"GeneDx"[submitter] AND "LOC130064595"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 260385	NM_014297.5(ETHE1):c.6G>A (p.Ala2=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 2318	NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)	ETHE1, LOC130064595 (M1I)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy +1 more	GPathogenic
Select item 384566	NM_014297.5(ETHE1):c.-20C>T	ETHE1, LOC130064595	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381027	NM_014297.5(ETHE1):c.-24A>C	ETHE1, LOC130064595	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 329446	NM_014297.4(ETHE1):c.-41G>A	ETHE1, LOC130064595	Single nucleotide variant	not provided +1 more	GBenign
Select item 137239	NM_014297.5(ETHE1):c.-45G>A	LOC130064595, ETHE1	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137238	NM_014297.5(ETHE1):c.-47C>T	ETHE1, LOC130064595	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 329450	NM_014297.5(ETHE1):c.-62C>G	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy +1 more	GBenign/Likely benign