"OMIM"[submitter] AND "MNX1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14855	NM_005515.4(MNX1):c.853-2A>G	MNX1	Single nucleotide variant (splice acceptor variant)	Currarino triad	GPathogenic
Select item 14856	NM_005515.4(MNX1):c.852+1G>A	MNX1, MNX1-AS2	Single nucleotide variant (splice donor variant)	Currarino triad	GLikely pathogenic
Select item 14859	NM_005515.4(MNX1):c.844G>T (p.Glu282Ter)	MNX1, MNX1-AS2 (E282* +1 more)	Single nucleotide variant (nonsense)	Currarino triad	GPathogenic
Select item 14851	NM_005515.4(MNX1):c.775C>T (p.Gln259Ter)	MNX1, MNX1-AS2 (Q259* +1 more)	Single nucleotide variant (nonsense)	Currarino triad	GPathogenic
Select item 14857	NM_005515.4(MNX1):c.736A>T (p.Thr246Ser)	MNX1, MNX1-AS2 (T246S +1 more)	Single nucleotide variant (missense variant)	Currarino triad	GPathogenic
Select item 14850	NM_005515.4(MNX1):c.570del (p.Gly191fs)	MNX1 (G191fs)	Deletion (frameshift variant)	Currarino triad	GPathogenic
Select item 14853	NM_005515.4(MNX1):c.492C>A (p.Tyr164Ter)	LOC129999735, MNX1 (Y164*)	Single nucleotide variant (nonsense)	Currarino triad	GPathogenic
Select item 14852	NM_005515.4(MNX1):c.340del (p.His114fs)	MNX1 (H114fs)	Deletion (frameshift variant)	Currarino triad	GPathogenic
Select item 435883	NM_005515.4(MNX1):c.53dup (p.Arg19fs)	MNX1 (R19fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 14858	MNX1, 24-BP DEL/2-BP INS, NT577	MNX1	Indel	Currarino triad	GPathogenic