ClinVar for MedGen (Select 854819) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1395151	NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg)	CENPJ (Q1027R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +3 more	GUncertain significance
Select item 1032801	NM_018451.5(CENPJ):c.1434del (p.Lys479fs)	CENPJ (K479fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 4 +1 more	GPathogenic
Select item 1028112	NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys)	CENPJ (E408K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 883603	NM_018451.5(CENPJ):c.2896G>A (p.Glu966Lys)	CENPJ (E966K)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 883564	NM_018451.5(CENPJ):c.3566C>A (p.Thr1189Asn)	CENPJ, RNF17 (T1189N)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +2 more	GUncertain significance
Select item 883563	NM_018451.5(CENPJ):c.3653C>T (p.Thr1218Met)	CENPJ, RNF17 (T1218M)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GUncertain significance
Select item 883514	NM_018451.5(CENPJ):c.*206A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 883467	NM_018451.5(CENPJ):c.*593A>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 883466	NM_018451.5(CENPJ):c.*623A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 6, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 883465	NM_018451.5(CENPJ):c.*721G>A	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 882958	NM_018451.5(CENPJ):c.221T>C (p.Leu74Pro)	CENPJ (L74P)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GUncertain significance
Select item 882908	NM_018451.5(CENPJ):c.865+8A>G	CENPJ	Single nucleotide variant (intron variant)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 882857	NM_018451.5(CENPJ):c.2342C>T (p.Ser781Leu)	CENPJ (S781L)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 882856	NM_018451.5(CENPJ):c.2344A>G (p.Arg782Gly)	CENPJ (R782G)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 882820	NM_018451.5(CENPJ):c.3004C>A (p.Gln1002Lys)	CENPJ (Q1002K)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 882778	NM_018451.5(CENPJ):c.3654G>A (p.Thr1218=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 882777	NM_018451.5(CENPJ):c.3769C>G (p.Pro1257Ala)	CENPJ, RNF17 (P1257A)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 882776	NM_018451.5(CENPJ):c.3825-11A>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 882726	NM_018451.5(CENPJ):c.*316G>A	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881807	NM_018451.5(CENPJ):c.579A>C (p.Leu193Phe)	CENPJ (L193F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 881756	NM_018451.5(CENPJ):c.1248T>C (p.Asp416=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 881665	NM_018451.5(CENPJ):c.3105C>T (p.Asn1035=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881664	NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys)	CENPJ (W1053C)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881419	NM_018451.5(CENPJ):c.-98G>A	CENPJ	Single nucleotide variant (5 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881363	NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala)	CENPJ (T208A)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GUncertain significance
Select item 881307	NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp)	CENPJ (R535W)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +3 more	GUncertain significance
Select item 881245	NM_018451.5(CENPJ):c.2658A>G (p.Glu886=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881244	NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys)	CENPJ (R931C)	Single nucleotide variant (non-coding transcript variant +1 more)	Seckel syndrome 4 +3 more	GUncertain significance
Select item 881197	NM_018451.5(CENPJ):c.3350A>G (p.Asn1117Ser)	CENPJ, RNF17 (N1117S)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881146	NM_018451.5(CENPJ):c.3965G>A (p.Arg1322Gln)	CENPJ, RNF17 (R1322Q)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881145	NM_018451.5(CPAP):c.4016G>A (p.Ter1339=)	CPAP, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881144	NM_018451.5(CENPJ):c.*26C>T	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 881105	NM_018451.5(CENPJ):c.*556A>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 596130	NM_018451.5(CENPJ):c.1409C>T (p.Pro470Leu)	CENPJ (P470L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 499422	NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala)	CENPJ (T255A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 444313	NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp)	CENPJ (V811D)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 434714	NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser)	CENPJ (P411S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 432654	NM_018451.5(CENPJ):c.2429A>T (p.Asp810Val)	CENPJ (D810V)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GUncertain significance
Select item 432139	NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter)	CENPJ (R958*)	Single nucleotide variant (nonsense +1 more)	Seckel syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 430189	NM_018451.5(CENPJ):c.3309dup (p.Pro1104fs)	CENPJ, RNF17 (P1104fs)	Duplication (frameshift variant +1 more)	Seckel syndrome 4 +1 more	GPathogenic
Select item 417856	NM_018451.5(CENPJ):c.3367-1G>A	CENPJ, RNF17	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 311635	NM_018451.5(CENPJ):c.-148C>T	CENPJ	Single nucleotide variant (non-coding transcript variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311634	NM_018451.5(CENPJ):c.-24A>G	CENPJ	Single nucleotide variant (5 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311633	NM_018451.5(CENPJ):c.195C>T (p.Phe65=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311631	NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro)	CENPJ (L142P)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311630	NM_018451.5(CENPJ):c.504A>G (p.Leu168=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311629	NM_018451.5(CPAP):c.656C>T (p.Pro219Leu)	CPAP (P219L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 311628	NM_018451.5(CPAP):c.659C>T (p.Ser220Leu)	CPAP (S220L)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +3 more	GUncertain significance
Select item 311627	NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu)	CENPJ (P224L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 311626	NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala)	CENPJ (T247A)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311625	NM_018451.5(CENPJ):c.777G>T (p.Ala259=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311623	NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met)	CENPJ (T477M)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 311622	NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu)	CENPJ (P532L)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311621	NM_018451.5(CENPJ):c.1934G>A (p.Arg645His)	CENPJ (R645H)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311620	NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile)	CENPJ (T704I)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311619	NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu)	CENPJ (S717L)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311618	NM_018451.5(CPAP):c.2298T>A (p.Asp766Glu)	CPAP (D766E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311617	NM_018451.5(CPAP):c.2571C>G (p.Ser857Arg)	CPAP (S857R)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 311616	NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu)	CENPJ (K929E)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 311615	NM_018451.5(CENPJ):c.2826-6T>C	CENPJ	Single nucleotide variant (intron variant)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311612	NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311611	NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His)	CENPJ (R1023H)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +2 more	GUncertain significance
Select item 311610	NM_018451.5(CENPJ):c.3618+7T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 311609	NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr)	CENPJ, RNF17 (P1257T)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 311608	NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser)	CENPJ, RNF17 (G1312S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 311607	NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln)	RNF17, CENPJ (E1315Q)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311606	NM_018451.5(CPAP):c.3960C>T (p.Ser1320=)	CPAP, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311604	NM_018451.5(CENPJ):c.*124G>A	RNF17, CENPJ	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311603	NM_018451.5(CENPJ):c.*267G>A	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311602	NM_018451.5(CENPJ):c.*292A>T	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311600	NM_018451.5(CENPJ):c.*303C>A	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311598	NM_018451.5(CENPJ):c.*398A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +2 more	GBenign
Select item 311597	NM_018451.5(CENPJ):c.*404C>T	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 311595	NM_018451.5(CENPJ):c.*464A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311594	NM_018451.5(CENPJ):c.*520A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311593	NM_018451.5(CENPJ):c.*541T>C	CENPJ, RNF17	Single nucleotide variant (non-coding transcript variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311592	NM_018451.5(CENPJ):c.*569A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311591	NM_018451.5(CENPJ):c.*570T>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +2 more	GBenign/Likely benign
Select item 311589	NM_018451.5(CENPJ):c.*639T>C	RNF17, CENPJ	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 6, primary, autosomal recessive +2 more	GBenign
Select item 311586	NM_018451.5(CENPJ):c.*779A>T	RNF17, CENPJ	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311585	NM_018451.5(CENPJ):c.*783C>T	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GUncertain significance
Select item 311584	NM_018451.5(CENPJ):c.*890T>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Seckel syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 280927	NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter)	CENPJ (Q14*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 261032	NM_018451.5(CENPJ):c.3619-12G>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 210670	NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)	CENPJ (E300fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 210667	NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)	RNF17, CENPJ	Duplication (inframe_insertion +1 more)	Seckel syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 210665	NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs)	CENPJ (I1003fs)	Duplication (frameshift variant +1 more)	Seckel syndrome 4	GPathogenic
Select item 210662	NM_018451.5(CENPJ):c.2500C>T (p.Leu834=)	CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 210661	NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)	CENPJ (Q657*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 6, primary, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 210660	NM_018451.5(CENPJ):c.1882del (p.Ala628fs)	CENPJ (A628fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 4	GPathogenic
Select item 210658	NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs)	CENPJ (P617fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 4	GPathogenic
Select item 210657	NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs)	CENPJ (S469fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 4	GPathogenic
Select item 210655	NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter)	CENPJ (K447*)	Single nucleotide variant (nonsense +1 more)	Seckel syndrome 4	GPathogenic
Select item 210654	NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)	CENPJ (Q421H)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 210653	NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp)	CPAP (Y341D)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 197319	NM_018451.5(CPAP):c.646T>C (p.Cys216Arg)	CPAP (C216R)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 194776	NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile)	CENPJ, RNF17 (V1308I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 158219	NM_018451.5(CPAP):c.68A>G (p.Asn23Ser)	CPAP (N23S)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +3 more	GBenign/Likely benign
Select item 158217	NM_018451.5(CPAP):c.61A>T (p.Met21Leu)	CPAP (M21L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive +3 more	GBenign
Select item 158216	NM_018451.5(CENPJ):c.600G>T (p.Gln200His)	CENPJ (Q200H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

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