"GeneDx"[submitter] AND "LOC130004825"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57911	GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3	DENND10, EIF3A +36 more	Copy number gain	See cases	GUncertain significance
Select item 2368067	NM_213649.2(SFXN4):c.103G>A (p.Glu35Lys)	LOC130004825, SFXN4 (E35K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 515352	NM_213649.2(SFXN4):c.51C>T (p.Arg17=)	LOC130004825, SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 506546	NM_213649.2(SFXN4):c.18G>A (p.Glu6=)	LOC130004825, SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 383299	NM_213649.2(SFXN4):c.7C>T (p.Leu3=)	LOC130004825, SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 509983	NM_213649.2(SFXN4):c.-21G>T	LOC130004825, SFXN4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512150	NM_213649.2(SFXN4):c.-31T>G	LOC130004825, SFXN4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 390891	NM_213649.2(SFXN4):c.-31T>A	LOC130004825, SFXN4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 508384	NM_213649.2(SFXN4):c.-50TCC[2]	LOC130004825, SFXN4	Microsatellite (5 prime UTR variant)	not specified	GLikely benign