"GeneDx"[submitter] AND "MNX1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 1200101	NM_005515.4(MNX1):c.*322C>A	MNX1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1259074	NM_005515.4(MNX1):c.*232G>A	MNX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1274948	NM_005515.4(MNX1):c.*165dup	MNX1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1702741	NM_005515.4(MNX1):c.1135G>A (p.Ala379Thr)	MNX1 (A167T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520350	NM_005515.4(MNX1):c.1081G>A (p.Asp361Asn)	MNX1 (D149N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367870	NM_005515.4(MNX1):c.899_914del (p.Lys300fs)	MNX1 (K300fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 420708	NM_005515.4(MNX1):c.885A>C (p.Lys295Asn)	MNX1 (K295N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2502027	NM_005515.4(MNX1):c.878G>A (p.Arg293Gln)	MNX1 (R293Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242742	NM_005515.4(MNX1):c.853-137T>C	MNX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293977	NM_005515.4(MNX1):c.852+277C>A	MNX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237122	NM_005515.4(MNX1):c.852+92A>G	MNX1, MNX1-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1314025	NM_005515.4(MNX1):c.832C>T (p.Leu278Phe)	MNX1, MNX1-AS2 (L278F +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 423860	NM_005515.4(MNX1):c.811del (p.Arg271fs)	MNX1, MNX1-AS2 (R271fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1263676	NM_005515.4(MNX1):c.691+888A>T	MNX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243309	NM_005515.4(MNX1):c.691+693G>C	MNX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258865	NM_005515.4(MNX1):c.691+654C>A	MNX1 (A16D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1686665	NM_005515.4(MNX1):c.691+620_691+621del	MNX1 (S5fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1293974	NM_005515.4(MNX1):c.691+430C>T	MNX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1311994	NM_005515.4(MNX1):c.576GCACCCCGC[1] (p.193HPA[1])	MNX1	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2430524	NM_005515.4(MNX1):c.518C>T (p.Ala173Val)	LOC129999735, MNX1 (A173V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170017	NM_005515.4(MNX1):c.375CGC[12] (p.Ala132_Ala134dup)	LOC129999736, MNX1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1170768	NM_005515.4(MNX1):c.357G>T (p.Pro119=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 452317	NM_005515.4(MNX1):c.325_337del (p.Gly109fs)	MNX1 (G109fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1217668	NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del)	MNX1 (G105del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2663031	NM_005515.4(MNX1):c.-11_276del (p.Met1fs)	MNX1 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1800794	NM_005515.4(MNX1):c.242C>T (p.Pro81Leu)	MNX1 (P81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817990	NM_005515.4(MNX1):c.116_117del (p.Ser39fs)	MNX1 (S39fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 449412	NM_005515.4(MNX1):c.77del (p.Ala26fs)	MNX1 (A26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 435883	NM_005515.4(MNX1):c.53dup (p.Arg19fs)	MNX1 (R19fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1262170	NM_005515.4(MNX1):c.-285C>G	LOC129999737, MNX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1258687	NM_005515.4(MNX1):c.-293C>G	LOC129999737, MNX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1226485	NC_000007.14:g.157010742C>T	LOC129999737, MNX1	Single nucleotide variant	not provided	GBenign
Select item 1247484	NC_000007.14:g.157010867del	LOC129999737, MNX1 +1 more	Deletion (non-coding transcript variant)	not provided	GBenign
Select item 253366	GRCh37/hg19 7q36.3(chr7:156431577-157598312)x1	PTPRN2, MNX1 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 3360511	NM_005515.4(MNX1):c.1169C>T (p.Pro390Leu)	MNX1 (P178L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 42