CN169884[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337095	NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)	DCTN1 (P208S +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 337100	NM_004082.5(DCTN1):c.-167del	DCTN1	Deletion (5 prime UTR variant +1 more)	Perry syndrome +1 more	GUncertain significance
Select item 353894	NM_006308.2(HSPB3):c.-136G>A	HSPB3	Single nucleotide variant	Neuronopathy, distal hereditary motor	GUncertain significance
Select item 353895	NM_006308.2(HSPB3):c.-129C>T	HSPB3	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 353905	NM_006308.3(HSPB3):c.*109A>C	HSPB3	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor	GLikely benign
Select item 360739	NM_001540.5(HSPB1):c.100_103del	HSPB1	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 307429	NM_014365.3(HSPB8):c.707_720delinsAAAA	HSPB8	Indel (3 prime UTR variant)	Neuronopathy, distal hereditary motor +1 more	GUncertain significance
Select item 307432	NM_014365.3(HSPB8):c.*848TAA[10]	HSPB8	Microsatellite (3 prime UTR variant)	Neuronopathy, distal hereditary motor +2 more	GConflicting classifications of pathogenicity
Select item 307431	NM_014365.3(HSPB8):c.*848TAA[9]	HSPB8	Microsatellite (3 prime UTR variant)	Neuronopathy, distal hereditary motor +2 more	GConflicting classifications of pathogenicity

ClinVar