Related gene-specific medical variations for Gene (Select 2058) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346716	NM_004446.3(EPRS1):c.8C>A (p.Thr3Lys)	EPRS1, LOC129932524 (T3K)	Single nucleotide variant (missense variant)	EPRS1-related disorder	GUncertain significance
Select item 3089886	NM_004446.3(EPRS1):c.4G>T (p.Ala2Ser)	EPRS1, LOC129932524 (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089873	NM_004446.3(EPRS1):c.32G>T (p.Gly11Val)	EPRS1, LOC129932524 (G11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089871	NM_004446.3(EPRS1):c.29C>T (p.Ser10Leu)	EPRS1, LOC129932524 (S10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068299	NM_004446.3(EPRS1):c.3370A>G (p.Thr1124Ala)	EPRS1 (T1124A)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 3065216	NM_004446.3(EPRS1):c.3289T>G (p.Phe1097Val)	EPRS1 (F1097V)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 2900669	NM_004446.3(EPRS1):c.36C>T (p.Asp12=)	EPRS1, LOC129932524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441936	NM_004446.3(EPRS1):c.1399A>G (p.Thr467Ala)	EPRS1 (T467A)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 2441274	NM_004446.3(EPRS1):c.2929A>G (p.Lys977Glu)	EPRS1 (K977E)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 2441273	NM_004446.3(EPRS1):c.4361A>G (p.Glu1454Gly)	EPRS1 (E1454G)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 2056002	NM_004446.3(EPRS1):c.10C>T (p.Leu4Phe)	EPRS1, LOC129932524 (L4F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1975338	NM_004446.3(EPRS1):c.46+9C>T	EPRS1, LOC129932524	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916548	NM_004446.3(EPRS1):c.46+18A>G	EPRS1, LOC129932524	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 872623	NM_004446.3(EPRS1):c.1043A>G (p.Asn348Ser)	EPRS1 (N348S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance