ClinVar for Gene (Select 55125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3490674	NM_032142.4(CEP192):c.2633A>T (p.Asp878Val)	CEP192 (D878V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490673	NM_032142.4(CEP192):c.746C>T (p.Pro249Leu)	CEP192 (P249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490672	NM_032142.4(CEP192):c.383C>G (p.Pro128Arg)	CEP192 (P128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490671	NM_032142.4(CEP192):c.1724G>A (p.Ser575Asn)	CEP192 (S575N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490670	NM_032142.4(CEP192):c.404C>T (p.Ala135Val)	CEP192 (A135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490669	NM_032142.4(CEP192):c.5899C>T (p.Pro1967Ser)	CEP192 (P1967S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490668	NM_032142.4(CEP192):c.3878G>A (p.Gly1293Asp)	CEP192 (G1293D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490667	NM_032142.4(CEP192):c.5542C>G (p.Arg1848Gly)	CEP192 (R1848G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490666	NM_032142.4(CEP192):c.4585A>T (p.Thr1529Ser)	CEP192 (T1529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490665	NM_032142.4(CEP192):c.3023C>T (p.Ala1008Val)	CEP192 (A1008V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490663	NM_032142.4(CEP192):c.475A>G (p.Ile159Val)	CEP192 (I159V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3490662	NM_032142.4(CEP192):c.5884A>T (p.Thr1962Ser)	CEP192 (T1962S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490661	NM_032142.4(CEP192):c.3848G>A (p.Gly1283Asp)	CEP192 (G1283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490660	NM_032142.4(CEP192):c.4817C>T (p.Ser1606Phe)	CEP192 (S1606F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490659	NM_032142.4(CEP192):c.95T>C (p.Leu32Pro)	CEP192 (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490658	NM_032142.4(CEP192):c.6628G>T (p.Gly2210Cys)	CEP192 (G2210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490657	NM_032142.4(CEP192):c.6302T>A (p.Val2101Asp)	CEP192 (V2101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490656	NM_032142.4(CEP192):c.7270G>T (p.Ala2424Ser)	CEP192 (A2424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490655	NM_032142.4(CEP192):c.6040C>T (p.His2014Tyr)	CEP192 (H2014Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490654	NM_032142.4(CEP192):c.2753T>C (p.Leu918Pro)	CEP192 (L918P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490652	NM_032142.4(CEP192):c.6037G>A (p.Glu2013Lys)	CEP192 (E2013K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490651	NM_032142.4(CEP192):c.1732C>T (p.Arg578Cys)	CEP192 (R578C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490650	NM_032142.4(CEP192):c.3319A>G (p.Ile1107Val)	CEP192 (I1107V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3490649	NM_032142.4(CEP192):c.926G>C (p.Ser309Thr)	CEP192 (S309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490648	NM_032142.4(CEP192):c.2084G>A (p.Ser695Asn)	CEP192 (S695N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3490647	NM_032142.4(CEP192):c.7279C>T (p.Arg2427Cys)	CEP192 (R2427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490646	NM_032142.4(CEP192):c.6255C>T (p.Ser2085=)	CEP192	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3490645	NM_032142.4(CEP192):c.10T>C (p.Phe4Leu)	CEP192 (F4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490644	NM_032142.4(CEP192):c.5591G>A (p.Arg1864Gln)	CEP192 (R1864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490643	NM_032142.4(CEP192):c.6454C>A (p.Arg2152Ser)	CEP192 (R2152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490641	NM_032142.4(CEP192):c.2330A>G (p.Asn777Ser)	CEP192 (N777S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3490640	NM_032142.4(CEP192):c.7493A>G (p.Asn2498Ser)	CEP192 (N2498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3490639	NM_032142.4(CEP192):c.6097A>G (p.Thr2033Ala)	CEP192 (T2033A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391861	GRCh37/hg19 18p11.32-11.21(chr18:136227-15062603)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 3338519	NM_032142.4(CEP192):c.4996A>G (p.Arg1666Gly)	CEP192, LOC126862698 (R1666G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266122	NM_032142.4(CEP192):c.3064C>T (p.Pro1022Ser)	CEP192 (P1022S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266121	NM_032142.4(CEP192):c.2627T>C (p.Val876Ala)	CEP192 (V876A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266120	NM_032142.4(CEP192):c.514C>A (p.Pro172Thr)	CEP192 (P172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266119	NM_032142.4(CEP192):c.1199A>G (p.Asn400Ser)	CEP192 (N400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266118	NM_032142.4(CEP192):c.3364T>A (p.Ser1122Thr)	CEP192 (S1122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266117	NM_032142.4(CEP192):c.4574G>A (p.Arg1525Gln)	CEP192 (R1525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266116	NM_032142.4(CEP192):c.5237T>C (p.Val1746Ala)	CEP192 (V1746A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266115	NM_032142.4(CEP192):c.2836A>G (p.Ser946Gly)	CEP192 (S946G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266114	NM_032142.4(CEP192):c.5011C>A (p.Pro1671Thr)	CEP192, LOC126862698 (P1671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266112	NM_032142.4(CEP192):c.6592T>C (p.Ser2198Pro)	CEP192 (S2198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266111	NM_032142.4(CEP192):c.4732A>G (p.Met1578Val)	CEP192 (M1578V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266110	NM_032142.4(CEP192):c.416T>C (p.Leu139Ser)	CEP192 (L139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266109	NM_032142.4(CEP192):c.2750C>A (p.Ser917Tyr)	CEP192 (S917Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266108	NM_032142.4(CEP192):c.1415T>G (p.Val472Gly)	CEP192 (V472G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266107	NM_032142.4(CEP192):c.3845C>G (p.Ala1282Gly)	CEP192 (A1282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266106	NM_032142.4(CEP192):c.3194A>G (p.Asp1065Gly)	CEP192 (D1065G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266105	NM_032142.4(CEP192):c.4123C>T (p.Pro1375Ser)	CEP192 (P1375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266104	NM_032142.4(CEP192):c.5255A>G (p.Lys1752Arg)	CEP192 (K1752R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266102	NM_032142.4(CEP192):c.1247C>T (p.Thr416Met)	CEP192 (T416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266101	NM_032142.4(CEP192):c.4159G>A (p.Gly1387Arg)	CEP192 (G1387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142754	NM_032142.4(CEP192):c.7561G>A (p.Glu2521Lys)	CEP192 (E2521K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142753	NM_032142.4(CEP192):c.7211C>T (p.Thr2404Met)	CEP192 (T2404M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142751	NM_032142.4(CEP192):c.6883G>A (p.Glu2295Lys)	CEP192 (E2295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142750	NM_032142.4(CEP192):c.6805T>C (p.Ser2269Pro)	CEP192 (S2269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142748	NM_032142.4(CEP192):c.6508C>T (p.Pro2170Ser)	CEP192 (P2170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142747	NM_032142.4(CEP192):c.6359C>T (p.Pro2120Leu)	CEP192 (P2120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142746	NM_032142.4(CEP192):c.6265G>C (p.Ala2089Pro)	CEP192 (A2089P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142745	NM_032142.4(CEP192):c.6161A>G (p.Lys2054Arg)	CEP192 (K2054R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142744	NM_032142.4(CEP192):c.6137A>G (p.Gln2046Arg)	CEP192 (Q2046R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142743	NM_032142.4(CEP192):c.575T>G (p.Leu192Arg)	CEP192 (L192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142742	NM_032142.4(CEP192):c.5711T>A (p.Val1904Glu)	CEP192 (V1904E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142741	NM_032142.4(CEP192):c.5546T>C (p.Leu1849Ser)	CEP192 (L1849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142739	NM_032142.4(CEP192):c.5240T>C (p.Ile1747Thr)	CEP192 (I1747T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142738	NM_032142.4(CEP192):c.4984G>C (p.Val1662Leu)	CEP192, LOC126862698 (V1662L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142737	NM_032142.4(CEP192):c.4889C>T (p.Thr1630Met)	CEP192, LOC126862698 (T1630M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142736	NM_032142.4(CEP192):c.4681C>A (p.Pro1561Thr)	CEP192 (P1561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142735	NM_032142.4(CEP192):c.4588G>A (p.Val1530Met)	CEP192 (V1530M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142734	NM_032142.4(CEP192):c.4198A>G (p.Thr1400Ala)	CEP192 (T1400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142733	NM_032142.4(CEP192):c.4162A>T (p.Ile1388Phe)	CEP192 (I1388F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142730	NM_032142.4(CEP192):c.4100C>T (p.Ser1367Leu)	CEP192 (S1367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142729	NM_032142.4(CEP192):c.4000A>C (p.Asn1334His)	CEP192 (N1334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142728	NM_032142.4(CEP192):c.3971G>C (p.Gly1324Ala)	CEP192 (G1324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142727	NM_032142.4(CEP192):c.3946T>A (p.Ser1316Thr)	CEP192 (S1316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142726	NM_032142.4(CEP192):c.3680C>T (p.Pro1227Leu)	CEP192 (P1227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142725	NM_032142.4(CEP192):c.3394C>T (p.Pro1132Ser)	CEP192 (P1132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142724	NM_032142.4(CEP192):c.3269T>G (p.Leu1090Trp)	CEP192 (L1090W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142723	NM_032142.4(CEP192):c.2923C>T (p.Arg975Cys)	CEP192 (R975C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142721	NM_032142.4(CEP192):c.2775A>T (p.Glu925Asp)	CEP192 (E925D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142720	NM_032142.4(CEP192):c.2677A>G (p.Asn893Asp)	CEP192 (N893D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142719	NM_032142.4(CEP192):c.2650A>G (p.Ile884Val)	CEP192 (I884V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142718	NM_032142.4(CEP192):c.2575A>G (p.Arg859Gly)	CEP192 (R859G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142717	NM_032142.4(CEP192):c.2515G>A (p.Glu839Lys)	CEP192 (E839K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142716	NM_032142.4(CEP192):c.2410A>G (p.Ser804Gly)	CEP192 (S804G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142715	NM_032142.4(CEP192):c.2281C>G (p.His761Asp)	CEP192 (H761D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142714	NM_032142.4(CEP192):c.214C>G (p.Pro72Ala)	CEP192 (P72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142713	NM_032142.4(CEP192):c.1660A>G (p.Thr554Ala)	CEP192 (T554A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142712	NM_032142.4(CEP192):c.1646C>T (p.Thr549Met)	CEP192 (T549M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142711	NM_032142.4(CEP192):c.1336A>G (p.Thr446Ala)	CEP192 (T446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142710	NM_032142.4(CEP192):c.1306A>T (p.Ile436Phe)	CEP192 (I436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142709	NM_032142.4(CEP192):c.1124A>G (p.His375Arg)	CEP192 (H375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142708	NM_032142.4(CEP192):c.1069G>A (p.Val357Ile)	CEP192 (V357I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic

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