ClinVar for MedGen (Select 41678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441213	NM_003640.5(ELP1):c.605G>A (p.Gly202Glu)	ELP1 (G202E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 2027978	NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)	ELP1 (G158* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726909	NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)	ELP1 (K245* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1726881	NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)	ELP1 (Y22* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1726800	NM_003640.5(ELP1):c.812del (p.Asn271fs)	ELP1 (N157fs +1 more)	Deletion (frameshift variant +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1726799	NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)	ELP1 (E1106fs +2 more)	Insertion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726728	NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)	ELP1 (L303* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1726381	NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs)	ELP1 (F551fs +2 more)	Insertion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726342	NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)	ELP1 (N690fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726314	NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)	ELP1 (K229* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1726312	NM_003640.5(ELP1):c.2562del (p.Leu855fs)	ELP1 (L506fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726298	NM_003640.5(ELP1):c.2779del (p.Met927fs)	ELP1 (M578fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726105	NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs)	ELP1 (M1007fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726046	NM_003640.5(ELP1):c.2474dup (p.Val826fs)	ELP1 (V477fs +2 more)	Duplication (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1726027	NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)	ELP1 (L1126* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1725984	NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs)	ELP1 (V1058fs +2 more)	Indel (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725667	NM_003640.5(ELP1):c.252_255del (p.Cys84fs)	ELP1 (C84fs)	Microsatellite (5 prime UTR variant +1 more)	Familial dysautonomia +1 more	GPathogenic/Likely pathogenic
Select item 1725658	NM_003640.5(ELP1):c.1934del (p.Ala645fs)	ELP1 (A296fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725654	NM_003640.5(ELP1):c.574del (p.Asp192fs)	ELP1 (D192fs +1 more)	Deletion (frameshift variant +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1725620	NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs)	ELP1 (Y622fs +2 more)	Indel (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725619	NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)	ELP1 (Q562fs +2 more)	Microsatellite (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725551	NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)	ELP1 (K412* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1725535	NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)	ELP1 (V287fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725498	NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)	ELP1 (C213* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1725422	NM_003640.5(ELP1):c.3510del (p.Ser1170fs)	ELP1 (S1056fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725266	NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)	ELP1 (G1066fs +2 more)	Indel (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725191	NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)	ELP1 (T1024fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725033	NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)	ELP1 (Q177* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1725011	NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)	ELP1 (Q1074fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1725001	NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)	ELP1 (E526fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724834	NM_003640.5(ELP1):c.2677del (p.His893fs)	ELP1 (H544fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724833	NM_003640.5(ELP1):c.2795del (p.Gln932fs)	ELP1 (Q583fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724726	NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)	ELP1 (E1116fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724699	NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)	ELP1 (K166* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1724362	NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs)	ELP1 (R284fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724350	NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)	ELP1 (Q513* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1724327	NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs)	ELP1 (I616fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724249	NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs)	ELP1 (E191fs +2 more)	Insertion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724248	NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)	ELP1 (L263* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1724219	NM_003640.5(ELP1):c.3624del (p.Glu1209fs)	ELP1 (E1095fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724176	NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)	ELP1 (F124fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724173	NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)	ELP1 (Y214* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1724163	NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs)	ELP1 (E607fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1724144	NM_003640.5(ELP1):c.343_344del (p.Met115fs)	ELP1 (M115fs +1 more)	Deletion (frameshift variant +2 more)	Familial dysautonomia	GLikely pathogenic
Select item 1724089	NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer)	ELP1	Indel (nonsense +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1724050	NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)	ELP1 (E1054* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1724014	NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)	ELP1 (W180* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1723964	NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)	ELP1 (L628* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 1722388	NM_003640.5(ELP1):c.740+1G>T	ELP1	Single nucleotide variant (splice donor variant +1 more)	Familial dysautonomia	GLikely pathogenic
Select item 1705187	NC_000009.11:g.(111644468_111651611)_(111696613_?)del	ELP1	Deletion	Familial dysautonomia	GPathogenic
Select item 1656760	NM_003640.5(ELP1):c.3855+18C>T	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +2 more	GBenign/Likely benign
Select item 1637308	NM_003640.5(ELP1):c.958+20C>T	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 1625018	NM_003640.5(ELP1):c.1909-17C>G	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +2 more	GLikely benign
Select item 1622423	NM_003640.5(ELP1):c.958+19_958+20delinsAT	ELP1	Indel (intron variant)	Familial dysautonomia +2 more	GLikely benign
Select item 1604659	NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GLikely benign
Select item 1562190	NM_003640.5(ELP1):c.3932-18T>G	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 1548370	NM_003640.5(ELP1):c.3855+19G>A	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 1500743	NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)	ELP1 (G48R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysautonomia +3 more	GUncertain significance
Select item 1492610	NM_003640.5(ELP1):c.116A>G (p.His39Arg)	ELP1 (H39R)	Single nucleotide variant (5 prime UTR variant +1 more)	Medulloblastoma +3 more	GUncertain significance
Select item 1482670	NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)	ELP1 (Y864H +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1475311	NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)	ELP1 (F895S +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1472508	NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)	ELP1 (S40F +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 1467347	NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)	ELP1 (I1063T +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GUncertain significance
Select item 1460164	NM_003640.5(ELP1):c.1361-1G>T	ELP1	Single nucleotide variant (splice acceptor variant)	Familial dysautonomia +2 more	GPathogenic/Likely pathogenic
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 1454005	NM_003640.5(ELP1):c.2283+11_2283+15del	ELP1	Deletion (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 1451893	NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)	ELP1 (D426fs +2 more)	Microsatellite (frameshift variant)	Medulloblastoma +3 more	GPathogenic/Likely pathogenic
Select item 1438284	NM_003640.5(ELP1):c.2295A>T (p.Gly765=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +2 more	GConflicting classifications of pathogenicity
Select item 1430990	NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)	ELP1 (E1115* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1403250	NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)	ELP1 (K832R +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1380659	NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)	ELP1 (Y328S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Medulloblastoma +2 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 1330959	NM_003640.5(ELP1):c.3322A>G (p.Asn1108Asp)	ELP1 (N1108D +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 1320288	NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)	ELP1 (E29K)	Single nucleotide variant (5 prime UTR variant +2 more)	Medulloblastoma +1 more	GUncertain significance
Select item 1320281	NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)	ELP1 (M1183V +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1210425	NM_003640.5(ELP1):c.3956del (p.Lys1319fs)	ELP1 (K1205fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1204993	NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)	ELP1 (T137K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1200946	NM_003640.5(ELP1):c.1644-13T>C	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 1199317	NM_003640.5(ELP1):c.755T>G (p.Leu252Trp)	ELP1 (L138W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 1199316	NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys)	ELP1 (E262K +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +1 more	GUncertain significance
Select item 1191935	NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro)	ELP1 (R1084P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177049	NM_003640.5(ELP1):c.1750+124C>T	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +1 more	GBenign
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 1152186	NM_003640.5(ELP1):c.1830C>T (p.Thr610=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149174	NM_003640.5(ELP1):c.2847C>T (p.His949=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GLikely benign
Select item 1147164	NM_003640.5(ELP1):c.2916C>T (p.Asn972=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1145619	NM_003640.5(ELP1):c.3975G>A (p.Gln1325=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142242	NM_003640.5(ELP1):c.1834T>C (p.Leu612=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1131538	NM_003640.5(ELP1):c.1284A>T (p.Thr428=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1128223	NM_003640.5(ELP1):c.1190-4G>A	ELP1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1110812	NM_003640.5(ELP1):c.2097T>C (p.Thr699=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110484	NM_003640.5(ELP1):c.1536C>T (p.Asp512=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +2 more	GLikely benign
Select item 1107877	NM_003640.5(ELP1):c.3045C>T (p.His1015=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099063	NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)	ELP1	Single nucleotide variant (synonymous variant)	Medulloblastoma +2 more	GLikely benign
Select item 1090671	NM_003640.5(ELP1):c.2031G>C (p.Leu677=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090437	NM_003640.5(ELP1):c.78C>T (p.Leu26=)	ELP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1084845	NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082147	NM_003640.5(ELP1):c.3219C>A (p.Ala1073=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074683	NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)	ELP1 (W132* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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