ClinVar for Gene (Select 4330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369559	NM_002430.3(MN1):c.2347G>A (p.Gly783Ser)	MN1 (G783S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369250	NM_002430.3(MN1):c.3724G>A (p.Asp1242Asn)	MN1 (D1242N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367549	NM_002430.3(MN1):c.2560C>T (p.Pro854Ser)	MN1 (P854S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366261	NM_002430.3(MN1):c.2338G>T (p.Gly780Cys)	MN1 (G780C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365611	NM_002430.3(MN1):c.2218C>G (p.Leu740Val)	MN1 (L740V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365549	NM_002430.3(MN1):c.3611C>G (p.Ser1204Cys)	MN1 (S1204C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365243	NM_002430.3(MN1):c.3313C>G (p.Leu1105Val)	MN1 (L1105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365119	NM_002430.3(MN1):c.2539A>G (p.Thr847Ala)	MN1 (T847A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364270	NM_002430.3(MN1):c.3767C>G (p.Pro1256Arg)	MN1 (P1256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363904	NM_002430.3(MN1):c.3014T>C (p.Leu1005Pro)	MN1 (L1005P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363853	NM_002430.3(MN1):c.2662C>T (p.Pro888Ser)	MN1 (P888S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363239	NM_002430.3(MN1):c.2044G>A (p.Glu682Lys)	MN1 (E682K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361585	NM_002430.3(MN1):c.136G>A (p.Gly46Ser)	MN1 (G46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360667	NM_002430.3(MN1):c.3559G>A (p.Val1187Ile)	MN1 (V1187I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360171	NM_002430.3(MN1):c.760G>A (p.Gly254Arg)	MN1 (G254R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360075	NM_002430.3(MN1):c.2364G>T (p.Gln788His)	MN1 (Q788H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359847	NM_002430.3(MN1):c.1348T>A (p.Tyr450Asn)	MN1 (Y450N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359803	NM_002430.3(MN1):c.3647T>G (p.Leu1216Arg)	MN1 (L1216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359319	NM_002430.3(MN1):c.712G>A (p.Glu238Lys)	MN1 (E238K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357365	NM_002430.3(MN1):c.3588C>G (p.Asp1196Glu)	MN1 (D1196E)	Single nucleotide variant (missense variant)	MN1-related disorder	GLikely benign
Select item 3356227	NM_002430.3(MN1):c.2566G>A (p.Gly856Ser)	MN1 (G856S)	Single nucleotide variant (missense variant)	MN1-related disorder	GUncertain significance
Select item 3352095	NM_002430.3(MN1):c.1059G>T (p.Pro353=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3347631	NM_002430.3(MN1):c.1079A>C (p.Gln360Pro)	MN1 (Q360P)	Single nucleotide variant (missense variant)	MN1-related disorder	GUncertain significance
Select item 3343764	NM_002430.3(MN1):c.3480C>G (p.Ile1160Met)	MN1 (I1160M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343667	NM_002430.3(MN1):c.3943T>C (p.Phe1315Leu)	MN1 (F1315L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343482	NM_002430.3(MN1):c.2093C>T (p.Pro698Leu)	MN1 (P698L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342705	NM_002430.3(MN1):c.2447A>G (p.Lys816Arg)	MN1 (K816R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337292	NM_002430.3(MN1):c.2440A>T (p.Ser814Cys)	MN1 (S814C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337291	NM_002430.3(MN1):c.3068A>G (p.Asp1023Gly)	MN1 (D1023G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295412	NM_002430.3(MN1):c.3074T>C (p.Ile1025Thr)	MN1 (I1025T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295410	NM_002430.3(MN1):c.2838A>T (p.Arg946Ser)	MN1 (R946S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295409	NM_002430.3(MN1):c.3881C>A (p.Ala1294Asp)	MN1 (A1294D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295408	NM_002430.3(MN1):c.631G>T (p.Gly211Cys)	MN1 (G211C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295407	NM_002430.3(MN1):c.3382G>A (p.Gly1128Ser)	MN1 (G1128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295406	NM_002430.3(MN1):c.2867G>T (p.Gly956Val)	MN1 (G956V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295405	NM_002430.3(MN1):c.3815C>T (p.Ser1272Phe)	MN1 (S1272F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295404	NM_002430.3(MN1):c.130C>G (p.Pro44Ala)	MN1 (P44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295403	NM_002430.3(MN1):c.1034C>G (p.Pro345Arg)	MN1 (P345R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295402	NM_002430.3(MN1):c.1900G>C (p.Gly634Arg)	MN1 (G634R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257544	NM_002430.3(MN1):c.2876T>C (p.Phe959Ser)	MN1 (F959S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252391	NM_002430.3(MN1):c.2239C>G (p.Pro747Ala)	MN1 (P747A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250473	NM_002430.3(MN1):c.2287G>A (p.Val763Met)	MN1 (V763M)	Single nucleotide variant (missense variant)	CEBALID syndrome	GUncertain significance
Select item 3239061	NM_002430.3(MN1):c.3873C>T (p.Asp1291=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3181678	NM_002430.3(MN1):c.873G>C (p.Gln291His)	MN1 (Q291H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181648	NM_002430.3(MN1):c.868G>T (p.Ala290Ser)	MN1 (A290S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181613	NM_002430.3(MN1):c.846G>C (p.Met282Ile)	MN1 (M282I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181562	NM_002430.3(MN1):c.788G>T (p.Arg263Leu)	MN1 (R263L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181461	NM_002430.3(MN1):c.496G>T (p.Gly166Cys)	MN1 (G166C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3181332	NM_002430.3(MN1):c.388G>C (p.Gly130Arg)	MN1 (G130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181282	NM_002430.3(MN1):c.3865G>A (p.Val1289Met)	MN1 (V1289M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181214	NM_002430.3(MN1):c.3739C>G (p.Pro1247Ala)	MN1 (P1247A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181170	NM_002430.3(MN1):c.370G>A (p.Gly124Arg)	MN1 (G124R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181039	NM_002430.3(MN1):c.358G>T (p.Gly120Cys)	MN1 (G120C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180892	NM_002430.3(MN1):c.347G>T (p.Gly116Val)	MN1 (G116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180679	NM_002430.3(MN1):c.328C>T (p.His110Tyr)	MN1 (H110Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180617	NM_002430.3(MN1):c.3254C>T (p.Pro1085Leu)	MN1 (P1085L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180586	NM_002430.3(MN1):c.3251T>G (p.Leu1084Arg)	MN1 (L1084R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180515	NM_002430.3(MN1):c.3160G>A (p.Ala1054Thr)	MN1 (A1054T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180483	NM_002430.3(MN1):c.3141C>A (p.Asp1047Glu)	MN1 (D1047E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180362	NM_002430.3(MN1):c.2882A>G (p.Lys961Arg)	MN1 (K961R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180322	NM_002430.3(MN1):c.284A>T (p.Gln95Leu)	MN1 (Q95L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180250	NM_002430.3(MN1):c.2725C>T (p.Pro909Ser)	MN1 (P909S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180231	NM_002430.3(MN1):c.2540C>A (p.Thr847Asn)	MN1 (T847N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180045	NM_002430.3(MN1):c.2278G>C (p.Gly760Arg)	MN1 (G760R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179970	NM_002430.3(MN1):c.2116C>A (p.Leu706Met)	MN1 (L706M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179908	NM_002430.3(MN1):c.2053A>G (p.Arg685Gly)	MN1 (R685G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179664	NM_002430.3(MN1):c.1627C>T (p.Gln543Ter)	MN1 (Q543*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3179578	NM_002430.3(MN1):c.1605_1631del (p.Gln542_Gln550del)	MN1	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 3179331	NM_002430.3(MN1):c.1423G>C (p.Gly475Arg)	MN1 (G475R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179288	NM_002430.3(MN1):c.136G>C (p.Gly46Arg)	MN1 (G46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179259	NM_002430.3(MN1):c.1357G>A (p.Val453Met)	MN1 (V453M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3179130	NM_002430.3(MN1):c.1082C>T (p.Pro361Leu)	MN1 (P361L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068095	NM_002430.3(MN1):c.912GCA[9] (p.Gln309_His310insGlnGlnGln)	MN1	Microsatellite (inframe_insertion)	CEBALID syndrome	GUncertain significance
Select item 3064799	NM_002430.3(MN1):c.704del (p.Tyr235fs)	MN1 (Y235fs)	Deletion (frameshift variant)	CEBALID syndrome	GUncertain significance
Select item 3063882	NM_002430.3(MN1):c.3048G>C (p.Leu1016Phe)	MN1 (L1016F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054834	NM_002430.3(MN1):c.193A>C (p.Met65Leu)	MN1 (M65L)	Single nucleotide variant (missense variant)	MN1-related disorder	GLikely benign
Select item 3053939	NM_002430.3(MN1):c.1071_1085del (p.Gln358_Pro362del)	MN1	Deletion	MN1-related disorder	GLikely benign
Select item 3051928	NM_002430.3(MN1):c.1944C>A (p.Gly648=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3051105	NM_002430.3(MN1):c.552C>T (p.His184=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3051020	NM_002430.3(MN1):c.1983C>G (p.Pro661=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047055	NM_002430.3(MN1):c.2003C>T (p.Pro668Leu)	MN1 (P668L)	Single nucleotide variant (missense variant)	MN1-related disorder	GLikely benign
Select item 3045513	NM_002430.3(MN1):c.1782G>A (p.Pro594=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3045067	NM_002430.3(MN1):c.3849C>T (p.Val1283=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3043302	NM_002430.3(MN1):c.2004G>A (p.Pro668=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3041449	NM_002430.3(MN1):c.3399G>A (p.Glu1133=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 3041130	NM_002430.3(MN1):c.284A>G (p.Gln95Arg)	MN1 (Q95R)	Single nucleotide variant (missense variant)	MN1-related disorder	GLikely benign
Select item 3039047	NM_002430.3(MN1):c.2015C>T (p.Ser672Leu)	MN1 (S672L)	Single nucleotide variant (missense variant)	MN1-related disorder	GLikely benign
Select item 3036818	NM_002430.3(MN1):c.908_919del (p.Pro303_Gln306del)	MN1	Deletion	MN1-related disorder	GLikely benign
Select item 3033622	NM_002430.3(MN1):c.1563C>T (p.Ser521=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GBenign
Select item 3025576	NM_002430.3(MN1):c.2256C>T (p.Gly752=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024846	NM_002430.3(MN1):c.1632A>G (p.Gln544=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024690	NM_002430.3(MN1):c.1783G>A (p.Val595Met)	MN1 (V595M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2820605	NM_002430.3(MN1):c.3634A>C (p.Ser1212Arg)	MN1 (S1212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689436	NM_002430.3(MN1):c.3077G>A (p.Gly1026Glu)	MN1 (G1026E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663716	NM_002430.3(MN1):c.1768G>C (p.Val590Leu)	MN1 (V590L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663612	NM_002430.3(MN1):c.2285G>A (p.Gly762Asp)	MN1 (G762D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663238	NM_002430.3(MN1):c.931G>A (p.Gly311Ser)	MN1 (G311S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662851	NM_002430.3(MN1):c.2255G>T (p.Gly752Val)	MN1 (G752V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662543	NM_002430.3(MN1):c.2813G>A (p.Gly938Asp)	MN1 (G938D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662496	NM_002430.3(MN1):c.2668C>G (p.Pro890Ala)	MN1 (P890A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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