ClinVar for Gene (Select 285175) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353654	NM_001371986.1(UNC80):c.7397C>G (p.Ala2466Gly)	UNC80 (A2395G +2 more)	Single nucleotide variant (missense variant)	UNC80-related disorder	GUncertain significance
Select item 3347031	NM_001371986.1(UNC80):c.3840+1G>A	LOC121725110, UNC80	Single nucleotide variant (splice donor variant)	UNC80-related disorder	GLikely pathogenic
Select item 3345045	NM_001371986.1(UNC80):c.7050+1G>T	UNC80	Single nucleotide variant (splice donor variant)	UNC80-related disorder	GLikely pathogenic
Select item 3331096	NM_001371986.1(UNC80):c.6100C>T (p.Leu2034Phe)	UNC80 (L1963F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331095	NM_001371986.1(UNC80):c.4862C>T (p.Ser1621Phe)	UNC80 (S1555F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331094	NM_001371986.1(UNC80):c.356T>A (p.Met119Lys)	UNC80 (M119K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331093	NM_001371986.1(UNC80):c.5308G>A (p.Gly1770Arg)	LOC126806490, UNC80 (G1704R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331092	NM_001371986.1(UNC80):c.3506G>A (p.Ser1169Asn)	UNC80 (S1166N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331091	NM_001371986.1(UNC80):c.4819A>G (p.Lys1607Glu)	UNC80 (K1541E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331090	NM_001371986.1(UNC80):c.2311A>C (p.Asn771His)	UNC80 (N771H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331088	NM_001371986.1(UNC80):c.22G>A (p.Glu8Lys)	UNC80 (E8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331087	NM_001371986.1(UNC80):c.7979A>G (p.Asn2660Ser)	UNC80 (N2660S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331086	NM_001371986.1(UNC80):c.8401C>T (p.Pro2801Ser)	UNC80 (P2801S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247574	NC_000002.11:g.(?_210636797)_(211542709_?)dup	ACADL, CPS1 +5 more	Duplication	not provided	GUncertain significance
Select item 3247573	NC_000002.11:g.(?_210636797)_(210658603_?)del	UNC80	Deletion	not provided	GPathogenic
Select item 3242143	NM_001371986.1(UNC80):c.4646A>G (p.His1549Arg)	UNC80 (H1478R +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3242142	NM_001371986.1(UNC80):c.9922A>G (p.Thr3308Ala)	UNC80 (T3218A +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3234687	NM_001371986.1(UNC80):c.9843A>T (p.Leu3281=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186696	NM_001371986.1(UNC80):c.9700C>T (p.Pro3234Ser)	UNC80 (P3168S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186695	NM_001371986.1(UNC80):c.7942C>T (p.Leu2648Phe)	UNC80 (L2582F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186693	NM_001371986.1(UNC80):c.7495G>C (p.Gly2499Arg)	UNC80 (G2428R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186691	NM_001371986.1(UNC80):c.6641C>T (p.Pro2214Leu)	UNC80 (P2143L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186690	NM_001371986.1(UNC80):c.5953G>T (p.Asp1985Tyr)	UNC80 (D1919Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186689	NM_001371986.1(UNC80):c.5128G>A (p.Ala1710Thr)	LOC126806490, UNC80 (A1639T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186688	NM_001371986.1(UNC80):c.491G>A (p.Ser164Asn)	UNC80 (S164N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186687	NM_001371986.1(UNC80):c.4729A>G (p.Arg1577Gly)	UNC80 (R1511G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186686	NM_001371986.1(UNC80):c.4210T>A (p.Ser1404Thr)	UNC80 (S1404T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186683	NM_001371986.1(UNC80):c.2534C>A (p.Thr845Asn)	UNC80 (T840N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186682	NM_001371986.1(UNC80):c.2347G>C (p.Val783Leu)	UNC80 (V783L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186681	NM_001371986.1(UNC80):c.2139G>T (p.Glu713Asp)	UNC80 (E713D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186680	NM_001371986.1(UNC80):c.1906G>C (p.Glu636Gln)	UNC80 (E636Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068002	NM_001371986.1(UNC80):c.6178+1G>C	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3057505	NM_001371986.1(UNC80):c.3977-5C>A	UNC80	Single nucleotide variant (intron variant)	UNC80-related disorder	GLikely benign
Select item 3050856	NM_001371986.1(UNC80):c.601-8C>T	UNC80	Single nucleotide variant (intron variant)	UNC80-related disorder	GLikely benign
Select item 3049153	NM_001371986.1(UNC80):c.1021C>T (p.Pro341Ser)	UNC80 (P341S)	Single nucleotide variant (missense variant)	UNC80-related disorder	GLikely benign
Select item 3048298	NM_001371986.1(UNC80):c.1020G>T (p.Gln340His)	UNC80 (Q340H)	Single nucleotide variant (missense variant)	UNC80-related disorder	GLikely benign
Select item 3045227	NM_001371986.1(UNC80):c.4726C>T (p.Leu1576=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related disorder	GLikely benign
Select item 3040943	NM_001371986.1(UNC80):c.4926A>G (p.Leu1642=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related disorder	GLikely benign
Select item 3040685	NM_001371986.1(UNC80):c.2700C>T (p.Ile900=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related disorder	GLikely benign
Select item 3030794	NM_001371986.1(UNC80):c.8244A>G (p.Ala2748=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related disorder	GLikely benign
Select item 3022965	NM_001371986.1(UNC80):c.4251A>C (p.Ser1417=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018936	NM_001371986.1(UNC80):c.7593C>T (p.Asn2531=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018298	NM_001371986.1(UNC80):c.3153A>G (p.Ser1051=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015409	NM_001371986.1(UNC80):c.390G>A (p.Glu130=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015146	NM_001371986.1(UNC80):c.7545C>T (p.Asn2515=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013383	NM_001371986.1(UNC80):c.6987T>A (p.Ile2329=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012602	NM_001371986.1(UNC80):c.1552+2T>C	UNC80	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3012269	NM_001371986.1(UNC80):c.3993T>A (p.Ser1331=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012252	NM_001371986.1(UNC80):c.7674C>T (p.Pro2558=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011974	NM_001371986.1(UNC80):c.1164A>G (p.Ala388=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010956	NM_001371986.1(UNC80):c.6391C>A (p.Arg2131=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3010168	NM_001371986.1(UNC80):c.7728G>T (p.Arg2576=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009558	NM_001371986.1(UNC80):c.7332A>G (p.Leu2444=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008407	NM_001371986.1(UNC80):c.8694C>A (p.Ala2898=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007786	NM_001371986.1(UNC80):c.6465+8A>G	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007631	NM_001371986.1(UNC80):c.601-4dup	UNC80	Duplication (intron variant)	not provided	GBenign
Select item 3006752	NM_001371986.1(UNC80):c.3105C>T (p.Ser1035=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005064	NM_001371986.1(UNC80):c.8908del (p.Ile2970fs)	UNC80 (I2899fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3005002	NM_001371986.1(UNC80):c.4782+11G>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004809	NM_001371986.1(UNC80):c.9508+13G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004544	NM_001371986.1(UNC80):c.1427T>C (p.Phe476Ser)	UNC80 (F476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004017	NM_001371986.1(UNC80):c.6703C>T (p.Leu2235=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003429	NM_001371986.1(UNC80):c.8773-12C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000555	NM_001371986.1(UNC80):c.6465+13G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000508	NM_001371986.1(UNC80):c.5310G>A (p.Gly1770=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999240	NM_001371986.1(UNC80):c.6916-14G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998552	NM_001371986.1(UNC80):c.6274-12C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997511	NM_001371986.1(UNC80):c.3358-10C>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997391	NM_001371986.1(UNC80):c.8313G>A (p.Glu2771=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996343	NM_001371986.1(UNC80):c.1899G>A (p.Glu633=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995687	NM_001371986.1(UNC80):c.583C>T (p.Leu195=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995382	NM_001371986.1(UNC80):c.3537A>G (p.Arg1179=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994923	NM_001371986.1(UNC80):c.9521G>A (p.Arg3174Gln)	UNC80 (R3108Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993805	NM_001371986.1(UNC80):c.724+19C>G	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993616	NM_001371986.1(UNC80):c.6915+7A>G	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992296	NM_001371986.1(UNC80):c.1626C>T (p.Ser542=)	LOC122861286, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991458	NM_001371986.1(UNC80):c.6915+15C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991277	NM_001371986.1(UNC80):c.3120T>C (p.Ser1040=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990402	NM_001371986.1(UNC80):c.5029+13C>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990344	NM_001371986.1(UNC80):c.4488T>C (p.Ser1496=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989983	NM_001371986.1(UNC80):c.7041G>A (p.Leu2347=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989912	NM_001371986.1(UNC80):c.609C>T (p.Asp203=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987577	NM_001371986.1(UNC80):c.6126G>A (p.Thr2042=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987389	NM_001371986.1(UNC80):c.601-6C>G	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986355	NM_001371986.1(UNC80):c.92+10G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985585	NM_001371986.1(UNC80):c.2775+8G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984874	NM_001371986.1(UNC80):c.3628-11A>G	LOC121725110, UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2984448	NM_001371986.1(UNC80):c.5683C>T (p.His1895Tyr)	UNC80 (H1895Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2982117	NM_001371986.1(UNC80):c.8440C>G (p.Leu2814Val)	UNC80 (L2748V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981877	NM_001371986.1(UNC80):c.5742T>C (p.Cys1914=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981055	NM_001371986.1(UNC80):c.2547T>C (p.Tyr849=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980265	NM_001371986.1(UNC80):c.5148G>A (p.Thr1716=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979596	NM_001371986.1(UNC80):c.2626+16C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978154	NM_001371986.1(UNC80):c.8380+5_8380+8dup	UNC80	Duplication (intron variant)	not provided	GLikely benign
Select item 2976735	NM_001371986.1(UNC80):c.3849C>T (p.Gly1283=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975155	NM_001371986.1(UNC80):c.9495A>G (p.Lys3165=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975062	NM_001371986.1(UNC80):c.6364-16T>C	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973546	NM_001371986.1(UNC80):c.1920G>A (p.Gly640=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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