"Baylor Genetics"[submitter] AND "EPRS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028246	NM_004446.3(EPRS1):c.4244+3A>C	EPRS1	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GUncertain significance
Select item 1028245	NM_004446.3(EPRS1):c.3972T>G (p.Ile1324Met)	EPRS1 (I1324M)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +2 more	GUncertain significance
Select item 1031422	NM_004446.3(EPRS1):c.3782T>C (p.Ile1261Thr)	EPRS1 (I1261T)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 1028244	NM_004446.3(EPRS1):c.3215G>A (p.Gly1072Asp)	EPRS1 (G1072D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1028243	NM_004446.3(EPRS1):c.2789T>C (p.Ile930Thr)	EPRS1 (I930T)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 1028242	NM_004446.3(EPRS1):c.2702C>T (p.Ala901Val)	EPRS1 (A901V)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GUncertain significance
Select item 1028241	NM_004446.3(EPRS1):c.2372A>G (p.Tyr791Cys)	EPRS1 (Y791C)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 2441936	NM_004446.3(EPRS1):c.1399A>G (p.Thr467Ala)	EPRS1 (T467A)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance