MNX1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3040501	NM_005515.4(MNX1):c.*7C>G	MNX1	Single nucleotide variant (3 prime UTR variant)	MNX1-related disorder	GLikely benign
Select item 2636432	NM_005515.4(MNX1):c.1179_1197dup (p.Pro400fs)	MNX1 (P188fs +1 more)	Duplication (frameshift variant)	MNX1-related disorder	GLikely pathogenic
Select item 1630925	NM_005515.4(MNX1):c.1194C>G (p.Pro398=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541053	NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu)	MNX1 (P186L +1 more)	Single nucleotide variant (missense variant)	Currarino triad +1 more	GLikely benign
Select item 1414609	NM_005515.4(MNX1):c.1192C>T (p.Pro398Ser)	MNX1 (P186S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808365	NM_005515.4(MNX1):c.1174C>T (p.Pro392Ser)	MNX1 (P180S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998250	NM_005515.4(MNX1):c.1171C>A (p.Pro391Thr)	MNX1 (P391T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139063	NM_005515.4(MNX1):c.1171C>T (p.Pro391Ser)	MNX1 (P179S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1959453	NM_005515.4(MNX1):c.1168C>G (p.Pro390Ala)	MNX1 (P178A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084830	NM_005515.4(MNX1):c.1166C>T (p.Ser389Leu)	MNX1 (S389L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989154	NM_005515.4(MNX1):c.1162G>T (p.Asp388Tyr)	MNX1 (D176Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720673	NM_005515.4(MNX1):c.1159G>A (p.Asp387Asn)	MNX1 (D175N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133089	NM_005515.4(MNX1):c.1156G>A (p.Glu386Lys)	MNX1 (E386K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991522	NM_005515.4(MNX1):c.1138T>G (p.Ser380Ala)	MNX1 (S380A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066941	NM_005515.4(MNX1):c.1137C>G (p.Ala379=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2020317	NM_005515.4(MNX1):c.1134C>T (p.Ala378=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2241196	NM_005515.4(MNX1):c.1132G>A (p.Ala378Thr)	MNX1 (A166T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973084	NM_005515.4(MNX1):c.1119C>T (p.Gly373=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860904	NM_005515.4(MNX1):c.1104C>T (p.Phe368=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981740	NM_005515.4(MNX1):c.1099C>T (p.His367Tyr)	MNX1 (H367Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2716918	NM_005515.4(MNX1):c.1074GGACGA[4] (p.Asp363_Asp364insGluAsp)	MNX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1427317	NM_005515.4(MNX1):c.1074GGACGA[2] (p.358ED[2])	MNX1	Microsatellite (inframe_deletion)	Currarino triad +1 more	GConflicting classifications of pathogenicity
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 1918717	NM_005515.4(MNX1):c.1078G>A (p.Glu360Lys)	MNX1 (E148K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503474	NM_005515.4(MNX1):c.1072G>A (p.Glu358Lys)	MNX1 (E146K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780996	NM_005515.4(MNX1):c.1068C>G (p.Pro356=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035787	NM_005515.4(MNX1):c.1066C>T (p.Pro356Ser)	MNX1 (P356S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961800	NM_005515.4(MNX1):c.1059C>A (p.Asp353Glu)	MNX1 (D353E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3184258	NM_005515.4(MNX1):c.1058A>G (p.Asp353Gly)	MNX1 (D353G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1993458	NM_005515.4(MNX1):c.1048G>A (p.Asp350Asn)	MNX1 (D138N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647944	NM_005515.4(MNX1):c.1042C>T (p.Leu348=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049483	NM_005515.4(MNX1):c.1037G>T (p.Arg346Leu)	MNX1 (R134L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907486	NM_005515.4(MNX1):c.1022A>G (p.Asp341Gly)	MNX1 (D129G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740089	NM_005515.4(MNX1):c.1020A>G (p.Gly340=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990979	NM_005515.4(MNX1):c.1017C>T (p.Pro339=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157230	NM_005515.4(MNX1):c.1017C>G (p.Pro339=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503462	NM_005515.4(MNX1):c.1016C>G (p.Pro339Arg)	MNX1 (P127R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934218	NM_005515.4(MNX1):c.1015C>G (p.Pro339Ala)	MNX1 (P127A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181498	NM_005515.4(MNX1):c.1008G>T (p.Pro336=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355122	NM_005515.4(MNX1):c.1007C>T (p.Pro336Leu)	MNX1 (P336L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722292	NM_005515.4(MNX1):c.1004G>C (p.Gly335Ala)	MNX1 (G123A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008914	NM_005515.4(MNX1):c.988G>A (p.Ala330Thr)	MNX1 (A118T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943696	NM_005515.4(MNX1):c.983C>T (p.Pro328Leu)	MNX1 (P328L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997107	NM_005515.4(MNX1):c.981G>T (p.Glu327Asp)	MNX1 (E115D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853803	NM_005515.4(MNX1):c.962_976dup (p.Ala325_Glu326insGlyLysGlyGlyAla)	MNX1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 435881	NM_005515.4(MNX1):c.975G>A (p.Ala325=)	MNX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1424034	NM_005515.4(MNX1):c.974C>G (p.Ala325Gly)	MNX1 (A113G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1715788	NM_005515.4(MNX1):c.971G>A (p.Gly324Asp)	MNX1 (G112D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776569	NM_005515.4(MNX1):c.963G>A (p.Gly321=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742754	NM_005515.4(MNX1):c.963G>C (p.Gly321=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495499	NM_005515.4(MNX1):c.958G>T (p.Ala320Ser)	MNX1 (A108S +1 more)	Single nucleotide variant (missense variant)	not provided	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 1489999	NM_005515.4(MNX1):c.955G>A (p.Gly319Ser)	MNX1 (G319S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860371	NM_005515.4(MNX1):c.919G>A (p.Ala307Thr)	MNX1 (A307T +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 2800311	NM_005515.4(MNX1):c.904G>A (p.Ala302Thr)	MNX1 (A90T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582304	NM_005515.4(MNX1):c.895A>T (p.Ser299Cys)	MNX1 (S299C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2132396	NM_005515.4(MNX1):c.888G>A (p.Trp296Ter)	MNX1 (W84* +1 more)	Single nucleotide variant (nonsense)	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 2132397	NM_005515.4(MNX1):c.881_884del (p.Met294fs)	MNX1 (M82fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1338372	NM_005515.4(MNX1):c.874C>T (p.Arg292Trp)	MNX1 (R292W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1996355	NM_005515.4(MNX1):c.871A>C (p.Asn291His)	MNX1 (N291H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409164	NM_005515.4(MNX1):c.870G>A (p.Gln290=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2706908	NM_005515.4(MNX1):c.869A>T (p.Gln290Leu)	MNX1 (Q290L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2766995	NM_005515.4(MNX1):c.868C>T (p.Gln290Ter)	MNX1 (Q290* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 2009332	NM_005515.4(MNX1):c.853-2A>C	MNX1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 14855	NM_005515.4(MNX1):c.853-2A>G	MNX1	Single nucleotide variant (splice acceptor variant)	Currarino triad	GPathogenic
Select item 435882	NM_005515.4(MNX1):c.853-4G>T	MNX1	Single nucleotide variant (intron variant)	Currarino triad +2 more	GLikely benign
Select item 1549017	NM_005515.4(MNX1):c.853-18G>A	MNX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2658281	NM_005515.4(MNX1):c.691+667C>A	MNX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2811075	NM_005515.4(MNX1):c.691+17C>T	MNX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630536	NM_005515.4(MNX1):c.691+12G>A	MNX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777106	NM_005515.4(MNX1):c.691+10C>A	MNX1	Single nucleotide variant (intron variant)	not provided	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 3004489	NM_005515.4(MNX1):c.691+9C>T	MNX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915194	NM_005515.4(MNX1):c.689A>G (p.Asn230Ser)	MNX1 (N230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452803	NM_005515.4(MNX1):c.686del (p.Phe229fs)	MNX1 (F229fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1504031	NM_005515.4(MNX1):c.682G>C (p.Asp228His)	MNX1 (D228H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532482	NM_005515.4(MNX1):c.678G>A (p.Met226Ile)	MNX1 (M226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1400742	NM_005515.4(MNX1):c.676A>G (p.Met226Val)	MNX1 (M226V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976455	NM_005515.4(MNX1):c.669G>A (p.Leu223=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563647	NM_005515.4(MNX1):c.666C>T (p.Ile222=)	MNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353982	NM_005515.4(MNX1):c.665T>A (p.Ile222Asn)	MNX1 (I222N)	Single nucleotide variant (missense variant)	MNX1-related disorder	GUncertain significance

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