"GeneDx"[submitter] AND "LOC130002899"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215230	NM_003172.4(SURF1):c.54+34_55-26del	LOC130002899, SURF1	Deletion (intron variant)	not specified	GBenign
Select item 1236251	NM_003172.4(SURF1):c.54+36C>T	LOC130002899, SURF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231736	NM_003172.4(SURF1):c.54+13TGCGGGG[4]	LOC130002899, SURF1	Microsatellite (intron variant)	not provided	GBenign
Select item 496202	NM_003172.4(SURF1):c.54+13TGCGGGG[5]	SURF1, LOC130002899	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1294259	NM_003172.4(SURF1):c.54+33=	LOC130002899, SURF1	Deletion (intron variant)	not provided	GBenign
Select item 420446	NM_003172.4(SURF1):c.54+9_54+22del	LOC130002899, SURF1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 139379	NM_003172.4(SURF1):c.54+10G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 139378	NM_003172.4(SURF1):c.54+9C>G	LOC130002899, SURF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

ClinVar