ClinVar for MedGen (Select 1384124) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341885	NM_001014987.2(LAT):c.233T>C (p.Leu78Pro)	LAT (L114P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1170584	NM_001014987.2(LAT):c.360G>A (p.Ala120=)	LAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168087	NM_001014987.2(LAT):c.318T>C (p.Ser106=)	LAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1166615	NM_001014987.2(LAT):c.399-9T>A	LAT	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LAT deficiency +1 more	GBenign
Select item 1031728	NM_001014989.2(LAT):c.52dup (p.Ala18fs)	LAT, LOC130058751 (A18fs)	Duplication (frameshift variant)	Severe combined immunodeficiency due to LAT deficiency	GPathogenic
Select item 1028939	NM_001014987.2(LAT):c.422C>T (p.Pro141Leu)	LAT (P170L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 427751	NM_001014987.2(LAT):c.44dup (p.Leu16fs)	LAT (L16fs +1 more)	Duplication (frameshift variant)	Severe combined immunodeficiency due to LAT deficiency	GPathogenic
Select item 427750	NM_001014987.2(LAT):c.268_269del (p.Gly90fs)	LAT (G90fs +2 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to LAT deficiency	GPathogenic

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