"GeneReviews"[submitter] AND "LITAF"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208246	NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg)	LITAF (P135R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 41231	NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)	LITAF (P135S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 41230	NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)	LITAF (P135T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GPathogenic
Select item 208245	NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)	LITAF (A129T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 6059	NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)	LITAF (W116G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GPathogenic
Select item 6058	NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)	LITAF (T115N)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GPathogenic/Likely pathogenic
Select item 6057	NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)	LITAF (G112S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 41229	NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)	LITAF (A111G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GPathogenic