"GeneDx"[submitter] AND "EPRS1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 2042193	NM_004446.3(EPRS1):c.4144G>A (p.Val1382Ile)	EPRS1 (V1382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342466	NM_004446.3(EPRS1):c.4084-1G>A	EPRS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3364656	NM_004446.3(EPRS1):c.3797A>G (p.Gln1266Arg)	EPRS1 (Q1266R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523133	NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg)	EPRS1 (P1115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524759	NM_004446.3(EPRS1):c.3109A>G (p.Met1037Val)	EPRS1 (M1037V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1089756	NM_004446.3(EPRS1):c.2677C>A (p.Pro893Thr)	EPRS1 (P893T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2075325	NM_004446.3(EPRS1):c.1912G>A (p.Asp638Asn)	EPRS1 (D638N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680988	NM_004446.3(EPRS1):c.1328A>G (p.Asn443Ser)	EPRS1 (N443S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191064	NM_004446.3(EPRS1):c.1033A>G (p.Ser345Gly)	EPRS1 (S345G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342589	NM_004446.3(EPRS1):c.578C>T (p.Ala193Val)	EPRS1 (A193V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic