Related gene-specific medical variations for Gene (Select 55835) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3038030	NM_018451.5(CENPJ):c.*9A>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	CENPJ-related disorder	GUncertain significance
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 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 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 2843599	NM_018451.5(CENPJ):c.3630_3643del (p.Ala1211fs)	CENPJ, RNF17 (A1211fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 2643698	NM_018451.5(CENPJ):c.3450G>A (p.Gln1150=)	CENPJ, RNF17	Single nucleotide variant (synonymous 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 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 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 2439898	NM_018451.5(CENPJ):c.745C>G (p.His249Asp)	CENPJ (H249D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438978	NM_018451.5(CENPJ):c.3302-1G>T	CENPJ, RNF17	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2421045	NM_018451.5(CENPJ):c.3769C>T (p.Pro1257Ser)	CENPJ, RNF17 (P1257S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2338153	NM_018451.5(CENPJ):c.3512T>C (p.Ile1171Thr)	CENPJ, RNF17 (I1171T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220710	NM_018451.5(CENPJ):c.3589G>A (p.Val1197Met)	CENPJ, RNF17 (V1197M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2190858	NM_018451.5(CENPJ):c.3524A>G (p.Asn1175Ser)	CENPJ, RNF17 (N1175S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2185634	NM_018451.5(CENPJ):c.3785A>G (p.Glu1262Gly)	CENPJ, RNF17 (E1262G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178868	NM_018451.5(CENPJ):c.3777A>C (p.Gly1259=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177994	NM_018451.5(CENPJ):c.3355G>A (p.Asp1119Asn)	CENPJ, RNF17 (D1119N)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 2117262	NM_018451.5(CENPJ):c.3824+9A>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038381	NM_018451.5(CENPJ):c.3332C>T (p.Pro1111Leu)	CENPJ, RNF17 (P1111L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2009936	NM_018451.5(CENPJ):c.3824+14_3824+17dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GUncertain significance
Select item 2008359	NM_018451.5(CENPJ):c.3362G>C (p.Gly1121Ala)	CENPJ, RNF17 (G1121A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1999655	NM_018451.5(CENPJ):c.3825-11A>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	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 1975927	NM_018451.5(CENPJ):c.3673del (p.Glu1225fs)	CENPJ, RNF17 (E1225fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1958618	NM_018451.5(CENPJ):c.3703+18C>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954296	NM_018451.5(CENPJ):c.3657A>G (p.Thr1219=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1945840	NM_018451.5(CENPJ):c.3477+16T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	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 1925285	NM_018451.5(CENPJ):c.3413C>T (p.Pro1138Leu)	CENPJ, RNF17 (P1138L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1918287	NM_018451.5(CENPJ):c.568+7T>G	CENPJ, LOC126861710	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1913385	NM_018451.5(CENPJ):c.3653C>A (p.Thr1218Lys)	CENPJ, RNF17 (T1218K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907891	NM_018451.5(CENPJ):c.3478-18C>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905562	NM_018451.5(CENPJ):c.3619-14G>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901695	NM_018451.5(CENPJ):c.4001T>C (p.Met1334Thr)	CENPJ, RNF17 (M1334T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1896479	NM_018451.5(CENPJ):c.3825-20_3825-18del	CENPJ, RNF17	Deletion (intron variant)	not provided	GLikely benign
Select item 1804200	NM_018451.5(CENPJ):c.3505C>T (p.Arg1169Cys)	CENPJ, RNF17 (R1169C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676662	NM_018451.5(CENPJ):c.2863G>T (p.Glu955Ter)	CENPJ (E955*)	Single nucleotide variant	Microcephaly 6, primary, autosomal recessive	GLikely pathogenic
Select item 1653612	NM_018451.5(CENPJ):c.3825-12T>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	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 1637828	NM_018451.5(CENPJ):c.3704-14_3704-10del	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 1625316	NM_018451.5(CENPJ):c.3704-10T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576201	NM_018451.5(CENPJ):c.3495G>A (p.Lys1165=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569037	NM_018451.5(CENPJ):c.3543G>A (p.Val1181=)	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=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1456229	NM_018451.5(CENPJ):c.3313C>T (p.Arg1105Ter)	CENPJ, RNF17 (R1105*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1399730	NM_018451.5(CENPJ):c.3520C>A (p.Pro1174Thr)	CENPJ, RNF17 (P1174T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393112	NM_018451.5(CENPJ):c.3854A>G (p.Asn1285Ser)	CENPJ, RNF17 (N1285S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1360428	NM_018451.5(CENPJ):c.3564C>G (p.Ile1188Met)	CENPJ, RNF17 (I1188M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355246	NM_018451.5(CENPJ):c.3539_3542del (p.Glu1180fs)	CENPJ, RNF17 (E1180fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1347233	NM_018451.5(CENPJ):c.3961G>A (p.Gly1321Ser)	CENPJ, RNF17 (G1321S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1322056	NM_018451.5(CENPJ):c.931del (p.Gln311fs)	CENPJ (Q311fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1320988	NM_018451.5(CENPJ):c.3602T>A (p.Met1201Lys)	CENPJ, RNF17 (M1201K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1318864	NM_018451.5(CENPJ):c.3682C>G (p.His1228Asp)	CENPJ, RNF17 (H1228D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1317305	NM_018451.5(CENPJ):c.3641A>G (p.Gln1214Arg)	CENPJ, RNF17 (Q1214R)	Single nucleotide variant (missense variant +1 more)	not provided	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 1270614	NM_018451.5(CENPJ):c.3367-42_3367-39del	CENPJ, RNF17	Deletion (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 1259583	NM_018451.5(CENPJ):c.568+227dup	CENPJ, LOC126861710	Duplication (intron variant)	not provided	GBenign
Select item 1256280	NM_018451.5(CENPJ):c.3948G>A (p.Thr1316=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1254029	NM_018451.5(CENPJ):c.3477+334T>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246812	NM_018451.5(CENPJ):c.3366+28_3366+29dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 1237047	NM_018451.5(CENPJ):c.3302-140_3302-139dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 1213070	NM_018451.5(CENPJ):c.3477+135G>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193386	NM_018451.5(CENPJ):c.568+73A>G	CENPJ, LOC126861710	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192932	NM_018451.5(CENPJ):c.3367-25T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190628	NM_018451.5(CENPJ):c.3478-270T>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181388	NM_018451.5(CENPJ):c.3824+21C>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179771	NM_018451.5(CENPJ):c.3825-31del	CENPJ, RNF17	Deletion (intron variant)	not provided	GBenign
Select item 1177988	NM_018451.5(CENPJ):c.3703+28_3703+31dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 1067301	NM_018451.5(CENPJ):c.3477+1G>A	CENPJ, RNF17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1028113	NM_018451.5(CENPJ):c.3737C>T (p.Thr1246Met)	CENPJ, RNF17 (T1246M)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	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)	Microcephaly 6, primary, autosomal recessive +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

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