ClinVar for Gene (Select 9439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253145	NM_004830.4(MED23):c.1271C>A (p.Ala424Glu)	MED23 (A339E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3245971	NC_000006.11:g.(?_131894423)_(131905048_?)del	ARG1, MED23	Deletion	Arginase deficiency	GPathogenic
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3240321	NM_000045.4(ARG1):c.541_542del (p.Asp181fs)	ARG1, MED23 (D181fs +1 more)	Microsatellite (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 3128433	NM_000045.4(ARG1):c.520A>G (p.Ile174Val)	ARG1, MED23 (I174V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3125024	NM_004830.4(MED23):c.4014G>A (p.Met1338Ile)	MED23 (M1281I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125023	NM_004830.4(MED23):c.3967C>A (p.Pro1323Thr)	MED23 (P1276T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125022	NM_004830.4(MED23):c.3583G>A (p.Ala1195Thr)	MED23 (A1149T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125021	NM_004830.4(MED23):c.3424A>T (p.Ile1142Phe)	MED23 (I1057F +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125020	NM_004830.4(MED23):c.3088A>G (p.Ile1030Val)	MED23 (I1012V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125019	NM_004830.4(MED23):c.3035A>G (p.Tyr1012Cys)	MED23 (Y1012C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125018	NM_004830.4(MED23):c.2213C>G (p.Pro738Arg)	MED23 (P738R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125017	NM_004830.4(MED23):c.2119A>G (p.Ile707Val)	MED23 (I622V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067731	NM_004830.4(MED23):c.818T>A (p.Val273Glu)	MED23 (V249E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065590	NM_000045.4(ARG1):c.316G>A (p.Gly106Arg)	ARG1, MED23 (G106R +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic
Select item 3065162	NM_004830.4(MED23):c.3982C>A (p.Arg1328Ser)	MED23 (R1199S +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 3062941	GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3	AKAP7, ARG1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060586	NM_004830.4(MED23):c.40-7_40-5dup	MED23	Duplication (intron variant)	MED23-related disorder	GLikely benign
Select item 3049824	NM_004830.4(MED23):c.1077+5G>A	MED23	Single nucleotide variant (intron variant)	MED23-related disorder	GLikely benign
Select item 3023755	NM_000045.4(ARG1):c.306-10dup	ARG1, MED23	Duplication (intron variant)	Arginase deficiency	GBenign
Select item 3016241	NM_000045.4(ARG1):c.465+9C>T	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 3013141	NM_000045.4(ARG1):c.877G>C (p.Val293Leu)	ARG1, MED23 (V301L +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 3001052	NM_000045.4(ARG1):c.665+20G>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2995507	NM_000045.4(ARG1):c.111T>C (p.Leu37=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2992391	NM_000045.4(ARG1):c.884C>A (p.Thr295Lys)	ARG1, MED23 (T303K +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 2990665	NM_000045.4(ARG1):c.466-13A>T	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2981049	NM_000045.4(ARG1):c.665+13TG[3]	ARG1, MED23	Microsatellite (intron variant)	Arginase deficiency	GLikely benign
Select item 2980910	NM_000045.4(ARG1):c.493dup (p.Val165fs)	ARG1, MED23 (V173fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2957068	NM_000045.4(ARG1):c.306-12T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2913381	NM_000045.4(ARG1):c.665+18G>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2912554	NM_000045.4(ARG1):c.58-16T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2911121	NM_000045.4(ARG1):c.760T>C (p.Tyr254His)	ARG1, MED23 (Y169H +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 2910205	NM_000045.4(ARG1):c.877del (p.Thr292_Val293insTer)	ARG1, MED23	Deletion (nonsense +2 more)	Arginase deficiency	GPathogenic
Select item 2905969	NM_000045.4(ARG1):c.924G>T (p.Arg308=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2902222	NM_000045.4(ARG1):c.87A>C (p.Thr29=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2899668	NM_000045.4(ARG1):c.144G>A (p.Lys48=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2898195	NM_000045.4(ARG1):c.927G>A (p.Glu309=)	MED23, ARG1	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2895651	NM_000045.4(ARG1):c.665+23_665+36del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GLikely benign
Select item 2890875	NM_000045.4(ARG1):c.560+19G>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2877868	NM_000045.4(ARG1):c.305+16T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2873406	NM_000045.4(ARG1):c.357A>C (p.Gly119=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2870563	NM_000045.4(ARG1):c.306-11T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2866149	NM_000045.4(ARG1):c.326_353del (p.Ser109fs)	ARG1, MED23 (S117fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2864370	NM_000045.4(ARG1):c.131-19C>G	ARG1, MED23 (Q46E)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GLikely benign
Select item 2855496	NM_000045.4(ARG1):c.462A>G (p.Gly154=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2849854	NM_000045.4(ARG1):c.918T>C (p.Leu306=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2847336	NM_000045.4(ARG1):c.336C>G (p.Ala112=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2846330	NM_000045.4(ARG1):c.141G>A (p.Val47=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2845490	NM_000045.4(ARG1):c.459dup (p.Gly154fs)	ARG1, MED23 (G162fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2844885	NM_000045.4(ARG1):c.375T>G (p.Ala125=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2843268	NM_000045.4(ARG1):c.664A>G (p.Arg222Gly)	ARG1, MED23 (R230G +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 2841885	NM_000045.4(ARG1):c.264G>A (p.Lys88=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2840390	NM_000045.4(ARG1):c.560+15T>C	MED23, ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2838660	NM_000045.4(ARG1):c.321C>T (p.Ser107=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2837007	NM_000045.4(ARG1):c.131-14C>T	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2831245	NM_000045.4(ARG1):c.131-1G>T	ARG1, MED23 (E52*)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2821709	NM_000045.4(ARG1):c.58-2A>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2821609	NM_000045.4(ARG1):c.803-20A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2814615	NM_000045.4(ARG1):c.817T>C (p.Leu273=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2813080	NM_000045.4(ARG1):c.130+20del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GBenign
Select item 2812737	NM_000045.4(ARG1):c.666-13C>T	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2805862	NM_000045.4(ARG1):c.306-9C>T	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2803908	NM_000045.4(ARG1):c.447G>C (p.Leu149=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2801002	NM_000045.4(ARG1):c.399G>A (p.Leu133=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2792758	NM_000045.4(ARG1):c.657A>G (p.Leu219=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2792398	NM_000045.4(ARG1):c.330C>A (p.Gly110=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2791893	NM_000045.4(ARG1):c.252G>A (p.Val84=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2791563	NM_000045.4(ARG1):c.665+19T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2791113	NM_000045.4(ARG1):c.802+9C>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2785492	NM_000045.4(ARG1):c.306-1_307dup	ARG1, MED23	Duplication (splice acceptor variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2773240	NM_000045.4(ARG1):c.261C>A (p.Val87=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2769201	NM_000045.4(ARG1):c.802+12T>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2748992	NM_000045.4(ARG1):c.665+7T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2747906	NM_000045.4(ARG1):c.171C>T (p.Asp57=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2747770	NM_000045.4(ARG1):c.803-17A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2746384	NM_000045.4(ARG1):c.457_465+18del	ARG1, MED23	Deletion (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2745441	NM_000045.4(ARG1):c.561-20T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2744200	NM_000045.4(ARG1):c.131-9T>A	ARG1, MED23 (L49*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency	GLikely benign
Select item 2741550	NM_000045.4(ARG1):c.513C>T (p.Ala171=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2739785	NM_000045.4(ARG1):c.305+11A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2737122	NM_000045.4(ARG1):c.429A>G (p.Gln143=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2733485	NM_000045.4(ARG1):c.648C>T (p.Leu216=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2726024	NM_000045.4(ARG1):c.306-15T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2711341	NM_000045.4(ARG1):c.802+15_802+19del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GLikely benign
Select item 2710716	NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)	ARG1, MED23 (F155fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2707030	NM_000045.4(ARG1):c.561-12TC[4]	ARG1, MED23	Microsatellite (intron variant)	Arginase deficiency	GLikely benign
Select item 2706273	NM_000045.4(ARG1):c.795C>T (p.Tyr265=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2703547	NM_000045.4(ARG1):c.837C>T (p.Asn279=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2702868	NM_000045.4(ARG1):c.876A>T (p.Thr292=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2700869	NM_000045.4(ARG1):c.876A>G (p.Thr292=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684455	GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3	ARG1, CTAGE9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2678317	NM_000045.4(ARG1):c.829del (p.Glu277fs)	ARG1, MED23 (E192fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678314	NM_000045.4(ARG1):c.465+1G>A	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678313	NM_000045.4(ARG1):c.707dup (p.Asp237fs)	ARG1, MED23 (D152fs +2 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2678312	NM_000045.4(ARG1):c.700G>C (p.Asp234His)	ARG1, MED23 (D149H +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic

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