ClinVar for Gene (Select 55835) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 658

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265930	NM_018451.5(CENPJ):c.196A>C (p.Ser66Arg)	CENPJ (S66R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265929	NM_018451.5(CENPJ):c.2018A>G (p.Lys673Arg)	CENPJ (K673R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265928	NM_018451.5(CENPJ):c.922A>G (p.Lys308Glu)	CENPJ (K308E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265927	NM_018451.5(CENPJ):c.2553G>C (p.Leu851Phe)	CENPJ (L851F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265926	NM_018451.5(CENPJ):c.3729A>C (p.Lys1243Asn)	CENPJ, RNF17 (K1243N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265924	NM_018451.5(CENPJ):c.1835G>A (p.Arg612Gln)	CENPJ (R612Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265923	NM_018451.5(CENPJ):c.3737C>G (p.Thr1246Arg)	CENPJ, RNF17 (T1246R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265922	NM_018451.5(CENPJ):c.3020G>A (p.Arg1007Gln)	CENPJ (R1007Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3265921	NM_018451.5(CENPJ):c.3274T>C (p.Tyr1092His)	CENPJ (Y1092H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265920	NM_018451.5(CENPJ):c.3199A>G (p.Lys1067Glu)	CENPJ (K1067E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265919	NM_018451.5(CENPJ):c.1232C>T (p.Pro411Leu)	CENPJ (P411L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253388	NM_018451.5(CENPJ):c.3851_3854dup (p.Asn1285delinsLysTer)	RNF17, CENPJ	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 3238912	NM_018451.5(CENPJ):c.1220C>A (p.Ser407Tyr)	CENPJ (S407Y)	Single nucleotide variant (missense variant +1 more)	Meniere disease	GUncertain significance
Select item 3238911	NM_018451.5(CENPJ):c.3538G>T (p.Glu1180Ter)	CENPJ, RNF17 (E1180*)	Single nucleotide variant (nonsense +1 more)	Meniere disease	GUncertain significance
Select item 3238905	NM_018451.5(CENPJ):c.3539A>G (p.Glu1180Gly)	CENPJ, RNF17 (E1180G)	Single nucleotide variant (missense variant +1 more)	Meniere disease	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3142387	NM_018451.5(CENPJ):c.91T>G (p.Leu31Val)	CENPJ (L31V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142386	NM_018451.5(CENPJ):c.3973G>A (p.Val1325Ile)	CENPJ, RNF17 (V1325I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142385	NM_018451.5(CENPJ):c.3967A>G (p.Ile1323Val)	CENPJ, RNF17 (I1323V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3142384	NM_018451.5(CENPJ):c.3817G>A (p.Val1273Ile)	CENPJ, RNF17 (V1273I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142383	NM_018451.5(CENPJ):c.3728A>G (p.Lys1243Arg)	CENPJ, RNF17 (K1243R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142382	NM_018451.5(CENPJ):c.3527G>A (p.Gly1176Glu)	CENPJ, RNF17 (G1176E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142381	NM_018451.5(CENPJ):c.3346G>A (p.Gly1116Ser)	CENPJ, RNF17 (G1116S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142380	NM_018451.5(CENPJ):c.3215C>A (p.Ala1072Glu)	CENPJ (A1072E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142379	NM_018451.5(CENPJ):c.3202A>G (p.Lys1068Glu)	CENPJ (K1068E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142377	NM_018451.5(CENPJ):c.2689C>T (p.Pro897Ser)	CENPJ (P897S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142376	NM_018451.5(CENPJ):c.2330T>C (p.Val777Ala)	CENPJ (V777A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3142375	NM_018451.5(CENPJ):c.2263G>T (p.Asp755Tyr)	CENPJ (D755Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142373	NM_018451.5(CENPJ):c.1636A>G (p.Met546Val)	CENPJ (M546V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3142372	NM_018451.5(CENPJ):c.1451A>G (p.Gln484Arg)	CENPJ (Q484R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142371	NM_018451.5(CENPJ):c.1301A>G (p.Asp434Gly)	CENPJ (D434G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142369	NM_018451.5(CENPJ):c.1142G>A (p.Gly381Asp)	CENPJ (G381D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065087	NM_018451.5(CENPJ):c.3628T>C (p.Tyr1210His)	CENPJ, RNF17 (Y1210H)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 3057596	NM_018451.5(CENPJ):c.3561C>G (p.Thr1187=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	CENPJ-related disorder	GLikely benign
Select item 3057140	NM_018451.5(CENPJ):c.564T>A (p.Leu188=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	CENPJ-related disorder	GLikely benign
Select item 3038622	NM_018451.5(CENPJ):c.777_781del (p.Ala259_Ser260insTer)	CENPJ	Deletion (frameshift variant +1 more)	CENPJ-related disorder	GLikely benign
Select item 3038030	NM_018451.5(CENPJ):c.*9A>C	RNF17, CENPJ	Single nucleotide variant (3 prime UTR variant +1 more)	CENPJ-related disorder	GUncertain significance
Select item 3035548	NM_018451.5(CENPJ):c.784_787del (p.Asn262fs)	CENPJ (N262fs)	Deletion (frameshift variant +1 more)	CENPJ-related disorder	GLikely benign
Select item 3034444	NM_018451.5(CENPJ):c.2916G>A (p.Lys972=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	CENPJ-related disorder	GLikely benign
Select item 3025438	NM_018451.5(CENPJ):c.1515G>A (p.Glu505=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025077	NM_018451.5(CENPJ):c.16A>G (p.Thr6Ala)	CENPJ (T6A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017231	NM_018451.5(CENPJ):c.2436T>G (p.Val812=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015445	NM_018451.5(CENPJ):c.1890C>G (p.Pro630=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013079	NM_018451.5(CENPJ):c.862A>G (p.Thr288Ala)	CENPJ (T288A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009434	NM_018451.5(CENPJ):c.2746_2747del (p.Glu916fs)	CENPJ (E916fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3000701	NM_018451.5(CENPJ):c.1602C>T (p.Ser534=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000311	NM_018451.5(CENPJ):c.2295C>T (p.Ser765=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990776	NM_018451.5(CENPJ):c.2586A>G (p.Thr862=)	CENPJ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2984985	NM_018451.5(CENPJ):c.3534A>G (p.Arg1178=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983058	NM_018451.5(CENPJ):c.4012C>T (p.Leu1338=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976056	NM_018451.5(CENPJ):c.2844C>T (p.Phe948=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975715	NM_018451.5(CENPJ):c.1911T>C (p.Ser637=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975500	NM_018451.5(CENPJ):c.3825-19T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975355	NM_018451.5(CENPJ):c.3825-20del	CENPJ, RNF17	Deletion (intron variant)	not provided	GLikely benign
Select item 2971676	NM_018451.5(CENPJ):c.2992-18del	CENPJ	Deletion (intron variant)	not provided	GLikely benign
Select item 2967711	NM_018451.5(CENPJ):c.915A>G (p.Ala305=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966568	NM_018451.5(CENPJ):c.974+12G>A	CENPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965120	NM_018451.5(CENPJ):c.2825+18A>G	CENPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963660	NM_018451.5(CENPJ):c.3825-18T>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961166	NM_018451.5(CENPJ):c.3825-20_3825-19del	CENPJ, RNF17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2960374	NM_018451.5(CENPJ):c.3825-12dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 2960316	NM_018451.5(CENPJ):c.3921C>T (p.Thr1307=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958493	NM_018451.5(CENPJ):c.866-17C>G	CENPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920309	NM_018451.5(CENPJ):c.2592G>A (p.Glu864=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2911250	NM_018451.5(CENPJ):c.669C>G (p.Tyr223Ter)	CENPJ (Y223*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2901569	NM_018451.5(CENPJ):c.849C>T (p.Asn283=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896817	NM_018451.5(CENPJ):c.2210A>C (p.Asp737Ala)	CENPJ (D737A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890716	NM_018451.5(CENPJ):c.2283dup (p.Asp762fs)	CENPJ (D762fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2888952	NM_018451.5(CENPJ):c.537C>T (p.Leu179=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859677	NM_018451.5(CENPJ):c.1578T>G (p.Leu526=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859632	NM_018451.5(CENPJ):c.2784T>C (p.Ala928=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854756	NM_018451.5(CENPJ):c.852T>C (p.Arg284=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843599	NM_018451.5(CENPJ):c.3630_3643del (p.Ala1211fs)	CENPJ, RNF17 (A1211fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2842996	NM_018451.5(CENPJ):c.975-12G>T	CENPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822623	NM_018451.5(CENPJ):c.1575A>G (p.Arg525=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818241	NM_018451.5(CENPJ):c.3216+17G>T	CENPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814844	NM_018451.5(CENPJ):c.1378C>T (p.Leu460=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811559	NM_018451.5(CENPJ):c.3217-6C>T	CENPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776677	NM_018451.5(CENPJ):c.3276C>G (p.Tyr1092Ter)	CENPJ (Y1092*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2771805	NM_018451.5(CENPJ):c.963T>A (p.Asn321Lys)	CENPJ (N321K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2737707	NM_018451.5(CENPJ):c.1908C>T (p.Arg636=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727433	NM_018451.5(CENPJ):c.1530C>T (p.Cys510=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726570	NM_018451.5(CENPJ):c.577T>C (p.Leu193=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2688764	NM_018451.5(CENPJ):c.1461C>G (p.Asp487Glu)	CENPJ (D487E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684164	NM_018451.5(CENPJ):c.2140A>G (p.Ile714Val)	CENPJ (I714V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672535	NM_018451.5(CENPJ):c.3564C>T (p.Ile1188=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643699	NM_018451.5(CENPJ):c.3216+1279G>C	CENPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2643698	NM_018451.5(CENPJ):c.3450G>A (p.Gln1150=)	CENPJ, RNF17	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2643697	NM_018451.5(CENPJ):c.3591G>C (p.Val1197=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631254	NM_018451.5(CENPJ):c.2205_2206del (p.Cys735_Asp736delinsTer)	CENPJ	Microsatellite (nonsense +1 more)	CENPJ-related disorder	GLikely pathogenic
Select item 2622150	NM_018451.5(CENPJ):c.1951T>C (p.Cys651Arg)	CENPJ (C651R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617542	NM_018451.5(CENPJ):c.1317A>T (p.Lys439Asn)	CENPJ (K439N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612449	NM_018451.5(CENPJ):c.1169C>A (p.Ser390Tyr)	CENPJ (S390Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606472	NM_018451.5(CENPJ):c.3338G>A (p.Arg1113His)	CENPJ, RNF17 (R1113H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597426	NM_018451.5(CENPJ):c.2228A>G (p.Asp743Gly)	CENPJ (D743G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2589945	NM_018451.5(CENPJ):c.584C>T (p.Pro195Leu)	CENPJ (P195L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556054	NM_018451.5(CENPJ):c.3865G>A (p.Glu1289Lys)	CENPJ, RNF17 (E1289K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538244	NM_018451.5(CENPJ):c.2514A>G (p.Ile838Met)	CENPJ (I838M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523924	NM_018451.5(CENPJ):c.1370C>T (p.Pro457Leu)	CENPJ (P457L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 7