"Athena Diagnostics"[submitter] AND "LITAF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 245638	NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)	LITAF (R160C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +3 more	GConflicting classifications of pathogenicity
Select item 1256128	NM_001136472.2(LITAF):c.377+9G>C	LITAF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 221057	NM_001136472.2(LITAF):c.333C>T (p.Ala111=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 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 215839	NM_001136472.2(LITAF):c.240C>T (p.Tyr80=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 532706	NM_001136472.2(LITAF):c.27G>A (p.Ala9=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign

ClinVar