196527[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 2584645	NC_000012.12:g.(?_45216094)_(45367794_45378052)del	ANO6, LOC130007724 +1 more	Deletion	SCOTT SYNDROME	GPathogenic
Select item 2186525	NM_001025356.3(ANO6):c.20A>G (p.Asn7Ser)	ANO6 (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287551	NM_001025356.3(ANO6):c.70+252C>T	ANO6, LOC130007724	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280858	NM_001025356.3(ANO6):c.71-31584G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145014	GRCh38/hg38 12q12(chr12:45273857-45388630)x1	ANO6	Copy number loss	See cases	GBenign
Select item 1253693	NM_001025356.3(ANO6):c.71-8817A>C	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263239	NM_001025356.3(ANO6):c.71-62C>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955020	NM_001025356.3(ANO6):c.71-17del	ANO6	Deletion (intron variant)	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 2419409	NM_001025356.3(ANO6):c.71-8del	ANO6	Deletion (intron variant)	not provided	GLikely benign
Select item 2896833	NM_001025356.3(ANO6):c.71-4T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051043	NM_001025356.3(ANO6):c.94A>T (p.Ile32Phe)	ANO6 (I14F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2603132	NM_001025356.3(ANO6):c.101C>T (p.Pro34Leu)	ANO6 (P16L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 257139	NM_001025356.3(ANO6):c.102C>T (p.Pro34=)	ANO6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2007441	NM_001025356.3(ANO6):c.108G>A (p.Leu36=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070898	NM_001025356.3(ANO6):c.143C>T (p.Pro48Leu)	ANO6 (P30L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911021	NM_001025356.3(ANO6):c.144G>A (p.Pro48=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 257141	NM_001025356.3(ANO6):c.150+14C>T	ANO6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290375	NM_001025356.3(ANO6):c.151-289G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2860527	NM_001025356.3(ANO6):c.151-20T>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 2048494	NM_001025356.3(ANO6):c.161A>G (p.Asn54Ser)	ANO6 (N54S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2072800	NM_001025356.3(ANO6):c.174C>G (p.Asp58Glu)	ANO6 (D58E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174118	NM_001025356.3(ANO6):c.189T>A (p.Asn63Lys)	ANO6 (N45K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2809692	NM_001025356.3(ANO6):c.192T>C (p.Asp64=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717081	NM_001025356.3(ANO6):c.206T>A (p.Ile69Asn)	ANO6 (I51N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2609139	NM_001025356.3(ANO6):c.217C>A (p.Leu73Ile)	ANO6 (L62I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2715531	NM_001025356.3(ANO6):c.219A>C (p.Leu73=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736634	NM_001025356.3(ANO6):c.228G>A (p.Glu76=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2069489	NM_001025356.3(ANO6):c.231T>C (p.Asp77=)	ANO6	Single nucleotide variant (synonymous variant)	ANO6-related condition +1 more	GBenign/Likely benign
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 2766467	NM_001025356.3(ANO6):c.267del (p.Asn89fs)	ANO6 (N71fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2056709	NM_001025356.3(ANO6):c.276A>G (p.Gln92=)	ANO6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3029828	NM_001025356.3(ANO6):c.279+9T>G	ANO6	Single nucleotide variant (intron variant)	ANO6-related condition	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 1991914	NM_001025356.3(ANO6):c.279+15T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729448	NM_001025356.3(ANO6):c.294A>G (p.Ala98=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2029137	NM_001025356.3(ANO6):c.324G>A (p.Leu108=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110164	NM_001025356.3(ANO6):c.326A>G (p.Gln109Arg)	ANO6 (Q109R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2472011	NM_001025356.3(ANO6):c.333A>C (p.Glu111Asp)	ANO6 (E111D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045435	NM_001025356.3(ANO6):c.345+11del	ANO6	Deletion (intron 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 2418490	NM_001025356.3(ANO6):c.381C>T (p.His127=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 257146	NM_001025356.3(ANO6):c.382G>A (p.Ala128Thr)	ANO6 (A110T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2054555	NM_001025356.3(ANO6):c.399A>T (p.Leu133Phe)	ANO6 (L133F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041457	NM_001025356.3(ANO6):c.405G>A (p.Thr135=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2545051	NM_001025356.3(ANO6):c.416T>C (p.Ile139Thr)	ANO6 (I128T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2280141	NM_001025356.3(ANO6):c.454A>G (p.Lys152Glu)	ANO6 (K134E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348576	NM_001025356.3(ANO6):c.461G>A (p.Arg154Gln)	ANO6 (R175Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611602	NM_001025356.3(ANO6):c.467C>T (p.Ser156Leu)	ANO6 (S156L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889272	NM_001025356.3(ANO6):c.513C>T (p.Asp171=)	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 2988767	NM_001025356.3(ANO6):c.538G>T (p.Glu180Ter)	ANO6 (E201* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2289745	NM_001025356.3(ANO6):c.568C>T (p.Arg190Trp)	ANO6 (R172W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2415374	NM_001025356.3(ANO6):c.569G>A (p.Arg190Gln)	ANO6 (R172Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925054	NM_001025356.3(ANO6):c.577G>T (p.Asp193Tyr)	ANO6 (D193Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1913530	NM_001025356.3(ANO6):c.597A>G (p.Arg199=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996298	NM_001025356.3(ANO6):c.633+19T>A	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722686	NM_001025356.3(ANO6):c.634-7T>C	ANO6	Single nucleotide variant (intron variant)	ANO6-related condition +1 more	GBenign/Likely 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 2394613	NM_001025356.3(ANO6):c.659A>T (p.Lys220Met)	ANO6 (K209M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584646	NM_001025356.3(ANO6):c.747+1G>A	ANO6	Single nucleotide variant (splice donor variant)	SCOTT SYNDROME	GPathogenic
Select item 1248414	NM_001025356.3(ANO6):c.747+103A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3068916	NM_001025356.3(ANO6):c.748-8C>T	ANO6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 257147	NM_001025356.3(ANO6):c.748-7G>A	ANO6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2180993	NM_001025356.3(ANO6):c.757C>T (p.Arg253Cys)	ANO6 (R235C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340958	NM_001025356.3(ANO6):c.760C>T (p.Arg254Cys)	ANO6 (R236C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2832937	NM_001025356.3(ANO6):c.786T>A (p.Pro262=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010513	NM_001025356.3(ANO6):c.804G>C (p.Leu268=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584644	NM_001025356.3(ANO6):c.826C>T (p.Arg276Ter)	ANO6 (R297* +3 more)	Single nucleotide variant (nonsense)	SCOTT SYNDROME	GPathogenic
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 2367642	NM_001025356.3(ANO6):c.889A>G (p.Ile297Val)	ANO6 (I318V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2782016	NM_001025356.3(ANO6):c.900T>C (p.Ala300=)	ANO6	Single nucleotide variant (synonymous 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 2117162	NM_001025356.3(ANO6):c.922A>G (p.Met308Val)	ANO6 (M329V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257148	NM_001025356.3(ANO6):c.936C>T (p.Ala312=)	ANO6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2408998	NM_001025356.3(ANO6):c.937G>A (p.Ala313Thr)	ANO6 (A313T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2053469	NM_001025356.3(ANO6):c.998+5C>G	ANO6	Single nucleotide variant (intron variant)	ANO6-related condition +1 more	GBenign
Select item 1987667	NM_001025356.3(ANO6):c.999-19T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1943276	NM_001025356.3(ANO6):c.999-12C>T	ANO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2241677	NM_001025356.3(ANO6):c.1013A>G (p.His338Arg)	ANO6 (H327R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3004446	NM_001025356.3(ANO6):c.1031A>G (p.Lys344Arg)	ANO6 (K326R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268781	NM_001025356.3(ANO6):c.1041G>T (p.Met347Ile)	ANO6 (M336I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1953316	NM_001025356.3(ANO6):c.1068A>C (p.Pro356=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223673	NM_001025356.3(ANO6):c.1093G>A (p.Glu365Lys)	ANO6 (E347K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1909464	NM_001025356.3(ANO6):c.1104+12T>G	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 2964023	NM_001025356.3(ANO6):c.1119C>T (p.Phe373=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949375	NM_001025356.3(ANO6):c.1134C>G (p.Thr378=)	ANO6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1273514	NM_001025356.3(ANO6):c.1165+138G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990473	NM_001025356.3(ANO6):c.1166-17T>C	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1965938	NM_001025356.3(ANO6):c.1196G>A (p.Arg399His)	ANO6 (R399H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584647	NM_001025356.3(ANO6):c.1219dup (p.Trp407fs)	ANO6 (W389fs +3 more)	Duplication (frameshift variant)	SCOTT SYNDROME	GPathogenic

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