Related gene-specific medical variations for Gene (Select 29781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336035	NM_005138.3(SCO2):c.661A>G (p.Ile221Val)	NCAPH2, SCO2 (I221V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316666	NM_005138.3(SCO2):c.226C>A (p.Leu76Met)	NCAPH2, SCO2 (L76M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3316665	NM_005138.3(SCO2):c.586A>G (p.Lys196Glu)	NCAPH2, SCO2 (K196E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3316664	NM_005138.3(SCO2):c.307G>A (p.Asp103Asn)	NCAPH2, SCO2 (D103N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3240429	NM_005138.3(SCO2):c.563del (p.Leu188fs)	NCAPH2, SCO2 (L188fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 3240428	NM_005138.3(SCO2):c.135_136del (p.Glu45fs)	NCAPH2, SCO2 (E45fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 3240427	NM_005138.3(SCO2):c.120_135del (p.Gly42fs)	NCAPH2, SCO2 (G42fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 3158630	NM_005138.3(SCO2):c.26C>G (p.Thr9Arg)	NCAPH2, SCO2 (T9R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158629	NM_005138.3(SCO2):c.218G>C (p.Gly73Ala)	NCAPH2, SCO2 (G73A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063990	NM_005138.3(SCO2):c.289G>T (p.Ala97Ser)	NCAPH2, SCO2 (A97S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3056274	NM_005138.3(SCO2):c.593T>C (p.Val198Ala)	NCAPH2, SCO2 (V198A)	Single nucleotide variant (3 prime UTR variant +1 more)	SCO2-related disorder	GUncertain significance
Select item 3025219	NM_005138.3(SCO2):c.407T>C (p.Ile136Thr)	NCAPH2, SCO2 (I136T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020754	NM_005138.3(SCO2):c.780T>C (p.Ala260=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3013081	NM_005138.3(SCO2):c.358del (p.Arg120fs)	NCAPH2, SCO2 (R120fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3012215	NM_005138.3(SCO2):c.498T>C (p.Thr166=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3010828	NM_005138.3(SCO2):c.358C>A (p.Arg120=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3010061	NM_005138.3(SCO2):c.486T>C (p.Pro162=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008774	NM_005138.3(SCO2):c.135G>A (p.Glu45=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3007126	NM_005138.3(SCO2):c.66C>T (p.Leu22=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2997727	NM_005138.3(SCO2):c.660C>T (p.Tyr220=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2997587	NM_005138.3(SCO2):c.153G>A (p.Gln51=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2996056	NM_005138.3(SCO2):c.183G>A (p.Leu61=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2992335	NM_005138.3(SCO2):c.423G>T (p.Leu141=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2986223	NM_005138.3(SCO2):c.373C>T (p.Leu125=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2984517	NM_005138.3(SCO2):c.54G>A (p.Lys18=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2982033	NM_005138.3(SCO2):c.633A>T (p.Ala211=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2969674	NM_005138.3(SCO2):c.177C>T (p.Thr59=)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2967556	NM_005138.3(SCO2):c.250_251del (p.Arg84fs)	NCAPH2, SCO2 (R84fs)	Microsatellite (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2914849	NM_005138.3(SCO2):c.213C>T (p.Leu71=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2906295	NM_005138.3(SCO2):c.699T>G (p.Pro233=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2900593	NM_005138.3(SCO2):c.777G>C (p.Ala259=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2897829	NM_005138.3(SCO2):c.800G>A (p.Ter267=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2894501	NM_005138.3(SCO2):c.210A>G (p.Gly70=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2887222	NM_005138.3(SCO2):c.228G>A (p.Leu76=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2885252	NM_005138.3(SCO2):c.59_60delinsCA (p.Arg20Pro)	NCAPH2, SCO2 (R20P)	Indel (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2881762	NM_005138.3(SCO2):c.204G>A (p.Gly68=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2881103	NM_005138.3(SCO2):c.156C>G (p.Pro52=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2879515	NM_005138.3(SCO2):c.423G>A (p.Leu141=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2874567	NM_005138.3(SCO2):c.102G>A (p.Arg34=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2874554	NM_005138.3(SCO2):c.12G>A (p.Leu4=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2865281	NM_005138.3(SCO2):c.198G>C (p.Leu66=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2863341	NM_005138.3(SCO2):c.270A>G (p.Arg90=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2860330	NM_005138.3(SCO2):c.357C>T (p.Phe119=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2856818	NM_005138.3(SCO2):c.684C>T (p.Ile228=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2856660	NM_005138.3(SCO2):c.711C>T (p.Phe237=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2855524	NM_005138.3(SCO2):c.639C>T (p.Pro213=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2854514	NM_005138.3(SCO2):c.618C>G (p.Arg206=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2853749	NM_005138.3(SCO2):c.184C>T (p.Leu62=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2853694	NM_005138.3(SCO2):c.66C>A (p.Leu22=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2850890	NM_005138.3(SCO2):c.84C>T (p.Gly28=)	NCAPH2, SCO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850214	NM_005138.3(SCO2):c.195C>T (p.Gly65=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2845248	NM_005138.3(SCO2):c.219G>A (p.Gly73=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2838141	NM_005138.3(SCO2):c.564G>C (p.Leu188=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2837477	NM_005138.3(SCO2):c.525A>G (p.Glu175=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2833718	NM_005138.3(SCO2):c.438G>A (p.Gln146=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2832618	NM_005138.3(SCO2):c.282G>C (p.Leu94=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2831032	NM_005138.3(SCO2):c.753A>G (p.Ser251=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2830530	NM_005138.3(SCO2):c.441G>A (p.Val147=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2829315	NM_005138.3(SCO2):c.438_439dup (p.Val147fs)	NCAPH2, SCO2 (V147fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2827660	NM_005138.3(SCO2):c.384T>C (p.Phe128=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2822440	NM_005138.3(SCO2):c.645T>C (p.Asp215=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2817521	NM_005138.3(SCO2):c.714G>T (p.Thr238=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2817498	NM_005138.3(SCO2):c.555C>T (p.His185=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2817279	NM_005138.3(SCO2):c.250A>C (p.Arg84=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2812444	NM_005138.3(SCO2):c.15T>C (p.Thr5=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2808521	NM_005138.3(SCO2):c.90C>G (p.Ala30=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2806763	NM_005138.3(SCO2):c.141T>A (p.Gly47=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2806287	NM_005138.3(SCO2):c.543C>G (p.Val181=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2804270	NM_005138.3(SCO2):c.390C>T (p.Phe130=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2803737	NM_005138.3(SCO2):c.27A>G (p.Thr9=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2802621	NM_005138.3(SCO2):c.741T>G (p.Ala247=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2801894	NM_005138.3(SCO2):c.232_233del (p.Leu78fs)	NCAPH2, SCO2 (L78fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2800038	NM_005138.3(SCO2):c.330_331del (p.Gly111fs)	NCAPH2, SCO2 (G111fs)	Microsatellite (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2798083	NM_005138.3(SCO2):c.108G>A (p.Trp36Ter)	NCAPH2, SCO2 (W36*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2796876	NM_005138.3(SCO2):c.172C>G (p.Arg58Gly)	NCAPH2, SCO2 (R58G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2793547	NM_005138.3(SCO2):c.447G>A (p.Arg149=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2789639	NM_005138.3(SCO2):c.579C>T (p.Gly193=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2785721	NM_005138.3(SCO2):c.69T>C (p.Pro23=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2783127	NM_005138.3(SCO2):c.539dup (p.Tyr180Ter)	NCAPH2, SCO2 (Y180*)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2780143	NM_005138.3(SCO2):c.172C>T (p.Arg58Ter)	NCAPH2, SCO2 (R58*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2779728	NM_005138.3(SCO2):c.445dup (p.Arg149fs)	NCAPH2, SCO2 (R149fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2776900	NM_005138.3(SCO2):c.121C>T (p.Gln41Ter)	NCAPH2, SCO2 (Q41*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2775534	NM_005138.3(SCO2):c.687C>T (p.Tyr229=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2772673	NM_005138.3(SCO2):c.387_388del (p.Phe130fs)	NCAPH2, SCO2 (F130fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2763900	NM_005138.3(SCO2):c.449dup (p.Leu151fs)	NCAPH2, SCO2 (L151fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2760098	NM_005138.3(SCO2):c.116C>A (p.Ser39Ter)	NCAPH2, SCO2 (S39*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2757540	NM_005138.3(SCO2):c.186G>C (p.Leu62=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2756408	NM_005138.3(SCO2):c.186G>T (p.Leu62=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2753551	NM_005138.3(SCO2):c.180G>A (p.Arg60=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2753064	NM_005138.3(SCO2):c.727C>A (p.Arg243=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2748695	NM_005138.3(SCO2):c.333C>T (p.Gly111=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2745206	NM_005138.3(SCO2):c.178C>A (p.Arg60=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2744796	NM_005138.3(SCO2):c.186G>A (p.Leu62=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2737058	NM_005138.3(SCO2):c.401_402del (p.Pro134fs)	NCAPH2, SCO2 (P134fs)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2735939	NM_005138.3(SCO2):c.116_131dup (p.Glu45fs)	NCAPH2, SCO2 (E45fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2728642	NM_005138.3(SCO2):c.181C>T (p.Leu61=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2727757	NM_005138.3(SCO2):c.252G>A (p.Arg84=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2727317	NM_005138.3(SCO2):c.150C>T (p.Gly50=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2722786	NM_005138.3(SCO2):c.364C>T (p.Gln122Ter)	NCAPH2, SCO2 (Q122*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2722638	NM_005138.3(SCO2):c.690G>C (p.Leu230=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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