C0013364[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555791	NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)	ELP1 (W1326* +2 more)	Single nucleotide variant (nonsense)	Medulloblastoma +1 more	GUncertain significance
Select item 971048	NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)	ELP1 (P1317T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1562190	NM_003640.5(ELP1):c.3932-18T>G	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +2 more	GLikely benign
Select item 565613	NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)	ELP1 (S1306L +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GUncertain significance
Select item 971589	NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)	ELP1 (Q1187H +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1320281	NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)	ELP1 (M1183V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1548370	NM_003640.5(ELP1):c.3855+19G>A	ELP1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1656760	NM_003640.5(ELP1):c.3855+18C>T	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GBenign/Likely benign
Select item 952137	NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)	ELP1 (Y1278fs +2 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 859112	NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)	ELP1 (L927P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1099063	NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GLikely benign
Select item 943948	NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)	ELP1 (Q1264* +2 more)	Single nucleotide variant (nonsense)	Medulloblastoma +2 more	GPathogenic/Likely pathogenic
Select item 455967	NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)	ELP1 (Q1256R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 843042	NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)	ELP1 (R853W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1454132	NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)	ELP1 (K1085* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia +2 more	GPathogenic/Likely pathogenic
Select item 969880	NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)	ELP1 (R849Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 553107	NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	ELP1 (R1198* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia +3 more	GPathogenic/Likely pathogenic
Select item 929245	NM_003640.5(ELP1):c.3572+5G>A	ELP1	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 957991	NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)	ELP1 (H1184R +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1403250	NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)	ELP1 (K832R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 568643	NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)	ELP1 (S1176N +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GUncertain significance
Select item 701277	NM_003640.5(ELP1):c.3477C>T (p.His1159=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1002984	NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)	ELP1 (D1040G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 696964	NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 648116	NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)	ELP1 (G1152S +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance
Select item 455965	NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)	ELP1 (L1139F +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1353787	NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)	ELP1 (T779fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 697066	NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 696628	NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 964976	NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)	ELP1 (R1094K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 364561	NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)	ELP1 (A1087T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1604659	NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1467347	NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)	ELP1 (I1063T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 953149	NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)	ELP1 (V708A +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 989522	NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)	ELP1 (V1046A +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 697509	NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 989523	NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)	ELP1 (A1021S +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1037803	NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)	ELP1 (A900T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 526186	NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)	ELP1 (R1011H +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 967730	NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)	ELP1 (R897C +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 1475311	NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)	ELP1 (F895S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 246548	NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)	ELP1 (A1005V +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GUncertain significance
Select item 989524	NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)	ELP1 (Q649E +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +1 more	GUncertain significance
Select item 1482670	NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)	ELP1 (Y864H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 989525	NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)	ELP1 (A625T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1159781	NM_003640.5(ELP1):c.2908T>C (p.Leu970=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +2 more	GLikely benign
Select item 972490	NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)	ELP1 (L856M +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 913168	NM_003640.5(ELP1):c.2861-12T>G	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GConflicting classifications of pathogenicity
Select item 1149174	NM_003640.5(ELP1):c.2847C>T (p.His949=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +2 more	GLikely benign
Select item 577389	NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)	ELP1 (H949Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 699980	NM_003640.5(ELP1):c.2826A>T (p.Arg942=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +2 more	GLikely benign
Select item 848810	NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)	ELP1 (R593* +2 more)	Single nucleotide variant (nonsense)	Medulloblastoma +3 more	GPathogenic/Likely pathogenic
Select item 455962	NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)	ELP1 (I936V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 581293	NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)	ELP1 (F934C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 655332	NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)	ELP1 (R584W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 382128	NM_003640.5(ELP1):c.2790T>C (p.Asn930=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +3 more	GLikely benign
Select item 526205	NM_003640.5(ELP1):c.2778A>G (p.Lys926=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 701537	NM_003640.5(ELP1):c.2587+10C>T	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 704921	NM_003640.5(ELP1):c.2547A>G (p.Pro849=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 989532	NM_003640.5(ELP1):c.2501+4T>G	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +1 more	GUncertain significance
Select item 423215	NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)	ELP1 (K720* +2 more)	Duplication (nonsense)	Familial dysautonomia +2 more	GPathogenic/Likely pathogenic
Select item 965089	NM_003640.5(ELP1):c.2498A>C (p.His833Pro)	ELP1 (H484P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 572001	NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)	ELP1 (D821N +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance
Select item 711454	NM_003640.5(ELP1):c.2460C>T (p.Cys820=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 989534	NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)	ELP1 (Y457C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 971264	NM_003640.5(ELP1):c.2386A>G (p.Met796Val)	ELP1 (M796V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 990647	NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)	ELP1 (V443I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1451893	NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)	ELP1 (D426fs +2 more)	Microsatellite (frameshift variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 1438284	NM_003640.5(ELP1):c.2295A>T (p.Gly765=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 577835	NM_003640.5(ELP1):c.2284G>A (p.Val762Met)	ELP1 (V762M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1454005	NM_003640.5(ELP1):c.2283+11_2283+15del	ELP1	Deletion (intron variant)	Familial dysautonomia +2 more	GLikely benign
Select item 850644	NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)	ELP1 (N404S +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance
Select item 641171	NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)	ELP1 (L399R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 704840	NM_003640.5(ELP1):c.2205-7C>T	ELP1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 382631	NM_003640.5(ELP1):c.2204+18G>C	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GBenign/Likely benign
Select item 6085	NM_003640.5(ELP1):c.2204+6T>C	ELP1	Single nucleotide variant (intron variant)	not specified +3 more	GPathogenic
Select item 289151	NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)	ELP1 (R730Q +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 969318	NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)	ELP1 (R722Q +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 572554	NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)	ELP1 (P712S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 862871	NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)	ELP1 (V584I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 966606	NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)	ELP1 (R582Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 6086	NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	ELP1 (R696P +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GPathogenic/Likely pathogenic
Select item 246551	NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)	ELP1 (R689W +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 439825	NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)	ELP1 (F670C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 364568	NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)	ELP1 (F670L +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance
Select item 1425203	NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)	ELP1 (C550R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 990649	NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)	ELP1 (Y298F +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +1 more	GUncertain significance
Select item 526187	NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)	ELP1 (T642M +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 990650	NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)	ELP1 (A289V +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GUncertain significance
Select item 1625018	NM_003640.5(ELP1):c.1909-17C>G	ELP1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 558407	NM_003640.5(ELP1):c.1854+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +2 more	GLikely pathogenic
Select item 194633	NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)	ELP1 (Y605C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1003324	NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)	ELP1 (R253Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 971784	NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)	ELP1 (R602W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 964807	NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)	ELP1 (F230L +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance
Select item 246550	NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)	ELP1 (Q577R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 697137	NM_003640.5(ELP1):c.1644-13dup	ELP1	Duplication (intron variant)	Familial dysautonomia +2 more	GLikely benign
Select item 1200946	NM_003640.5(ELP1):c.1644-13T>C	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 364574	NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)	ELP1 (M538I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 639038	NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)	ELP1 (M424T +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance

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