ClinVar for MedGen (Select 1633653) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069175	NM_004446.3(EPRS1):c.4444C>A (p.Pro1482Thr)	EPRS1 (P1482T)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GLikely pathogenic
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 2664967	NM_004446.3(EPRS1):c.619A>T (p.Ser207Cys)	EPRS1 (S207C)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 2664966	NM_004446.3(EPRS1):c.641A>G (p.His214Arg)	EPRS1 (H214R)	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
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 2176519	NM_004446.3(EPRS1):c.4067A>G (p.Asn1356Ser)	EPRS1 (N1356S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1805778	NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro)	EPRS1 (Q1135P)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 1680924	NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)	EPRS1 (R916Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334631	NM_004446.3(EPRS1):c.3832C>T (p.Arg1278Ter)	EPRS1 (R1278*)	Single nucleotide variant (nonsense)	Leukodystrophy, hypomyelinating, 15 +1 more	GPathogenic/Likely pathogenic
Select item 1255388	NM_004446.3(EPRS1):c.3373+24A>G	EPRS1	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GBenign
Select item 1166929	NM_004446.3(EPRS1):c.232-17G>A	EPRS1	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GBenign
Select item 1166609	NM_004446.3(EPRS1):c.924C>A (p.Asp308Glu)	EPRS1 (D308E)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GBenign
Select item 1166606	NM_004446.3(EPRS1):c.3405G>A (p.Gln1135=)	EPRS1	Single nucleotide variant (synonymous variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GBenign
Select item 1165071	NM_004446.3(EPRS1):c.1951-18dup	EPRS1	Duplication (intron variant)	not provided +1 more	GBenign
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 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 1028244	NM_004446.3(EPRS1):c.3215G>A (p.Gly1072Asp)	EPRS1 (G1072D)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +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 800786	NM_004446.3(EPRS1):c.2513G>A (p.Arg838His)	EPRS1 (R838H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 800725	NM_004446.3(EPRS1):c.3344C>T (p.Pro1115Leu)	EPRS1 (P1115L)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 800724	NM_004446.3(EPRS1):c.3148C>T (p.Arg1050Cys)	EPRS1 (R1050C)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GUncertain significance
Select item 523137	NM_004446.3(EPRS1):c.3377T>C (p.Met1126Thr)	EPRS1 (M1126T)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GPathogenic
Select item 523136	NM_004446.3(EPRS1):c.3667del (p.Thr1223fs)	EPRS1 (T1223fs)	Deletion (frameshift variant)	Leukodystrophy, hypomyelinating, 15	GPathogenic
Select item 523135	NM_004446.3(EPRS1):c.3478C>T (p.Pro1160Ser)	EPRS1 (P1160S)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GPathogenic
Select item 523134	NM_004446.3(EPRS1):c.1015C>T (p.Arg339Ter)	EPRS1 (R339*)	Single nucleotide variant (nonsense)	Leukodystrophy, hypomyelinating, 15	GPathogenic
Select item 523133	NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg)	EPRS1 (P1115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 32