11912[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 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 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 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 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 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 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 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 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 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 787525	NM_003820.4(TNFRSF14):c.9T>C (p.Pro3=)	TNFRSF14, TNFRSF14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3180244	NM_003820.4(TNFRSF14):c.31C>T (p.Pro11Ser)	TNFRSF14, TNFRSF14-AS1 (P11S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3257857	NM_003820.4(TNFRSF14):c.36G>A (p.Trp12Ter)	TNFRSF14, TNFRSF14-AS1 (W12*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3180245	NM_003820.4(TNFRSF14):c.37A>G (p.Arg13Gly)	TNFRSF14, TNFRSF14-AS1 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135349	NM_003820.4(TNFRSF14):c.50A>G (p.Lys17Arg)	TNFRSF14, TNFRSF14-AS1 (K17R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2282789	NM_003820.4(TNFRSF14):c.70G>A (p.Val24Met)	TNFRSF14 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180242	NM_003820.4(TNFRSF14):c.132G>C (p.Glu44Asp)	TNFRSF14 (E44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623122	NM_003820.4(TNFRSF14):c.172A>C (p.Ser58Arg)	TNFRSF14 (S58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257919	NM_003820.4(TNFRSF14):c.236_239del (p.Pro79fs)	TNFRSF14 (P79fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 133394	NM_003820.4(TNFRSF14):c.304+545C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133395	NM_003820.4(TNFRSF14):c.304+606C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133396	NM_003820.4(TNFRSF14):c.304+624C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133397	NM_003820.4(TNFRSF14):c.304+642C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133398	NM_003820.4(TNFRSF14):c.305-654A>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133399	NM_003820.4(TNFRSF14):c.305-653T>C	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133400	NM_003820.4(TNFRSF14):c.305-476C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133401	NM_003820.4(TNFRSF14):c.305-462G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133402	NM_003820.4(TNFRSF14):c.305-401G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133403	NM_003820.4(TNFRSF14):c.305-397T>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133404	NM_003820.4(TNFRSF14):c.305-364C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133405	NM_003820.4(TNFRSF14):c.305-328C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133406	NM_003820.4(TNFRSF14):c.305-320C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133407	NM_003820.4(TNFRSF14):c.305-308C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133408	NM_003820.4(TNFRSF14):c.305-249C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133409	NM_003820.4(TNFRSF14):c.305-201G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133411	NM_003820.4(TNFRSF14):c.305-191C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133410	NM_003820.4(TNFRSF14):c.305-191C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133412	NM_003820.4(TNFRSF14):c.305-171G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133413	NM_003820.4(TNFRSF14):c.305-98G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133415	NM_003820.4(TNFRSF14):c.305-59_305-57delinsACT	TNFRSF14	Indel (intron variant)	not specified	Gnot provided
Select item 133414	NM_003820.4(TNFRSF14):c.305-57C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 2488654	NM_003820.4(TNFRSF14):c.316C>T (p.Arg106Cys)	TNFRSF14 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482933	NM_003820.4(TNFRSF14):c.343G>C (p.Glu115Gln)	TNFRSF14 (E115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135350	NM_003820.4(TNFRSF14):c.348C>T (p.Asn116=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135353	NM_003820.4(TNFRSF14):c.349G>A (p.Ala117Thr)	TNFRSF14 (A117T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2509319	NM_003820.4(TNFRSF14):c.385G>A (p.Val129Ile)	TNFRSF14 (V129I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 135351	NM_003820.4(TNFRSF14):c.405C>T (p.Cys135=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 3327498	NM_003820.4(TNFRSF14):c.406G>A (p.Ala136Thr)	TNFRSF14 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135352	NM_003820.4(TNFRSF14):c.408C>T (p.Ala136=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 2512736	NM_003820.4(TNFRSF14):c.418G>A (p.Ala140Thr)	TNFRSF14 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558716	NM_003820.4(TNFRSF14):c.463A>G (p.Thr155Ala)	TNFRSF14 (T155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327502	NM_003820.4(TNFRSF14):c.482T>G (p.Leu161Arg)	TNFRSF14 (L161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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