CENPJ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 58235	GRCh38/hg38 13q12.12-12.13(chr13:24363400-24904246)x3	ATP12A, CENPJ +16 more	Copy number gain	See cases	GUncertain significance
Select item 58236	GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3	AMER2, ATP12A +32 more	Copy number gain	See cases	GUncertain significance
Select item 2501591	NC_000013.11:g.24882135T>C	CENPJ, RNF17	Single nucleotide variant	not provided	GLikely benign
Select item 1321687	NC_000013.11:g.24882213_24882214del	CENPJ, RNF17	Deletion	not provided	GLikely benign
Select item 1247996	NC_000013.11:g.24882215TA[3]	CENPJ, RNF17	Microsatellite	not provided	GBenign
Select item 1267198	NC_000013.11:g.24882246A>C	CENPJ, RNF17	Single nucleotide variant	not provided	GBenign
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 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 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 311587	NM_018451.5(CENPJ):c.*743ACTT[5]	CENPJ, RNF17	Microsatellite (3 prime UTR variant +1 more)	Seckel syndrome +1 more	GUncertain significance
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 311588	NM_018451.5(CENPJ):c.*683dup	CENPJ, RNF17	Duplication (3 prime UTR variant +1 more)	Seckel syndrome +2 more	GBenign
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 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 311590	NM_018451.5(CENPJ):c.594_595dup	CENPJ, RNF17	Duplication (3 prime UTR variant +1 more)	Primary Microcephaly, Recessive +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 311596	NM_018451.5(CENPJ):c.*404CT[1]	CENPJ, RNF17	Microsatellite (3 prime UTR variant +1 more)	Seckel syndrome +1 more	GLikely benign
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 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 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 311599	NM_018451.5(CENPJ):c.*305AAG[1]	CENPJ, RNF17	Microsatellite (3 prime UTR variant +1 more)	Seckel syndrome +1 more	GBenign
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 311601	NM_018451.5(CENPJ):c.*302del	RNF17, CENPJ	Deletion (3 prime UTR variant +1 more)	Seckel syndrome +1 more	GBenign
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 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 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 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 1292380	NM_018451.5(CENPJ):c.*108A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 311605	NM_018451.5(CENPJ):c.83_85del	CENPJ, RNF17	Deletion (3 prime UTR variant +1 more)	Seckel syndrome +2 more	GUncertain significance
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 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 1927937	NM_018451.5(CENPJ):c.4008G>A (p.Thr1336=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901695	NM_018451.5(CENPJ):c.4001T>C (p.Met1334Thr)	CENPJ, RNF17 (M1334T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2176916	NM_018451.5(CENPJ):c.3993T>C (p.Asn1331=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1647765	NM_018451.5(CENPJ):c.3987G>A (p.Glu1329=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1434413	NM_018451.5(CENPJ):c.3982A>T (p.Lys1328Ter)	CENPJ, RNF17 (K1328*)	Single nucleotide variant (nonsense +1 more)	not provided	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 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 1347233	NM_018451.5(CENPJ):c.3961G>A (p.Gly1321Ser)	CENPJ, RNF17 (G1321S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1256280	NM_018451.5(CENPJ):c.3948G>A (p.Thr1316=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1363142	NM_018451.5(CENPJ):c.3945_3946dup (p.Thr1316fs)	CENPJ, RNF17 (T1316fs)	Duplication (frameshift variant +1 more)	not provided	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 597881	NM_018451.5(CENPJ):c.3940C>T (p.Gln1314Ter)	CENPJ, RNF17 (Q1314*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 403711	NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)	CENPJ, RNF17 (H1313fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 5	GPathogenic
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 794474	NM_018451.5(CENPJ):c.3933C>T (p.Asn1311=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1497499	NM_018451.5(CENPJ):c.3924A>G (p.Val1308=)	RNF17, CENPJ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2166510	NM_018451.5(CENPJ):c.3895G>A (p.Glu1299Lys)	CENPJ, RNF17 (E1299K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 522642	NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln)	CENPJ, RNF17 (R1298Q)	Single nucleotide variant (missense variant +1 more)	Microcephaly 6, primary, autosomal recessive	GLikely pathogenic
Select item 771465	NM_018451.5(CENPJ):c.3879C>T (p.Ala1293=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982690	NM_018451.5(CENPJ):c.3877G>T (p.Ala1293Ser)	CENPJ, RNF17 (A1293S)	Single nucleotide variant (missense variant +1 more)	not provided	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 2131718	NM_018451.5(CENPJ):c.3862A>G (p.Arg1288Gly)	CENPJ, RNF17 (R1288G)	Single nucleotide variant (missense variant +1 more)	not provided	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 1393112	NM_018451.5(CENPJ):c.3854A>G (p.Asn1285Ser)	CENPJ, RNF17 (N1285S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960374	NM_018451.5(CENPJ):c.3825-12dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 1999655	NM_018451.5(CENPJ):c.3825-11A>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1653612	NM_018451.5(CENPJ):c.3825-12T>A	CENPJ, RNF17	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 1896479	NM_018451.5(CENPJ):c.3825-20_3825-18del	CENPJ, RNF17	Deletion (intron variant)	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 2961166	NM_018451.5(CENPJ):c.3825-20_3825-19del	CENPJ, RNF17	Microsatellite (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 1633789	NM_018451.5(CENPJ):c.3825-20A>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179771	NM_018451.5(CENPJ):c.3825-31del	CENPJ, RNF17	Deletion (intron variant)	not provided	GBenign
Select item 678327	NM_018451.5(CENPJ):c.3825-88C>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680182	NM_018451.5(CENPJ):c.3825-135_3825-134dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 1262403	NM_018451.5(CENPJ):c.3824+80C>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181388	NM_018451.5(CENPJ):c.3824+21C>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2009936	NM_018451.5(CENPJ):c.3824+14_3824+17dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GUncertain significance
Select item 2117262	NM_018451.5(CENPJ):c.3824+9A>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	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 210668	NM_018451.5(CENPJ):c.3809T>C (p.Ile1270Thr)	CENPJ, RNF17 (I1270T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 804717	NM_018451.5(CENPJ):c.3803G>A (p.Gly1268Asp)	CENPJ, RNF17 (G1268D)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity

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