Related gene-specific medical variations for Gene (Select 9997) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3464794	NM_001953.5(TYMP):c.1069G>A (p.Ala357Thr)	LOC130067862, SCO2 +1 more (A357T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3464793	NM_001953.5(TYMP):c.1438C>T (p.Pro480Ser)	LOC130067862, SCO2 +1 more (P480S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3464791	NM_001953.5(TYMP):c.1353G>C (p.Gln451His)	LOC130067862, SCO2 +1 more (Q451H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3464788	NM_001953.5(TYMP):c.1348C>G (p.Pro450Ala)	LOC130067862, SCO2 +1 more (P450A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3392879	NM_001953.5(TYMP):c.1234G>A (p.Gly412Arg)	LOC130067862, SCO2 +1 more (G412R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3380733	NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser)	LOC130067862, SCO2 +1 more (G355S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380732	NM_005138.3(SCO2):c.338C>T (p.Ala113Val)	NCAPH2, SCO2 (A113V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3378333	NM_005138.3(SCO2):c.719A>G (p.Tyr240Cys)	NCAPH2, SCO2 (Y240C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3343506	NM_001953.5(TYMP):c.1283_1284delinsAA (p.Gly428Glu)	LOC130067862, SCO2 +1 more (G428E +1 more)	Indel (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3338737	NM_001953.5(TYMP):c.1145T>C (p.Leu382Pro)	LOC130067862, SCO2 +1 more (L382P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3185243	NM_001953.5(TYMP):c.1408C>T (p.Pro470Ser)	LOC130067862, SCO2 +1 more (P475S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3185241	NM_001953.5(TYMP):c.1189C>A (p.Leu397Met)	LOC130067862, SCO2 +1 more (L402M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3185240	NM_001953.5(TYMP):c.1021G>C (p.Gly341Arg)	LOC130067862, SCO2 +1 more (G341R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3031371	NM_001953.5(TYMP):c.*6C>T	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	TYMP-related disorder	GLikely benign
Select item 3025219	NM_005138.3(SCO2):c.407T>C (p.Ile136Thr)	NCAPH2, SCO2 (I136T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3022149	NM_001953.5(TYMP):c.1301-14C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3018155	NM_001953.5(TYMP):c.1405G>A (p.Ala469Thr)	LOC130067862, SCO2 +1 more (A474T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3012195	NM_001953.5(TYMP):c.999G>A (p.Ala333=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012048	NM_001953.5(TYMP):c.1255dup (p.Val419fs)	LOC130067862, SCO2 +1 more (V419fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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 3007194	NM_001953.5(TYMP):c.1377C>G (p.Leu459=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2998520	NM_001953.5(TYMP):c.1407C>A (p.Ala469=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2996845	NM_001953.5(TYMP):c.1392C>T (p.Arg464=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2983445	NM_001953.5(TYMP):c.1407C>T (p.Ala469=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2980953	NM_001953.5(TYMP):c.1141C>T (p.Leu381=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979142	NM_001953.5(TYMP):c.1221G>A (p.Gly407=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2972298	NM_001953.5(TYMP):c.1260C>T (p.Gly420=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2971508	NM_001953.5(TYMP):c.1428C>A (p.Leu476=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2969075	NM_001953.5(TYMP):c.1182G>A (p.Ala394=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 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 2966141	NM_001953.5(TYMP):c.1300+15dup	LOC130067862, SCO2 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 2957503	NM_001953.5(TYMP):c.1159+14G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919512	NM_001953.5(TYMP):c.1014G>A (p.Ser338=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2913923	NM_001953.5(TYMP):c.1159+14G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913615	NM_001953.5(TYMP):c.1159+12G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910920	NM_001953.5(TYMP):c.1160-17A>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2908921	NM_001953.5(TYMP):c.1116G>A (p.Leu372=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2905967	NM_001953.5(TYMP):c.1159+11G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902289	NM_001953.5(TYMP):c.1329C>T (p.Asp443=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2897052	NM_001953.5(TYMP):c.1301-12C>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	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 2893005	NM_001953.5(TYMP):c.963G>T (p.Gly321=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892505	NM_001953.5(TYMP):c.1161C>T (p.Gly387=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2888017	NM_001953.5(TYMP):c.1201C>T (p.Leu401=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2887282	NM_001953.5(TYMP):c.1301-20A>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	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 2887170	NM_001953.5(TYMP):c.1160-19T>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	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 2881151	NM_001953.5(TYMP):c.1281G>C (p.Val427=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 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 2878809	NM_001953.5(TYMP):c.1332C>G (p.Gly444=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875966	NM_001953.5(TYMP):c.987G>A (p.Arg329=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2866953	NM_001953.5(TYMP):c.1030G>T (p.Glu344Ter)	LOC130067862, SCO2 +1 more (E344*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2862639	NM_001953.5(TYMP):c.1386C>G (p.Ser462=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous 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 2852472	NM_001953.5(TYMP):c.1179G>A (p.Arg393=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 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 2850697	NM_001953.5(TYMP):c.1191G>A (p.Leu397=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 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

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