Related gene-specific medical variations for Gene (Select 8518) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360635	NM_003640.5(ELP1):c.2033G>A (p.Ser678Asn)	ELP1 (S329N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245323	NC_000009.11:g.(?_111674524)_(111693426_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245322	NC_000009.11:g.(?_111640255)_(111662675_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245321	NC_000009.11:g.(?_111631395)_(111663981_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245320	NC_000009.11:g.(?_111679807)_(111679970_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245319	NC_000009.11:g.(?_111678464)_(111678597_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3063100	GRCh37/hg19 9q31.3(chr9:111657648-111674731)x1	ELP1	Copy number loss	not specified	GUncertain significance
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 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 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 991323	NM_003640.5(ELP1):c.-45T>C	ELP1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 991322	NM_003640.5(ELP1):c.-38A>G	ELP1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 991321	NM_003640.5(ELP1):c.-22G>T	ELP1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial dysautonomia	GLikely benign
Select item 991317	NM_003640.5(ELP1):c.334A>G (p.Ile112Val)	ELP1 (I112V)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 991314	NM_003640.5(ELP1):c.608A>T (p.Asp203Val)	ELP1 (D203V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 991313	NM_003640.5(ELP1):c.653C>T (p.Ala218Val)	ELP1 (A104V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysautonomia	GUncertain significance
Select item 990662	NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)	ELP1 (T226A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysautonomia +1 more	GUncertain significance
Select item 990659	NM_003640.5(ELP1):c.1278A>G (p.Gln426=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia	GUncertain significance
Select item 990657	NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr)	ELP1 (I334T +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 990656	NM_003640.5(ELP1):c.1361-3C>A	ELP1	Single nucleotide variant (intron variant)	Familial dysautonomia	GUncertain significance
Select item 990654	NM_003640.5(ELP1):c.1586A>G (p.His529Arg)	ELP1 (H180R +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 990652	NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser)	ELP1 (C271S +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 990651	NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu)	ELP1 (F281L +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	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 990648	NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe)	ELP1 (L367F +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 989533	NM_003640.5(ELP1):c.2439G>T (p.Gly813=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia	GUncertain significance
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 989527	NM_003640.5(ELP1):c.2707G>A (p.Val903Ile)	ELP1 (V554I +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	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 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 811224	NM_003640.5(ELP1):c.3128A>G (p.Asp1043Gly)	ELP1 (D1043G +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia	GUncertain significance
Select item 618179	NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn)	ELP1 (S803N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 32