C1842197[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549689	NM_018972.2(GDAP1):c.695_1077del	GDAP1	Deletion (intron variant)	Charcot-Marie-Tooth disease recessive intermediate A	GPathogenic
Select item 4200	NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1 (L239F +3 more)	Single nucleotide variant (missense variant +1 more)	Peripheral axonal neuropathy +11 more	GPathogenic/Likely pathogenic
Select item 245608	NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)	GDAP1 (R257* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic

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