"Ambry Genetics"[submitter] AND "CCNF"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2309453	NM_001761.3(CCNF):c.85A>C (p.Asn29His)	CCNF (N29H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2568509	NM_001761.3(CCNF):c.163G>A (p.Val55Ile)	CCNF (V55I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264559	NM_001761.3(CCNF):c.215T>C (p.Val72Ala)	CCNF (V72A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 799846	NM_001761.3(CCNF):c.257G>A (p.Gly86Glu)	CCNF (G86E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3139926	NM_001761.3(CCNF):c.279G>A (p.Arg93=)	CCNF	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2619839	NM_001761.3(CCNF):c.279G>C (p.Arg93Ser)	CCNF (R93S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264560	NM_001761.3(CCNF):c.287A>T (p.Glu96Val)	CCNF (E96V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1343313	NM_001761.3(CCNF):c.419G>A (p.Arg140Gln)	CCNF (R140Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2355987	NM_001761.3(CCNF):c.427G>A (p.Val143Met)	CCNF (V143M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2480006	NM_001761.3(CCNF):c.496G>A (p.Ala166Thr)	CCNF (A166T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2473107	NM_001761.3(CCNF):c.546C>A (p.His182Gln)	CCNF (H182Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399421	NM_001761.3(CCNF):c.716G>A (p.Arg239Gln)	CCNF (R239Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264562	NM_001761.3(CCNF):c.739C>G (p.Leu247Val)	CCNF (L247V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2276465	NM_001761.3(CCNF):c.799G>A (p.Ala267Thr)	CCNF (A267T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388449	NM_001761.3(CCNF):c.889C>G (p.Gln297Glu)	CCNF (Q297E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2362601	NM_001761.3(CCNF):c.1007A>G (p.Glu336Gly)	CCNF (E336G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264556	NM_001761.3(CCNF):c.1072G>A (p.Ala358Thr)	CCNF (A358T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264557	NM_001761.3(CCNF):c.1099A>G (p.Ile367Val)	CCNF (I367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511824	NM_001761.3(CCNF):c.1352G>A (p.Arg451His)	CCNF (R451H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139921	NM_001761.3(CCNF):c.1393G>A (p.Gly465Arg)	CCNF (G157R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251972	NM_001761.3(CCNF):c.1412C>T (p.Thr471Ile)	CCNF (T471I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248498	NM_001761.3(CCNF):c.1477C>T (p.His493Tyr)	CCNF (H185Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301826	NM_001761.3(CCNF):c.1649C>T (p.Pro550Leu)	CCNF (P242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231354	NM_001761.3(CCNF):c.1649C>A (p.Pro550Gln)	CCNF (P242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556225	NM_001761.3(CCNF):c.1663A>T (p.Thr555Ser)	CCNF (T247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322464	NM_001761.3(CCNF):c.1670A>T (p.Glu557Val)	CCNF (E249V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492833	NM_001761.3(CCNF):c.1711A>G (p.Lys571Glu)	CCNF (K263E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529852	NM_001761.3(CCNF):c.1808G>C (p.Ser603Thr)	CCNF (S603T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139922	NM_001761.3(CCNF):c.1828G>C (p.Asp610His)	CCNF (D302H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139923	NM_001761.3(CCNF):c.1862G>C (p.Ser621Thr)	CCNF (S313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472388	NM_001761.3(CCNF):c.1866G>T (p.Glu622Asp)	CCNF (E622D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284810	NM_001761.3(CCNF):c.1973C>T (p.Ala658Val)	CCNF, LOC105371050 (A350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139924	NM_001761.3(CCNF):c.2038A>C (p.Thr680Pro)	CCNF, LOC105371050 (T680P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264561	NM_001761.3(CCNF):c.2063G>A (p.Arg688His)	CCNF, LOC105371050 (R380H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264558	NM_001761.3(CCNF):c.2129C>A (p.Pro710His)	CCNF, LOC105371050 (P710H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313531	NM_001761.3(CCNF):c.2141T>G (p.Val714Gly)	CCNF, LOC105371050 (V406G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309745	NM_001761.3(CCNF):c.2177C>T (p.Ser726Leu)	CCNF, LOC105371050 (S726L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139925	NM_001761.3(CCNF):c.2191G>A (p.Asp731Asn)	CCNF, LOC105371050 (D423N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2458263	NM_001761.3(CCNF):c.2201C>T (p.Ser734Leu)	CCNF, LOC105371050 (S426L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558574	NM_001761.3(CCNF):c.2293G>A (p.Val765Met)	CCNF, LOC105371050 (V457M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264555	NM_001761.3(CCNF):c.2300G>A (p.Arg767Gln)	CCNF, LOC105371050 (R459Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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

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Items: 42