34297[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 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 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 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 144793	GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3	LOC100996583, LOC121967050 +7 more	Copy number gain	See cases	GBenign
Select item 2405923	NM_001242672.3(TTC34):c.3205C>T (p.Arg1069Trp)	TTC34 (R1069W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363722	NM_001242672.3(TTC34):c.3176G>A (p.Arg1059His)	TTC34 (R1059H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329886	NM_001242672.3(TTC34):c.3175C>T (p.Arg1059Cys)	TTC34 (R1059C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393136	NM_001242672.3(TTC34):c.3140C>T (p.Ala1047Val)	TTC34 (A1047V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184318	NM_001242672.3(TTC34):c.3081G>C (p.Met1027Ile)	TTC34 (M1027I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184317	NM_001242672.3(TTC34):c.3077G>A (p.Arg1026His)	TTC34 (R1026H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306644	NM_001242672.3(TTC34):c.3064G>T (p.Ala1022Ser)	TTC34 (A1022S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463834	NM_001242672.3(TTC34):c.3048C>G (p.Cys1016Trp)	TTC34 (C1016W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329885	NM_001242672.3(TTC34):c.2954G>T (p.Arg985Leu)	TTC34 (R985L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184316	NM_001242672.3(TTC34):c.2953C>G (p.Arg985Gly)	TTC34 (R985G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605883	NM_001242672.3(TTC34):c.2930C>T (p.Ala977Val)	TTC34 (A977V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512404	NM_001242672.3(TTC34):c.2927G>T (p.Arg976Leu)	TTC34 (R976L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241172	NM_001242672.3(TTC34):c.2927G>A (p.Arg976Gln)	TTC34 (R976Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347895	NM_001242672.3(TTC34):c.2926C>T (p.Arg976Trp)	TTC34 (R976W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184315	NM_001242672.3(TTC34):c.2863C>T (p.Arg955Trp)	TTC34 (R955W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329883	NM_001242672.3(TTC34):c.2827C>T (p.Arg943Trp)	TTC34 (R943W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348020	NM_001242672.3(TTC34):c.2813G>T (p.Cys938Phe)	TTC34 (C938F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184314	NM_001242672.3(TTC34):c.2806A>C (p.Ser936Arg)	TTC34 (S936R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329881	NM_001242672.3(TTC34):c.2731G>A (p.Gly911Ser)	TTC34 (G911S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364470	NM_001242672.3(TTC34):c.2717C>T (p.Ala906Val)	TTC34 (A906V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184313	NM_001242672.3(TTC34):c.2713G>A (p.Ala905Thr)	TTC34 (A905T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520427	NM_001242672.3(TTC34):c.2702G>A (p.Ser901Asn)	TTC34 (S901N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386419	NM_001242672.3(TTC34):c.2696G>A (p.Arg899Gln)	TTC34 (R899Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494626	NM_001242672.3(TTC34):c.2690C>T (p.Ser897Leu)	TTC34 (S897L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184311	NM_001242672.3(TTC34):c.2683G>A (p.Glu895Lys)	TTC34 (E895K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329887	NM_001242672.3(TTC34):c.2669T>G (p.Leu890Arg)	TTC34 (L890R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184310	NM_001242672.3(TTC34):c.2620A>G (p.Arg874Gly)	TTC34 (R874G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329880	NM_001242672.3(TTC34):c.2617G>T (p.Ala873Ser)	TTC34 (A873S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184308	NM_001242672.3(TTC34):c.2572C>T (p.Arg858Trp)	TTC34 (R858W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329888	NM_001242672.3(TTC34):c.2548C>T (p.Pro850Ser)	TTC34 (P850S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184329	NM_001242672.3(TTC34):c.2513C>G (p.Ala838Gly)	TTC34 (A838G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184328	NM_001242672.3(TTC34):c.2506G>C (p.Glu836Gln)	TTC34 (E836Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184327	NM_001242672.3(TTC34):c.2450G>A (p.Gly817Glu)	TTC34 (G817E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515156	NM_001242672.3(TTC34):c.2443G>C (p.Asp815His)	TTC34 (D815H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525236	NM_001242672.3(TTC34):c.2440A>C (p.Ile814Leu)	TTC34 (I814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184326	NM_001242672.3(TTC34):c.2320A>T (p.Ile774Phe)	TTC34 (I774F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350749	NM_001242672.3(TTC34):c.2291G>A (p.Arg764His)	TTC34 (R764H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184325	NM_001242672.3(TTC34):c.2290C>T (p.Arg764Cys)	TTC34 (R764C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215383	NM_001242672.3(TTC34):c.2276T>C (p.Val759Ala)	TTC34 (V759A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471308	NM_001242672.3(TTC34):c.2263G>C (p.Gly755Arg)	TTC34 (G755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144802	GRCh38/hg38 1p36.32(chr1:2651321-2701929)x1	LOC121967051, TTC34	Copy number loss	See cases	GBenign
Select item 144800	GRCh38/hg38 1p36.32(chr1:2651321-2701929)x3	LOC121967051, TTC34	Copy number gain	See cases	GBenign
Select item 144818	GRCh38/hg38 1p36.32(chr1:2659405-2673815)x4	TTC34	Copy number gain	See cases	GBenign
Select item 144817	GRCh38/hg38 1p36.32(chr1:2659405-2673815)x3	TTC34	Copy number gain	See cases	GBenign

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