ClinVar for Gene (Select 54806) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367358	NM_001134831.2(AHI1):c.2849G>A (p.Cys950Tyr)	AHI1 (C950Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366415	NC_000006.11:g.(135732683_135748304)_(135751139_135752345)del	AHI1	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366410	NC_000006.11:g.(135732683_135748304)_(135752453_135754164)del	AHI1	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3364618	NM_001134831.2(AHI1):c.3290A>T (p.Gln1097Leu)	AHI1 (Q1097L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362029	NM_001134831.2(AHI1):c.1097T>G (p.Val366Gly)	AHI1 (V366G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361668	NM_001134831.2(AHI1):c.1429G>C (p.Ala477Pro)	AHI1 (A477P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359286	NM_001134831.2(AHI1):c.2163G>T (p.Met721Ile)	AHI1 (M721I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343172	NM_001134831.2(AHI1):c.1315G>A (p.Glu439Lys)	AHI1 (E439K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342838	NM_001134831.2(AHI1):c.2956_2957del (p.Val986fs)	AHI1 (V986fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3277226	NM_001134831.2(AHI1):c.166A>G (p.Met56Val)	AHI1 (M56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277215	NM_001134831.2(AHI1):c.3557A>G (p.Lys1186Arg)	AHI1 (K1186R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3277200	NM_001134831.2(AHI1):c.2762A>G (p.His921Arg)	AHI1 (H921R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277189	NM_001134831.2(AHI1):c.2122G>A (p.Ala708Thr)	AHI1 (A708T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277180	NM_001134831.2(AHI1):c.1356C>A (p.Phe452Leu)	AHI1 (F452L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277169	NM_001134831.2(AHI1):c.2875G>A (p.Gly959Ser)	AHI1 (G959S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246073	NC_000006.11:g.(?_135606783)_(138202456_?)del	AHI1, BCLAF1 +12 more	Deletion	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 3245981	NC_000006.11:g.(?_135772926)_(135778775_?)del	AHI1	Deletion	Familial aplasia of the vermis	GLikely pathogenic
Select item 3245980	NC_000006.11:g.(?_135748388)_(135757374_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245979	NC_000006.11:g.(?_135679250)_(135788792_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245977	NC_000006.11:g.(?_135748285)_(135763872_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245976	NC_000006.11:g.(?_135639637)_(135639774_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245975	NC_000006.11:g.(?_135759493)_(135759656_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3098764	NM_001134831.2(AHI1):c.41T>A (p.Val14Asp)	AHI1 (V14D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098751	NM_001134831.2(AHI1):c.3402A>G (p.Ile1134Met)	AHI1 (I1134M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3098748	NM_001134831.2(AHI1):c.3352G>A (p.Glu1118Lys)	AHI1 (E1118K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098738	NM_001134831.2(AHI1):c.3316G>T (p.Val1106Leu)	AHI1 (V1106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098673	NM_001134831.2(AHI1):c.2834G>T (p.Ser945Ile)	AHI1 (S945I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098597	NM_001134831.2(AHI1):c.1720A>T (p.Thr574Ser)	AHI1 (T574S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098595	NM_001134831.2(AHI1):c.1715T>C (p.Val572Ala)	AHI1 (V572A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098536	NM_001134831.2(AHI1):c.1172A>G (p.Tyr391Cys)	AHI1 (Y391C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064191	NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)	AHI1 (F478L)	Single nucleotide variant (missense variant)	Joubert syndrome 3	GUncertain significance
Select item 3063629	NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)	AHI1 (H1162Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062903	GRCh37/hg19 6q23.3(chr6:135721284-136235022)x3	AHI1, PDE7B	Copy number gain	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3058290	NM_001134831.2(AHI1):c.*27C>G	AHI1	Single nucleotide variant (3 prime UTR variant)	AHI1-related disorder	GLikely benign
Select item 3057761	NM_001134831.2(AHI1):c.*28G>A	AHI1	Single nucleotide variant (3 prime UTR variant)	AHI1-related disorder	GLikely benign
Select item 3032616	NM_001134831.2(AHI1):c.119C>T (p.Ser40Phe)	AHI1 (S40F)	Single nucleotide variant (missense variant)	AHI1-related disorder	GUncertain significance
Select item 3023116	NM_001134831.2(AHI1):c.1912+17C>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3022719	NM_001134831.2(AHI1):c.11-6T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3021915	NM_001134831.2(AHI1):c.1152-1G>A	AHI1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GPathogenic
Select item 3021105	NM_001134831.2(AHI1):c.429G>A (p.Pro143=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3020089	NM_001134831.2(AHI1):c.1338C>T (p.Phe446=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3019381	NM_001134831.2(AHI1):c.135+15A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3018594	NM_001134831.2(AHI1):c.3110-20dup	AHI1	Duplication (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3018181	NM_001134831.2(AHI1):c.2502A>G (p.Ala834=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3017609	NM_001134831.2(AHI1):c.2962-16A>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3015196	NM_001134831.2(AHI1):c.2178A>G (p.Lys726=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3014847	NM_001134831.2(AHI1):c.1151+12dup	AHI1	Duplication (intron variant)	Familial aplasia of the vermis	GBenign
Select item 3014619	NM_001134831.2(AHI1):c.3069C>G (p.Thr1023=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3014132	NM_001134831.2(AHI1):c.1818T>C (p.Asn606=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3010852	NM_001134831.2(AHI1):c.3166-9C>T	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3009642	NM_001134831.2(AHI1):c.1398C>T (p.Asn466=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3008802	NM_001134831.2(AHI1):c.2493-5T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3006355	NM_001134831.2(AHI1):c.1441-15A>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3005958	NM_001134831.2(AHI1):c.135+10T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3004215	NM_001134831.2(AHI1):c.1913-18_1913-17insTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA	AHI1	Insertion (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001579	NM_001134831.2(AHI1):c.2805A>C (p.Gly935=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001320	NM_001134831.2(AHI1):c.3384T>C (p.Pro1128=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001150	NM_001134831.2(AHI1):c.177T>C (p.Thr59=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001111	NM_001134831.2(AHI1):c.1608A>G (p.Gly536=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3000974	NM_001134831.2(AHI1):c.3486-11C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3000173	NM_001134831.2(AHI1):c.54A>G (p.Glu18=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2999795	NM_001134831.2(AHI1):c.189+13A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2999355	NM_001134831.2(AHI1):c.1913-1G>A	AHI1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2997855	NM_001134831.2(AHI1):c.2781T>C (p.Ala927=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2996316	NM_001134831.2(AHI1):c.3427-1G>A	AHI1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2995958	NM_001134831.2(AHI1):c.2624-16CT[2]	AHI1	Microsatellite (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2990114	NM_001134831.2(AHI1):c.931+14A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2988549	NM_001134831.2(AHI1):c.3328+13C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2986933	NM_001134831.2(AHI1):c.3426+11T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2986915	NM_001134831.2(AHI1):c.189+20A>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2983341	NM_001134831.2(AHI1):c.2036+9C>A	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2983075	NM_001134831.2(AHI1):c.2226T>G (p.Val742=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2978680	NM_001134831.2(AHI1):c.3069C>T (p.Thr1023=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2978312	NM_001134831.2(AHI1):c.1029T>C (p.Leu343=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2978087	NM_001134831.2(AHI1):c.2544T>C (p.His848=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2977271	NM_001134831.2(AHI1):c.2844C>G (p.Ala948=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2977117	NM_001134831.2(AHI1):c.1779+20_1779+32del	AHI1	Deletion (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2976233	NM_001134831.2(AHI1):c.993C>T (p.Ser331=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2972974	NM_001134831.2(AHI1):c.3109+19T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2971911	NM_001134831.2(AHI1):c.1026C>T (p.Asp342=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2971667	NM_001134831.2(AHI1):c.573A>G (p.Ala191=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2971515	NM_001134831.2(AHI1):c.3486-2A>T	AHI1	Single nucleotide variant (splice acceptor variant +1 more)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2964960	NM_001134831.2(AHI1):c.2859A>G (p.Pro953=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2963005	NM_001134831.2(AHI1):c.314A>G (p.Gln105Arg)	AHI1 (Q105R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2962968	NM_001134831.2(AHI1):c.2266+7C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2962888	NM_001134831.2(AHI1):c.849C>T (p.Ser283=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2961595	NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)	AHI1 (Q1141*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic
Select item 2961198	NM_001134831.2(AHI1):c.1912+7A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2960671	NM_001134831.2(AHI1):c.1185G>A (p.Glu395=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2960138	NM_001134831.2(AHI1):c.96del (p.Lys32fs)	AHI1 (K32fs)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 2959875	NM_001134831.2(AHI1):c.2847A>G (p.Leu949=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2958147	NM_001134831.2(AHI1):c.1236G>A (p.Gln412=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2957571	NM_001134831.2(AHI1):c.1151+20_1151+21del	AHI1	Microsatellite (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2955523	NM_001134831.2(AHI1):c.1779+11T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2921048	NM_001134831.2(AHI1):c.3109+6788A>C	AHI1 (K1052T)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 3	GUncertain significance
Select item 2920809	NM_001134831.2(AHI1):c.*1A>C	AHI1 (K1163N)	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 3	GUncertain significance
Select item 2918020	NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)	AHI1 (Q1030*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic
Select item 2917847	NM_001134831.2(AHI1):c.663A>G (p.Ser221=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign

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