ClinVar for Gene (Select 100506376) - ClinVar

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

Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
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 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 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 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 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 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 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 541215	NC_000001.11:g.(?_1020153)_(1313808_?)del	ACAP3, AGRN +68 more	Deletion	Congenital myasthenic syndrome 8	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 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +146 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 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 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 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 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 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	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 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 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 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 151328	GRCh38/hg38 1p36.33(chr1:1143156-1223303)x1	LOC129929100, MIR200A +15 more	Copy number loss	See cases	GBenign
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 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 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 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 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 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 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 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 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 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
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 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 144721	GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	ACAP3, AGRN +137 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 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 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 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	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 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 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 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 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 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 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 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	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 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 79