"GeneDx"[submitter] AND "LOC126805598"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 1192162	NM_020631.6(PLEKHG5):c.43+322G>A	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190772	NM_020631.6(PLEKHG5):c.43+249C>T	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516578	NM_020631.6(PLEKHG5):c.43+20G>T	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 297976	NM_020631.6(PLEKHG5):c.43+14_43+20del	LOC126805598, PLEKHG5	Deletion (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 297977	NM_020631.6(PLEKHG5):c.43+13G>A	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GBenign
Select item 246031	NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)	LOC126805598, PLEKHG5 (P12T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 297978	NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 297979	NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +4 more	GBenign/Likely benign
Select item 668447	NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 388573	NM_020631.6(PLEKHG5):c.-73C>T	PLEKHG5, LOC126805598	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 673060	NM_020631.6(PLEKHG5):c.-87-95_-87-94insATCCATTAGGGAGAGCTGGCCCAGGTCGGAGC	LOC126805598, PLEKHG5	Insertion (intron variant)	not provided	GBenign
Select item 1188754	NM_020631.6(PLEKHG5):c.-87-222A>C	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign