ClinVar for Gene (Select 135250) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312538	NM_001394057.1(RAET1E):c.617C>T (p.Pro206Leu)	RAET1E, RAET1E-AS1 +1 more (P206L +1 more)	Single nucleotide variant (non-coding transcript variant +1 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 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 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 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 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 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2684457	GRCh37/hg19 6q25.1(chr6:150127440-150330806)x3	LRP11, PCMT1 +4 more	Copy number gain	not provided	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 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 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 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 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 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 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 2366632	NM_001394057.1(RAET1E):c.302T>C (p.Leu101Pro)	RAET1E, RAET1E-AS1 +1 more (L101P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	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 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
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 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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35