NAV2-AS2[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 3177029	NM_145117.5(NAV2):c.2939G>A (p.Arg980Lys)	NAV2, NAV2-AS2 (R66K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177034	NM_145117.5(NAV2):c.2998A>G (p.Ile1000Val)	NAV2, NAV2-AS2 (I1000V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177037	NM_145117.5(NAV2):c.3026G>T (p.Arg1009Met)	NAV2, NAV2-AS2 (R945M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177040	NM_145117.5(NAV2):c.3029G>A (p.Arg1010Gln)	NAV2, NAV2-AS2 (R1010Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3060247	NM_145117.5(NAV2):c.3054G>T (p.Glu1018Asp)	NAV2, NAV2-AS2 (E1018D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NAV2-related disorder	GBenign
Select item 2633383	NM_145117.5(NAV2):c.3115C>T (p.Arg1039Ter)	NAV2, NAV2-AS2 (R1039* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NAV2-related disorder	GUncertain significance
Select item 2558079	NM_145117.5(NAV2):c.3139A>G (p.Ile1047Val)	NAV2, NAV2-AS2 (I1070V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2601698	NM_145117.5(NAV2):c.3154A>G (p.Thr1052Ala)	NAV2, NAV2-AS2 (T1052A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2641681	NM_145117.5(NAV2):c.3156G>A (p.Thr1052=)	NAV2, NAV2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3177050	NM_145117.5(NAV2):c.3178G>A (p.Ala1060Thr)	NAV2, NAV2-AS2 (A1083T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2334787	NM_145117.5(NAV2):c.3194G>T (p.Gly1065Val)	NAV2, NAV2-AS2 (G1001V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294026	NM_145117.5(NAV2):c.3214G>A (p.Ala1072Thr)	NAV2, NAV2-AS2 (A158T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225458	NM_145117.5(NAV2):c.3266G>A (p.Arg1089His)	NAV2, NAV2-AS2 (R1112H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618982	NM_145117.5(NAV2):c.3272C>T (p.Pro1091Leu)	NAV2, NAV2-AS2 (P1114L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547258	NM_145117.5(NAV2):c.3278A>G (p.Asp1093Gly)	NAV2, NAV2-AS2 (D1116G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038580	NM_145117.5(NAV2):c.3384C>T (p.Ser1128=)	NAV2, NAV2-AS2	Single nucleotide variant (synonymous variant)	NAV2-related disorder	GLikely benign
Select item 3042132	NM_145117.5(NAV2):c.3391G>A (p.Gly1131Ser)	NAV2, NAV2-AS2 (G1067S +3 more)	Single nucleotide variant (missense variant)	NAV2-related disorder	GBenign
Select item 2547955	NM_145117.5(NAV2):c.3415G>A (p.Gly1139Arg)	NAV2, NAV2-AS2 (G1075R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544213	NM_145117.5(NAV2):c.3431G>C (p.Ser1144Thr)	NAV2, NAV2-AS2 (S1144T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177076	NM_145117.5(NAV2):c.3475G>A (p.Val1159Ile)	NAV2, NAV2-AS2 (V1095I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298518	NM_145117.5(NAV2):c.3482G>C (p.Arg1161Pro)	NAV2, NAV2-AS2 (R247P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555272	NM_145117.5(NAV2):c.3482G>A (p.Arg1161Gln)	NAV2, NAV2-AS2 (R1161Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372693	NM_145117.5(NAV2):c.3505A>G (p.Met1169Val)	NAV2, NAV2-AS2 (M255V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781220	NM_145117.5(NAV2):c.3514G>A (p.Ala1172Thr)	NAV2, NAV2-AS2 (A1195T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177085	NM_145117.5(NAV2):c.3554G>A (p.Arg1185Gln)	NAV2, NAV2-AS2 (R1121Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491847	NM_145117.5(NAV2):c.3586C>A (p.Pro1196Thr)	NAV2, NAV2-AS2 (P1219T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298525	NM_145117.5(NAV2):c.3622A>G (p.Arg1208Gly)	NAV2, NAV2-AS2 (R1231G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275662	NM_145117.5(NAV2):c.3706A>G (p.Thr1236Ala)	NAV2, NAV2-AS2 (T1236A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550036	NM_145117.5(NAV2):c.3712C>G (p.Leu1238Val)	NAV2, NAV2-AS2 (L1174V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251077	NM_145117.5(NAV2):c.3750C>T (p.Asp1250=)	NAV2-AS2, NAV2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3298520	NM_145117.5(NAV2):c.3760G>T (p.Gly1254Cys)	NAV2, NAV2-AS2 (G1190C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368555	NM_145117.5(NAV2):c.3787G>A (p.Ala1263Thr)	NAV2, NAV2-AS2 (A1199T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177102	NM_145117.5(NAV2):c.3800C>T (p.Ser1267Leu)	NAV2, NAV2-AS2 (S1290L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177106	NM_145117.5(NAV2):c.3815C>T (p.Pro1272Leu)	NAV2, NAV2-AS2 (P1272L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512276	NM_145117.5(NAV2):c.3835A>G (p.Ser1279Gly)	NAV2, NAV2-AS2 (S1279G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557692	NM_145117.5(NAV2):c.3850A>C (p.Ser1284Arg)	NAV2, NAV2-AS2 (S1284R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268125	NM_145117.5(NAV2):c.3911G>T (p.Gly1304Val)	LOC126861158, NAV2 +1 more (G390V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177116	NM_145117.5(NAV2):c.3922A>G (p.Thr1308Ala)	LOC126861158, NAV2 +1 more (T394A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781221	NM_145117.5(NAV2):c.3978C>T (p.Ser1326=)	LOC126861158, NAV2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219229	NM_145117.5(NAV2):c.4022C>T (p.Pro1341Leu)	LOC126861158, NAV2 +1 more (P1277L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512058	NM_145117.5(NAV2):c.4024T>A (p.Ser1342Thr)	LOC126861158, NAV2 +1 more (S1342T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051424	NM_145117.5(NAV2):c.4070G>A (p.Ser1357Asn)	LOC126861158, NAV2 +1 more (S1293N +3 more)	Single nucleotide variant (missense variant)	NAV2-related disorder	GLikely benign
Select item 3298512	NM_145117.5(NAV2):c.4097C>T (p.Pro1366Leu)	LOC126861158, NAV2 +1 more (P1366L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265354	NM_145117.5(NAV2):c.4124A>G (p.His1375Arg)	LOC126861158, NAV2 +1 more (H461R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366685	NM_145117.5(NAV2):c.4162G>A (p.Ala1388Thr)	LOC126861158, NAV2 +1 more (A1411T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3298513	NM_145117.5(NAV2):c.4184G>A (p.Ser1395Asn)	LOC126861158, NAV2 +1 more (S1395N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3349847	NM_145117.5(NAV2):c.4225A>C (p.Thr1409Pro)	LOC126861158, NAV2 +1 more (T1345P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NAV2-related disorder	GUncertain significance
Select item 3177128	NM_145117.5(NAV2):c.4246A>G (p.Ile1416Val)	LOC126861158, NAV2 +1 more (I502V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2485776	NM_145117.5(NAV2):c.4280A>G (p.Asn1427Ser)	LOC126861158, NAV2 +1 more (N1450S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312071	NM_145117.5(NAV2):c.4294C>T (p.Leu1432Phe)	LOC126861158, NAV2 +1 more (L1368F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3037721	NM_145117.5(NAV2):c.4297A>G (p.Ile1433Val)	LOC126861158, NAV2 +1 more (I1369V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NAV2-related disorder	GBenign
Select item 3298519	NM_145117.5(NAV2):c.4352A>G (p.Lys1451Arg)	LOC126861158, NAV2 +1 more (K1387R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3042577	NM_145117.5(NAV2):c.4356C>T (p.Thr1452=)	LOC126861158, NAV2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	NAV2-related disorder	GLikely benign
Select item 2617291	NM_145117.5(NAV2):c.4364C>T (p.Ser1455Leu)	LOC126861158, NAV2 +1 more (S1391L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 55