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

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Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 1248348	NM_001761.3(CCNF):c.-1G>C	CCNF	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3340232	NM_001761.3(CCNF):c.7A>G (p.Ser3Gly)	CCNF (S3G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1258173	NM_001761.3(CCNF):c.16+214A>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248978	NM_001761.3(CCNF):c.17-183A>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231346	NM_001761.3(CCNF):c.17-27C>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363223	NM_001761.3(CCNF):c.248C>T (p.Pro83Leu)	CCNF (P83L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1286541	NM_001761.3(CCNF):c.278+112T>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262373	NM_001761.3(CCNF):c.279-209AT[7]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 1231273	NM_001761.3(CCNF):c.279-206T>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269869	NM_001761.3(CCNF):c.279-178_279-161del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1265725	NM_001761.3(CCNF):c.279-150CA[7]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 1249938	NM_001761.3(CCNF):c.279-142_279-129del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1222199	NM_001761.3(CCNF):c.279-142_279-123del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1294647	NM_001761.3(CCNF):c.279-140_279-123del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1239890	NM_001761.3(CCNF):c.279-140_279-125del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1234935	NM_001761.3(CCNF):c.279-139AT[10]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 1248022	NM_001761.3(CCNF):c.346+22A>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229676	NM_001761.3(CCNF):c.347-132A>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233055	NM_001761.3(CCNF):c.347-118_347-117insT	CCNF	Insertion (intron variant)	not provided	GBenign
Select item 1289234	NM_001761.3(CCNF):c.540+97G>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258644	NM_001761.3(CCNF):c.540+161C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263432	NM_001761.3(CCNF):c.541-216_541-215dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1280729	NM_001761.3(CCNF):c.541-149_541-148dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1221416	NM_001761.3(CCNF):c.541-148dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1256830	NM_001761.3(CCNF):c.594+87T>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240652	NM_001761.3(CCNF):c.595-248C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224956	NM_001761.3(CCNF):c.699+75T>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663336	NM_001761.3(CCNF):c.761G>C (p.Gly254Ala)	CCNF (G254A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1262813	NM_001761.3(CCNF):c.777+143C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271713	NM_001761.3(CCNF):c.929+137dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1285773	NM_001761.3(CCNF):c.929+219G>A	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243820	NM_001761.3(CCNF):c.1094+105_1094+106dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1257021	NM_001761.3(CCNF):c.1094+107G>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181802	NM_001761.3(CCNF):c.1095-28A>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291600	NM_001761.3(CCNF):c.1095-7G>A	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230457	NM_001761.3(CCNF):c.1218+32T>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237026	NM_001761.3(CCNF):c.1400-42TCCCCTCCA[3]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 1703946	NM_001761.3(CCNF):c.1438T>A (p.Phe480Ile)	CCNF (F172I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289825	NM_001761.3(CCNF):c.1487+155G>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222084	NM_001761.3(CCNF):c.1886-240G>A	CCNF, LOC105371050	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228978	NM_001761.3(CCNF):c.1886-133A>G	CCNF, LOC105371050	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501337	NM_001761.3(CCNF):c.2156G>T (p.Gly719Val)	CCNF, LOC105371050 (G411V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130540	NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)	CCNF, TBC1D24 (R214H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 253688	GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4	CEMP1, E4F1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 3359870	NM_001761.3(CCNF):c.2167C>T (p.Gln723Ter)	CCNF (Q415* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 49