Related gene-specific medical variations for Gene (Select 79827) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1069033	NM_024769.5(CLMP):c.421G>T (p.Gly141Ter)	CLMP, LOC112042785 (G141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 784224	NM_024769.5(CLMP):c.453G>A (p.Leu151=)	CLMP, LOC112042785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717942	NM_024769.5(CLMP):c.408G>A (p.Lys136=)	LOC112042785, CLMP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 427825	NM_024769.3(CLMP):c.[29-2A>G];[410G>A]			Intestinal pseudo-obstruction	GPathogenic
Select item 264669	NM_024769.5(CLMP):c.410G>A (p.Cys137Tyr)	CLMP, LOC112042785 (C137Y)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 264668	NM_024769.5(CLMP):c.29-2A>G	CLMP	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 224071	NM_024769.5(CLMP):c.508C>T (p.Arg170Ter)	CLMP, LOC112042785 (R170*)	Single nucleotide variant (nonsense)	Intestinal pseudo-obstruction +1 more	GPathogenic/Likely pathogenic

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