26914[HGNC] - 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	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 541215	NC_000001.11:g.(?_1020153)_(1313808_?)del	ACAP3, AGRN +68 more	Deletion	Congenital myasthenic syndrome 8	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 3149870	NM_153339.3(PUSL1):c.14C>A (p.Pro5Gln)	PUSL1 (P5Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311339	NM_153339.3(PUSL1):c.89C>T (p.Ala30Val)	LOC129929109, PUSL1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566329	NM_153339.3(PUSL1):c.106C>A (p.Arg36Ser)	PUSL1 (R36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319041	NM_153339.3(PUSL1):c.106C>T (p.Arg36Cys)	PUSL1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455574	NM_153339.3(PUSL1):c.118G>A (p.Val40Ile)	PUSL1 (V40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399534	NM_153339.3(PUSL1):c.169G>A (p.Val57Ile)	LOC129929111, PUSL1 (V57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149871	NM_153339.3(PUSL1):c.184T>A (p.Ser62Thr)	LOC129929111, PUSL1 (S62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322102	NM_153339.3(PUSL1):c.189C>A (p.Ser63Arg)	LOC129929111, PUSL1 (S63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604254	NM_153339.3(PUSL1):c.211G>C (p.Ala71Pro)	LOC129929111, PUSL1 (A71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620978	NM_153339.3(PUSL1):c.232C>G (p.Leu78Val)	LOC129929111, PUSL1 (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149872	NM_153339.3(PUSL1):c.271C>T (p.Pro91Ser)	LOC129929111, PUSL1 (P91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517975	NM_153339.3(PUSL1):c.272C>G (p.Pro91Arg)	LOC129929111, PUSL1 (P91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538290	NM_153339.3(PUSL1):c.386C>G (p.Thr129Ser)	PUSL1 (T129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149873	NM_153339.3(PUSL1):c.404C>T (p.Ala135Val)	PUSL1 (A135V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216925	NM_153339.3(PUSL1):c.421C>T (p.Arg141Cys)	PUSL1 (R141C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311748	NM_153339.3(PUSL1):c.434C>T (p.Pro145Leu)	PUSL1 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619748	NM_153339.3(PUSL1):c.445C>T (p.Arg149Cys)	PUSL1 (R149C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558222	NM_153339.3(PUSL1):c.446G>A (p.Arg149His)	PUSL1 (R149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488780	NM_153339.3(PUSL1):c.450C>G (p.Asn150Lys)	PUSL1 (N150K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311751	NM_153339.3(PUSL1):c.463C>G (p.Leu155Val)	PUSL1 (L155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149874	NM_153339.3(PUSL1):c.463C>T (p.Leu155Phe)	PUSL1 (L155F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374817	NM_153339.3(PUSL1):c.472G>T (p.Asp158Tyr)	PUSL1 (D158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552496	NM_153339.3(PUSL1):c.484A>G (p.Met162Val)	PUSL1 (M162V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234696	NM_153339.3(PUSL1):c.619C>T (p.Pro207Ser)	PUSL1 (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300762	NM_153339.3(PUSL1):c.671T>C (p.Phe224Ser)	PUSL1 (F224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307579	NM_153339.3(PUSL1):c.673G>A (p.Glu225Lys)	PUSL1 (E225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463955	NM_153339.3(PUSL1):c.677G>A (p.Ser226Asn)	PUSL1 (S226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311749	NM_153339.3(PUSL1):c.686T>G (p.Phe229Cys)	PUSL1 (F229C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330537	NM_153339.3(PUSL1):c.693T>G (p.Tyr231Ter)	PUSL1 (Y231*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3149876	NM_153339.3(PUSL1):c.767C>T (p.Thr256Met)	PUSL1 (T279M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306043	NM_153339.3(PUSL1):c.777G>T (p.Glu259Asp)	PUSL1 (E259D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225205	NM_153339.3(PUSL1):c.826G>A (p.Gly276Ser)	PUSL1 (G276S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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