"Ambry Genetics"[submitter] AND "CIT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2552299	NM_001206999.2(CIT):c.6149C>A (p.Ala2050Glu)	CIT (A2008E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303639	NM_001206999.2(CIT):c.6100C>T (p.Arg2034Trp)	CIT (R2034W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254402	NM_001206999.2(CIT):c.5999G>A (p.Arg2000His)	CIT (R1958H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2389962	NM_001206999.2(CIT):c.5987G>A (p.Ser1996Asn)	CIT (S1996N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145162	NM_001206999.2(CIT):c.5980G>C (p.Glu1994Gln)	CIT (E1952Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344100	NM_001206999.2(CIT):c.5969G>A (p.Ser1990Asn)	CIT (S1948N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620691	NM_001206999.2(CIT):c.5879G>A (p.Arg1960His)	CIT (R1960H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308007	NM_001206999.2(CIT):c.5848A>G (p.Thr1950Ala)	CIT (T1908A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317623	NM_001206999.2(CIT):c.5807G>C (p.Arg1936Thr)	CIT (R1936T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145160	NM_001206999.2(CIT):c.5627A>G (p.Tyr1876Cys)	CIT (Y1834C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612481	NM_001206999.2(CIT):c.5576G>A (p.Arg1859His)	CIT (R1817H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145159	NM_001206999.2(CIT):c.5538C>A (p.Phe1846Leu)	CIT (F1846L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228558	NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)	CIT (R1839* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 791323	NM_001206999.2(CIT):c.5506G>A (p.Ala1836Thr)	CIT (A1794T +1 more)	Single nucleotide variant (missense variant)	CIT-related condition +3 more	GLikely benign
Select item 2352235	NM_001206999.2(CIT):c.5491G>A (p.Val1831Met)	CIT (V1831M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481549	NM_001206999.2(CIT):c.5446C>T (p.Pro1816Ser)	CIT (P1774S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764793	NM_001206999.2(CIT):c.5414-4A>G	CIT	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2515829	NM_001206999.2(CIT):c.5383G>A (p.Glu1795Lys)	CIT (E1753K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216897	NM_001206999.2(CIT):c.5294G>C (p.Cys1765Ser)	CIT (C1723S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756036	NM_001206999.2(CIT):c.5212-6T>C	CIT	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2327121	NM_001206999.2(CIT):c.5165A>G (p.Asn1722Ser)	CIT (N1680S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217353	NM_001206999.2(CIT):c.5152G>A (p.Asp1718Asn)	CIT (D1676N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282120	NM_001206999.2(CIT):c.5035A>G (p.Ile1679Val)	CIT (I1637V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521137	NM_001206999.2(CIT):c.4959A>C (p.Glu1653Asp)	CIT (E1653D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331500	NM_001206999.2(CIT):c.4847C>T (p.Ala1616Val)	CIT (A1574V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337270	NM_001206999.2(CIT):c.4807G>T (p.Val1603Phe)	CIT (V1561F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2206268	NM_001206999.2(CIT):c.4745C>A (p.Thr1582Asn)	CIT (T1582N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383171	NM_001206999.2(CIT):c.4652G>T (p.Gly1551Val)	CIT (G1509V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540541	NM_001206999.2(CIT):c.4496A>G (p.Lys1499Arg)	CIT (K1457R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238324	NM_001206999.2(CIT):c.4468G>A (p.Gly1490Arg)	CIT (G1490R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230119	NM_001206999.2(CIT):c.4451G>A (p.Ser1484Asn)	CIT (S1484N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269226	NM_001206999.2(CIT):c.4426G>C (p.Gly1476Arg)	CIT (G1476R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173062	NM_001206999.2(CIT):c.4405C>T (p.Arg1469Cys)	CIT (R1469C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1700779	NM_001206999.2(CIT):c.4393G>A (p.Glu1465Lys)	CIT (E1423K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3145157	NM_001206999.2(CIT):c.4391C>T (p.Thr1464Ile)	CIT (T1422I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287316	NM_001206999.2(CIT):c.4286G>A (p.Arg1429His)	CIT (R1387H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466348	NM_001206999.2(CIT):c.4178G>A (p.Arg1393Gln)	CIT (R1393Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555239	NM_001206999.2(CIT):c.4173T>G (p.Phe1391Leu)	CIT (F1391L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1320687	NM_001206999.2(CIT):c.4168+5G>A	CIT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2222856	NM_001206999.2(CIT):c.4163C>T (p.Pro1388Leu)	CIT (P1346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145155	NM_001206999.2(CIT):c.4159A>C (p.Thr1387Pro)	CIT (T1387P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617760	NM_001206999.2(CIT):c.4078G>A (p.Ala1360Thr)	CIT (A1360T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374441	NM_001206999.2(CIT):c.4043C>T (p.Thr1348Met)	CIT (T1306M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179190	NM_001206999.2(CIT):c.4022C>T (p.Thr1341Met)	CIT (T1299M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3145154	NM_001206999.2(CIT):c.4021A>G (p.Thr1341Ala)	CIT (T1299A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521138	NM_001206999.2(CIT):c.4012C>T (p.Arg1338Cys)	CIT (R1338C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2392320	NM_001206999.2(CIT):c.4004C>T (p.Ala1335Val)	CIT (A1335V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237312	NM_001206999.2(CIT):c.3919C>G (p.Leu1307Val)	CIT (L1265V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064084	NM_001206999.2(CIT):c.3902A>G (p.Asn1301Ser)	CIT (N1259S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2533895	NM_001206999.2(CIT):c.3893T>G (p.Leu1298Arg)	CIT (L1298R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145153	NM_001206999.2(CIT):c.3856C>T (p.Arg1286Trp)	CIT (R1286W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145152	NM_001206999.2(CIT):c.3853C>G (p.Arg1285Gly)	CIT (R1243G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476115	NM_001206999.2(CIT):c.3787A>G (p.Lys1263Glu)	CIT (K1263E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104919	NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)	CIT (R1136* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 3145150	NM_001206999.2(CIT):c.3353C>T (p.Ala1118Val)	CIT (A1076V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290423	NM_001206999.2(CIT):c.3146G>A (p.Ser1049Asn)	CIT (S1049N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145149	NM_001206999.2(CIT):c.3098T>C (p.Val1033Ala)	CIT (V1033A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482411	NM_001206999.2(CIT):c.3094G>A (p.Glu1032Lys)	CIT (E990K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319793	NM_001206999.2(CIT):c.3030C>G (p.Phe1010Leu)	CIT (F968L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379369	NM_001206999.2(CIT):c.2945G>A (p.Arg982His)	CIT (R940H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302431	NM_001206999.2(CIT):c.2819C>T (p.Ala940Val)	CIT (A898V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293433	NM_001206999.2(CIT):c.2687T>G (p.Leu896Arg)	CIT (L854R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297469	NM_001206999.2(CIT):c.2596G>A (p.Gly866Arg)	CIT (G866R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145147	NM_001206999.2(CIT):c.2429A>C (p.Asn810Thr)	CIT (N768T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512752	NM_001206999.2(CIT):c.2429A>G (p.Asn810Ser)	CIT (N768S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530163	NM_001206999.2(CIT):c.2360T>C (p.Met787Thr)	CIT (M745T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441987	NM_001206999.2(CIT):c.2357A>G (p.Asn786Ser)	CIT (N744S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +1 more	GUncertain significance
Select item 3145146	NM_001206999.2(CIT):c.2356A>G (p.Asn786Asp)	CIT (N744D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522797	NM_001206999.2(CIT):c.2266C>G (p.Leu756Val)	CIT (L756V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171345	NM_001206999.2(CIT):c.2086C>T (p.Arg696Cys)	CIT (R696C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2371283	NM_001206999.2(CIT):c.2036G>A (p.Arg679Gln)	CIT (R679Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145145	NM_001206999.2(CIT):c.1958C>T (p.Thr653Met)	CIT (T653M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569928	NM_001206999.2(CIT):c.1940A>G (p.Lys647Arg)	CIT (K647R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1080236	NM_001206999.2(CIT):c.1926A>C (p.Gln642His)	CIT (Q642H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2004871	NM_001206999.2(CIT):c.1801C>T (p.Arg601Trp)	CIT (R601W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3145143	NM_001206999.2(CIT):c.1631A>G (p.Glu544Gly)	CIT (E544G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216405	NM_001206999.2(CIT):c.1585T>A (p.Ser529Thr)	CIT (S529T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603251	NM_001206999.2(CIT):c.1576A>T (p.Met526Leu)	CIT (M526L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145142	NM_001206999.2(CIT):c.1574G>A (p.Arg525Gln)	CIT (R525Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487945	NM_001206999.2(CIT):c.1402A>T (p.Met468Leu)	CIT (M468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145140	NM_001206999.2(CIT):c.1364G>A (p.Ser455Asn)	CIT (S455N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399887	NM_001206999.2(CIT):c.1304T>C (p.Val435Ala)	CIT (V435A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730328	NM_001206999.2(CIT):c.1296-5C>T	CIT	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2294777	NM_001206999.2(CIT):c.1184C>G (p.Ser395Trp)	CIT (S395W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263187	NM_001206999.2(CIT):c.1151A>G (p.Asp384Gly)	CIT (D384G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347481	NM_001206999.2(CIT):c.1121C>A (p.Pro374His)	CIT (P374H)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +2 more	GUncertain significance
Select item 1305892	NM_001206999.2(CIT):c.1106G>A (p.Arg369His)	CIT (R369H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2519155	NM_001206999.2(CIT):c.1105C>A (p.Arg369Ser)	CIT (R369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494844	NM_001206999.2(CIT):c.1100A>G (p.Asn367Ser)	CIT (N367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399581	NM_001206999.2(CIT):c.1054G>A (p.Glu352Lys)	CIT (E352K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515679	NM_001206999.2(CIT):c.1022T>G (p.Leu341Trp)	CIT (L341W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600215	NM_001206999.2(CIT):c.976G>C (p.Asp326His)	CIT (D326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145163	NM_001206999.2(CIT):c.925G>A (p.Ala309Thr)	CIT (A309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1306503	NM_001206999.2(CIT):c.881A>G (p.Tyr294Cys)	CIT (Y294C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336375	NM_001206999.2(CIT):c.845T>C (p.Leu282Pro)	CIT (L282P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2069351	NM_001206999.2(CIT):c.827G>A (p.Gly276Glu)	CIT (G276E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2609066	NM_001206999.2(CIT):c.796C>T (p.Pro266Ser)	CIT (P266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076497	NM_001206999.2(CIT):c.685G>A (p.Val229Ile)	CIT (V229I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2288206	NM_001206999.2(CIT):c.574C>G (p.Gln192Glu)	CIT (Q192E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1219339	NM_001206999.2(CIT):c.504T>A (p.Asn168Lys)	CIT (N168K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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