ClinVar for MedGen (Select 323460) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689437	NM_005515.4(MNX1):c.1055G>C (p.Arg352Thr)	MNX1 (R140T +1 more)	Single nucleotide variant (missense variant)	Currarino triad	GUncertain significance
Select item 2663781	NM_005515.4(MNX1):c.355C>A (p.Pro119Thr)	MNX1 (P119T)	Single nucleotide variant (missense variant)	Currarino triad	GUncertain significance
Select item 2433775	NM_005515.4(MNX1):c.1136C>T (p.Ala379Val)	MNX1 (A167V +1 more)	Single nucleotide variant (missense variant)	Currarino triad	GUncertain significance
Select item 2433774	NM_005515.4(MNX1):c.145G>A (p.Gly49Arg)	MNX1 (G49R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805749	NM_005515.4(MNX1):c.852G>A (p.Gln284=)	MNX1, MNX1-AS2	Single nucleotide variant (synonymous variant)	Currarino triad	GUncertain significance
Select item 1699280	NM_005515.4(MNX1):c.488_494dup (p.Tyr166fs)	LOC129999735, MNX1 (Y166fs)	Duplication (frameshift variant)	Currarino triad	GPathogenic
Select item 1699254	NM_005515.4(MNX1):c.863G>A (p.Trp288Ter)	MNX1 (W288* +1 more)	Single nucleotide variant (nonsense)	Currarino triad	GPathogenic
Select item 1685952	NM_005515.4(MNX1):c.562C>T (p.Gln188Ter)	MNX1 (Q188*)	Single nucleotide variant (nonsense)	Currarino triad	GPathogenic
Select item 1684291	NM_005515.4(MNX1):c.869A>G (p.Gln290Arg)	MNX1 (Q290R +1 more)	Single nucleotide variant (missense variant)	Currarino triad	GLikely pathogenic
Select item 1664881	NM_005515.4(MNX1):c.402T>C (p.Ala134=)	LOC129999736, MNX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1662575	NM_005515.4(MNX1):c.483C>T (p.His161=)	LOC129999735, MNX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1651538	NM_005515.4(MNX1):c.372T>C (p.Ala124=)	MNX1	Single nucleotide variant (synonymous variant)	Currarino triad +1 more	GLikely benign
Select item 1651300	NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del)	LOC129999736, MNX1	Microsatellite (inframe_deletion)	Currarino triad +1 more	GLikely benign
Select item 1630684	NM_005515.4(MNX1):c.692-18C>T	MNX1, MNX1-AS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1600286	NM_005515.4(MNX1):c.691+10C>G	MNX1	Single nucleotide variant (intron variant)	Currarino triad +1 more	GBenign/Likely benign
Select item 1580428	NM_005515.4(MNX1):c.126A>G (p.Gly42=)	MNX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1561216	NM_005515.4(MNX1):c.528G>A (p.Ala176=)	MNX1	Single nucleotide variant (synonymous variant)	Currarino triad +1 more	GLikely benign
Select item 1552832	NM_005515.4(MNX1):c.234G>A (p.Pro78=)	MNX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1541053	NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu)	MNX1 (P186L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1480698	NM_005515.4(MNX1):c.1081GACGAGGAC[1] (p.361DED[1])	MNX1	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1479384	NM_005515.4(MNX1):c.808A>C (p.Lys270Gln)	MNX1, MNX1-AS2 (K270Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1435404	NM_005515.4(MNX1):c.504GGC[6] (p.Ala174dup)	LOC129999735, MNX1	Microsatellite (inframe_insertion)	Currarino triad +1 more	GUncertain significance
Select item 1427317	NM_005515.4(MNX1):c.1074GGACGA[2] (p.358ED[2])	MNX1	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1415319	NM_005515.4(MNX1):c.445G>A (p.Gly149Ser)	LOC129999736, MNX1 (G149S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1396188	NM_005515.4(MNX1):c.375CGC[16] (p.Ala128_Ala134dup)	LOC129999736, MNX1	Microsatellite (inframe_insertion)	Currarino triad +1 more	GUncertain significance
Select item 1391987	NM_005515.4(MNX1):c.956G>A (p.Gly319Asp)	MNX1 (G107D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1359737	NM_005515.4(MNX1):c.132CGG[8] (p.Gly47_Gly49dup)	MNX1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
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 1177509	NM_005515.4(MNX1):c.403_404insCCGCCG (p.Ala133_Ala134dup)	LOC129999736, MNX1	Insertion (inframe_insertion)	not provided	GBenign
Select item 1047679	NM_005515.4(MNX1):c.509C>G (p.Ala170Gly)	LOC129999735, MNX1 (A170G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 435883	NM_005515.4(MNX1):c.53dup (p.Arg19fs)	MNX1 (R19fs)	Duplication (frameshift variant)	Currarino triad +1 more	GPathogenic
Select item 435882	NM_005515.4(MNX1):c.853-4G>T	MNX1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	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 14858	MNX1, 24-BP DEL/2-BP INS, NT577	MNX1	Indel	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 14856	NM_005515.4(MNX1):c.852+1G>A	MNX1, MNX1-AS2	Single nucleotide variant (splice donor variant)	Currarino triad	GLikely pathogenic
Select item 14855	NM_005515.4(MNX1):c.853-2A>G	MNX1	Single nucleotide variant (splice acceptor 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 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 14850	NM_005515.4(MNX1):c.570del (p.Gly191fs)	MNX1 (G191fs)	Deletion (frameshift variant)	Currarino triad	GPathogenic

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Items: 42