2782[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929179, LOC129929180 +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 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	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 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 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 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 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 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
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 154682	GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)x3	ATAD3A, CALML6 +84 more	Copy number gain	See cases	GUncertain significance
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 1696697	NM_002074.5(GNB1):c.*1316G>C	GNB1	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1279222	NM_002074.5(GNB1):c.*9+119G>T	GNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644422	NM_002074.5(GNB1):c.1022A>G (p.Ter341=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1326133	NM_002074.5(GNB1):c.1022A>C (p.Ter341Ser)	GNB1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 521025	NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)	GNB1	Deletion (inframe_indel)	Inborn genetic diseases	GPathogenic
Select item 2733819	NM_002074.5(GNB1):c.1009A>C (p.Lys337Gln)	GNB1 (K237Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687407	NM_002074.5(GNB1):c.1007T>A (p.Leu336His)	GNB1 (L236H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 870135	NM_002074.5(GNB1):c.987_988del (p.Gly330fs)	GNB1 (G330fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1637273	NM_002074.5(GNB1):c.984G>A (p.Ala328=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106126	NM_002074.5(GNB1):c.977C>G (p.Ala326Gly)	GNB1 (A326G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104373	NM_002074.5(GNB1):c.977C>A (p.Ala326Asp)	GNB1 (A326D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 2845761	NM_002074.5(GNB1):c.971G>A (p.Gly324Asp)	GNB1 (G224D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971542	NM_002074.5(GNB1):c.970G>A (p.Gly324Ser)	GNB1 (G224S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150496	NM_002074.5(GNB1):c.966C>T (p.Asp322=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155798	NM_002074.5(GNB1):c.957C>T (p.Gly319=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432202	NM_002074.5(GNB1):c.955G>C (p.Gly319Arg)	GNB1 (G219R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1615500	NM_002074.5(GNB1):c.951C>T (p.Cys317=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972098	NM_002074.5(GNB1):c.943G>A (p.Val315Ile)	GNB1 (V215I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298397	NM_002074.5(GNB1):c.942C>T (p.Arg314=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938436	NM_002074.5(GNB1):c.936C>T (p.Asp312=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978644	NM_002074.5(GNB1):c.930G>T (p.Gly310=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001437	NM_002074.5(GNB1):c.925G>A (p.Ala309Thr)	GNB1 (A309T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376302	NM_002074.5(GNB1):c.925G>T (p.Ala309Ser)	GNB1 (A209S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943226	NM_002074.5(GNB1):c.921C>T (p.Val307=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1315579	NM_002074.5(GNB1):c.917-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1200272	NM_002074.5(GNB1):c.917-2A>G	GNB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1940170	NM_002074.5(GNB1):c.917-5C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569283	NM_002074.5(GNB1):c.917-8_917-7delinsTT	GNB1	Indel (intron variant)	not provided	GLikely benign
Select item 1530121	NM_002074.5(GNB1):c.917-9T>C	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990153	NM_002074.5(GNB1):c.917-14T>C	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543690	NM_002074.5(GNB1):c.917-17C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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