"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLC7A5" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786640	NM_003486.7(SLC7A5):c.1131C>T (p.Leu377=)	LOC126862442, SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781231	NM_003486.7(SLC7A5):c.1043+6C>T	SLC7A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780313	NM_003486.7(SLC7A5):c.1008C>T (p.Phe336=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780314	NM_003486.7(SLC7A5):c.690C>G (p.Asn230Lys)	SLC7A5 (N230K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777064	NM_003486.7(SLC7A5):c.668A>T (p.Asp223Val)	SLC7A5 (D223V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730064	NM_003486.7(SLC7A5):c.597C>T (p.Ala199=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731128	NM_003486.7(SLC7A5):c.387C>T (p.Ala129=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243528	NC_000016.9:g.(?_87677844)_(87970056_?)dup	CA5A, JPH3 +2 more	Duplication	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 2423762	NC_000016.9:g.(?_87677844)_(88505740_?)dup	BANP, CA5A +4 more	Duplication	not provided	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Fanconi anemia +2 more	GUncertain significance
Select item 1069841	NC_000016.9:g.(?_87636753)_(88505740_?)del	BANP, JPH3 +4 more	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic