C0013364[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 72

	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 552299	NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter)	ELP1 (E1313* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GUncertain significance
Select item 364550	NM_003640.5(ELP1):c.3931+14C>G	ELP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551259	NM_003640.5(ELP1):c.3931+1G>T	ELP1	Single nucleotide variant (splice donor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 556526	NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter)	ELP1 (S1306* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GUncertain significance
Select item 555814	NM_003640.5(ELP1):c.3784dup (p.Thr1262fs)	ELP1 (T1148fs +2 more)	Duplication (frameshift variant)	Familial dysautonomia	GUncertain significance
Select item 552298	NM_003640.5(ELP1):c.3701-1G>A	ELP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 550282	NM_003640.5(ELP1):c.3701-6C>G	ELP1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 496211	NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)	ELP1 (D1101fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554171	NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del)	ELP1 (K1208del +2 more)	Deletion (inframe_deletion)	Familial dysautonomia	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 364555	NM_003640.5(ELP1):c.3590G>A (p.Arg1197His)	ELP1 (R1197H +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 526204	NM_003640.5(ELP1):c.3573-7C>G	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia +1 more	GConflicting classifications of pathogenicity
Select item 364559	NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile)	ELP1 (V1157I +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 551755	NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)	ELP1 (R1133C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 555978	NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup)	ELP1	Duplication (inframe_insertion)	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 550284	NM_003640.5(ELP1):c.3223-16C>G	ELP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 558620	NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del)	ELP1	Deletion (inframe_deletion)	Familial dysautonomia	GUncertain significance
Select item 552277	NM_003640.5(ELP1):c.2958+1G>C	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +1 more	GLikely pathogenic
Select item 370227	NM_003640.5(ELP1):c.2860+2T>C	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +1 more	GLikely pathogenic
Select item 370257	NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)	ELP1 (Y939* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 364566	NM_003640.5(ELP1):c.2598C>T (p.Pro866=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 552276	NM_003640.5(ELP1):c.2587+2T>G	ELP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 423215	NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)	ELP1 (K720* +2 more)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550320	NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)	ELP1	Duplication (inframe_insertion)	Familial dysautonomia	GUncertain significance
Select item 553680	NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)	ELP1 (E441del +1 more)	Microsatellite (inframe_deletion)	Familial dysautonomia	GUncertain significance
Select item 364567	NM_003640.5(ELP1):c.2370A>G (p.Glu790=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 556132	NM_003640.5(ELP1):c.2308_2310del (p.Phe770del)	ELP1 (F770del +2 more)	Deletion (inframe_deletion)	Familial dysautonomia	GUncertain significance
Select item 552270	NM_003640.5(ELP1):c.2205-1G>C	ELP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 371309	NM_003640.5(ELP1):c.2204+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 370915	NM_003640.5(ELP1):c.2158del (p.His720fs)	ELP1 (H606fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 370735	NM_003640.5(ELP1):c.2076dup (p.Arg693fs)	ELP1 (R579fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556440	NM_003640.5(ELP1):c.2014+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 557193	NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del)	ELP1	Deletion (inframe_deletion)	Familial dysautonomia	GUncertain significance
Select item 526200	NM_003640.5(ELP1):c.1973A>G (p.His658Arg)	ELP1 (H658R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 551898	NM_003640.5(ELP1):c.1941TGA[1] (p.Asp648del)	ELP1 (D648del +2 more)	Microsatellite (inframe_deletion)	Familial dysautonomia	GUncertain significance
Select item 552274	NM_003640.5(ELP1):c.1908+2T>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 552275	NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer)	ELP1	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
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 552456	NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)	ELP1	Deletion (inframe_indel)	Familial dysautonomia +1 more	GUncertain significance
Select item 558541	NM_003640.5(ELP1):c.1751-2A>T	ELP1	Single nucleotide variant (splice acceptor variant)	Familial dysautonomia	GLikely pathogenic
Select item 557775	NM_003640.5(ELP1):c.1750+1G>T	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 556733	NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del)	ELP1 (V570del +2 more)	Microsatellite (inframe_deletion)	Familial dysautonomia	GUncertain significance
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 77502	NM_003640.5(ELP1):c.1542C>T (p.Phe514=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GLikely benign
Select item 552191	NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer)	ELP1	Deletion (nonsense)	Familial dysautonomia	GLikely pathogenic
Select item 556902	NM_003640.5(ELP1):c.1461-1G>A	ELP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 552194	NM_003640.5(ELP1):c.1461-1G>T	ELP1	Single nucleotide variant (splice acceptor variant)	Familial dysautonomia +1 more	GLikely pathogenic
Select item 498695	NM_003640.5(ELP1):c.1461-2A>G	ELP1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553041	NM_003640.5(ELP1):c.1360+1G>T	ELP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 552244	NM_003640.5(ELP1):c.1189+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 552243	NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)	ELP1	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553344	NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del)	ELP1	Deletion (5 prime UTR variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 553108	NM_003640.5(ELP1):c.641del (p.Pro214fs)	ELP1 (P100fs +1 more)	Deletion (frameshift variant +1 more)	Medulloblastoma +3 more	GPathogenic/Likely pathogenic
Select item 552300	NM_003640.5(ELP1):c.552+2dup	ELP1	Duplication (splice donor variant)	Familial dysautonomia	GUncertain significance
Select item 552684	NM_003640.5(ELP1):c.552+2T>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +1 more	GLikely pathogenic
Select item 557099	NM_003640.5(ELP1):c.552+1G>T	ELP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 552783	NM_003640.5(ELP1):c.386-2A>C	ELP1	Single nucleotide variant (splice acceptor variant)	Familial dysautonomia	GLikely pathogenic
Select item 558252	NM_003640.5(ELP1):c.385+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +1 more	GLikely pathogenic
Select item 552242	NM_003640.5(ELP1):c.304-2A>G	ELP1	Single nucleotide variant (splice acceptor variant)	Familial dysautonomia +2 more	GLikely pathogenic
Select item 364584	NM_003640.5(ELP1):c.169T>C (p.Leu57=)	ELP1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 558396	NM_003640.5(ELP1):c.151-1G>T	ELP1	Single nucleotide variant (splice acceptor variant)	Familial dysautonomia	GLikely pathogenic
Select item 552705	NM_003640.5(ELP1):c.151-1G>A	ELP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 557337	NM_003640.5(ELP1):c.147_150+1dup	ELP1	Duplication (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 553976	NM_003640.5(ELP1):c.150+1G>A	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia	GLikely pathogenic
Select item 555432	NM_003640.5(ELP1):c.97del (p.Val33fs)	ELP1 (V33fs)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552197	NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)	ELP1 (R27*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552308	NM_003640.5(ELP1):c.54del (p.Asn20fs)	ELP1 (N20fs)	Deletion (5 prime UTR variant +2 more)	Familial dysautonomia	GLikely pathogenic
Select item 552235	NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)	ELP1 (R2*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552267	NM_003640.5(ELP1):c.1A>T (p.Met1Leu)	ELP1 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial dysautonomia	GLikely pathogenic
Select item 503903	NM_003640.5(ELP1):c.-59_-56+15del	ELP1	Deletion (splice donor variant)	not provided +1 more	GUncertain significance

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Items: 72