"GeneDx"[submitter] AND "LOC126863212"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 60271	GRCh38/hg38 Xp22.2(chrX:12988378-13963060)x3	ATXN3L, EGFL6 +40 more	Copy number gain	See cases	GUncertain significance
Select item 60274	GRCh38/hg38 Xp22.2(chrX:13325258-13744416)x2	EGFL6, LINC01203 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1178849	NM_001011658.4(TRAPPC2):c.-146C>A	LOC126863212, OFD1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1217469	NM_001011658.4(TRAPPC2):c.-162+107dup	LOC126863212, OFD1 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1220213	NC_000023.11:g.13734693C>A	LOC126863212, OFD1	Single nucleotide variant	not provided	GLikely benign
Select item 1211953	NC_000023.11:g.13734708T>G	LOC126863212, OFD1	Single nucleotide variant	not provided	GLikely benign
Select item 1218894	NM_003611.3(OFD1):c.-315G>C	LOC126863212, OFD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 41157	NM_003611.3(OFD1):c.-296G>T	LOC126863212, OFD1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 680448	NM_003611.3(OFD1):c.-19C>G	LOC126863212, OFD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 211784	NM_003611.3(OFD1):c.12+28G>C	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1235588	NM_003611.3(OFD1):c.12+79T>G	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205624	NM_003611.3(OFD1):c.13-59T>G	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 94373	NM_003611.3(OFD1):c.54A>G (p.Glu18=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 280551	NM_003611.3(OFD1):c.72C>A (p.Tyr24Ter)	LOC126863212, OFD1 (Y24*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 404263	NM_003611.3(OFD1):c.89G>A (p.Arg30Gln)	LOC126863212, OFD1 (R30Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1179985	NM_003611.3(OFD1):c.111+163C>T	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign