ClinVar for MedGen (Select 78688) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 499

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3023755	NM_000045.4(ARG1):c.306-10dup	ARG1, MED23	Duplication (intron variant)	Arginase deficiency	GBenign
Select item 3023083	NM_000045.4(ARG1):c.57+12A>G	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
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)	MED23, ARG1 (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 2904388	NM_000045.4(ARG1):c.57+20T>C	ARG1	Single nucleotide variant (intron variant)	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=)	ARG1, MED23	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 2876699	NM_000045.4(ARG1):c.57+12A>T	ARG1	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 2863052	NM_000045.4(ARG1):c.9C>G (p.Ala3=)	ARG1	Single nucleotide variant (synonymous 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 2850282	NM_000045.4(ARG1):c.54A>G (p.Gly18=)	ARG1	Single nucleotide variant (synonymous variant +1 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	ARG1, MED23	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 (intron variant +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 2713318	NM_000045.4(ARG1):c.42T>G (p.Pro14=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	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
Select item 2710297	NM_000045.4(ARG1):c.57+7A>G	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
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 2695035	NM_000045.4(ARG1):c.57+18dup	ARG1	Duplication (intron variant)	Arginase deficiency	GLikely benign
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
Select item 2678311	NM_000045.4(ARG1):c.603del (p.Glu202fs)	ARG1, MED23 (E117fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2678306	NM_000045.4(ARG1):c.679dup (p.Ile227fs)	ARG1, MED23 (I142fs +2 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678300	NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)	ARG1, MED23 (D117fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2678298	NM_000045.4(ARG1):c.70dup (p.Val24fs)	ARG1, MED23 (V24fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678295	NM_000045.4(ARG1):c.295_301del (p.Gly99fs)	ARG1, MED23 (G107fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678287	NM_000045.4(ARG1):c.666-2A>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678286	NM_000045.4(ARG1):c.633del (p.Met212fs)	ARG1, MED23 (M127fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678282	NM_000045.4(ARG1):c.232dup (p.Glu78fs)	ARG1, MED23 (E78fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2678266	NM_000045.4(ARG1):c.802+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678250	NM_000045.4(ARG1):c.131-8_131-2del	ARG1, MED23 (I50fs)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678237	NM_000045.4(ARG1):c.815del (p.Gly272fs)	ARG1, MED23 (G187fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678232	NM_000045.4(ARG1):c.374C>T (p.Ala125Val)	ARG1, MED23 (A125V +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678221	NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)	ARG1, MED23 (W164* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic
Select item 2671747	NM_000045.4(ARG1):c.103G>A (p.Gly35Ser)	ARG1, MED23 (G35S)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2422190	NC_000006.11:g.(?_131902339)_(131905048_?)dup	ARG1, MED23	Duplication	Arginase deficiency	GUncertain significance
Select item 2422189	NC_000006.11:g.(?_131900217)_(131902528_?)del	MED23, ARG1	Deletion	Arginase deficiency	GPathogenic

<< First< Prev

Page of 5