"MNX1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2631383	NM_005515.4(MNX1):c.832C>G (p.Leu278Val)	MNX1, MNX1-AS2 (L278V +1 more)	Single nucleotide variant (missense variant)	MNX1-related disorder	GUncertain significance
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 disorder	GUncertain significance
Select item 2630744	NM_005515.4(MNX1):c.573_582dup (p.Ala195fs)	MNX1 (A195fs)	Duplication (frameshift variant)	MNX1-related disorder	GLikely pathogenic
Select item 3037794	NM_005515.4(MNX1):c.504GGC[4] (p.Ala174del)	LOC129999735, MNX1 (A174del)	Microsatellite (inframe deletion)	MNX1-related disorder	GLikely benign
Select item 1594686	NM_005515.4(MNX1):c.496T>C (p.Tyr166His)	LOC129999735, MNX1 (Y166H)	Single nucleotide variant (missense variant)	MNX1-related disorder +1 more	GLikely benign
Select item 2717502	NM_005515.4(MNX1):c.156C>T (p.Gly52=)	MNX1	Single nucleotide variant (synonymous variant)	MNX1-related disorder +1 more	GLikely benign
Select item 3048358	NM_005515.4(MNX1):c.135C>A (p.Gly45=)	MNX1	Single nucleotide variant (synonymous variant)	MNX1-related disorder	GLikely benign
Select item 3048759	NM_005515.4(MNX1):c.126A>C (p.Gly42=)	MNX1	Single nucleotide variant (synonymous variant)	MNX1-related disorder	GLikely 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 3046587	NM_005515.4(MNX1):c.123C>G (p.Thr41=)	MNX1	Single nucleotide variant (synonymous variant)	MNX1-related disorder	GLikely benign