"Inherited Neuropathy Consortium"[submitter] AND "LITAF"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637892	NM_001136472.2(LITAF):c.477G>A (p.Lys159=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GConflicting classifications of pathogenicity
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 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
Select item 639258	NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)	LITAF (A111T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 219573	NM_001136472.2(LITAF):c.330C>T (p.Asn110=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 317782	NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)	LITAF (I92V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 637891	NM_001136472.2(LITAF):c.222T>C (p.Ile74=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 215840	NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)	LITAF (T49M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity