ClinVar for Gene (Select 105375606) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2965049	NM_005515.4(MNX1):c.852+20C>G	MNX1, MNX1-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961962	NM_005515.4(MNX1):c.849C>A (p.Thr283=)	MNX1, MNX1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901210	NM_005515.4(MNX1):c.712C>A (p.Leu238Met)	MNX1, MNX1-AS2 (L238M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889579	NM_005515.4(MNX1):c.692-8G>C	MNX1, MNX1-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877230	NM_005515.4(MNX1):c.792G>A (p.Lys264=)	MNX1, MNX1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874852	NM_005515.4(MNX1):c.852+6C>G	MNX1, MNX1-AS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2795006	NM_005515.4(MNX1):c.692-2A>G	MNX1, MNX1-AS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2743299	NM_005515.4(MNX1):c.794A>T (p.Tyr265Phe)	MNX1, MNX1-AS2 (Y265F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706740	NM_005515.4(MNX1):c.850C>G (p.Gln284Glu)	MNX1, MNX1-AS2 (Q72E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2631757	NM_005515.4(MNX1):c.767T>G (p.Leu256Arg)	MNX1, MNX1-AS2 (L256R +1 more)	Single nucleotide variant (missense variant)	MNX1-related condition	GUncertain significance
Select item 2631383	NM_005515.4(MNX1):c.832C>G (p.Leu278Val)	MNX1, MNX1-AS2 (L278V +1 more)	Single nucleotide variant (missense variant)	MNX1-related condition	GUncertain significance
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2418621	NM_005515.4(MNX1):c.766C>T (p.Leu256=)	MNX1, MNX1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095403	NM_005515.4(MNX1):c.697del (p.Ala233fs)	MNX1, MNX1-AS2 (A21fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2056492	NM_005515.4(MNX1):c.738C>G (p.Thr246=)	MNX1, MNX1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1542796	NM_005515.4(MNX1):c.852+12C>T	MNX1, MNX1-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1338384	NM_005515.4(MNX1):c.752del (p.Gln251fs)	MNX1, MNX1-AS2 (Q251fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1336505	NM_005515.4(MNX1):c.780C>A (p.Phe260Leu)	MNX1, MNX1-AS2 (F260L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1335705	NM_005515.4(MNX1):c.830C>G (p.Ser277Trp)	MNX1, MNX1-AS2 (S277W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	ACTR3B, BLACE +190 more	Deletion	Autism	GLikely pathogenic
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 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	ESYT2, INSIG1 +161 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	LOC129999707, LOC129999708 +225 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ATG9B, ATP6V0E2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999578, LOC129999579 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	ACTR3B, BLACE +207 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	LOC129999684, LOC129999685 +315 more	Copy number gain	See cases	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	ACTR3B, BLACE +271 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 146784	GRCh38/hg38 7q36.3(chr7:156994164-157006848)x3	LOC129999734, MNX1 +1 more	Copy number gain	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 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 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	RBM33, RBM33-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	LOC123956282, LOC123956283 +173 more	Copy number loss	See cases	GPathogenic
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 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 14851	NM_005515.4(MNX1):c.775C>T (p.Gln259Ter)	MNX1, MNX1-AS2 (Q259* +1 more)	Single nucleotide variant (nonsense)	Currarino triad	GPathogenic

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Links from Gene

Items: 72