"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2737884	NM_014251.3(SLC25A13):c.15+15G>C	LOC129998833, SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 390887	NM_014251.3(SLC25A13):c.15+9G>A	SLC25A13, LOC129998833	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3007140	NM_014251.3(SLC25A13):c.15+8C>T	LOC129998833, SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2730041	NM_014251.3(SLC25A13):c.15+7G>A	LOC129998833, SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 952163	NM_014251.3(SLC25A13):c.15+5C>T	LOC129998833, SLC25A13	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2038719	NM_014251.3(SLC25A13):c.15+2T>C	LOC129998833, SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency	GLikely pathogenic
Select item 1496431	NM_014251.3(SLC25A13):c.15+1G>A	LOC129998833, SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset +1 more	GLikely pathogenic
Select item 21510	NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)	SLC25A13, LOC129998833	Single nucleotide variant (synonymous variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 1564146	NM_014251.3(SLC25A13):c.12C>T (p.Ala4=)	LOC129998833, SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1099192	NM_014251.3(SLC25A13):c.9C>T (p.Ala3=)	LOC129998833, SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 361027	NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)	LOC129998833, SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 193371	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	LOC129998833, SLC25A13 (M1T)	Single nucleotide variant (missense variant +2 more)	Citrullinemia type II +6 more	GUncertain significance