54806[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 58446	GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1	AHI1, AHI1-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 903881	NM_001134831.2(AHI1):c.*1684T>C	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355479	NM_001134831.2(AHI1):c.*1646T>C	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 903882	NM_001134831.2(AHI1):c.*1568A>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355480	NM_001134831.2(AHI1):c.*1426A>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 903883	NM_001134831.2(AHI1):c.*1404A>G	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 903884	NM_001134831.2(AHI1):c.*1327C>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355481	NM_001134831.2(AHI1):c.*1317A>G	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355482	NM_001134831.2(AHI1):c.*1288T>C	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 905767	NM_001134831.2(AHI1):c.*1146T>A	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355483	NM_001134831.2(AHI1):c.*1116TAT[1]	AHI1	Microsatellite (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 355484	NM_001134831.2(AHI1):c.*1051ATTT[1]	AHI1	Microsatellite (3 prime UTR variant)	Familial aplasia of the vermis	GBenign
Select item 905768	NM_001134831.2(AHI1):c.*981C>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355485	NM_001134831.2(AHI1):c.*793A>G	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355486	NM_001134831.2(AHI1):c.*588A>G	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355487	NM_001134831.2(AHI1):c.500_504del	AHI1	Deletion (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 905769	NM_001134831.2(AHI1):c.*484G>A	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355488	NM_001134831.2(AHI1):c.*447T>A	AHI1	Single nucleotide variant (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 355489	NM_001134831.2(AHI1):c.396_397dup	AHI1	Duplication (3 prime UTR variant)	Familial aplasia of the vermis	GLikely benign
Select item 355490	NM_001134831.2(AHI1):c.*387T>G	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 905770	NM_001134831.2(AHI1):c.*246T>C	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355491	NM_001134831.2(AHI1):c.*218C>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3 +1 more	GBenign
Select item 906280	NM_001134831.2(AHI1):c.*216G>A	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355492	NM_001134831.2(AHI1):c.*110G>A	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355493	NM_001134831.2(AHI1):c.*80C>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 355494	NM_001134831.2(AHI1):c.*68C>T	AHI1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 3	GUncertain significance
Select item 3057761	NM_001134831.2(AHI1):c.*28G>A	AHI1	Single nucleotide variant (3 prime UTR variant)	AHI1-related condition	GLikely benign
Select item 260835	NM_001134831.2(AHI1):c.*28G>C	AHI1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 3058290	NM_001134831.2(AHI1):c.*27C>G	AHI1	Single nucleotide variant (3 prime UTR variant)	AHI1-related condition	GLikely benign
Select item 2656925	NM_001134831.2(AHI1):c.*13A>G	AHI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1476248	NM_001134831.2(AHI1):c.3589-3C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 1652089	NM_001134831.2(AHI1):c.3589-5dup	AHI1	Duplication (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 219476	NM_001134831.2(AHI1):c.3589-5T>C	AHI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897846	NM_001134831.2(AHI1):c.3589-11T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2023713	NM_001134831.2(AHI1):c.3589-14A>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1997117	NM_001134831.2(AHI1):c.3589-14A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 681542	NM_001134831.2(AHI1):c.3589-16G>A	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 675064	NM_001134831.2(AHI1):c.3589-106A>G	AHI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680020	NM_001134831.2(AHI1):c.3589-209G>A	AHI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269277	NM_001134831.2(AHI1):c.3588+210G>A	AHI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2033323	NM_001134831.2(AHI1):c.3588+18A>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2768318	NM_001134831.2(AHI1):c.3588+17T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2131161	NM_001134831.2(AHI1):c.3588+16A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1636673	NM_001134831.2(AHI1):c.3588+15A>T	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +1 more	GLikely benign
Select item 2793173	NM_001134831.2(AHI1):c.3588+11A>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2110993	NM_001134831.2(AHI1):c.3588+9A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1389936	NM_001134831.2(AHI1):c.3588+2T>A	AHI1	Single nucleotide variant (splice donor variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 839490	NM_001134831.2(AHI1):c.3588+1G>A	AHI1	Single nucleotide variant (splice donor variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1000123	NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1439493	NM_001134831.2(AHI1):c.3586G>A (p.Glu1196Lys)	AHI1 (E1196K)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 842041	NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)	AHI1 (I1195V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1550814	NM_001134831.2(AHI1):c.3582A>G (p.Leu1194=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 196036	NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1025084	NM_001134831.2(AHI1):c.3578C>G (p.Thr1193Ser)	AHI1 (T1193S)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 2096666	NM_001134831.2(AHI1):c.3577A>G (p.Thr1193Ala)	AHI1 (T1193A)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 2706241	NM_001134831.2(AHI1):c.3568A>C (p.Arg1190=)	AHI1	Single nucleotide variant (intron variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2724009	NM_001134831.2(AHI1):c.3567C>G (p.Gly1189=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1645886	NM_001134831.2(AHI1):c.3564A>G (p.Ala1188=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2167460	NM_001134831.2(AHI1):c.3546G>C (p.Met1182Ile)	AHI1 (M1182I)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 286680	NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile)	AHI1 (M1182I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 1580135	NM_001134831.2(AHI1):c.3543G>A (p.Arg1181=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 355495	NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)	AHI1 (R1181Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1375360	NM_001134831.2(AHI1):c.3541C>T (p.Arg1181Trp)	AHI1 (R1181W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 512616	NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)	AHI1 (D1179Y)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2733586	NM_001134831.2(AHI1):c.3510C>T (p.Ser1170=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1610165	NM_001134831.2(AHI1):c.3504A>G (p.Glu1168=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 388935	NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)	AHI1 (E1168G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2871164	NM_001134831.2(AHI1):c.3501del (p.Glu1168fs)	AHI1 (E1168fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 1112036	NM_001134831.2(AHI1):c.3498A>G (p.Arg1166=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 999860	NM_001134831.2(AHI1):c.3491A>C (p.Glu1164Ala)	AHI1 (E1164A)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
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 1478162	NM_001134831.2(AHI1):c.3486-3T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 355496	NM_001134831.2(AHI1):c.3486-4A>G	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2443097	NM_001134831.2(AHI1):c.3486-10C>T	AHI1	Single nucleotide variant (intron 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 2822384	NM_001134831.2(AHI1):c.3486-15C>A	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1266307	NM_001134831.2(AHI1):c.3485+174del	AHI1	Deletion (intron variant)	not provided	GBenign
Select item 1248342	NM_001134831.2(AHI1):c.3485+159_3485+161del	AHI1	Deletion (intron variant)	not provided	GBenign
Select item 1190534	NM_001134831.2(AHI1):c.3485+159_3485+160del	AHI1	Deletion (intron variant)	not provided	GLikely benign
Select item 1293647	NM_001134831.2(AHI1):c.3485+159del	AHI1	Deletion (intron variant)	not provided	GBenign
Select item 1260750	NM_001134831.2(AHI1):c.3485+159C>T	AHI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260859	NM_001134831.2(AHI1):c.3485+43G>C	AHI1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 260858	NM_001134831.2(AHI1):c.3485+38G>C	AHI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2752711	NM_001134831.2(AHI1):c.3485+18A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2719111	NM_001134831.2(AHI1):c.3485+17A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1590690	NM_001134831.2(AHI1):c.3485+16A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 260857	NM_001134831.2(AHI1):c.3485+13_3485+15del	AHI1	Microsatellite (intron variant)	Familial aplasia of the vermis +1 more	GBenign
Select item 2720384	NM_001134831.2(AHI1):c.3485+8A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1517328	NM_001134831.2(AHI1):c.3485+6C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	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 1443739	NM_001134831.2(AHI1):c.3480G>A (p.Met1160Ile)	AHI1 (M1160I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 856975	NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)	AHI1 (M1160V)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 2783708	NM_001134831.2(AHI1):c.3474del (p.Glu1158fs)	AHI1 (E1158fs)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 2695461	NM_001134831.2(AHI1):c.3471A>C (p.Ser1157=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 1934425	NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)	AHI1 (G1156V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2839375	NM_001134831.2(AHI1):c.3456C>T (p.Asp1152=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign

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