5192[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 933

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 876385	NM_002617.4(PEX10):c.*951G>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 876386	NM_002617.4(PEX10):c.*905A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296252	NM_002617.4(PEX10):c.*854G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296253	NM_002617.4(PEX10):c.*838C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296254	NM_002617.4(PEX10):c.*835C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874434	NM_002617.4(PEX10):c.*824G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296255	NM_002617.4(PEX10):c.*798C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296256	NM_002617.4(PEX10):c.*782C>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296257	NM_002617.4(PEX10):c.*744dup	PEX10, RER1	Duplication (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 296258	NM_002617.4(PEX10):c.*732G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296259	NM_002617.4(PEX10):c.*688G>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875341	NM_002617.4(PEX10):c.*686C>G	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875342	NM_002617.4(PEX10):c.*676C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely benign
Select item 875343	NM_002617.4(PEX10):c.*643C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296260	NM_002617.4(PEX10):c.*627C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875344	NM_002617.4(PEX10):c.*595G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GBenign/Likely benign
Select item 296261	NM_002617.4(PEX10):c.*594C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296262	NM_002617.4(PEX10):c.*499G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875345	NM_002617.4(PEX10):c.*445G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296263	NM_002617.4(PEX10):c.*420G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 296264	NM_002617.4(PEX10):c.*410G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875398	NM_002617.4(PEX10):c.*401A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296265	NM_002617.4(PEX10):c.*352G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GBenign
Select item 296266	NM_002617.4(PEX10):c.*310G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296267	NM_002617.4(PEX10):c.*304C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875399	NM_002617.4(PEX10):c.*175T>C	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296268	NM_002617.4(PEX10):c.*173G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1201303	NM_002617.4(PEX10):c.*102TC[1]	PEX10	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 296269	NM_002617.4(PEX10):c.*91A>G	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296270	NM_002617.4(PEX10):c.*16G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 262787	NM_002617.4(PEX10):c.*11G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 296271	NM_002617.4(PEX10):c.*10C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 500892	NM_002617.4(PEX10):c.*7G>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2434652	NM_002617.4(PEX10):c.*3C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 556763	NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 1651066	NM_002617.4(PEX10):c.980G>A (p.Ter327=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 552841	NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance

<< First< Prev

Page of 10