"GeneDx"[submitter] AND "MN1"[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1265884	NM_002430.3(MN1):c.*134dup	MN1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1261235	NM_002430.3(MN1):c.*133dup	MN1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1276500	NM_002430.3(MN1):c.*133T>C	MN1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271009	NM_002430.3(MN1):c.*133del	MN1	Deletion (3 prime UTR variant)	not provided	GBenign
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 809340	NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)	MN1 (W1301*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 72912	NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)	MN1 (R1295*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 978211	NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)	MN1 (E1260*)	Single nucleotide variant (nonsense)	CEBALID syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1310033	NM_002430.3(MN1):c.3768del (p.Asn1257fs)	MN1 (N1257fs)	Deletion (frameshift 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 3369250	NM_002430.3(MN1):c.3724G>A (p.Asp1242Asn)	MN1 (D1242N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801098	NM_002430.3(MN1):c.3674C>T (p.Ala1225Val)	MN1 (A1225V)	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 3343764	NM_002430.3(MN1):c.3480C>G (p.Ile1160Met)	MN1 (I1160M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271821	NM_002430.3(MN1):c.3435G>A (p.Pro1145=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2430556	NM_002430.3(MN1):c.3383G>A (p.Gly1128Asp)	MN1 (G1128D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311783	NM_002430.3(MN1):c.3374del (p.Gly1125fs)	MN1 (G1125fs)	Deletion (frameshift 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 1804409	NM_002430.3(MN1):c.3292G>A (p.Ala1098Thr)	MN1 (A1098T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497767	NM_002430.3(MN1):c.3274G>T (p.Gly1092Trp)	MN1 (G1092W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370562	NM_002430.3(MN1):c.3185G>A (p.Ser1062Asn)	MN1 (S1062N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311566	NM_002430.3(MN1):c.3104A>T (p.Asp1035Val)	MN1 (D1035V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580620	NM_002430.3(MN1):c.3020C>T (p.Ser1007Leu)	MN1 (S1007L)	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 2573952	NM_002430.3(MN1):c.2983C>A (p.Arg995Ser)	MN1 (R995S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378320	NM_002430.3(MN1):c.2857G>C (p.Val953Leu)	MN1 (V953L)	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 2499369	NM_002430.3(MN1):c.2743G>C (p.Gly915Arg)	MN1 (G915R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3378151	NM_002430.3(MN1):c.2735A>G (p.Gln912Arg)	MN1 (Q912R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376011	NM_002430.3(MN1):c.2696G>C (p.Ser899Thr)	MN1 (S899T)	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
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 1693076	NM_002430.3(MN1):c.2591A>G (p.Glu864Gly)	MN1 (E864G)	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 3365119	NM_002430.3(MN1):c.2539A>G (p.Thr847Ala)	MN1 (T847A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501819	NM_002430.3(MN1):c.2521G>T (p.Ala841Ser)	MN1 (A841S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708826	NM_002430.3(MN1):c.2474T>A (p.Leu825Gln)	MN1 (L825Q)	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 3369559	NM_002430.3(MN1):c.2347G>A (p.Gly783Ser)	MN1 (G783S)	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 2663612	NM_002430.3(MN1):c.2285G>A (p.Gly762Asp)	MN1 (G762D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446482	NM_002430.3(MN1):c.2263T>A (p.Ser755Thr)	MN1 (S755T)	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 3252391	NM_002430.3(MN1):c.2239C>G (p.Pro747Ala)	MN1 (P747A)	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 2501324	NM_002430.3(MN1):c.2111G>T (p.Gly704Val)	MN1 (G704V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507371	NM_002430.3(MN1):c.2108G>T (p.Gly703Val)	MN1 (G703V)	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 3363239	NM_002430.3(MN1):c.2044G>A (p.Glu682Lys)	MN1 (E682K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708754	NM_002430.3(MN1):c.1921G>T (p.Asp641Tyr)	MN1 (D641Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373275	NM_002430.3(MN1):c.1771_1785dup (p.Val595_Gly596insHisGlyGlyProVal)	MN1	Duplication	not provided	GUncertain significance
Select item 777678	NM_002430.3(MN1):c.1785G>A (p.Val595=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1878811	NM_002430.3(MN1):c.1661C>T (p.Ala554Val)	MN1 (A554V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777679	NM_002430.3(MN1):c.1602GCA[7] (p.Gln550dup)	MN1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1706789	NM_002430.3(MN1):c.1599A>G (p.Gln533=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502067	NM_002430.3(MN1):c.1444C>G (p.Leu482Val)	MN1 (L482V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189928	NM_002430.3(MN1):c.1146G>T (p.Gln382His)	MN1 (Q382H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2442482	NM_002430.3(MN1):c.1138C>T (p.Arg380Trp)	MN1 (R380W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505032	NM_002430.3(MN1):c.956G>A (p.Gly319Glu)	MN1 (G319E)	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 3371382	NM_002430.3(MN1):c.926A>T (p.Gln309Leu)	MN1 (Q309L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800667	NM_002430.3(MN1):c.876_887dup (p.Gln300_Gln301insProGlnGlnGln)	MN1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1302354	NM_002430.3(MN1):c.757G>C (p.Glu253Gln)	MN1 (E253Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700416	NM_002430.3(MN1):c.620C>G (p.Pro207Arg)	MN1 (P207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711887	NM_002430.3(MN1):c.481G>A (p.Gly161Arg)	MN1 (G161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507241	NM_002430.3(MN1):c.308G>C (p.Gly103Ala)	MN1 (G103A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809879	NM_002430.3(MN1):c.151G>A (p.Ala51Thr)	MN1 (A51T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444843	NM_002430.3(MN1):c.35A>G (p.Asn12Ser)	MN1 (N12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183496	NM_002430.3(MN1):c.-732del	MN1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1222661	NM_002430.3(MN1):c.-795_-775dup	MN1	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
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

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Items: 81