26693[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 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	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 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 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 151328	GRCh38/hg38 1p36.33(chr1:1143156-1223303)x1	LOC129929100, MIR200A +15 more	Copy number loss	See cases	GBenign
Select item 2204057	NM_001130045.2(TTLL10):c.20G>A (p.Arg7Gln)	TTLL10, TTLL10-AS1 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293894	NM_001130045.2(TTLL10):c.34C>T (p.Arg12Trp)	TTLL10, TTLL10-AS1 (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614396	NM_001130045.2(TTLL10):c.35G>C (p.Arg12Pro)	TTLL10, TTLL10-AS1 (R12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329972	NM_001130045.2(TTLL10):c.40C>T (p.Pro14Ser)	TTLL10, TTLL10-AS1 (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393326	NM_001130045.2(TTLL10):c.49C>T (p.Arg17Trp)	TTLL10, TTLL10-AS1 (R17W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306054	NM_001130045.2(TTLL10):c.53C>T (p.Thr18Ile)	TTLL10, TTLL10-AS1 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184533	NM_001130045.2(TTLL10):c.56G>A (p.Arg19Gln)	TTLL10, TTLL10-AS1 (R19Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487785	NM_001130045.2(TTLL10):c.71G>T (p.Arg24Met)	TTLL10, TTLL10-AS1 (R24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293283	NM_001130045.2(TTLL10):c.110G>A (p.Arg37Gln)	TTLL10, TTLL10-AS1 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184514	NM_001130045.2(TTLL10):c.133T>A (p.Ser45Thr)	TTLL10 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403054	NM_001130045.2(TTLL10):c.136C>T (p.Arg46Cys)	TTLL10 (R46C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329967	NM_001130045.2(TTLL10):c.137G>A (p.Arg46His)	TTLL10 (R46H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363117	NM_001130045.2(TTLL10):c.169C>T (p.Pro57Ser)	TTLL10 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601647	NM_001130045.2(TTLL10):c.220A>G (p.Met74Val)	TTLL10 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184528	NM_001130045.2(TTLL10):c.250T>C (p.Cys84Arg)	TTLL10 (C84R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346760	NM_001130045.2(TTLL10):c.274G>A (p.Asp92Asn)	TTLL10 (D92N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184529	NM_001130045.2(TTLL10):c.378T>A (p.Asp126Glu)	TTLL10 (D126E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184530	NM_001130045.2(TTLL10):c.430G>C (p.Gly144Arg)	TTLL10 (G144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376740	NM_001130045.2(TTLL10):c.430G>T (p.Gly144Trp)	TTLL10 (G71W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461219	NM_001130045.2(TTLL10):c.436G>A (p.Gly146Arg)	TTLL10 (G146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184531	NM_001130045.2(TTLL10):c.451C>T (p.His151Tyr)	TTLL10 (H151Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339853	NM_001130045.2(TTLL10):c.461G>A (p.Arg154Gln)	TTLL10 (R154Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526742	NM_001130045.2(TTLL10):c.464C>T (p.Pro155Leu)	TTLL10 (P82L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288928	NM_001130045.2(TTLL10):c.557G>A (p.Arg186His)	TTLL10 (R186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588644	NM_001130045.2(TTLL10):c.565G>A (p.Asp189Asn)	TTLL10 (D189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487189	NM_001130045.2(TTLL10):c.589G>A (p.Val197Ile)	TTLL10 (V124I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353867	NM_001130045.2(TTLL10):c.599G>A (p.Arg200Gln)	TTLL10 (R200Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374163	NM_001130045.2(TTLL10):c.620G>A (p.Arg207Gln)	TTLL10 (R134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559856	NM_001130045.2(TTLL10):c.692C>T (p.Thr231Ile)	TTLL10 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373946	NM_001130045.2(TTLL10):c.710G>A (p.Arg237Gln)	TTLL10 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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