"GeneDx"[submitter] AND "RNF17"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 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 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 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 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 1292380	NM_018451.5(CENPJ):c.*108A>G	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 3377898	NM_018451.5(CPAP):c.3940C>A (p.Gln1314Lys)	CPAP, RNF17 (Q1314K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 158214	NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile)	CPAP, RNF17 (T1307I)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 3253388	NM_018451.5(CENPJ):c.3851_3854dup (p.Asn1285delinsLysTer)	RNF17, CENPJ	Duplication (nonsense +1 more)	not provided	GUncertain significance
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 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
Select item 3375724	NM_018451.5(CPAP):c.3767T>C (p.Phe1256Ser)	RNF17, CPAP (F1256S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 158213	NM_018451.5(CENPJ):c.3704-14_3704-12del	CENPJ, RNF17	Microsatellite (intron variant)	Microcephaly 6, primary, autosomal recessive +5 more	GBenign
Select item 1177988	NM_018451.5(CENPJ):c.3703+28_3703+31dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 513197	NM_018451.5(CENPJ):c.3703+19del	CENPJ, RNF17	Deletion (intron variant)	not specified	GLikely benign
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 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 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 420308	NM_018451.5(CENPJ):c.3621C>G (p.Ile1207Met)	CENPJ, RNF17 (I1207M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320988	NM_018451.5(CENPJ):c.3602T>A (p.Met1201Lys)	CENPJ, RNF17 (M1201K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 513782	NM_018451.5(CENPJ):c.3478-19T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 158212	NM_018451.5(CENPJ):c.3478-49C>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	Microcephaly 6, primary, autosomal recessive +2 more	GBenign
Select item 668064	NM_018451.5(CENPJ):c.3478-252A>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190628	NM_018451.5(CENPJ):c.3478-270T>A	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254029	NM_018451.5(CENPJ):c.3477+334T>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680183	NM_018451.5(CENPJ):c.3477+144G>A	CENPJ, RNF17	Single nucleotide variant (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 515121	NM_018451.5(CENPJ):c.3477+9A>G	CENPJ, RNF17	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 594724	NM_018451.5(CENPJ):c.3424G>A (p.Glu1142Lys)	CENPJ, RNF17 (E1142K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 158209	NM_018451.5(CENPJ):c.3367-12T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	Microcephaly 6, primary, autosomal recessive +3 more	GBenign
Select item 1192932	NM_018451.5(CENPJ):c.3367-25T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270614	NM_018451.5(CENPJ):c.3367-42_3367-39del	CENPJ, RNF17	Deletion (intron variant)	not provided	GBenign
Select item 672216	NM_018451.5(CENPJ):c.3366+87C>T	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 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 21664	NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)	CENPJ, RNF17 (N1102S)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 1237047	NM_018451.5(CENPJ):c.3302-140_3302-139dup	CENPJ, RNF17	Duplication (intron variant)	not provided	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 55