"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ELP1"[gene - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 364558	NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 242294	NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)	ELP1 (R1094G +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 526202	NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)	ELP1 (T1051A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1799860	NM_003640.5(ELP1):c.3035G>A (p.Cys1012Tyr)	ELP1 (C1012Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 526186	NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)	ELP1 (R1011H +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GUncertain significance
Select item 364565	NM_003640.5(ELP1):c.2799G>A (p.Arg933=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 624364	NM_003640.5(ELP1):c.2787T>C (p.Thr929=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 245634	NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	ELP1 (T848N +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GBenign/Likely benign
Select item 966606	NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)	ELP1 (R582Q +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 390529	NM_003640.5(ELP1):c.2025C>T (p.Ala675=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 364569	NM_003640.5(ELP1):c.1911T>C (p.Val637=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194739	NM_003640.5(ELP1):c.1886G>A (p.Arg629His)	ELP1 (R629H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 765722	NM_003640.5(ELP1):c.1444T>C (p.Leu482=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137573	NM_003640.5(ELP1):c.1230G>A (p.Pro410=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 372384	NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)	ELP1 (R405W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 380994	NM_003640.5(ELP1):c.1143G>A (p.Val381=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 455974	NM_003640.5(ELP1):c.948G>A (p.Pro316=)	ELP1	Single nucleotide variant (synonymous variant +1 more)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 364581	NM_003640.5(ELP1):c.209G>A (p.Arg70His)	ELP1 (R70H)	Single nucleotide variant (5 prime UTR variant +1 more)	ELP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 285240	NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)	ELP1 (R70C)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 1335733	NM_003640.5(ELP1):c.93G>T (p.Gly31=)	ELP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 364586	NM_003640.5(ELP1):c.-155A>T	ELP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 22