"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2912264	NM_001136472.2(LITAF):c.429C>T (p.Asp143=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 317781	NM_001136472.2(LITAF):c.377+13C>G	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GBenign/Likely benign
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 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 641266	NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)	LITAF (R90C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 220753	NM_001136472.2(LITAF):c.234G>A (p.Thr78=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +2 more	GBenign
Select item 317787	NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr)	LITAF (P34T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance

ClinVar