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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2315325	NM_021147.5(CCNO):c.1040C>G (p.Pro347Arg)	CCNO (P347R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264594	NM_021147.5(CCNO):c.986C>T (p.Thr329Ile)	CCNO (T329I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139989	NM_021147.5(CCNO):c.982A>G (p.Ser328Gly)	CCNO (S328G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3139988	NM_021147.5(CCNO):c.950T>C (p.Met317Thr)	CCNO (M317T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 454918	NM_021147.5(CCNO):c.787C>T (p.Arg263Trp)	CCNO (R263W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2339985	NM_021147.5(CCNO):c.778G>T (p.Ala260Ser)	CCNO (A260S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339984	NM_021147.5(CCNO):c.776A>C (p.Gln259Pro)	CCNO (Q259P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 857063	NM_021147.5(CCNO):c.724C>T (p.His242Tyr)	CCNO (H242Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 411601	NM_021147.5(CCNO):c.688G>A (p.Ala230Thr)	CCNO (A230T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2388010	NM_021147.5(CCNO):c.607C>G (p.Leu203Val)	CCNO (L203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542495	NM_021147.5(CCNO):c.317A>C (p.Tyr106Ser)	CCNO (Y106S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139987	NM_021147.5(CCNO):c.280G>C (p.Asp94His)	CCNO, LOC129993895 (D94H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139986	NM_021147.5(CCNO):c.266C>T (p.Pro89Leu)	CCNO, LOC129993895 (P89L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1698884	NM_021147.5(CCNO):c.265C>G (p.Pro89Ala)	CCNO, LOC129993895 (P89A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 2239168	NM_021147.5(CCNO):c.224C>T (p.Ser75Phe)	CCNO (S75F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 800189	NM_021147.5(CCNO):c.206A>G (p.Asp69Gly)	CCNO (D69G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2388009	NM_021147.5(CCNO):c.188C>A (p.Ser63Tyr)	CCNO (S63Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 648428	NM_021147.5(CCNO):c.187T>C (p.Ser63Pro)	CCNO (S63P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 3139985	NM_021147.5(CCNO):c.169A>G (p.Ile57Val)	CCNO (I57V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3264595	NM_021147.5(CCNO):c.133C>G (p.Pro45Ala)	CCNO (P45A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139984	NM_021147.5(CCNO):c.131A>G (p.His44Arg)	CCNO (H44R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264593	NM_021147.5(CCNO):c.118A>G (p.Lys40Glu)	CCNO (K40E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 644509	NM_021147.5(CCNO):c.62A>G (p.Asn21Ser)	CCNO (N21S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2043066	NM_021147.5(CCNO):c.26C>T (p.Pro9Leu)	CCNO (P9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2236303	NM_021147.5(CCNO):c.19A>C (p.Thr7Pro)	CCNO (T7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25