2058[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	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 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 1902279	NM_004446.3(EPRS1):c.4529G>A (p.Arg1510His)	EPRS1 (R1510H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1680849	NM_004446.3(EPRS1):c.4488C>T (p.Val1496=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063682	NM_004446.3(EPRS1):c.4472C>T (p.Pro1491Leu)	EPRS1 (P1491L)	Single nucleotide variant (missense variant)	not provided	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 3069175	NM_004446.3(EPRS1):c.4444C>A (p.Pro1482Thr)	EPRS1 (P1482T)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GLikely pathogenic
Select item 2079387	NM_004446.3(EPRS1):c.4441A>G (p.Ile1481Val)	EPRS1 (I1481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680850	NM_004446.3(EPRS1):c.4439G>A (p.Cys1480Tyr)	EPRS1 (C1480Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680851	NM_004446.3(EPRS1):c.4428T>C (p.Ala1476=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2790108	NM_004446.3(EPRS1):c.4388+10A>T	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1940698	NM_004446.3(EPRS1):c.4323+4AG[2]	EPRS1	Microsatellite (intron variant)	not provided	GLikely benign
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 872622	NM_004446.3(EPRS1):c.4309C>G (p.Leu1437Val)	EPRS1 (L1437V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680852	NM_004446.3(EPRS1):c.4300_4301delinsTT (p.Gln1434Leu)	EPRS1 (Q1434L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2970799	NM_004446.3(EPRS1):c.4299T>C (p.Phe1433=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127759	NM_004446.3(EPRS1):c.4292A>G (p.Glu1431Gly)	EPRS1 (E1431G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680853	NM_004446.3(EPRS1):c.4250C>T (p.Ser1417Phe)	EPRS1 (S1417F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680854	NM_004446.3(EPRS1):c.4245-16T>C	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1971393	NM_004446.3(EPRS1):c.4241C>A (p.Thr1414Lys)	EPRS1 (T1414K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179265	NM_004446.3(EPRS1):c.4238T>G (p.Phe1413Cys)	EPRS1 (F1413C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061264	NM_004446.3(EPRS1):c.4233C>T (p.Thr1411=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069376	NM_004446.3(EPRS1):c.4230C>T (p.Val1410=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935258	NM_004446.3(EPRS1):c.4206A>C (p.Gln1402His)	EPRS1 (Q1402H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680855	NM_004446.3(EPRS1):c.4206A>G (p.Gln1402=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680856	NM_004446.3(EPRS1):c.4151G>A (p.Arg1384Gln)	EPRS1 (R1384Q)	Single nucleotide variant (missense variant)	not provided	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 2967574	NM_004446.3(EPRS1):c.4149A>G (p.Arg1383=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2042193	NM_004446.3(EPRS1):c.4144G>A (p.Val1382Ile)	EPRS1 (V1382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680857	NM_004446.3(EPRS1):c.4143C>T (p.Ala1381=)	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 2179473	NM_004446.3(EPRS1):c.4092C>T (p.Pro1364=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680858	NM_004446.3(EPRS1):c.4077G>A (p.Glu1359=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2176519	NM_004446.3(EPRS1):c.4067A>G (p.Asn1356Ser)	EPRS1 (N1356S)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +2 more	GUncertain significance
Select item 2818126	NM_004446.3(EPRS1):c.4058G>A (p.Trp1353Ter)	EPRS1 (W1353*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3009472	NM_004446.3(EPRS1):c.4047T>G (p.Tyr1349Ter)	EPRS1 (Y1349*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1680859	NM_004446.3(EPRS1):c.4033T>A (p.Leu1345Ile)	EPRS1 (L1345I)	Single nucleotide variant (missense variant)	not provided	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 1680860	NM_004446.3(EPRS1):c.4020C>T (p.Arg1340=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2086160	NM_004446.3(EPRS1):c.4019G>A (p.Arg1340His)	EPRS1 (R1340H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680861	NM_004446.3(EPRS1):c.4018C>T (p.Arg1340Cys)	EPRS1 (R1340C)	Single nucleotide variant (missense variant)	not provided	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 1170020	NM_004446.3(EPRS1):c.4008T>C (p.Ser1336=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2163183	NM_004446.3(EPRS1):c.3992G>A (p.Arg1331Gln)	EPRS1 (R1331Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940967	NM_004446.3(EPRS1):c.3974C>A (p.Ala1325Glu)	EPRS1 (A1325E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028245	NM_004446.3(EPRS1):c.3972T>G (p.Ile1324Met)	EPRS1 (I1324M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2835047	NM_004446.3(EPRS1):c.3942A>C (p.Ala1314=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183531	NM_004446.3(EPRS1):c.3933T>C (p.Ile1311=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111965	NM_004446.3(EPRS1):c.3910-3T>C	EPRS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1901345	NM_004446.3(EPRS1):c.3910-8G>A	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942917	NM_004446.3(EPRS1):c.3858T>A (p.Val1286=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019781	NM_004446.3(EPRS1):c.3856G>C (p.Val1286Leu)	EPRS1 (V1286L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130600	NM_004446.3(EPRS1):c.3853A>G (p.Met1285Val)	EPRS1 (M1285V)	Single nucleotide variant (missense variant)	not provided	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 1934132	NM_004446.3(EPRS1):c.3830C>T (p.Thr1277Ile)	EPRS1 (T1277I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680862	NM_004446.3(EPRS1):c.3806A>G (p.Tyr1269Cys)	EPRS1 (Y1269C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716061	NM_004446.3(EPRS1):c.3785C>T (p.Pro1262Leu)	EPRS1 (P1262L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 1680863	NM_004446.3(EPRS1):c.3781A>G (p.Ile1261Val)	EPRS1 (I1261V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680864	NM_004446.3(EPRS1):c.3776C>G (p.Pro1259Arg)	EPRS1 (P1259R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037467	NM_004446.3(EPRS1):c.3775C>G (p.Pro1259Ala)	EPRS1 (P1259A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680865	NM_004446.3(EPRS1):c.3763G>A (p.Val1255Ile)	EPRS1 (V1255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939217	NM_004446.3(EPRS1):c.3746C>T (p.Ser1249Phe)	EPRS1 (S1249F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182492	NM_004446.3(EPRS1):c.3712-15CT[2]	EPRS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2015305	NM_004446.3(EPRS1):c.3712-13C>T	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990247	NM_004446.3(EPRS1):c.3712-15C>G	EPRS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3089875	NM_004446.3(EPRS1):c.3711+4T>C	EPRS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 523136	NM_004446.3(EPRS1):c.3667del (p.Thr1223fs)	EPRS1 (T1223fs)	Deletion (frameshift variant)	Leukodystrophy, hypomyelinating, 15	GPathogenic
Select item 2104765	NM_004446.3(EPRS1):c.3662A>C (p.Tyr1221Ser)	EPRS1 (Y1221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935686	NM_004446.3(EPRS1):c.3651A>G (p.Ala1217=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680866	NM_004446.3(EPRS1):c.3633G>A (p.Thr1211=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1930762	NM_004446.3(EPRS1):c.3632C>T (p.Thr1211Met)	EPRS1 (T1211M)	Single nucleotide variant (missense variant)	not provided	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 1961359	NM_004446.3(EPRS1):c.3556-5T>C	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953133	NM_004446.3(EPRS1):c.3556-16A>G	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923072	NM_004446.3(EPRS1):c.3555+20A>C	EPRS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2020315	NM_004446.3(EPRS1):c.3513A>G (p.Glu1171=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1166606	NM_004446.3(EPRS1):c.3405G>A (p.Gln1135=)	EPRS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1805778	NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro)	EPRS1 (Q1135P)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance

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