ClinVar for Gene (Select 64087) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, BDP1 +40 more	Copy number loss	See cases	GPathogenic
Select item 3124204	NM_022132.5(MCCC2):c.911T>C (p.Ile304Thr)	MCCC2 (I266T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124203	NM_022132.5(MCCC2):c.281G>T (p.Gly94Val)	MCCC2 (G94V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124202	NM_022132.5(MCCC2):c.1451C>T (p.Thr484Met)	MCCC2 (T446M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065679	NM_022132.5(MCCC2):c.1511C>T (p.Ala504Val)	MCCC2 (A466V +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 3065205	NM_022132.5(MCCC2):c.1151del	MCCC2	Deletion (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 3064987	NM_022132.5(MCCC2):c.224A>G (p.His75Arg)	MCCC2 (H75R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 3064141	NM_022132.5(MCCC2):c.1147A>T (p.Lys383Ter)	MCCC2 (K345* +1 more)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 3061877	NM_022132.5(MCCC2):c.625-11T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 3057274	NM_022132.5(MCCC2):c.1094A>T (p.Tyr365Phe)	MCCC2 (Y327F +1 more)	Single nucleotide variant (missense variant)	MCCC2-related condition	GUncertain significance
Select item 3055932	NM_022132.5(MCCC2):c.1131T>C (p.Phe377=)	MCCC2	Single nucleotide variant (synonymous variant)	MCCC2-related condition	GLikely benign
Select item 3024953	NM_022132.5(MCCC2):c.999+854T>A	MCCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3020449	NM_022132.5(MCCC2):c.1217-16C>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3019009	NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)	MCCC2 (S506N +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 3018762	NM_022132.5(MCCC2):c.1374-15C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3018169	NM_022132.5(MCCC2):c.803+14G>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3016251	NM_022132.5(MCCC2):c.1000-17G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3003055	NM_022132.5(MCCC2):c.747G>A (p.Ala249=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3002053	NM_022132.5(MCCC2):c.9C>A (p.Ala3=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3001682	NM_022132.5(MCCC2):c.130-20C>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3000925	NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)	MCCC2 (E215fs +1 more)	Insertion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2990446	NM_022132.5(MCCC2):c.1575-10C>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2990260	NM_022132.5(MCCC2):c.630A>C (p.Ala210=)	MCCC2	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2979266	NM_022132.5(MCCC2):c.945T>C (p.Asp315=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2977698	NM_022132.5(MCCC2):c.1373+16T>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2968555	NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)	MCCC2 (L41R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2965424	NM_022132.5(MCCC2):c.966T>G (p.Gly322=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2955681	NM_022132.5(MCCC2):c.1150-17A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2920547	NM_022132.5(MCCC2):c.342G>A (p.Val114=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2919974	NM_022132.5(MCCC2):c.1488+15C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2918290	NM_022132.5(MCCC2):c.511+14G>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2915435	NM_022132.5(MCCC2):c.1216+12G>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2914723	NM_022132.5(MCCC2):c.282-15C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2912653	NM_022132.5(MCCC2):c.753T>G (p.Thr251=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2911564	NM_022132.5(MCCC2):c.739-11C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2910775	NM_022132.5(MCCC2):c.904-15T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2910126	NM_022132.5(MCCC2):c.567C>T (p.Asp189=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2903439	NM_022132.5(MCCC2):c.511+20A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2902534	NM_022132.5(MCCC2):c.511+13A>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2902181	NM_022132.5(MCCC2):c.903+20A>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2901660	NM_022132.5(MCCC2):c.720C>T (p.Phe240=)	MCCC2	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2899900	NM_022132.5(MCCC2):c.876G>A (p.Arg292=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2899407	NM_022132.5(MCCC2):c.1216+19del	MCCC2	Deletion (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2894845	NM_022132.5(MCCC2):c.1072+14G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2893269	NM_022132.5(MCCC2):c.625-18C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2889397	NM_022132.5(MCCC2):c.1574+15A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2887486	NM_022132.5(MCCC2):c.861T>G (p.Thr287=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2885106	NM_022132.5(MCCC2):c.1217-6_1217-3del	MCCC2	Microsatellite (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2884874	NM_022132.5(MCCC2):c.183G>A (p.Glu61=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2884249	NM_022132.5(MCCC2):c.129+17G>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2883658	NM_022132.5(MCCC2):c.1217-16C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2883033	NM_022132.5(MCCC2):c.196+19C>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2883032	NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA	MCCC2	Insertion (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2882693	NM_022132.5(MCCC2):c.624+15A>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2881371	NM_022132.5(MCCC2):c.423A>G (p.Lys141=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2880711	NM_022132.5(MCCC2):c.175C>A (p.Arg59=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2879403	NM_022132.5(MCCC2):c.804-4G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2877944	NM_022132.5(MCCC2):c.117T>C (p.Ser39=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2871586	NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)	MCCC2 (W2fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2868871	NM_022132.5(MCCC2):c.69del (p.His24fs)	MCCC2 (H24fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2865941	NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)	MCCC2 (F185S)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2859999	NM_022132.5(MCCC2):c.511+11A>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2857778	NM_022132.5(MCCC2):c.735del (p.Leu246fs)	MCCC2 (L246fs)	Deletion (intron variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2857446	NM_022132.5(MCCC2):c.789del (p.Asp264fs)	MCCC2 (D264fs +1 more)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2851631	NM_022132.5(MCCC2):c.904-2A>T	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2848070	NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2844438	NM_022132.5(MCCC2):c.903+4A>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2838638	NM_022132.5(MCCC2):c.511+10del	MCCC2	Deletion (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2835419	NM_022132.5(MCCC2):c.624+15A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2831962	NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter)	MCCC2 (Q458* +1 more)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2830679	NM_022132.5(MCCC2):c.1575-15_1575-14del	MCCC2	Deletion (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GBenign
Select item 2824555	NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)	MCCC2 (V283A +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2822313	NM_022132.5(MCCC2):c.129+7T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2820043	NM_022132.5(MCCC2):c.625-15G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2817265	NM_022132.5(MCCC2):c.903+2T>G	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2814640	NM_022132.5(MCCC2):c.803+13T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2812084	NM_022132.5(MCCC2):c.795T>G (p.Leu265=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2810034	NM_022132.5(MCCC2):c.129+10G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2806389	NM_022132.5(MCCC2):c.948A>G (p.Glu316=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2803703	NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)	MCCC2 (P224T)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2795506	NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2794959	NM_022132.5(MCCC2):c.903+13T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2792581	NM_022132.5(MCCC2):c.904-16A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2781761	NM_022132.5(MCCC2):c.738+11A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2770068	NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2770037	NM_022132.5(MCCC2):c.1488+8T>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2770029	NM_022132.5(MCCC2):c.281+14C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2768644	NM_022132.5(MCCC2):c.663del (p.Tyr222fs)	MCCC2 (Y222fs)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2763683	NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)	MCCC2 (S406Y +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2762976	NM_022132.5(MCCC2):c.511+1G>T	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2759093	NM_022132.5(MCCC2):c.1488+18T>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2751246	NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)	MCCC2 (G314V +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2746807	NM_022132.5(MCCC2):c.690C>T (p.Asn230=)	MCCC2	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2745629	NM_022132.5(MCCC2):c.130-16T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2745376	NM_022132.5(MCCC2):c.156A>G (p.Leu52=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2737476	NM_022132.5(MCCC2):c.129+8G>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2735732	NM_022132.5(MCCC2):c.512-19T>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2734731	NM_022132.5(MCCC2):c.282-1G>C	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2734349	NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign

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