ClinVar for MedGen (Select 436367) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 505

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243810	NC_000015.9:g.(?_45661504)_(45670651_?)del	GATM	Deletion	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 3022676	NM_001482.3(GATM):c.1245A>G (p.Arg415=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 3017906	NM_001482.3(GATM):c.347C>T (p.Pro116Leu)	GATM (P116L)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 3016139	NM_001482.3(GATM):c.676-16T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 3011979	NM_001482.3(GATM):c.969A>G (p.Pro323=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 3008268	NM_001482.3(GATM):c.652A>G (p.Met218Val)	GATM (M89V +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 3001201	NM_001482.3(GATM):c.676-18C>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 3000694	NM_001482.3(GATM):c.69+1G>A	GATM, LOC130056991	Single nucleotide variant (intron variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely pathogenic
Select item 3000640	NM_001482.3(GATM):c.1248C>A (p.Gly416=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2995397	NM_001482.3(GATM):c.69+13C>G	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2991629	NM_001482.3(GATM):c.30G>A (p.Gly10=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2983448	NM_001482.3(GATM):c.1160G>A (p.Gly387Asp)	GATM (G387D +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2981392	NM_001482.3(GATM):c.249A>G (p.Ala83=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2968107	NM_001482.3(GATM):c.990C>T (p.Phe330=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2967992	NM_001482.3(GATM):c.1043-17G>A	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2959618	NM_001482.3(GATM):c.485-17A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2957686	NM_001482.3(GATM):c.1187G>A (p.Arg396His)	GATM (R396H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2919835	NM_001482.3(GATM):c.1196A>G (p.Asn399Ser)	GATM (N270S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2919769	NM_001482.3(GATM):c.280G>A (p.Glu94Lys)	GATM (E94K)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2918197	NM_001482.3(GATM):c.139C>A (p.Arg47=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2915309	NM_001482.3(GATM):c.450A>G (p.Ser150=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2913810	NM_001482.3(GATM):c.1201C>T (p.Leu401=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2911189	NM_001482.3(GATM):c.1042+14del	GATM	Deletion (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2909743	NM_001482.3(GATM):c.1043-12del	GATM	Deletion (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2908690	NM_001482.3(GATM):c.51G>A (p.Val17=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2908612	NM_001482.3(GATM):c.564A>C (p.Ser188=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2905912	NM_001482.3(GATM):c.778C>A (p.Arg260=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2904786	NM_001482.3(GATM):c.69+17C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2904355	NM_001482.3(GATM):c.219C>T (p.Asp73=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2903054	NM_001482.3(GATM):c.683C>G (p.Pro228Arg)	GATM (P228R +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2900497	NM_001482.3(GATM):c.77G>T (p.Arg26Leu)	GATM (R26L)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2900237	NM_001482.3(GATM):c.978+12C>A	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2897352	NM_001482.3(GATM):c.615C>T (p.His205=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2894990	NM_001482.3(GATM):c.123A>G (p.Ala41=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2890478	NM_001482.3(GATM):c.675+8C>A	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2889815	NM_001482.3(GATM):c.69+15G>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2887371	NM_001482.3(GATM):c.855T>C (p.Leu285=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2886629	NM_001482.3(GATM):c.880A>G (p.Ile294Val)	GATM (I294V +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2885070	NM_001482.3(GATM):c.979-12T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2881689	NM_001482.3(GATM):c.69+17C>G	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2878929	NM_001482.3(GATM):c.300T>C (p.Tyr100=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2866172	NM_001482.3(GATM):c.427A>C (p.Arg143=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2864123	NM_001482.3(GATM):c.992A>G (p.Lys331Arg)	GATM (K331R +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2863247	NM_001482.3(GATM):c.733G>A (p.Val245Met)	GATM (V245M +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2860507	NM_001482.3(GATM):c.1053C>T (p.Leu351=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2860315	NM_001482.3(GATM):c.892G>A (p.Asp298Asn)	GATM (D298N +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2851999	NM_001482.3(GATM):c.484+15A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2850245	NM_001482.3(GATM):c.207C>A (p.Tyr69Ter)	GATM (Y69*)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2849806	NM_001482.3(GATM):c.223T>C (p.Leu75=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2848736	NM_001482.3(GATM):c.588C>T (p.Tyr196=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2847843	NM_001482.3(GATM):c.485-8T>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2847160	NM_001482.3(GATM):c.792T>G (p.Asp264Glu)	GATM (D135E +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2845178	NM_001482.3(GATM):c.1143G>A (p.Lys381=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2844980	NM_001482.3(GATM):c.1079dup (p.Met360fs)	GATM (M360fs +1 more)	Duplication (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2844797	NM_001482.3(GATM):c.771C>T (p.Asp257=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2844270	NM_001482.3(GATM):c.1149T>C (p.Phe383=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2843022	NM_001482.3(GATM):c.191G>T (p.Cys64Phe)	GATM (C64F)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2842677	NM_001482.3(GATM):c.551del (p.Met184fs)	GATM (M184fs +1 more)	Deletion (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2842191	NM_001482.3(GATM):c.1079T>C (p.Met360Thr)	GATM (M231T +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2841262	NM_001482.3(GATM):c.741T>C (p.Thr247=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2840163	NM_001482.3(GATM):c.1043-19_1043-18del	GATM	Deletion (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2839585	NM_001482.3(GATM):c.798T>G (p.Phe266Leu)	GATM (F137L +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2838573	NM_001482.3(GATM):c.1160-17T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2837468	NM_001482.3(GATM):c.882C>T (p.Ile294=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2837310	NM_001482.3(GATM):c.979-19del	GATM	Deletion (intron variant)	Arginine:glycine amidinotransferase deficiency	GBenign
Select item 2836755	NM_001482.3(GATM):c.14G>T (p.Arg5Leu)	GATM, LOC130056991 (R5L)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2836363	NM_001482.3(GATM):c.76C>T (p.Arg26Ter)	GATM (R26*)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2836096	NM_001482.3(GATM):c.905T>C (p.Met302Thr)	GATM (M173T +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2835540	NM_001482.3(GATM):c.484+11T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2834918	NM_001482.3(GATM):c.759T>C (p.Phe253=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2834057	NM_001482.3(GATM):c.30G>C (p.Gly10=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2833584	NM_001482.3(GATM):c.516G>T (p.Leu172=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2829366	NM_001482.3(GATM):c.1110T>C (p.Val370=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2827118	NM_001482.3(GATM):c.297A>T (p.Thr99=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2826994	NM_001482.3(GATM):c.979-19dup	GATM	Duplication (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2821765	NM_001482.3(GATM):c.70-19T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2821630	NM_001482.3(GATM):c.56A>G (p.Tyr19Cys)	GATM, LOC130056991 (Y19C)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2819994	NM_001482.3(GATM):c.676-27GT[3]	GATM	Microsatellite (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2814561	NM_001482.3(GATM):c.448T>G (p.Ser150Ala)	GATM (S150A +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2813180	NM_001482.3(GATM):c.70-20C>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2811122	NM_001482.3(GATM):c.484+13A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2810771	NM_001482.3(GATM):c.63A>T (p.Gly21=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2805817	NM_001482.3(GATM):c.271T>A (p.Phe91Ile)	GATM (F91I)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2801855	NM_001482.3(GATM):c.18T>C (p.Cys6=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2799740	NM_001482.3(GATM):c.41_48dup (p.Val17fs)	LOC130056991, GATM (V17fs)	Duplication (frameshift variant +1 more)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2798673	NM_001482.3(GATM):c.693T>C (p.Ser231=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2797642	NM_001482.3(GATM):c.69+20C>A	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2796447	NM_001482.3(GATM):c.1043-10C>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2793358	NM_001482.3(GATM):c.566G>T (p.Arg189Leu)	GATM (R60L +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2791871	NM_001482.3(GATM):c.289-6T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2791327	NM_001482.3(GATM):c.1227C>G (p.Thr409=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2790293	NM_001482.3(GATM):c.108C>T (p.Phe36=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2785413	NM_001482.3(GATM):c.288+11G>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2784006	NM_001482.3(GATM):c.438C>T (p.Pro146=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2783986	NM_001482.3(GATM):c.120G>C (p.Gln40His)	GATM (Q40H)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2783013	NM_001482.3(GATM):c.634A>G (p.Thr212Ala)	GATM (T83A +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2782664	NM_001482.3(GATM):c.1118A>G (p.Asp373Gly)	GATM (D244G +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2771354	NM_001482.3(GATM):c.69+10C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2771262	NM_001482.3(GATM):c.663G>A (p.Glu221=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2770384	NM_001482.3(GATM):c.39C>A (p.Gly13=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign

<< First< Prev

Page of 6