"clinvar_gene"[Filter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385321	NM_001005484.2(OR4F5):c.9+1354del	OR4F5	Deletion (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 2205837	NM_001005484.2(OR4F5):c.107A>G (p.Glu36Gly)	OR4F5 (E36G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3925305	NM_001005484.2(OR4F5):c.281A>G (p.Lys94Arg)	OR4F5 (K94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205580	NM_001005484.2(OR4F5):c.287T>G (p.Ile96Ser)	OR4F5 (I96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3925306	NM_001005484.2(OR4F5):c.377T>C (p.Met126Thr)	OR4F5 (M126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205581	NM_001005484.2(OR4F5):c.396G>A (p.Met132Ile)	OR4F5 (M132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4127217	NM_001005484.2(OR4F5):c.479C>G (p.Ala160Gly)	OR4F5 (A160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252161	NM_001005484.2(OR4F5):c.554C>G (p.Pro185Arg)	OR4F5 (P185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4127216	NM_001005484.2(OR4F5):c.596T>C (p.Ile199Thr)	OR4F5 (I199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396347	NM_001005484.2(OR4F5):c.655G>A (p.Val219Met)	OR4F5 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205582	NM_001005484.2(OR4F5):c.704T>C (p.Ile235Thr)	OR4F5 (I235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288999	NM_001005484.2(OR4F5):c.742T>C (p.Ser248Pro)	OR4F5 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4127215	NM_001005484.2(OR4F5):c.929C>T (p.Thr310Met)	OR4F5 (T310M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3925307	NM_001005484.2(OR4F5):c.962A>C (p.His321Pro)	OR4F5 (H321P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351346	NM_001005484.2(OR4F5):c.968G>C (p.Ser323Thr)	OR4F5 (S323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151336	GRCh37/hg19 1p36.11(chr1:26930197-26968251)x1	LOC129929833, LOC129929834 +1 more	Copy number loss	See cases	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929075, LOC129929076 +2154 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 4506524	NR_039983.2(LOC729737):n.927G>C	LOC729737	Single nucleotide variant (non-coding transcript variant)	Not Specified
Select item 4506682	NR_039983.2(LOC729737):n.493G>C	LOC729737	Single nucleotide variant (non-coding transcript variant)	Not Specified
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929182, LOC129929183 +521 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	ACAP3, ACOT7 +459 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	ACAP3, ACTRT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 146981	GRCh38/hg38 1p36.33(chr1:629055-714368)x1	LOC121967041, MIR12136 +1 more	Copy number loss	See cases	GBenign
Select item 4286633	NC_000001.11:g.766400AATA[1]	LOC100288069	Microsatellite	Not Specified
Select item 4501594	NC_000001.11:g.778062T>C	LOC100288069	Single nucleotide variant	Not Specified
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	ACAP3, ACTRT2 +339 more	Copy number gain	See cases	GPathogenic
Select item 3892489	NC_000001.11:g.809289_809290insATCAGGTCA	LINC01409	Insertion	Brown-Vialetto-van Laere syndrome 1 +1 more	GBenign
Select item 1684638	Single allele	ACAP3, AGRN +182 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 4466395	NR_103536.1(FAM87B):n.833-40G>T	FAM87B	Single nucleotide variant (intron variant)	Not Specified
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	ACAP3, ACTRT2 +326 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	MIB2, MIR200A +338 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	PUSL1, RER1 +255 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	ACAP3, AGRN +250 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	ACAP3, ACTRT2 +342 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	LOC129929159, LOC129929160 +244 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +276 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	LINC01672, LINC01770 +450 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +285 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC110121223, LOC110599576 +321 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +338 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	LOC129929057, LOC129929058 +239 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	LOC129929144, LOC129929145 +239 more	Copy number loss	See cases	GPathogenic
Select item 148486	GRCh38/hg38 1p36.33(chr1:821713-1223352)x1	AGRN, C1orf159 +74 more	Copy number loss	See cases	GUncertain significance
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	LOC129388423, LOC129388424 +326 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +333 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, KLHL17 +75 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +245 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	ACAP3, ACOT7 +471 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	LOC129929325, LOC129929326 +808 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC126805578, LOC126805579 +491 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +326 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	LOC129929235, LOC129929236 +442 more	Copy number loss	See cases	GPathogenic
Select item 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +206 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	LOC129929062, LOC129929063 +330 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ARHGEF16, ATAD3A +402 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +293 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	ACAP3, AGRN +253 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +245 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	LOC129929104, LOC129929105 +271 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	ACAP3, ACTRT2 +340 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	TPRG1L, TTC34 +402 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +261 more	Copy number loss	See cases	GPathogenic
Select item 145395	GRCh38/hg38 1p36.33(chr1:844353-911241)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +342 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ISG15, KLHL17 +275 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	LOC129929064, LOC129929065 +235 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	LOC129929092, LOC129929093 +238 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +520 more	Copy number loss	See cases	GPathogenic
Select item 147022	GRCh38/hg38 1p36.33(chr1:859245-911327)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +326 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	LOC129929087, LOC129929088 +247 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +247 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	LOC129929098, LOC129929099 +321 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	ACAP3, ACTRT2 +254 more	Copy number loss	See cases	GPathogenic
Select item 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	LOC129929068, LOC129929069 +199 more	Copy number loss	See cases	GPathogenic
Select item 4473043	NR_027055.1(FAM41C):n.1101+62G>T	FAM41C	Single nucleotide variant (intron variant)	Not Specified
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	TNFRSF14, TNFRSF14-AS1 +465 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +579 more	Copy number loss	See cases	GPathogenic
Select item 152682	GRCh38/hg38 1p36.33(chr1:904070-932163)x3	LINC02593, LOC107985728 +2 more	Copy number gain	See cases	GBenign
Select item 144791	GRCh38/hg38 1p36.33(chr1:904070-978251)x1	KLHL17, LINC02593 +13 more	Copy number loss	See cases	GBenign
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	LOC129929157, LOC129929158 +248 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LOC129929195, LOC129929196 +565 more	Copy number loss	See cases	GPathogenic
Select item 145558	GRCh38/hg38 1p36.33(chr1:911300-955624)x1	LINC02593, LOC107985728 +5 more	Copy number loss	See cases	GUncertain significance
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	LOC121967052, LOC124903827 +278 more	Copy number gain	See cases	GPathogenic
Select item 57488	GRCh38/hg38 1p36.33(chr1:911300-1084417)x3	AGRN, C1orf159 +38 more	Copy number gain	See cases	GUncertain significance
Select item 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +147 more	Copy number loss	See cases	GPathogenic
Select item 154003	GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	ACAP3, AGRN +136 more	Copy number loss	See cases	GLikely pathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC121967053, LOC121967054 +578 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +278 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +265 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	ACAP3, AGRN +232 more	Copy number loss	See cases	GPathogenic
Select item 151330	GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	AGRN, HES4 +35 more	Copy number gain	See cases	GBenign
Select item 4474871	NR_122045.1(LINC02593):n.544-30C>T	LINC02593	Single nucleotide variant (intron variant)	Not Specified
Select item 4474881	NR_122045.1(LINC02593):n.544-117C>T	LINC02593	Single nucleotide variant (intron variant)	Not Specified
Select item 4474889	NR_122045.1(LINC02593):n.543+135C>A	LINC02593	Single nucleotide variant (intron variant)	Not Specified
Select item 3388928	NM_001385641.1(SAMD11):c.87G>C (p.Pro29=)	LOC107985728, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924157	NM_001385641.1(SAMD11):c.542C>G (p.Ser181Cys)	SAMD11 (S181C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1019397	NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)	SAMD11 (G183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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