"clinvar_dbvar"[Filter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145208	GRCh37/hg19 1q21.1(chr1:143134063-143284670)x3		Copy number gain	See cases	GBenign
Select item 151336	GRCh37/hg19 1p36.11(chr1:26930197-26968251)x1	LOC129929833, LOC129929834 +1 more	Copy number loss	See cases	GLikely benign
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 146981	GRCh38/hg38 1p36.33(chr1:629055-714368)x1	LOC121967041, MIR12136 +1 more	Copy number loss	See cases	GBenign
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 145395	GRCh38/hg38 1p36.33(chr1:844353-911241)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
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 147022	GRCh38/hg38 1p36.33(chr1:859245-911327)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
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 152682	GRCh38/hg38 1p36.33(chr1:904070-932163)x3	LINC02593, LOC107985728 +2 more	Copy number gain	See cases	GBenign
Select item 144791	GRCh38/hg38 1p36.33(chr1:904070-978251)x1	KLHL17, LINC02593 +13 more	Copy number loss	See cases	GBenign
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 145558	GRCh38/hg38 1p36.33(chr1:911300-955624)x1	LINC02593, LOC107985728 +5 more	Copy number loss	See cases	GUncertain significance
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 57488	GRCh38/hg38 1p36.33(chr1:911300-1084417)x3	LINC02593, LOC100288175 +38 more	Copy number gain	See cases	GUncertain significance
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 151330	GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	AGRN, HES4 +35 more	Copy number gain	See cases	GBenign
Select item 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
Select item 1484997	NM_001385641.1(SAMD11):c.1195_1195+96dup	SAMD11	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1465721	NM_001385641.1(SAMD11):c.1196-639_1205del	SAMD11	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 1346919	NM_001385641.1(SAMD11):c.1727_1790del (p.Gln576fs)	SAMD11 (Q413fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 151320	GRCh38/hg38 1p36.33(chr1:955565-1072906)x3	AGRN, HES4 +29 more	Copy number gain	See cases	GBenign
Select item 1166120	NM_198317.3(KLHL17):c.1700+14_1700+78del	KLHL17	Deletion (splice donor variant)	not provided	GBenign
Select item 151325	GRCh38/hg38 1p36.33(chr1:978251-1072906)x3	AGRN, HES4 +22 more	Copy number gain	See cases	GBenign
Select item 151327	GRCh38/hg38 1p36.33(chr1:996104-1072906)x3	AGRN, HES4 +20 more	Copy number gain	See cases	GBenign
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 145206	GRCh38/hg38 1p36.33(chr1:1029317-1072906)x3	AGRN, LOC100288175 +10 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145205	GRCh38/hg38 1p36.33(chr1:1029317-1072906)x4	AGRN, LOC100288175 +10 more	Copy number gain	See cases	GBenign
Select item 2068495	NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGG	AGRN	Insertion (splice donor variant)	Congenital myasthenic syndrome 8	GUncertain significance
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 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 208189	NM_001330311.2(DVL1):c.1507+1_1508-1del	DVL1	Deletion (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 156721	Single allele	ATAD3B, ATAD3C +4 more	Deletion	Large for gestational age +1 more	Gnot provided
Select item 1213715	NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del	ATAD3A, ATAD3B +4 more	Deletion	Harel-Yoon syndrome	GLikely pathogenic
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 1077177	NM_001170535.3(ATAD3A):c.282+484_444+231del	ATAD3A	Deletion (splice acceptor variant +1 more)	Harel-Yoon syndrome	GPathogenic
Select item 156723	NM_001110781.2(SLC35E2B):c.-40384_-148+4347del	SLC35E2A, SLC35E2B +4 more	Deletion	Large for gestational age	Gnot provided
Select item 156724	NM_182838.2(SLC35E2):c.733-162_*35907del	CDK11A, LOC129929146 +1 more	Deletion	Normal pregnancy	Gnot provided
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance

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