg)	RTN4 (T569R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157030	NM_020532.5(RTN4):c.1481A>G (p.Glu494Gly)	RTN4 (E288G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157029	NM_020532.5(RTN4):c.1370G>A (p.Arg457His)	RTN4 (R251H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157028	NM_020532.5(RTN4):c.1215G>T (p.Met405Ile)	RTN4 (M199I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157027	NM_020532.5(RTN4):c.1106T>G (p.Phe369Cys)	RTN4 (F369C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650943	NM_020532.5(RTN4):c.228G>A (p.Ala76=)	RTN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650942	NM_020532.5(RTN4):c.381A>T (p.Ala127=)	RTN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650941	NM_020532.5(RTN4):c.1626C>T (p.Val542=)	RTN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621442	NM_020532.5(RTN4):c.2674C>A (p.Leu892Ile)	RTN4 (L686I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615913	NM_020532.5(RTN4):c.2933A>G (p.Glu978Gly)	RTN4 (E772G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614170	NM_020532.5(RTN4):c.856G>C (p.Asp286His)	RTN4 (D286H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612262	NM_020532.5(RTN4):c.527C>A (p.Pro176His)	RTN4 (P176H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600786	NM_020532.5(RTN4):c.55C>T (p.Pro19Ser)	RTN4 (P19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599865	NM_020532.5(RTN4):c.416C>T (p.Pro139Leu)	RTN4 (P139L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594645	NM_020532.5(RTN4):c.485C>G (p.Pro162Arg)	RTN4 (P162R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592734	NM_020532.5(RTN4):c.272G>A (p.Arg91Gln)	RTN4 (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589730	NM_020532.5(RTN4):c.1429A>G (p.Thr477Ala)	RTN4 (T271A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558327	NM_020532.5(RTN4):c.144C>A (p.Asp48Glu)	RTN4 (D48E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556467	NM_020532.5(RTN4):c.1193A>G (p.Asp398Gly)	RTN4 (D192G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556411	NM_020532.5(RTN4):c.1159T>A (p.Phe387Ile)	RTN4 (F181I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553864	NM_020532.5(RTN4):c.392C>T (p.Ser131Phe)	RTN4 (S131F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549538	NM_020532.5(RTN4):c.382G>T (p.Val128Phe)	RTN4 (V128F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541803	NM_020532.5(RTN4):c.1268A>T (p.Lys423Ile)	RTN4 (K423I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538495	NM_020532.5(RTN4):c.3565C>T (p.Arg1189Cys)	RTN4 (R1189C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532752	NM_020532.5(RTN4):c.255C>G (p.Phe85Leu)	RTN4 (F85L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526386	NM_020532.5(RTN4):c.3415A>C (p.Thr1139Pro)	RTN4 (T146P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525558	NM_020532.5(RTN4):c.3305C>T (p.Thr1102Met)	RTN4 (T1102M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525551	NM_020532.5(RTN4):c.3566G>A (p.Arg1189His)	RTN4 (R196H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522875	NM_020532.5(RTN4):c.3286C>T (p.Leu1096Phe)	RTN4 (L277F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522016	NM_020532.5(RTN4):c.3302G>A (p.Cys1101Tyr)	RTN4 (C1101Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521999	NM_020532.5(RTN4):c.1369C>T (p.Arg457Cys)	RTN4 (R251C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516963	NM_020532.5(RTN4):c.268C>T (p.Pro90Ser)	RTN4 (P90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516912	NM_020532.5(RTN4):c.1537A>G (p.Lys513Glu)	RTN4 (K307E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493882	NM_020532.5(RTN4):c.2059C>G (p.Leu687Val)	RTN4 (L481V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2492261	NM_020532.5(RTN4):c.3433C>T (p.Leu1145Phe)	RTN4 (L1145F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490813	NM_020532.5(RTN4):c.1883G>A (p.Gly628Asp)	RTN4 (G628D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476650	NM_020532.5(RTN4):c.2074G>C (p.Ala692Pro)	RTN4 (A486P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456630	NM_020532.5(RTN4):c.2834C>T (p.Thr945Ile)	RTN4 (T739I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, CCDC88A +8 more	Duplication	not provided	GUncertain significance
Select item 2411748	NM_020532.5(RTN4):c.542C>T (p.Ser181Phe)	RTN4 (S181F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405940	NM_020532.5(RTN4):c.608C>G (p.Ser203Cys)	RTN4 (S203C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2404413	NM_020532.5(RTN4):c.422C>G (p.Ala141Gly)	RTN4 (A141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394502	NM_020532.5(RTN4):c.333C>G (p.Ser111Arg)	RTN4 (S111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383285	NM_020532.5(RTN4):c.3530T>C (p.Met1177Thr)	RTN4 (M1177T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369639	NM_020532.5(RTN4):c.2726C>T (p.Ser909Leu)	RTN4 (S909L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362104	NM_020532.5(RTN4):c.2941C>T (p.Leu981Phe)	RTN4 (L981F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361723	NM_020532.5(RTN4):c.3389A>G (p.Tyr1130Cys)	RTN4 (Y137C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356865	NM_020532.5(RTN4):c.329C>G (p.Pro110Arg)	RTN4 (P110R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337826	NM_020532.5(RTN4):c.1885G>T (p.Ala629Ser)	RTN4 (A423S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330362	NM_020532.5(RTN4):c.2081A>G (p.Tyr694Cys)	RTN4 (Y488C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327745	NM_020532.5(RTN4):c.2425A>G (p.Asn809Asp)	RTN4 (N809D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313086	NM_020532.5(RTN4):c.396G>C (p.Lys132Asn)	RTN4 (K132N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291820	NM_020532.5(RTN4):c.1170T>G (p.Phe390Leu)	RTN4 (F390L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275926	NM_020532.5(RTN4):c.2437A>G (p.Thr813Ala)	RTN4 (T607A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273593	NM_020532.5(RTN4):c.214C>T (p.Pro72Ser)	RTN4 (P72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272080	NM_020532.5(RTN4):c.1517C>T (p.Thr506Ile)	RTN4 (T506I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270893	NM_020532.5(RTN4):c.235A>T (p.Met79Leu)	RTN4 (M79L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2270892	NM_020532.5(RTN4):c.1247T>G (p.Leu416Trp)	RTN4 (L416W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253549	NM_020532.5(RTN4):c.1382A>G (p.Tyr461Cys)	RTN4 (Y255C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242221	NM_020532.5(RTN4):c.2804C>T (p.Ser935Leu)	RTN4 (S935L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230680	NM_020532.5(RTN4):c.3470G>A (p.Arg1157Gln)	RTN4 (R357Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230369	NM_020532.5(RTN4):c.3247A>G (p.Ile1083Val)	RTN4 (I264V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229908	NM_020532.5(RTN4):c.419C>T (p.Pro140Leu)	RTN4 (P140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218189	NM_020532.5(RTN4):c.1076T>C (p.Val359Ala)	RTN4 (V153A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207517	NM_020532.5(RTN4):c.3229C>G (p.Leu1077Val)	RTN4 (L84V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807595	GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3	CCDC88A, CFAP36 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526729	GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)	C2orf73, CCDC88A +6 more	Copy number gain	not specified	GUncertain significance
Select item 1341038	GRCh37/hg19 2p16.2-16.1(chr2:54718060-55215908)x3	EML6, RTN4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1049386	NC_000002.12:g.55141241C>T	RTN4	Single nucleotide variant	not provided	GUncertain significance
Select item 791854	NM_020532.5(RTN4):c.2976A>G (p.Pro992=)	RTN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790503	NM_020532.5(RTN4):c.1349C>T (p.Thr450Met)	RTN4 (T244M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775718	NM_020532.5(RTN4):c.2695G>C (p.Glu899Gln)	RTN4 (E693Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775717	NM_020532.5(RTN4):c.2759C>G (p.Ser920Cys)	RTN4 (S920C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774828	NM_020532.5(RTN4):c.2440C>A (p.Leu814Met)	RTN4 (L608M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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