"Natera, Inc."[submitter] AND "ELP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1145619	NM_003640.5(ELP1):c.3975G>A (p.Gln1325=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1054386	NM_003640.5(ELP1):c.3961A>T (p.Asn1321Tyr)	ELP1 (N1207Y +2 more)	Single nucleotide variant (missense variant)	not provided	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 572319	NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)	ELP1 (E1313K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1005295	NM_003640.5(ELP1):c.3931+3_3931+6del	ELP1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 526199	NM_003640.5(ELP1):c.3931+1G>A	ELP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 705522	NM_003640.5(ELP1):c.3918G>A (p.Ser1306=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	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 834236	NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val)	ELP1 (I947V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 364551	NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +1 more	GConflicting classifications of pathogenicity
Select item 364552	NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)	ELP1 (N1290S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 455968	NM_003640.5(ELP1):c.3855+9T>G	ELP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1068271	NM_003640.5(ELP1):c.3855+2T>G	ELP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 862696	NM_003640.5(ELP1):c.3855G>A (p.Pro1285=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 566098	NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)	ELP1 (P1285L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 364554	NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met)	ELP1 (T1262M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 991611	NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)	ELP1 (T1148A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 942826	NM_003640.5(ELP1):c.3779A>T (p.Glu1260Val)	ELP1 (E911V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 967669	NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly)	ELP1 (R1139G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 698605	NM_003640.5(ELP1):c.3750A>G (p.Glu1250=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 242316	NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val)	ELP1 (F1244V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 704745	NM_003640.5(ELP1):c.3714T>C (p.His1238=)	ELP1	Single nucleotide variant (synonymous variant)	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 550282	NM_003640.5(ELP1):c.3701-6C>G	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 662098	NM_003640.5(ELP1):c.3700+6T>G	ELP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 455966	NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)	ELP1 (E1230Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 967946	NM_003640.5(ELP1):c.3680A>G (p.Gln1227Arg)	ELP1 (Q1113R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 970838	NM_003640.5(ELP1):c.3673GTG[1] (p.Val1226del)	ELP1 (V1226del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 991612	NM_003640.5(ELP1):c.3649G>A (p.Ala1217Thr)	ELP1 (A1103T +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 700212	NM_003640.5(ELP1):c.3636G>T (p.Pro1212=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 387789	NM_003640.5(ELP1):c.3636G>A (p.Pro1212=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 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 526204	NM_003640.5(ELP1):c.3573-7C>G	ELP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 577154	NM_003640.5(ELP1):c.3572+5G>C	ELP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 577074	NM_003640.5(ELP1):c.3572+5G>T	ELP1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 651159	NM_003640.5(ELP1):c.3572+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +1 more	GLikely pathogenic
Select item 989517	NM_003640.5(ELP1):c.3570A>G (p.Ser1190=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763407	NM_003640.5(ELP1):c.3561C>T (p.Ser1187=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 960696	NM_003640.5(ELP1):c.3521G>A (p.Ser1174Asn)	ELP1 (S1060N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364556	NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 989518	NM_003640.5(ELP1):c.3495C>G (p.Leu1165=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989519	NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe)	ELP1 (L1051F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364557	NM_003640.5(ELP1):c.3492C>T (p.Asp1164=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +1 more	GBenign
Select item 652169	NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)	ELP1 (G1160R +2 more)	Single nucleotide variant (missense variant)	not specified +1 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 364558	NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 259113	NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu)	ELP1 (P1158L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 1066986	NM_003640.5(ELP1):c.3460+1G>A	ELP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 703765	NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)	ELP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989520	NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys)	ELP1 (R1023C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426637	NM_003640.5(ELP1):c.3398G>A (p.Arg1133His)	ELP1 (R1133H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 551755	NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)	ELP1 (R1133C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1016790	NM_003640.5(ELP1):c.3375C>G (p.Asp1125Glu)	ELP1 (D1011E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 380135	NM_003640.5(ELP1):c.3347-15A>G	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 382378	NM_003640.5(ELP1):c.3346+7G>T	ELP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 364560	NM_003640.5(ELP1):c.3346+6G>C	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia	GUncertain significance
Select item 553813	NM_003640.5(ELP1):c.3346+1G>A	ELP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 998969	NM_003640.5(ELP1):c.3337A>C (p.Ile1113Leu)	ELP1 (I1113L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011506	NM_003640.5(ELP1):c.3326T>C (p.Val1109Ala)	ELP1 (V1109A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 579518	NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)	ELP1 (V1109I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 137582	NM_003640.5(ELP1):c.3285+9C>T	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +2 more	GBenign
Select item 576667	NM_003640.5(ELP1):c.3285+6A>T	ELP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 242294	NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)	ELP1 (R1094G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 965278	NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val)	ELP1 (A965V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964658	NM_003640.5(ELP1):c.3222+4A>T	ELP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1082147	NM_003640.5(ELP1):c.3219C>A (p.Ala1073=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259112	NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser)	ELP1 (C1072S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 989521	NM_003640.5(ELP1):c.3195G>A (p.Ala1065=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638912	NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)	ELP1 (A1065V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732625	NM_003640.5(ELP1):c.3183G>A (p.Lys1061=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 784770	NM_003640.5(ELP1):c.3153T>A (p.Thr1051=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 526188	NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn)	ELP1 (K1042N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844456	NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp)	ELP1 (N913D +2 more)	Single nucleotide variant (missense variant)	not provided	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 259111	NM_003640.5(ELP1):c.3069G>C (p.Leu1023=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GBenign
Select item 947057	NM_003640.5(ELP1):c.3066T>A (p.Phe1022Leu)	ELP1 (F908L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 845927	NM_003640.5(ELP1):c.3062C>T (p.Ala1021Val)	ELP1 (A907V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1063246	NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys)	ELP1 (E1016K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1107877	NM_003640.5(ELP1):c.3045C>T (p.His1015=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 937054	NM_003640.5(ELP1):c.3043C>T (p.His1015Tyr)	ELP1 (H666Y +2 more)	Single nucleotide variant (missense variant)	not provided	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

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