C4225400[trait identifier] AND "Hadassah Hebrew University Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496635	NM_004990.4(MARS1):c.920A>G (p.Tyr307Cys)	MARS1 (Y307C)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	GLikely pathogenic
Select item 156025	NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)	MARS1 (R618C)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more	GUncertain significance