"Ambry Genetics"[submitter] AND "CFAP92"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597273	NM_014049.5(ACAD9):c.1601C>T (p.Ala534Val)	CFAP92, ACAD9 (A411V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1069233	NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	ACAD9, CFAP92 (I554fs)	Duplication (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2385298	NM_014049.5(ACAD9):c.1643C>T (p.Ser548Leu)	ACAD9, CFAP92 (S548L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 213992	NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val)	CFAP92, ACAD9 (I556V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1149797	NM_014049.5(ACAD9):c.1706A>G (p.Asn569Ser)	ACAD9, CFAP92 (N569S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1146848	NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)	CFAP92, ACAD9 (V573M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2537683	NM_014049.5(ACAD9):c.1781T>C (p.Leu594Pro)	ACAD9, CFAP92 (L471P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 242523	NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)	ACAD9, CFAP92 (P616S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2484384	NM_001394090.1(CFAP92):c.1168+9T>C	CFAP92 (C393R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546925	NM_001394090.1(CFAP92):c.919A>G (p.Thr307Ala)	CFAP92 (T307A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623237	NM_001394090.1(CFAP92):c.617G>A (p.Arg206Gln)	CFAP92, LOC126806808 (R94Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551792	NM_001394090.1(CFAP92):c.576G>T (p.Trp192Cys)	CFAP92, LOC126806808 (W80C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480375	NM_001394090.1(CFAP92):c.379G>A (p.Asp127Asn)	CFAP92 (D127N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483569	NM_001394090.1(CFAP92):c.344G>A (p.Arg115His)	CFAP92 (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553600	NM_001394090.1(CFAP92):c.341G>A (p.Arg114His)	CFAP92 (R114H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521641	NM_001394090.1(CFAP92):c.284G>A (p.Ser95Asn)	CFAP92 (S95N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2495593	NM_001394090.1(CFAP92):c.178G>A (p.Glu60Lys)	CFAP92 (E60K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2614472	NM_001394090.1(CFAP92):c.109C>A (p.Leu37Met)	CFAP92 (L37M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2493568	NM_001377500.1(EFCC1):c.4G>A (p.Glu2Lys)	CFAP92, EFCC1 (E2K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548326	NM_001377500.1(EFCC1):c.41G>T (p.Gly14Val)	CFAP92, EFCC1 (G14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591424	NM_001377500.1(EFCC1):c.52G>C (p.Asp18His)	CFAP92, EFCC1 (D18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219144	NM_001377500.1(EFCC1):c.89T>G (p.Leu30Arg)	CFAP92, EFCC1 (L30R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351215	NM_001377500.1(EFCC1):c.98C>T (p.Ala33Val)	CFAP92, EFCC1 (A33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516597	NM_001377500.1(EFCC1):c.268G>A (p.Ala90Thr)	CFAP92, EFCC1 (A90T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342274	NM_001377500.1(EFCC1):c.400C>T (p.Arg134Cys)	CFAP92, EFCC1 (R134C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620918	NM_001377500.1(EFCC1):c.401G>C (p.Arg134Pro)	CFAP92, EFCC1 (R134P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351426	NM_001377500.1(EFCC1):c.403G>A (p.Ala135Thr)	CFAP92, EFCC1 (A135T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204579	NM_001377500.1(EFCC1):c.511G>A (p.Glu171Lys)	CFAP92, EFCC1 (E171K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515961	NM_001377500.1(EFCC1):c.554C>A (p.Pro185Gln)	CFAP92, EFCC1 (P185Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588235	NM_001377500.1(EFCC1):c.598G>T (p.Val200Phe)	EFCC1, CFAP92 (V200F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2519492	NM_001377500.1(EFCC1):c.625A>C (p.Ser209Arg)	CFAP92, EFCC1 (S209R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546873	NM_001377500.1(EFCC1):c.797C>T (p.Ala266Val)	CFAP92, EFCC1 (A266V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296409	NM_001377500.1(EFCC1):c.896T>A (p.Val299Glu)	CFAP92, EFCC1 (V299E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359195	NM_001377500.1(EFCC1):c.908A>C (p.Glu303Ala)	CFAP92, EFCC1 (E303A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269006	NM_001377500.1(EFCC1):c.908A>G (p.Glu303Gly)	CFAP92, EFCC1 (E303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522963	NM_001377500.1(EFCC1):c.920A>G (p.Gln307Arg)	CFAP92, EFCC1 (Q307R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2607430	NM_001377500.1(EFCC1):c.939G>C (p.Gln313His)	CFAP92, EFCC1 (Q313H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229702	NM_001377500.1(EFCC1):c.977A>G (p.Tyr326Cys)	EFCC1, CFAP92 (Y326C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38