ClinVar for Gene (Select 81570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382357	NM_001258392.3(CLPB):c.760G>T (p.Glu254Ter)	CLPB (E225* +3 more)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 9, autosomal dominant +2 more	GLikely pathogenic
Select item 3381070	NM_001258392.3(CLPB):c.622G>T (p.Glu208Ter)	CLPB (E163* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3377673	NM_001258392.3(CLPB):c.1486+6del	CLPB	Deletion (intron variant)	3-methylglutaconic aciduria, type VIIA	GUncertain significance
Select item 3377209	NM_001258392.3(CLPB):c.31G>A (p.Ala11Thr)	CLPB, LOC130006336 (A11T)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 3376825	NM_001258392.3(CLPB):c.1318C>A (p.Leu440Met)	CLPB, LOC126861258 (L411M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIA	GUncertain significance
Select item 3375051	NM_001258392.3(CLPB):c.1547G>A (p.Arg516His)	CLPB (R487H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373423	NM_001258392.3(CLPB):c.917G>T (p.Arg306Leu)	CLPB (R277L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372514	NM_001258392.3(CLPB):c.1002G>C (p.Lys334Asn)	CLPB (K305N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365663	NM_001258392.3(CLPB):c.1100A>G (p.Tyr367Cys)	CLPB (Y338C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364240	NM_001258392.3(CLPB):c.788T>C (p.Leu263Pro)	CLPB (L234P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359506	NM_001258392.3(CLPB):c.833A>G (p.Glu278Gly)	CLPB (E249G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349783	NM_030813.6(CLPB):c.653G>T (p.Gly218Val)	CLPB (G173V +1 more)	Single nucleotide variant (missense variant +1 more)	CLPB-related disorder	GUncertain significance
Select item 3348582	NM_001258392.3(CLPB):c.1785+5G>A	CLPB	Single nucleotide variant (intron variant)	CLPB-related disorder	GLikely benign
Select item 3348294	NM_001258392.3(CLPB):c.1960G>C (p.Asp654His)	CLPB (D625H +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder	GUncertain significance
Select item 3341069	NM_001258392.3(CLPB):c.979G>T (p.Val327Leu)	CLPB (V298L +3 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 9, autosomal dominant	GUncertain significance
Select item 3267839	NM_001258392.3(CLPB):c.994C>T (p.Arg332Trp)	CLPB (R332W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239231	NM_001258392.3(CLPB):c.33A>G (p.Ala11=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3236439	NM_001258392.3(CLPB):c.374A>G (p.His125Arg)	CLPB (H125R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIA	GUncertain significance
Select item 3145954	NM_001258392.3(CLPB):c.782A>G (p.Asn261Ser)	CLPB (N232S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145952	NM_001258392.3(CLPB):c.761A>C (p.Glu254Ala)	CLPB (E239A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145951	NM_001258392.3(CLPB):c.722A>T (p.His241Leu)	CLPB (H212L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145950	NM_001258392.3(CLPB):c.1455G>T (p.Glu485Asp)	CLPB (E470D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031220	NM_001258392.3(CLPB):c.964A>G (p.Ser322Gly)	CLPB (S293G +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder	GUncertain significance
Select item 3024993	NM_030813.6(CLPB):c.676A>G (p.Ile226Val)	CLPB (I181V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020480	NM_001258392.3(CLPB):c.378C>T (p.Cys126=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3019372	NM_001258392.3(CLPB):c.1167+10G>A	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3018160	NM_001258392.3(CLPB):c.646+7369C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3013312	NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)	CLPB (M368V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 3009707	NM_001258392.3(CLPB):c.897T>G (p.Arg299=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3009385	NM_001258392.3(CLPB):c.646+7375A>G	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3003844	NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)	CLPB (A296T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 3003580	NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)	LOC130006336, CLPB (R77G)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 3002667	NM_001258392.3(CLPB):c.646+7367del	CLPB	Deletion (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2994081	NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)	CLPB, LOC130006336 (W12C +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2990825	NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)	CLPB, LOC126861258 (G373A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2987753	NM_001258392.3(CLPB):c.874-10C>G	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2983435	NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)	CLPB, LOC130006336 (W12* +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2982908	NM_001258392.3(CLPB):c.669C>T (p.Asp223=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2982086	NM_001258392.3(CLPB):c.1486+8G>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2971990	NM_001258392.3(CLPB):c.942G>A (p.Lys314=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2970320	NM_001258392.3(CLPB):c.403+15T>G	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2966753	NM_001258392.3(CLPB):c.795G>A (p.Arg265=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2965236	NM_001258392.3(CLPB):c.404-14C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2965016	NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2962544	NM_001258392.3(CLPB):c.972C>T (p.Ile324=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2961804	NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2956180	NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)	CLPB (H373Y +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2919714	NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)	CLPB (P292T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2918582	NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)	CLPB (Y579C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2910669	NM_001258392.3(CLPB):c.491A>G (p.His164Arg)	CLPB (H119R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2908510	NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)	CLPB (R674H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2905598	NM_001258392.3(CLPB):c.646+7372T>C	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2904257	NM_030813.6(CLPB):c.693A>C (p.Thr231=)	CLPB	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2902096	NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2900403	NM_001258392.3(CLPB):c.1681-3C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2893413	NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)	CLPB (P608R +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2889912	NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)	CLPB (V571A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2889301	NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)	CLPB, LOC126861258 (V372I +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2883920	NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)	CLPB (S200N +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2883867	NM_001258392.3(CLPB):c.1067-20T>C	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2881892	NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)	CLPB, LOC130006336 (G71E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2878309	NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)	CLPB (A444T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2877831	NM_030813.6(CLPB):c.666A>C (p.Ala222=)	CLPB	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2876473	NM_001258392.3(CLPB):c.1123-18T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2876021	NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)	CLPB, LOC130006336 (R73S)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2875917	NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)	CLPB (S151N)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2874792	NM_001258392.3(CLPB):c.315C>T (p.Asn105=)	CLPB, LOC130006336 (R25W)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2873736	NM_001258392.3(CLPB):c.404-17G>C	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2869599	NM_001258392.3(CLPB):c.759G>A (p.Lys253=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2869088	NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)	CLPB (I683M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2864257	NM_001258392.3(CLPB):c.1168-3C>G	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2860113	NM_001258392.3(CLPB):c.1299G>C (p.Val433=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2858644	NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)	CLPB (C208G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2852555	NM_001258392.3(CLPB):c.1681-17T>C	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2852121	NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)	CLPB, LOC130006336 (L91F +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2849801	NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)	CLPB (Q670H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2846363	NM_001258392.3(CLPB):c.988+16A>G	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2843647	NM_001258392.3(CLPB):c.1122+11G>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2838852	NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)	CLPB, LOC126861258 (V418M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2837392	NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)	CLPB (E313K +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2832531	NM_001258392.3(CLPB):c.404-17G>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2832530	NM_001258392.3(CLPB):c.1123-13T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2828970	NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)	CLPB, LOC126861258 (I394T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2823908	NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)	CLPB (A119S +1 more)	Indel (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2817956	NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)	CLPB (Y127C)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2814562	NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)	CLPB (A136T +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2812994	NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)	CLPB (L230V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2812245	NM_001258392.3(CLPB):c.1137G>A (p.Leu379=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2810270	NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)	CLPB (N569D +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2809996	NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)	CLPB (P655fs +3 more)	Deletion (frameshift variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2809514	NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)	CLPB, LOC130006336 (G53A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2809209	NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)	CLPB (D433fs +3 more)	Deletion (frameshift variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 2804908	NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)	CLPB, LOC130006336 (A32V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2804505	NM_001258392.3(CLPB):c.1167+9T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2798332	NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)	CLPB (L314F +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2797133	NM_001258392.3(CLPB):c.654C>T (p.Ile218=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2796813	NM_001258392.3(CLPB):c.542+13C>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2795805	NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)	CLPB (N533S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2792772	NM_001258392.3(CLPB):c.1122+16T>G	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2791411	NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign

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