ClinVar for Gene (Select 254173) - ClinVar - NCBI

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	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 3329971	NM_001130045.2(TTLL10):c.1441G>A (p.Ala481Thr)	TTLL10 (A481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329969	NM_001130045.2(TTLL10):c.1838C>T (p.Ala613Val)	TTLL10 (A613V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329968	NM_001130045.2(TTLL10):c.1288A>G (p.Met430Val)	TTLL10 (M430V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329967	NM_001130045.2(TTLL10):c.137G>A (p.Arg46His)	TTLL10 (R46H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329966	NM_001130045.2(TTLL10):c.1519G>A (p.Val507Ile)	TTLL10 (V507I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329965	NM_001130045.2(TTLL10):c.1196C>G (p.Ala399Gly)	TTLL10 (A326G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247835	NC_000001.10:g.(?_955553)_(1168648_?)dup	AGRN, B3GALT6 +9 more	Duplication	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 3184538	NM_001130045.2(TTLL10):c.890G>A (p.Arg297Lys)	TTLL10 (R224K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184537	NM_001130045.2(TTLL10):c.885C>G (p.His295Gln)	TTLL10 (H295Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184536	NM_001130045.2(TTLL10):c.841A>G (p.Met281Val)	TTLL10 (M281V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184535	NM_001130045.2(TTLL10):c.781G>A (p.Ala261Thr)	TTLL10 (A261T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184534	NM_001130045.2(TTLL10):c.775G>A (p.Ala259Thr)	TTLL10 (A186T +1 more)	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 3184531	NM_001130045.2(TTLL10):c.451C>T (p.His151Tyr)	TTLL10 (H151Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184530	NM_001130045.2(TTLL10):c.430G>C (p.Gly144Arg)	TTLL10 (G144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184529	NM_001130045.2(TTLL10):c.378T>A (p.Asp126Glu)	TTLL10 (D126E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184528	NM_001130045.2(TTLL10):c.250T>C (p.Cys84Arg)	TTLL10 (C84R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184527	NM_001130045.2(TTLL10):c.2011G>A (p.Ala671Thr)	TTLL10 (A671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184526	NM_001130045.2(TTLL10):c.2001G>T (p.Glu667Asp)	TTLL10 (E667D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184525	NM_001130045.2(TTLL10):c.1999G>A (p.Glu667Lys)	TTLL10 (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184524	NM_001130045.2(TTLL10):c.1934C>T (p.Ser645Leu)	TTLL10 (S645L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184523	NM_001130045.2(TTLL10):c.1919C>T (p.Pro640Leu)	TTLL10 (P640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184522	NM_001130045.2(TTLL10):c.1846C>G (p.Pro616Ala)	TTLL10 (P616A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184521	NM_001130045.2(TTLL10):c.1789G>A (p.Gly597Arg)	TTLL10 (G597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184520	NM_001130045.2(TTLL10):c.1750C>T (p.Arg584Cys)	TTLL10 (R584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184519	NM_001130045.2(TTLL10):c.1702G>A (p.Gly568Ser)	TTLL10 (G568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184518	NM_001130045.2(TTLL10):c.1633C>T (p.Arg545Trp)	TTLL10 (R545W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184516	NM_001130045.2(TTLL10):c.1396C>T (p.Leu466Phe)	TTLL10 (L466F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184515	NM_001130045.2(TTLL10):c.1360G>A (p.Ala454Thr)	TTLL10 (A454T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184514	NM_001130045.2(TTLL10):c.133T>A (p.Ser45Thr)	TTLL10 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184513	NM_001130045.2(TTLL10):c.1240G>A (p.Gly414Ser)	TTLL10 (G341S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184512	NM_001130045.2(TTLL10):c.1150A>G (p.Ile384Val)	TTLL10 (I311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184511	NM_001130045.2(TTLL10):c.1102C>A (p.Pro368Thr)	TTLL10 (P295T +1 more)	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 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 2685786	GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	AGRN, B3GALT6 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +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 2637987	NM_001130045.2(TTLL10):c.1974G>A (p.Pro658=)	TTLL10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620990	NM_001130045.2(TTLL10):c.1765C>A (p.Pro589Thr)	TTLL10 (P589T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2601647	NM_001130045.2(TTLL10):c.220A>G (p.Met74Val)	TTLL10 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591812	NM_001130045.2(TTLL10):c.1078G>A (p.Val360Met)	TTLL10 (V287M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588644	NM_001130045.2(TTLL10):c.565G>A (p.Asp189Asn)	TTLL10 (D189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2559856	NM_001130045.2(TTLL10):c.692C>T (p.Thr231Ile)	TTLL10 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539768	NM_001130045.2(TTLL10):c.1725C>A (p.His575Gln)	TTLL10 (H575Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526742	NM_001130045.2(TTLL10):c.464C>T (p.Pro155Leu)	TTLL10 (P82L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511157	NM_001130045.2(TTLL10):c.743G>T (p.Gly248Val)	TTLL10 (G175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511156	NM_001130045.2(TTLL10):c.742G>C (p.Gly248Arg)	TTLL10 (G248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2487189	NM_001130045.2(TTLL10):c.589G>A (p.Val197Ile)	TTLL10 (V124I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472947	NM_001130045.2(TTLL10):c.886G>A (p.Glu296Lys)	TTLL10 (E223K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461219	NM_001130045.2(TTLL10):c.436G>A (p.Gly146Arg)	TTLL10 (G146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460612	NM_001130045.2(TTLL10):c.1865C>T (p.Pro622Leu)	TTLL10 (P622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455748	NM_001130045.2(TTLL10):c.991G>A (p.Glu331Lys)	TTLL10 (E258K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427661	NC_000001.10:g.(?_980719)_(1168648_?)dup	AGRN, B3GALT6 +9 more	Duplication	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2412552	NM_001130045.2(TTLL10):c.1900G>A (p.Asp634Asn)	TTLL10 (D634N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403054	NM_001130045.2(TTLL10):c.136C>T (p.Arg46Cys)	TTLL10 (R46C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398750	NM_001130045.2(TTLL10):c.1357A>G (p.Lys453Glu)	TTLL10 (K453E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397441	NM_001130045.2(TTLL10):c.1805A>G (p.His602Arg)	TTLL10 (H602R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393326	NM_001130045.2(TTLL10):c.49C>T (p.Arg17Trp)	TTLL10, TTLL10-AS1 (R17W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2392978	NM_001130045.2(TTLL10):c.1619T>C (p.Val540Ala)	TTLL10 (V540A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390952	NM_001130045.2(TTLL10):c.1893C>A (p.Ser631Arg)	TTLL10 (S631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388985	NM_001130045.2(TTLL10):c.868C>T (p.Arg290Cys)	TTLL10 (R217C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376740	NM_001130045.2(TTLL10):c.430G>T (p.Gly144Trp)	TTLL10 (G71W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374163	NM_001130045.2(TTLL10):c.620G>A (p.Arg207Gln)	TTLL10 (R134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373946	NM_001130045.2(TTLL10):c.710G>A (p.Arg237Gln)	TTLL10 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363117	NM_001130045.2(TTLL10):c.169C>T (p.Pro57Ser)	TTLL10 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358244	NM_001130045.2(TTLL10):c.1219G>A (p.Asp407Asn)	TTLL10 (D407N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358135	NM_001130045.2(TTLL10):c.1157G>A (p.Cys386Tyr)	TTLL10 (C313Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353867	NM_001130045.2(TTLL10):c.599G>A (p.Arg200Gln)	TTLL10 (R200Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352891	NM_001130045.2(TTLL10):c.1955C>T (p.Pro652Leu)	TTLL10 (P652L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350750	NM_001130045.2(TTLL10):c.1711G>A (p.Asp571Asn)	TTLL10 (D571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346760	NM_001130045.2(TTLL10):c.274G>A (p.Asp92Asn)	TTLL10 (D92N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339853	NM_001130045.2(TTLL10):c.461G>A (p.Arg154Gln)	TTLL10 (R154Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321822	NM_001130045.2(TTLL10):c.917A>C (p.Glu306Ala)	TTLL10 (E233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306672	NM_001130045.2(TTLL10):c.1973C>T (p.Pro658Leu)	TTLL10 (P658L)	Single nucleotide variant (missense variant)	not specified	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 2300864	NM_001130045.2(TTLL10):c.1933T>C (p.Ser645Pro)	TTLL10 (S645P)	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 2290777	NM_001130045.2(TTLL10):c.1855C>T (p.Pro619Ser)	TTLL10 (P619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288928	NM_001130045.2(TTLL10):c.557G>A (p.Arg186His)	TTLL10 (R186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283156	NM_001130045.2(TTLL10):c.1679G>A (p.Arg560His)	TTLL10 (R560H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276294	NM_001130045.2(TTLL10):c.1476T>G (p.Phe492Leu)	TTLL10 (F492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270122	NM_001130045.2(TTLL10):c.1061G>A (p.Arg354Gln)	TTLL10 (R281Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261644	NM_001130045.2(TTLL10):c.1402A>C (p.Lys468Gln)	TTLL10 (K468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252964	NM_001130045.2(TTLL10):c.1103C>T (p.Pro368Leu)	TTLL10 (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237176	NM_001130045.2(TTLL10):c.1309G>A (p.Val437Met)	TTLL10 (V364M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226453	NM_001130045.2(TTLL10):c.1383G>C (p.Trp461Cys)	TTLL10 (W388C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221579	NM_001130045.2(TTLL10):c.1732G>C (p.Gly578Arg)	TTLL10 (G578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214756	NM_001130045.2(TTLL10):c.1364G>A (p.Arg455Gln)	TTLL10 (R382Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212414	NM_001130045.2(TTLL10):c.1993C>T (p.Arg665Cys)	TTLL10 (R665C)	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

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