42950[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	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 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 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +146 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	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 144721	GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	ACAP3, AGRN +137 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 3126929	NM_001145210.3(ANKRD65):c.1187A>T (p.Glu396Val)	ANKRD65 (E396V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373561	NM_001145210.3(ANKRD65):c.1160G>T (p.Gly387Val)	ANKRD65 (G387V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349709	NM_001145210.3(ANKRD65):c.1160G>C (p.Gly387Ala)	ANKRD65 (G387A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126928	NM_001145210.3(ANKRD65):c.1159G>T (p.Gly387Trp)	ANKRD65 (G387W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481928	NM_001145210.3(ANKRD65):c.1147C>T (p.Pro383Ser)	ANKRD65 (P383S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638008	NM_001145210.3(ANKRD65):c.1142C>T (p.Ala381Val)	ANKRD65 (A381V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2377909	NM_001145210.3(ANKRD65):c.1091G>A (p.Arg364Gln)	ANKRD65 (R364Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209875	NM_001145210.3(ANKRD65):c.1070G>A (p.Arg357Gln)	ANKRD65 (R357Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298058	NM_001145210.3(ANKRD65):c.1069C>G (p.Arg357Gly)	ANKRD65 (R357G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614958	NM_001145210.3(ANKRD65):c.1036G>T (p.Gly346Trp)	ANKRD65 (G346W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638009	NM_001145210.3(ANKRD65):c.963G>C (p.Leu321=)	ANKRD65 (C141S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2524814	NM_001145210.3(ANKRD65):c.955G>A (p.Gly319Ser)	ANKRD65 (G319S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2209697	NM_001145210.3(ANKRD65):c.932G>A (p.Arg311Gln)	ANKRD65 (G131R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298098	NM_001145210.3(ANKRD65):c.931C>T (p.Arg311Trp)	ANKRD65 (R311W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526305	NM_001145210.3(ANKRD65):c.893G>A (p.Arg298Gln)	ANKRD65 (G118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3126938	NM_001145210.3(ANKRD65):c.880G>A (p.Glu294Lys)	ANKRD65 (E294K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3298105	NM_001145210.3(ANKRD65):c.863T>C (p.Leu288Pro)	ANKRD65 (L288P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514931	NM_001145210.3(ANKRD65):c.832G>A (p.Ala278Thr)	ANKRD65 (A278T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520861	NM_001145210.3(ANKRD65):c.815C>A (p.Ala272Glu)	ANKRD65 (A272E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515587	NM_001145210.3(ANKRD65):c.788G>A (p.Gly263Asp)	ANKRD65 (A83T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485522	NM_001145210.3(ANKRD65):c.775G>A (p.Gly259Arg)	ANKRD65 (G259R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2638010	NM_001145210.3(ANKRD65):c.729G>A (p.Ala243=)	ANKRD65	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3126936	NM_001145210.3(ANKRD65):c.718C>A (p.Leu240Met)	ANKRD65 (L240M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473491	NM_001145210.3(ANKRD65):c.677G>C (p.Gly226Ala)	ANKRD65 (G226A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473490	NM_001145210.3(ANKRD65):c.676G>C (p.Gly226Arg)	ANKRD65 (G226R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476165	NM_001145210.3(ANKRD65):c.673C>A (p.Arg225Ser)	ANKRD65 (R225S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298049	NM_001145210.3(ANKRD65):c.659G>A (p.Arg220His)	ANKRD65 (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298077	NM_001145210.3(ANKRD65):c.652G>A (p.Ala218Thr)	ANKRD65 (A218T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126935	NM_001145210.3(ANKRD65):c.631G>T (p.Ala211Ser)	ANKRD65, ANKRD65-AS1 (A211S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2276768	NM_001145210.3(ANKRD65):c.613G>T (p.Gly205Cys)	ANKRD65, ANKRD65-AS1 (G205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126934	NM_001145210.3(ANKRD65):c.539C>T (p.Ala180Val)	ANKRD65, ANKRD65-AS1 (A180V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3126933	NM_001145210.3(ANKRD65):c.509C>T (p.Ala170Val)	ANKRD65, ANKRD65-AS1 (A170V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

<< First< Prev

Page of 3