Related gene-specific medical variations for Gene (Select 6051) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314965	NM_020216.4(RNPEP):c.1747G>A (p.Asp583Asn)	ELF3-AS1, RNPEP (D583N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155541	NM_020216.4(RNPEP):c.434G>A (p.Gly145Glu)	LOC129932234, RNPEP (G145E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155540	NM_020216.4(RNPEP):c.41G>A (p.Arg14Gln)	LOC129932234, RNPEP (R14Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155539	NM_020216.4(RNPEP):c.278T>C (p.Leu93Pro)	LOC129932234, RNPEP (L93P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155538	NM_020216.4(RNPEP):c.1933G>A (p.Val645Met)	ELF3-AS1, RNPEP (V514M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155536	NM_020216.4(RNPEP):c.1673A>G (p.Asp558Gly)	ELF3-AS1, RNPEP (D558G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155535	NM_020216.4(RNPEP):c.1557G>A (p.Met519Ile)	ELF3-AS1, RNPEP (M519I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155534	NM_020216.4(RNPEP):c.1541C>T (p.Ala514Val)	ELF3-AS1, RNPEP (A383V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155533	NM_020216.4(RNPEP):c.152G>A (p.Gly51Glu)	LOC129932234, RNPEP (G51E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155532	NM_020216.4(RNPEP):c.1261G>A (p.Val421Ile)	ELF3-AS1, RNPEP (V421I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155529	NM_020216.4(RNPEP):c.103G>A (p.Glu35Lys)	LOC129932234, RNPEP (E35K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609465	NM_020216.4(RNPEP):c.71A>T (p.Asp24Val)	LOC129932234, RNPEP (D24V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547885	NM_020216.4(RNPEP):c.1205G>A (p.Gly402Asp)	ELF3-AS1, RNPEP (G112D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486248	NM_020216.4(RNPEP):c.145C>T (p.Pro49Ser)	LOC129932234, RNPEP (P49S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2476062	NM_020216.4(RNPEP):c.1268A>T (p.Tyr423Phe)	ELF3-AS1, RNPEP (Y133F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399438	NM_020216.4(RNPEP):c.1207G>A (p.Val403Ile)	ELF3-AS1, RNPEP (V113I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390057	NM_020216.4(RNPEP):c.187G>A (p.Ala63Thr)	LOC129932234, RNPEP (A63T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382416	NM_020216.4(RNPEP):c.1715G>A (p.Arg572Gln)	ELF3-AS1, RNPEP (R441Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367172	NM_020216.4(RNPEP):c.1565T>C (p.Ile522Thr)	ELF3-AS1, RNPEP (I232T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358515	NM_020216.4(RNPEP):c.1510C>G (p.Pro504Ala)	ELF3-AS1, RNPEP (P373A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358371	NM_020216.4(RNPEP):c.374C>T (p.Ser125Phe)	LOC129932234, RNPEP (S125F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354553	NM_020216.4(RNPEP):c.1297C>G (p.Gln433Glu)	ELF3-AS1, RNPEP (Q302E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343204	NM_020216.4(RNPEP):c.290G>T (p.Arg97Leu)	LOC129932234, RNPEP (R97L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342167	NM_020216.4(RNPEP):c.1841G>T (p.Gly614Val)	ELF3-AS1, RNPEP (G614V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284202	NM_020216.4(RNPEP):c.1358A>C (p.Asp453Ala)	ELF3-AS1, RNPEP (D163A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276901	NM_020216.4(RNPEP):c.1844G>A (p.Ser615Asn)	ELF3-AS1, RNPEP (S325N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274753	NM_020216.4(RNPEP):c.181G>T (p.Gly61Cys)	LOC129932234, RNPEP (G61C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253386	NM_020216.4(RNPEP):c.5C>T (p.Ala2Val)	LOC129932234, RNPEP (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211068	NM_020216.4(RNPEP):c.397G>T (p.Ala133Ser)	LOC129932234, RNPEP (A133S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 29