ClinVar for Gene (Select 1355) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373745	NM_078470.6(COX15):c.335_336insT (p.Ser113fs)	COX15 (S113fs)	Insertion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3371366	NM_078470.6(COX15):c.1217G>A (p.Arg406Gln)	COX15 (R227Q +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3339589	NM_078470.6(COX15):c.597G>A (p.Trp199Ter)	COX15 (W199* +1 more)	Single nucleotide variant (nonsense +1 more)	Leigh syndrome	GPathogenic
Select item 3275557	NM_020354.5(ENTPD7):c.1222A>G (p.Ile408Val)	COX15, ENTPD7 (I408V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275556	NM_020354.5(ENTPD7):c.1422A>G (p.Lys474=)	COX15, ENTPD7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3275555	NM_020354.5(ENTPD7):c.1210T>C (p.Tyr404His)	COX15, ENTPD7 (Y404H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089117	NM_020354.5(ENTPD7):c.962G>A (p.Arg321Gln)	COX15, ENTPD7 (R321Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3089110	NM_020354.5(ENTPD7):c.1449G>A (p.Met483Ile)	COX15, ENTPD7 (M483I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076441	NM_078470.6(COX15):c.866T>C (p.Val289Ala)	COX15 (V280A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076439	NM_078470.6(COX15):c.5A>G (p.Gln2Arg)	COX15, LOC130004506 (Q2R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3076438	NM_078470.6(COX15):c.233G>C (p.Gly78Ala)	COX15 (G78A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3069026	NM_078470.6(COX15):c.*1120T>C	COX15 (F372L)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3030231	NM_078470.6(COX15):c.112T>C (p.Leu38=)	COX15	Single nucleotide variant (synonymous variant +2 more)	COX15-related disorder	GLikely benign
Select item 3022512	NM_078470.6(COX15):c.159T>C (p.Ser53=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3019594	NM_078470.6(COX15):c.87A>G (p.Ala29=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3013245	NM_078470.6(COX15):c.1080G>C (p.Leu360=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3006010	NM_078470.6(COX15):c.99C>T (p.Cys33=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3005946	NM_078470.6(COX15):c.282G>A (p.Glu94=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3005458	NM_078470.6(COX15):c.396-20T>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005426	NM_078470.6(COX15):c.395+17A>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002699	NM_078470.6(COX15):c.294G>A (p.Ser98=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2999245	NM_078470.6(COX15):c.*1104A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2998098	NM_078470.6(COX15):c.273-15C>A	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998078	NM_078470.6(COX15):c.372C>A (p.Tyr124Ter)	COX15 (Y124*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2996605	NM_078470.6(COX15):c.751-19G>A	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996108	NM_078470.6(COX15):c.30G>A (p.Arg10=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2993618	NM_078470.6(COX15):c.832+7C>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991331	NM_078470.6(COX15):c.15C>T (p.Leu5=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2990601	NM_078470.6(COX15):c.91-1G>C	COX15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2987068	NM_078470.6(COX15):c.988-2A>T	COX15 (Q335L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2985320	NM_078470.6(COX15):c.751-18del	COX15	Deletion (intron variant)	not provided	GLikely benign
Select item 2984566	NM_078470.6(COX15):c.559dup (p.Leu187fs)	COX15 (L8fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2983577	NM_078470.6(COX15):c.561C>T (p.Leu187=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983407	NM_078470.6(COX15):c.60C>T (p.Leu20=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2983051	NM_078470.6(COX15):c.273-20A>C	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981637	NM_078470.6(COX15):c.90+19C>T	COX15, LOC130004506	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979873	NM_078470.6(COX15):c.273-5C>T	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979691	NM_078470.6(COX15):c.162A>G (p.Gly54=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2979380	NM_078470.6(COX15):c.189G>A (p.Lys63=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2971844	NM_078470.6(COX15):c.582+19T>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971739	NM_078470.6(COX15):c.750+12G>A	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968162	NM_078470.6(COX15):c.988-15_988-14del	COX15 (L331fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely benign
Select item 2960436	NM_078470.6(COX15):c.738C>T (p.Leu246=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959201	NM_078470.6(COX15):c.33C>T (p.Ala11=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2958559	NM_078470.6(COX15):c.91-14A>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957504	NM_078470.6(COX15):c.457C>T (p.Arg153Ter)	COX15 (R153*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2954725	NM_078470.6(COX15):c.832+13T>C	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902076	NM_078470.6(COX15):c.231T>C (p.Ser77=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2890705	NM_078470.6(COX15):c.966G>A (p.Val322=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888159	NM_078470.6(COX15):c.714G>A (p.Leu238=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886194	NM_078470.6(COX15):c.583-2A>G	COX15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2880772	NM_078470.6(COX15):c.507C>G (p.Tyr169Ter)	COX15 (Y169*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2880348	NM_078470.6(COX15):c.396-7C>T	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877373	NM_078470.6(COX15):c.1056G>A (p.Arg352=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2875100	NM_078470.6(COX15):c.693G>C (p.Leu231=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874715	NM_078470.6(COX15):c.1101+10A>T	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873866	NM_078470.6(COX15):c.610dup (p.Ser204fs)	COX15 (S25fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2869361	NM_078470.6(COX15):c.756T>C (p.Pro252=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868434	NM_078470.6(COX15):c.312A>G (p.Leu104=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2867543	NM_078470.6(COX15):c.681G>A (p.Leu227=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864533	NM_078470.6(COX15):c.988-12T>G	COX15 (S332A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2860490	NM_078470.6(COX15):c.591G>A (p.Leu197=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856787	NM_078470.6(COX15):c.762C>T (p.Thr254=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856524	NM_078470.6(COX15):c.663C>A (p.Tyr221Ter)	COX15 (Y42* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2855906	NM_078470.6(COX15):c.1092G>T (p.Ala364=)	COX15	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2855146	NM_078470.6(COX15):c.78G>T (p.Ala26=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2854588	NM_078470.6(COX15):c.90+1G>C	COX15, LOC130004506	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2852490	NM_078470.6(COX15):c.543A>G (p.Lys181=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849564	NM_078470.6(COX15):c.1101+13T>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849174	NM_078470.6(COX15):c.1005T>G (p.Thr335=)	COX15 (C284G)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2848947	NM_078470.6(COX15):c.832+15A>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847134	NM_078470.6(COX15):c.34T>C (p.Leu12=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2846994	NM_078470.6(COX15):c.156A>G (p.Gln52=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2841709	NM_078470.6(COX15):c.415C>T (p.Leu139=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840289	NM_078470.6(COX15):c.372C>T (p.Tyr124=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2838473	NM_078470.6(COX15):c.381T>C (p.Phe127=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2837354	NM_078470.6(COX15):c.270T>C (p.Thr90=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2837000	NM_078470.6(COX15):c.987+1G>T	COX15	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2836812	NM_078470.6(COX15):c.498T>A (p.Pro166=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2836617	NM_078470.6(COX15):c.987+14G>A	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828102	NM_078470.6(COX15):c.987+14G>T	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824703	NM_078470.6(COX15):c.987+18T>C	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823330	NM_078470.6(COX15):c.51T>C (p.Tyr17=)	COX15, LOC130004506	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2822944	NM_078470.6(COX15):c.636C>G (p.Ser212=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822471	NM_078470.6(COX15):c.1017G>A (p.Val339=)	COX15 (A288T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2822465	NM_078470.6(COX15):c.207G>A (p.Val69=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2820131	NM_078470.6(COX15):c.*1167C>T	COX15	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2817347	NC_000010.11:g.99724124del	COX15	Deletion	not provided	GPathogenic
Select item 2815992	NM_078470.6(COX15):c.819T>C (p.Leu273=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2815034	NM_078470.6(COX15):c.960C>A (p.Thr320=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813897	NM_078470.6(COX15):c.371dup (p.Tyr124Ter)	COX15 (Y124*)	Duplication (nonsense +2 more)	not provided	GPathogenic
Select item 2812177	NM_078470.6(COX15):c.733C>T (p.Leu245=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812051	NM_078470.6(COX15):c.537C>T (p.Gly179=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2809650	NM_078470.6(COX15):c.562dup (p.Cys188fs)	COX15 (C188fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2809160	NM_078470.6(COX15):c.832+17C>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808559	NM_078470.6(COX15):c.988-14T>C	COX15 (L331P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2806453	NM_078470.6(COX15):c.987+1G>A	COX15	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2805308	NM_078470.6(COX15):c.1074G>A (p.Val358=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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