ClinVar for Gene (Select 1134) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362606	NM_000079.4(CHRNA1):c.440_444del (p.Ser146_Tyr147insTer)	CHRNA1	Deletion (nonsense)	Congenital myasthenic syndrome 1A	GLikely pathogenic
Select item 3352000	NM_000079.4(CHRNA1):c.-9C>T	CHRNA1	Single nucleotide variant (5 prime UTR variant)	CHRNA1-related disorder	GLikely benign
Select item 3340621	NM_000079.4(CHRNA1):c.190G>T (p.Asp64Tyr)	CHRNA1 (D64Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267149	NM_000079.4(CHRNA1):c.32G>T (p.Ser11Ile)	CHRNA1 (S11I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255616	NM_000079.4(CHRNA1):c.44-1G>T	CHRNA1	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 1A	GLikely pathogenic
Select item 3253002	NM_000079.4(CHRNA1):c.1313G>A (p.Cys438Tyr)	CHRNA1 (C438Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247275	NC_000002.11:g.(?_175612852)_(175629122_?)dup	CHRNA1	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3247274	NC_000002.11:g.(?_175612852)_(175619162_?)del	CHRNA1	Deletion	Lethal multiple pterygium syndrome	GPathogenic
Select item 3144598	NM_000079.4(CHRNA1):c.556G>A (p.Asp186Asn)	CHRNA1 (D211N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144597	NM_000079.4(CHRNA1):c.1304T>A (p.Met435Lys)	CHRNA1 (M435K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061278	NM_000079.4(CHRNA1):c.411G>C (p.Thr137=)	CHRNA1	Single nucleotide variant (synonymous variant)	CHRNA1-related disorder	GLikely benign
Select item 3033471	NM_000079.4(CHRNA1):c.234G>A (p.Gln78=)	CHRNA1	Single nucleotide variant (synonymous variant)	CHRNA1-related disorder	GUncertain significance
Select item 3030395	NM_000079.4(CHRNA1):c.456C>T (p.Val152=)	CHRNA1	Single nucleotide variant (synonymous variant)	CHRNA1-related disorder	GLikely benign
Select item 3029250	NM_000079.4(CHRNA1):c.1153C>A (p.Pro385Thr)	CHRNA1 (P385T +1 more)	Single nucleotide variant (missense variant)	CHRNA1-related disorder	GUncertain significance
Select item 3016296	NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 3015987	NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)	CHRNA1 (I221V +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3000320	NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2992568	NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)	CHRNA1 (T312R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2991689	NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn)	CHRNA1 (H428N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2979756	NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2977093	NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn)	CHRNA1 (Y92N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2968059	NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2961488	NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)	CHRNA1 (E411K +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2920290	NM_000079.4(CHRNA1):c.190-12T>A	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2919687	NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2910660	NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser)	CHRNA1 (C187S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2909364	NM_000079.4(CHRNA1):c.235-8G>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2909299	NM_000079.4(CHRNA1):c.344+15T>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2902673	NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile)	CHRNA1 (T164I +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2902198	NM_000079.4(CHRNA1):c.591G>A (p.Val197=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2899434	NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2896142	NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)	CHRNA1 (Y421C +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2886625	NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr)	CHRNA1 (D186Y +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2882793	NM_000079.4(CHRNA1):c.1003-8dup	CHRNA1	Duplication (intron variant)	Lethal multiple pterygium syndrome	GBenign
Select item 2882144	NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2875313	NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2870351	NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)	CHRNA1 (F276S +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2862523	NM_000079.4(CHRNA1):c.235-20C>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2860266	NM_000079.4(CHRNA1):c.344+17G>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2859967	NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr)	CHRNA1 (A423T +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2844599	NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2841913	NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu)	CHRNA1 (V120E +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2822198	NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)	CHRNA1 (I424T +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2814679	NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile)	CHRNA1 (T52I)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2811355	NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser)	CHRNA1 (A167S +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2810374	NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe)	CHRNA1 (L450F +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2805329	NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu)	CHRNA1 (P377L +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2789330	NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2784230	NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2780118	NM_000079.4(CHRNA1):c.541-13C>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2771436	NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro)	CHRNA1 (L436P +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2769562	NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val)	CHRNA1 (A177V +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2764585	NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +1 more	GLikely benign
Select item 2761378	NM_000079.4(CHRNA1):c.540+16A>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2756773	NM_000079.4(CHRNA1):c.778+2T>A	CHRNA1	Single nucleotide variant (splice donor variant)	Lethal multiple pterygium syndrome	GLikely pathogenic
Select item 2755256	NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2752940	NM_000079.4(CHRNA1):c.540+17T>A	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2749433	NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2741251	NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)	CHRNA1 (K145N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2739921	NM_000079.4(CHRNA1):c.1079del (p.Lys360fs)	CHRNA1 (K360fs +1 more)	Deletion (frameshift variant)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2731961	NM_000079.4(CHRNA1):c.196G>A (p.Val66Ile)	CHRNA1 (V66I)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2722981	NM_000079.4(CHRNA1):c.943G>A (p.Val315Ile)	CHRNA1 (V340I +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2710165	NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)	CHRNA1 (I361fs +1 more)	Duplication (frameshift variant)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2704923	NM_000079.4(CHRNA1):c.1002+5del	CHRNA1	Deletion (intron variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2701234	NM_000079.4(CHRNA1):c.556G>C (p.Asp186His)	CHRNA1 (D211H +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2688779	NM_000079.4(CHRNA1):c.319C>A (p.Arg107Ser)	CHRNA1 (R107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684155	NM_000079.4(CHRNA1):c.-6T>C	CHRNA1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2635284	NM_000079.4(CHRNA1):c.183C>G (p.Ile61Met)	CHRNA1 (I61M)	Single nucleotide variant (missense variant)	CHRNA1-related disorder	GUncertain significance
Select item 2629357	NM_000079.4(CHRNA1):c.1319T>C (p.Ile440Thr)	CHRNA1 (I440T +1 more)	Single nucleotide variant (missense variant)	CHRNA1-related disorder	GUncertain significance
Select item 2584890	NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)	CHRNA1 (V335F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GUncertain significance
Select item 2576013	NM_000079.4(CHRNA1):c.235-270G>T	CHRNA1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2573644	NM_000079.4(CHRNA1):c.44-1G>A	CHRNA1	Single nucleotide variant (splice acceptor variant)	Lethal multiple pterygium syndrome	GLikely pathogenic
Select item 2536352	NM_000079.4(CHRNA1):c.572T>C (p.Met191Thr)	CHRNA1 (M191T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491105	NM_000079.4(CHRNA1):c.1278G>C (p.Met426Ile)	CHRNA1 (M426I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440023	NM_000079.4(CHRNA1):c.850A>C (p.Ile284Leu)	CHRNA1 (I284L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440021	NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)	CHRNA1 (P377R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440020	NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)	CHRNA1 (A121T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2440018	NM_000079.4(CHRNA1):c.710A>G (p.Asn237Ser)	CHRNA1 (N237S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423598	NC_000002.11:g.(?_175427275)_(175629122_?)dup	CHRNA1, WIPF1	Duplication	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2417040	NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser)	CHRNA1 (N330S +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2415180	NM_000079.4(CHRNA1):c.222del (p.Arg75fs)	CHRNA1 (R75fs)	Deletion (frameshift variant)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2303396	NM_000079.4(CHRNA1):c.80T>C (p.Leu27Pro)	CHRNA1 (L27P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201695	NM_000079.4(CHRNA1):c.708C>T (p.Val236=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2200264	NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln)	CHRNA1 (R333Q +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2199084	NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His)	CHRNA1 (D338H +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2194573	NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp)	CHRNA1 (R202W +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2191131	NM_000079.4(CHRNA1):c.540G>A (p.Pro180=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2183509	NM_000079.4(CHRNA1):c.1003-6T>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2167942	NM_000079.4(CHRNA1):c.778+4G>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2165223	NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)	CHRNA1 (T126A +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2157687	NM_000079.4(CHRNA1):c.1243-7C>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2151072	NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2143765	NM_000079.4(CHRNA1):c.345-3T>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2125739	NM_000079.4(CHRNA1):c.345-63_403del	CHRNA1	Deletion (splice acceptor variant)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2123620	NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)	CHRNA1 (K104E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2120503	NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg)	CHRNA1 (K321R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2094775	NM_000079.4(CHRNA1):c.345-7del	CHRNA1	Deletion (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2094654	NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)	CHRNA1 (G473D +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2093318	NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg)	CHRNA1 (P5R)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2085818	NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe)	CHRNA1 (S409F +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance

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