ClinVar for Gene (Select 100287898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3463408	NM_001242672.3(TTC34):c.1631T>C (p.Val544Ala)	TTC34 (V544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463407	NM_001242672.3(TTC34):c.2780C>T (p.Ser927Leu)	TTC34 (S927L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463406	NM_001242672.3(TTC34):c.2884C>G (p.His962Asp)	TTC34 (H962D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463404	NM_001242672.3(TTC34):c.1661T>A (p.Leu554Gln)	TTC34 (L554Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463403	NM_001242672.3(TTC34):c.1846G>A (p.Ala616Thr)	TTC34 (A616T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463402	NM_001242672.3(TTC34):c.3092G>A (p.Arg1031His)	TTC34 (R1031H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3463401	NM_001242672.3(TTC34):c.2291G>T (p.Arg764Leu)	TTC34 (R764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463400	NM_001242672.3(TTC34):c.2153T>C (p.Leu718Pro)	TTC34 (L718P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463399	NM_001242672.3(TTC34):c.2116C>A (p.Gln706Lys)	TTC34 (Q706K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463398	NM_001242672.3(TTC34):c.2114G>A (p.Gly705Asp)	TTC34 (G705D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463397	NM_001242672.3(TTC34):c.2482A>T (p.Ile828Phe)	TTC34 (I828F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3463395	NM_001242672.3(TTC34):c.1978C>T (p.Arg660Trp)	TTC34 (R660W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391869	GRCh37/hg19 1p36.32-36.23(chr1:2454930-8142590)x1	ACOT7, ACTRT2 +46 more	Copy number loss	not provided	GPathogenic
Select item 3391839	GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3	ACAP3, ACTRT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 3329890	NM_001242672.3(TTC34):c.1911C>A (p.Asp637Glu)	TTC34 (D637E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329889	NM_001242672.3(TTC34):c.1790C>A (p.Ala597Asp)	TTC34 (A597D)	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 3329887	NM_001242672.3(TTC34):c.2669T>G (p.Leu890Arg)	TTC34 (L890R)	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 3329885	NM_001242672.3(TTC34):c.2954G>T (p.Arg985Leu)	TTC34 (R985L)	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 3329882	NM_001242672.3(TTC34):c.1633G>A (p.Ala545Thr)	TTC34 (A545T)	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 3329880	NM_001242672.3(TTC34):c.2617G>T (p.Ala873Ser)	TTC34 (A873S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329879	NM_001242672.3(TTC34):c.1841A>G (p.Tyr614Cys)	TTC34 (Y614C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
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 3184326	NM_001242672.3(TTC34):c.2320A>T (p.Ile774Phe)	TTC34 (I774F)	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 3184324	NM_001242672.3(TTC34):c.2173G>A (p.Val725Met)	TTC34 (V725M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184323	NM_001242672.3(TTC34):c.1979G>A (p.Arg660Gln)	TTC34 (R660Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184322	NM_001242672.3(TTC34):c.1931G>A (p.Arg644Gln)	TTC34 (R644Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184321	NM_001242672.3(TTC34):c.1924G>A (p.Glu642Lys)	TTC34 (E642K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184320	NM_001242672.3(TTC34):c.1706C>T (p.Ala569Val)	TTC34 (A569V)	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 3184316	NM_001242672.3(TTC34):c.2953C>G (p.Arg985Gly)	TTC34 (R985G)	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 3184314	NM_001242672.3(TTC34):c.2806A>C (p.Ser936Arg)	TTC34 (S936R)	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 3184311	NM_001242672.3(TTC34):c.2683G>A (p.Glu895Lys)	TTC34 (E895K)	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 3184309	NM_001242672.3(TTC34):c.1642G>A (p.Val548Met)	TTC34 (V548M)	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 3184307	NM_001242672.3(TTC34):c.1639G>T (p.Gly547Cys)	TTC34 (G547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685288	GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	ACTRT2, ARHGEF16 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	ACAP3, ACTRT2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
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 2638092	NM_001242672.3(TTC34):c.60G>A (p.Ala20=)	TTC34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638091	NM_001242672.3(TTC34):c.1362C>G (p.Arg454=)	TTC34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638090	NM_001242672.3(TTC34):c.1911C>T (p.Asp637=)	TTC34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613856	NM_001242672.3(TTC34):c.1739A>G (p.Glu580Gly)	TTC34 (E580G)	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 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
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 2520427	NM_001242672.3(TTC34):c.2702G>A (p.Ser901Asn)	TTC34 (S901N)	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 2512404	NM_001242672.3(TTC34):c.2927G>T (p.Arg976Leu)	TTC34 (R976L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512375	NM_001242672.3(TTC34):c.2138A>G (p.Asp713Gly)	TTC34 (D713G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512083	NM_001242672.3(TTC34):c.2191C>T (p.Arg731Trp)	TTC34 (R731W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506583	GRCh37/hg19 1p36.32(chr1:2582760-3177921)x3	ACTRT2, PRDM16 +1 more	Copy number gain	See cases	GLikely benign
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
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 2494626	NM_001242672.3(TTC34):c.2690C>T (p.Ser897Leu)	TTC34 (S897L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489757	NM_001242672.3(TTC34):c.2129C>G (p.Ala710Gly)	TTC34 (A710G)	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 2464304	NM_001242672.3(TTC34):c.1888G>A (p.Ala630Thr)	TTC34 (A630T)	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 2457681	NM_001242672.3(TTC34):c.1736T>C (p.Leu579Pro)	TTC34 (L579P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408252	NM_001242672.3(TTC34):c.1993G>A (p.Gly665Arg)	TTC34 (G665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2393136	NM_001242672.3(TTC34):c.3140C>T (p.Ala1047Val)	TTC34 (A1047V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391960	NM_001242672.3(TTC34):c.2056G>A (p.Ala686Thr)	TTC34 (A686T)	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 2380379	NM_001242672.3(TTC34):c.1558C>G (p.Arg520Gly)	TTC34 (R520G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376224	NM_001242672.3(TTC34):c.1805G>A (p.Arg602Gln)	TTC34 (R602Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2363722	NM_001242672.3(TTC34):c.3176G>A (p.Arg1059His)	TTC34 (R1059H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357558	NM_001242672.3(TTC34):c.2095C>T (p.Arg699Cys)	TTC34 (R699C)	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 2348020	NM_001242672.3(TTC34):c.2813G>T (p.Cys938Phe)	TTC34 (C938F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2309746	NM_001242672.3(TTC34):c.2056G>T (p.Ala686Ser)	TTC34 (A686S)	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 2275753	NM_001242672.3(TTC34):c.2096G>A (p.Arg699His)	TTC34 (R699H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259159	NM_001242672.3(TTC34):c.1697G>A (p.Arg566His)	TTC34 (R566H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250762	NM_001242672.3(TTC34):c.1912G>A (p.Val638Ile)	TTC34 (V638I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2226939	NM_001242672.3(TTC34):c.2155C>T (p.Arg719Trp)	TTC34 (R719W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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