ClinVar for Gene (Select 2058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
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 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 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 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 3089885	NM_004446.3(EPRS1):c.460C>T (p.Leu154Phe)	EPRS1 (L154F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 3089875	NM_004446.3(EPRS1):c.3711+4T>C	EPRS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 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 3089872	NM_004446.3(EPRS1):c.3055A>G (p.Lys1019Glu)	EPRS1 (K1019E)	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 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 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 3089865	NM_004446.3(EPRS1):c.2564A>G (p.Glu855Gly)	EPRS1 (E855G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3089863	NM_004446.3(EPRS1):c.1910A>G (p.Lys637Arg)	EPRS1 (K637R)	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 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 3089859	NM_004446.3(EPRS1):c.1543G>A (p.Val515Met)	EPRS1 (V515M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 3063913	NM_004446.3(EPRS1):c.3586G>T (p.Val1196Leu)	EPRS1 (V1196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063911	NM_004446.3(EPRS1):c.3271A>G (p.Lys1091Glu)	EPRS1 (K1091E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054443	NM_004446.3(EPRS1):c.1743-8A>C	EPRS1	Single nucleotide variant (intron variant)	EPRS1-related disorder	GLikely benign
Select item 3047537	NM_004446.3(EPRS1):c.591G>A (p.Lys197=)	EPRS1	Single nucleotide variant (synonymous variant)	EPRS1-related disorder	GLikely benign
Select item 3047512	NM_004446.3(EPRS1):c.2142G>A (p.Gly714=)	EPRS1	Single nucleotide variant (synonymous variant)	EPRS1-related disorder	GLikely benign
Select item 3037112	NM_004446.3(EPRS1):c.3008G>A (p.Gly1003Glu)	EPRS1 (G1003E)	Single nucleotide variant (missense variant)	EPRS1-related disorder	GLikely benign
Select item 3009472	NM_004446.3(EPRS1):c.4047T>G (p.Tyr1349Ter)	EPRS1 (Y1349*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2997040	NM_004446.3(EPRS1):c.349T>A (p.Leu117Met)	EPRS1 (L117M)	Single nucleotide variant (missense variant)	not provided	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 2989534	NM_004446.3(EPRS1):c.1495-11A>G	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987688	NM_004446.3(EPRS1):c.3161A>C (p.Tyr1054Ser)	EPRS1 (Y1054S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2986973	NM_004446.3(EPRS1):c.2776-8A>T	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986179	NM_004446.3(EPRS1):c.270T>G (p.Ser90=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979167	NM_004446.3(EPRS1):c.2703G>T (p.Ala901=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977239	NM_004446.3(EPRS1):c.3373+19G>A	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971228	NM_004446.3(EPRS1):c.3301-6T>C	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970799	NM_004446.3(EPRS1):c.4299T>C (p.Phe1433=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967574	NM_004446.3(EPRS1):c.4149A>G (p.Arg1383=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966012	NM_004446.3(EPRS1):c.47-19C>A	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956566	NM_004446.3(EPRS1):c.1950+14G>T	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2896372	NM_004446.3(EPRS1):c.69C>T (p.His23=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865970	NM_004446.3(EPRS1):c.2953C>T (p.Gln985Ter)	EPRS1 (Q985*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2835047	NM_004446.3(EPRS1):c.3942A>C (p.Ala1314=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818126	NM_004446.3(EPRS1):c.4058G>A (p.Trp1353Ter)	EPRS1 (W1353*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2817069	NM_004446.3(EPRS1):c.1124C>T (p.Pro375Leu)	EPRS1 (P375L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817068	NM_004446.3(EPRS1):c.3317G>C (p.Arg1106Thr)	EPRS1 (R1106T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790108	NM_004446.3(EPRS1):c.4388+10A>T	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785245	NM_004446.3(EPRS1):c.1938C>T (p.Asn646=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776643	NM_004446.3(EPRS1):c.1506A>G (p.Pro502=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761389	NM_004446.3(EPRS1):c.1878T>G (p.Tyr626Ter)	EPRS1 (Y626*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2751990	NM_004446.3(EPRS1):c.3155G>A (p.Trp1052Ter)	EPRS1 (W1052*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2723482	NM_004446.3(EPRS1):c.4309C>T (p.Leu1437=)	EPRS1	Single nucleotide variant (synonymous variant)	EPRS1-related disorder +1 more	GLikely benign
Select item 2697532	NM_004446.3(EPRS1):c.3318_3329del (p.Arg1106_Thr1110delinsSer)	EPRS1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
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 2639905	NM_004446.3(EPRS1):c.1683G>A (p.Ser561=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2588594	NM_004446.3(EPRS1):c.1783A>G (p.Asn595Asp)	EPRS1 (N595D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570752	NM_004446.3(EPRS1):c.4015A>T (p.Ile1339Phe)	EPRS1 (I1339F)	Single nucleotide variant (missense variant)	not provided	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 2550479	NM_004446.3(EPRS1):c.223C>T (p.His75Tyr)	EPRS1 (H75Y)	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 2544282	NM_004446.3(EPRS1):c.4147A>G (p.Arg1383Gly)	EPRS1 (R1383G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524759	NM_004446.3(EPRS1):c.3109A>G (p.Met1037Val)	EPRS1 (M1037V)	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 2483264	NM_004446.3(EPRS1):c.2314G>C (p.Ala772Pro)	EPRS1 (A772P)	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 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 2426429	NC_000001.10:g.(?_220088791)_(220986760_?)dup	BPNT1, C1orf115 +9 more	Duplication	not provided	GUncertain significance
Select item 2426428	NC_000001.10:g.(?_220088791)_(220445679_?)del	BPNT1, EPRS1 +5 more	Deletion	not provided	GPathogenic
Select item 2425804	NC_000001.10:g.(?_218520044)_(220986760_?)del	MTARC1, BPNT1 +11 more	Deletion	Warburg micro syndrome 2 +1 more	GPathogenic
Select item 2425803	NC_000001.10:g.(?_220088791)_(220406225_?)dup	BPNT1, EPRS1 +5 more	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 2421826	NM_004446.3(EPRS1):c.2293C>T (p.Arg765Cys)	EPRS1 (R765C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420043	NM_004446.3(EPRS1):c.2747G>C (p.Arg916Pro)	EPRS1 (R916P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417666	NM_004446.3(EPRS1):c.901G>A (p.Ala301Thr)	EPRS1 (A301T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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