ClinVar for Gene (Select 196527) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299026	NM_001025356.3(ANO6):c.1484C>T (p.Thr495Ile)	ANO6 (T516I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299017	NM_001025356.3(ANO6):c.814T>C (p.Trp272Arg)	ANO6 (W272R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299008	NM_001025356.3(ANO6):c.137G>A (p.Arg46Gln)	ANO6 (R67Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298998	NM_001025356.3(ANO6):c.727G>T (p.Ala243Ser)	ANO6 (A264S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298989	NM_001025356.3(ANO6):c.2294G>A (p.Gly765Glu)	ANO6 (G754E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298980	NM_001025356.3(ANO6):c.764A>C (p.Gln255Pro)	ANO6 (Q237P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3298960	NM_001025356.3(ANO6):c.460C>T (p.Arg154Trp)	ANO6 (R175W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298950	NM_001025356.3(ANO6):c.758G>A (p.Arg253His)	ANO6 (R235H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298942	NM_001025356.3(ANO6):c.2387C>T (p.Pro796Leu)	ANO6 (P817L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298931	NM_001025356.3(ANO6):c.611A>G (p.Asn204Ser)	ANO6 (N204S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127120	NM_001025356.3(ANO6):c.943G>A (p.Val315Ile)	ANO6 (V315I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127118	NM_001025356.3(ANO6):c.71T>C (p.Val24Ala)	ANO6 (V13A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127117	NM_001025356.3(ANO6):c.48G>C (p.Glu16Asp)	ANO6 (E16D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3127116	NM_001025356.3(ANO6):c.2408A>G (p.His803Arg)	ANO6 (H785R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127115	NM_001025356.3(ANO6):c.2354T>C (p.Val785Ala)	ANO6 (V785A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127114	NM_001025356.3(ANO6):c.2227A>G (p.Ile743Val)	ANO6 (I725V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127113	NM_001025356.3(ANO6):c.2197A>G (p.Ile733Val)	ANO6 (I715V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127111	NM_001025356.3(ANO6):c.1468A>G (p.Lys490Glu)	ANO6 (K472E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127110	NM_001025356.3(ANO6):c.1435T>C (p.Ser479Pro)	ANO6 (S461P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127109	NM_001025356.3(ANO6):c.1426T>G (p.Tyr476Asp)	ANO6 (Y458D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127108	NM_001025356.3(ANO6):c.127C>T (p.His43Tyr)	ANO6 (H32Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127107	NM_001025356.3(ANO6):c.106T>G (p.Leu36Val)	ANO6 (L36V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068917	NM_001025356.3(ANO6):c.1880+3G>C	ANO6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3068916	NM_001025356.3(ANO6):c.748-8C>T	ANO6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 3038001	NM_001142679.2(ANO6):c.2527-11_2527-8del	ANO6	Deletion (intron variant)	ANO6-related disorder	GLikely benign
Select item 3034994	NM_001142679.2(ANO6):c.2527-12_2527-8del	ANO6	Deletion (intron variant)	ANO6-related disorder	GLikely benign
Select item 3029828	NM_001025356.3(ANO6):c.279+9T>G	ANO6	Single nucleotide variant (intron variant)	ANO6-related disorder	GLikely benign
Select item 3029058	NM_001025356.3(ANO6):c.2049T>C (p.Ser683=)	ANO6	Single nucleotide variant (synonymous variant)	ANO6-related disorder	GLikely benign
Select item 3019415	NM_001025356.3(ANO6):c.2358A>G (p.Ala786=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013095	NM_001025356.3(ANO6):c.2292C>T (p.Tyr764=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004446	NM_001025356.3(ANO6):c.1031A>G (p.Lys344Arg)	ANO6 (K326R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3003368	NM_001025356.3(ANO6):c.827G>A (p.Arg276Gln)	ANO6 (R265Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002676	NM_001025356.3(ANO6):c.1612+14A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996484	NM_001025356.3(ANO6):c.911A>G (p.Tyr304Cys)	ANO6 (Y286C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996298	NM_001025356.3(ANO6):c.633+19T>A	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995889	NM_001025356.3(ANO6):c.2420+16C>T	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988767	NM_001025356.3(ANO6):c.538G>T (p.Glu180Ter)	ANO6 (E201* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2988198	NM_001025356.3(ANO6):c.1309-15T>G	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987461	NM_001025356.3(ANO6):c.1309-15T>C	ANO6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2984869	NM_001025356.3(ANO6):c.2526+13T>A	ANO6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2984868	NM_001025356.3(ANO6):c.407A>G (p.Tyr136Cys)	ANO6 (Y118C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984575	NM_001025356.3(ANO6):c.2273C>T (p.Ser758Phe)	ANO6 (S740F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983634	NM_001025356.3(ANO6):c.969A>G (p.Gly323=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980893	NM_001025356.3(ANO6):c.1812G>T (p.Leu604=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980803	NM_001025356.3(ANO6):c.346-4A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978156	NM_001025356.3(ANO6):c.2238G>A (p.Thr746=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975491	NM_001025356.3(ANO6):c.279+13G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974435	NM_001025356.3(ANO6):c.1105A>T (p.Lys369Ter)	ANO6 (K351* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2973181	NM_001025356.3(ANO6):c.1710A>G (p.Ala570=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973147	NM_001025356.3(ANO6):c.2688G>C (p.Arg896=)	ANO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968580	NM_001025356.3(ANO6):c.71-16A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964023	NM_001025356.3(ANO6):c.1119C>T (p.Phe373=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962219	NM_001025356.3(ANO6):c.2076C>T (p.Leu692=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962093	NM_001025356.3(ANO6):c.1308+12C>T	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958538	NM_001025356.3(ANO6):c.2148G>A (p.Glu716=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955020	NM_001025356.3(ANO6):c.71-17del	ANO6	Deletion (intron variant)	not provided	GLikely benign
Select item 2910574	NM_001025356.3(ANO6):c.2124C>G (p.Thr708=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906852	NM_001025356.3(ANO6):c.520A>G (p.Ile174Val)	ANO6 (I156V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896833	NM_001025356.3(ANO6):c.71-4T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893739	NM_001025356.3(ANO6):c.159T>C (p.Phe53=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2889303	NM_001025356.3(ANO6):c.2293G>A (p.Gly765Arg)	ANO6 (G754R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2889272	NM_001025356.3(ANO6):c.513C>T (p.Asp171=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888554	NM_001025356.3(ANO6):c.2529C>T (p.His843=)	ANO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883319	NM_001025356.3(ANO6):c.1195C>T (p.Arg399Cys)	ANO6 (R388C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882906	NM_001025356.3(ANO6):c.1617C>A (p.Leu539=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877884	NM_001025356.3(ANO6):c.2038_2042del (p.Phe680fs)	ANO6 (F701fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2875031	NM_001025356.3(ANO6):c.1770C>T (p.Tyr590=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872075	NM_001025356.3(ANO6):c.2001T>C (p.Tyr667=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867447	NM_001025356.3(ANO6):c.1694C>A (p.Ser565Ter)	ANO6 (S554* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865427	NM_001025356.3(ANO6):c.297C>G (p.Tyr99Ter)	ANO6 (Y88* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2860527	NM_001025356.3(ANO6):c.151-20T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832937	NM_001025356.3(ANO6):c.786T>A (p.Pro262=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827003	NM_001025356.3(ANO6):c.1689C>G (p.Tyr563Ter)	ANO6 (Y545* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2810077	NM_001025356.3(ANO6):c.2217+1G>A	ANO6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2809692	NM_001025356.3(ANO6):c.192T>C (p.Asp64=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805021	NM_001025356.3(ANO6):c.2307C>T (p.Ser769=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798210	NM_001025356.3(ANO6):c.634-1G>A	ANO6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2782016	NM_001025356.3(ANO6):c.900T>C (p.Ala300=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766467	NM_001025356.3(ANO6):c.267del (p.Asn89fs)	ANO6 (N71fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2751221	NM_001025356.3(ANO6):c.1299G>A (p.Glu433=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724155	NM_001025356.3(ANO6):c.1617C>T (p.Leu539=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722686	NM_001025356.3(ANO6):c.634-7T>C	ANO6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2718680	NM_001025356.3(ANO6):c.1401C>T (p.Ile467=)	ANO6	Single nucleotide variant (synonymous variant)	ANO6-related disorder +1 more	GLikely benign
Select item 2717136	NM_001025356.3(ANO6):c.2241G>A (p.Ser747=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715531	NM_001025356.3(ANO6):c.219A>C (p.Leu73=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713515	NM_001025356.3(ANO6):c.2012-8A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699107	NM_001025356.3(ANO6):c.1782+18T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695631	NM_001025356.3(ANO6):c.2412_2413insT (p.Thr805fs)	ANO6 (T787fs +3 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2691664	NM_001025356.3(ANO6):c.586A>G (p.Ile196Val)	ANO6 (I178V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2682566	NM_001025356.3(ANO6):c.239G>A (p.Arg80Lys)	ANO6 (R101K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664040	NM_001025356.3(ANO6):c.1622G>A (p.Arg541Lys)	ANO6 (R523K +3 more)	Single nucleotide variant (missense variant)	SCOTT SYNDROME	GUncertain significance
Select item 2642907	NM_001142679.2(ANO6):c.2760G>A (p.Pro920=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642906	NM_001142679.2(ANO6):c.2595A>T (p.Pro865=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634741	NM_001025356.3(ANO6):c.1252dup (p.Ala418fs)	ANO6 (A400fs +3 more)	Duplication (frameshift variant)	ANO6-related disorder	GLikely pathogenic
Select item 2633787	NM_001025356.3(ANO6):c.2339_2342del (p.Leu780fs)	ANO6 (L762fs +3 more)	Microsatellite (frameshift variant)	ANO6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2632662	NM_001025356.3(ANO6):c.1880+1G>C	ANO6	Single nucleotide variant (splice donor variant)	ANO6-related disorder	GLikely pathogenic
Select item 2632341	NM_001025356.3(ANO6):c.1874T>G (p.Leu625Ter)	ANO6 (L607* +3 more)	Single nucleotide variant (nonsense)	ANO6-related disorder	GLikely pathogenic
Select item 2627032	NM_001025356.3(ANO6):c.2660C>T (p.Thr887Met)	ANO6 (T869M +3 more)	Single nucleotide variant (missense variant +1 more)	SCOTT SYNDROME	GUncertain significance
Select item 2626770	NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)	ANO6 (R401* +2 more)	Single nucleotide variant (nonsense)	SCOTT SYNDROME	GPathogenic

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