RAET1E-AS1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 3120162	NM_032832.6(LRP11):c.457C>T (p.Pro153Ser)	LRP11, RAET1E-AS1 +1 more (P153S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120161	NM_032832.6(LRP11):c.409G>C (p.Glu137Gln)	LRP11, RAET1E-AS1 +1 more (E137Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120160	NM_032832.6(LRP11):c.269C>T (p.Pro90Leu)	LOC129997444, LRP11 +2 more (P90L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2536967	NM_032832.6(LRP11):c.86G>A (p.Cys29Tyr)	LOC129997445, LRP11 +2 more (C29Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120163	NM_032832.6(LRP11):c.50C>T (p.Pro17Leu)	LOC129997445, LRP11 +2 more (P17L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2535582	NM_001394057.1(RAET1E):c.742T>G (p.Trp248Gly)	RAET1E, RAET1E-AS1 +1 more (W212G +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3151168	NM_001394057.1(RAET1E):c.650A>C (p.His217Pro)	RAET1E, RAET1E-AS1 +1 more (H217P +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2305173	NM_001394057.1(RAET1E):c.638C>T (p.Ala213Val)	RAET1E, RAET1E-AS1 +1 more (A177V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2379203	NM_001394057.1(RAET1E):c.562G>A (p.Asp188Asn)	RAET1E, RAET1E-AS1 +1 more (D188N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615907	NM_001394057.1(RAET1E):c.538T>A (p.Tyr180Asn)	RAET1E, RAET1E-AS1 +1 more (Y180N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3151167	NM_001394057.1(RAET1E):c.480T>G (p.Ile160Met)	RAET1E, RAET1E-AS1 +1 more (I124M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2612428	NM_001394057.1(RAET1E):c.465G>A (p.Met155Ile)	RAET1E, RAET1E-AS1 +1 more (M119I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366151	NM_001394057.1(RAET1E):c.454G>T (p.Ala152Ser)	RAET1E, RAET1E-AS1 +1 more (A116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366711	NM_001394057.1(RAET1E):c.428A>G (p.Asn143Ser)	RAET1E, RAET1E-AS1 +1 more (N107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385433	NM_001394057.1(RAET1E):c.395G>A (p.Arg132Gln)	RAET1E, RAET1E-AS1 +1 more (R132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151166	NM_001394057.1(RAET1E):c.394C>T (p.Arg132Trp)	RAET1E, RAET1E-AS1 +1 more (R132W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366632	NM_001394057.1(RAET1E):c.302T>C (p.Leu101Pro)	RAET1E, RAET1E-AS1 +1 more (L101P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151164	NM_001394057.1(RAET1E):c.260G>T (p.Trp87Leu)	RAET1E, RAET1E-AS1 +1 more (W87L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3151163	NM_001394057.1(RAET1E):c.248C>T (p.Ala83Val)	RAET1E, RAET1E-AS1 +1 more (A83V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3151162	NM_001394057.1(RAET1E):c.247G>T (p.Ala83Ser)	RAET1E, RAET1E-AS1 +1 more (A47S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604333	NM_001394057.1(RAET1E):c.208A>T (p.Met70Leu)	RAET1E, RAET1E-AS1 +1 more (M34L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3151165	NM_001394057.1(RAET1E):c.34C>T (p.Arg12Cys)	RAET1E, RAET1E-AS1 +1 more (R12C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293131	NM_001001788.4(RAET1G):c.710T>C (p.Met237Thr)	RAET1E-AS1, RAET1G (M237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151173	NM_001001788.4(RAET1G):c.599G>A (p.Gly200Asp)	RAET1E-AS1, RAET1G (G200D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385442	NM_001001788.4(RAET1G):c.535A>G (p.Thr179Ala)	RAET1E-AS1, RAET1G (T179A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463485	NM_001001788.4(RAET1G):c.532A>G (p.Met178Val)	RAET1E-AS1, RAET1G (M178V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477645	NM_001001788.4(RAET1G):c.470T>C (p.Met157Thr)	RAET1E-AS1, RAET1G (M157T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267735	NM_001001788.4(RAET1G):c.434G>A (p.Gly145Glu)	RAET1E-AS1, RAET1G (G145E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3151172	NM_001001788.4(RAET1G):c.406A>T (p.Ser136Cys)	RAET1E-AS1, RAET1G (S136C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520173	NM_001001788.4(RAET1G):c.403G>A (p.Gly135Ser)	RAET1E-AS1, RAET1G (G135S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2311722	NM_001001788.4(RAET1G):c.386A>G (p.Gln129Arg)	RAET1E-AS1, RAET1G (Q129R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 38