"Ambry Genetics"[submitter] AND "EPRS1"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2189890	NM_004446.3(EPRS1):c.4528C>T (p.Arg1510Cys)	EPRS1 (R1510C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089883	NM_004446.3(EPRS1):c.4519T>A (p.Leu1507Ile)	EPRS1 (L1507I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276081	NM_004446.3(EPRS1):c.4470G>T (p.Gln1490His)	EPRS1 (Q1490H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2160571	NM_004446.3(EPRS1):c.4456C>T (p.Leu1486Phe)	EPRS1 (L1486F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089882	NM_004446.3(EPRS1):c.4414C>T (p.Pro1472Ser)	EPRS1 (P1472S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089881	NM_004446.3(EPRS1):c.4389-5T>G	EPRS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3089880	NM_004446.3(EPRS1):c.4150C>T (p.Arg1384Ter)	EPRS1 (R1384*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2544282	NM_004446.3(EPRS1):c.4147A>G (p.Arg1383Gly)	EPRS1 (R1383G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599974	NM_004446.3(EPRS1):c.4130G>A (p.Cys1377Tyr)	EPRS1 (C1377Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3089879	NM_004446.3(EPRS1):c.4028C>A (p.Ala1343Asp)	EPRS1 (A1343D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089878	NM_004446.3(EPRS1):c.4019G>T (p.Arg1340Leu)	EPRS1 (R1340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089877	NM_004446.3(EPRS1):c.4003C>T (p.Leu1335Phe)	EPRS1 (L1335F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089876	NM_004446.3(EPRS1):c.3998G>A (p.Arg1333Gln)	EPRS1 (R1333Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3089875	NM_004446.3(EPRS1):c.3711+4T>C	EPRS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1680867	NM_004446.3(EPRS1):c.3548C>T (p.Ala1183Val)	EPRS1 (A1183V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3089874	NM_004446.3(EPRS1):c.3352A>G (p.Ile1118Val)	EPRS1 (I1118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276076	NM_004446.3(EPRS1):c.3283G>T (p.Ala1095Ser)	EPRS1 (A1095S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2987688	NM_004446.3(EPRS1):c.3161A>C (p.Tyr1054Ser)	EPRS1 (Y1054S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1680888	NM_004446.3(EPRS1):c.3121C>T (p.His1041Tyr)	EPRS1 (H1041Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 3089872	NM_004446.3(EPRS1):c.3055A>G (p.Lys1019Glu)	EPRS1 (K1019E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089870	NM_004446.3(EPRS1):c.2861C>T (p.Ser954Leu)	EPRS1 (S954L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089869	NM_004446.3(EPRS1):c.2822A>C (p.Gln941Pro)	EPRS1 (Q941P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089868	NM_004446.3(EPRS1):c.2807T>G (p.Leu936Arg)	EPRS1 (L936R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680916	NM_004446.3(EPRS1):c.2797C>G (p.Gln933Glu)	EPRS1 (Q933E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1680921	NM_004446.3(EPRS1):c.2773A>C (p.Lys925Gln)	EPRS1 (K925Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3276078	NM_004446.3(EPRS1):c.2746C>T (p.Arg916Trp)	EPRS1 (R916W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089867	NM_004446.3(EPRS1):c.2642A>G (p.Gln881Arg)	EPRS1 (Q881R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089866	NM_004446.3(EPRS1):c.2632C>G (p.Pro878Ala)	EPRS1 (P878A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495537	NM_004446.3(EPRS1):c.2611G>A (p.Glu871Lys)	EPRS1 (E871K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2140408	NM_004446.3(EPRS1):c.2606G>T (p.Gly869Val)	EPRS1 (G869V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089865	NM_004446.3(EPRS1):c.2564A>G (p.Glu855Gly)	EPRS1 (E855G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1920609	NM_004446.3(EPRS1):c.2548A>T (p.Ile850Leu)	EPRS1 (I850L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3276075	NM_004446.3(EPRS1):c.2542G>C (p.Ala848Pro)	EPRS1 (A848P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2551036	NM_004446.3(EPRS1):c.2472A>C (p.Lys824Asn)	EPRS1 (K824N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482608	NM_004446.3(EPRS1):c.2430G>C (p.Gln810His)	EPRS1 (Q810H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1947265	NM_004446.3(EPRS1):c.2405G>A (p.Gly802Glu)	EPRS1 (G802E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2483264	NM_004446.3(EPRS1):c.2314G>C (p.Ala772Pro)	EPRS1 (A772P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421826	NM_004446.3(EPRS1):c.2293C>T (p.Arg765Cys)	EPRS1 (R765C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089864	NM_004446.3(EPRS1):c.2290G>T (p.Val764Phe)	EPRS1 (V764F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680971	NM_004446.3(EPRS1):c.2135C>T (p.Thr712Ile)	EPRS1 (T712I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3276080	NM_004446.3(EPRS1):c.2107C>T (p.Pro703Ser)	EPRS1 (P703S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680975	NM_004446.3(EPRS1):c.1940A>G (p.Lys647Arg)	EPRS1 (K647R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3276079	NM_004446.3(EPRS1):c.1912G>C (p.Asp638His)	EPRS1 (D638H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089863	NM_004446.3(EPRS1):c.1910A>G (p.Lys637Arg)	EPRS1 (K637R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588594	NM_004446.3(EPRS1):c.1783A>G (p.Asn595Asp)	EPRS1 (N595D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276082	NM_004446.3(EPRS1):c.1762A>G (p.Ile588Val)	EPRS1 (I588V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276084	NM_004446.3(EPRS1):c.1741A>G (p.Lys581Glu)	EPRS1 (K581E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089862	NM_004446.3(EPRS1):c.1732A>G (p.Lys578Glu)	EPRS1 (K578E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182134	NM_004446.3(EPRS1):c.1726A>C (p.Ile576Leu)	EPRS1 (I576L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3089861	NM_004446.3(EPRS1):c.1719C>A (p.Asn573Lys)	EPRS1 (N573K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089860	NM_004446.3(EPRS1):c.1700C>T (p.Thr567Ile)	EPRS1 (T567I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680982	NM_004446.3(EPRS1):c.1637A>G (p.Tyr546Cys)	EPRS1 (Y546C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089859	NM_004446.3(EPRS1):c.1543G>A (p.Val515Met)	EPRS1 (V515M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2993777	NM_004446.3(EPRS1):c.1445G>A (p.Arg482His)	EPRS1 (R482H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089858	NM_004446.3(EPRS1):c.1384C>G (p.Leu462Val)	EPRS1 (L462V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089857	NM_004446.3(EPRS1):c.1375C>T (p.Arg459Cys)	EPRS1 (R459C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089856	NM_004446.3(EPRS1):c.1370C>T (p.Thr457Met)	EPRS1 (T457M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276083	NM_004446.3(EPRS1):c.1352A>G (p.Asp451Gly)	EPRS1 (D451G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089855	NM_004446.3(EPRS1):c.1333G>A (p.Gly445Arg)	EPRS1 (G445R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089854	NM_004446.3(EPRS1):c.1211A>G (p.Glu404Gly)	EPRS1 (E404G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417666	NM_004446.3(EPRS1):c.901G>A (p.Ala301Thr)	EPRS1 (A301T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089890	NM_004446.3(EPRS1):c.884C>A (p.Pro295His)	EPRS1 (P295H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089889	NM_004446.3(EPRS1):c.812A>G (p.Asp271Gly)	EPRS1 (D271G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276085	NM_004446.3(EPRS1):c.721C>G (p.Pro241Ala)	EPRS1 (P241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545668	NM_004446.3(EPRS1):c.676G>A (p.Val226Ile)	EPRS1 (V226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089888	NM_004446.3(EPRS1):c.634A>G (p.Ile212Val)	EPRS1 (I212V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089887	NM_004446.3(EPRS1):c.623+6A>G	EPRS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1681006	NM_004446.3(EPRS1):c.561T>A (p.Phe187Leu)	EPRS1 (F187L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3089885	NM_004446.3(EPRS1):c.460C>T (p.Leu154Phe)	EPRS1 (L154F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550479	NM_004446.3(EPRS1):c.223C>T (p.His75Tyr)	EPRS1 (H75Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183532	NM_004446.3(EPRS1):c.94G>A (p.Val32Ile)	EPRS1 (V32I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3089891	NM_004446.3(EPRS1):c.88A>G (p.Ile30Val)	EPRS1 (I30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681019	NM_004446.3(EPRS1):c.79G>A (p.Asp27Asn)	EPRS1 (D27N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3089886	NM_004446.3(EPRS1):c.4G>T (p.Ala2Ser)	EPRS1, LOC129932524 (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 81