ClinVar for Gene (Select 154064) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312548	NM_130900.3(RAET1L):c.442T>C (p.Phe148Leu)	RAET1L (F148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312547	NM_130900.3(RAET1L):c.671C>T (p.Ala224Val)	RAET1L (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312546	NM_130900.3(RAET1L):c.84C>G (p.Asp28Glu)	RAET1L (D28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312545	NM_130900.3(RAET1L):c.553A>C (p.Ile185Leu)	RAET1L (I185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151179	NM_130900.3(RAET1L):c.689T>C (p.Ile230Thr)	RAET1L (I230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151177	NM_130900.3(RAET1L):c.619C>A (p.Pro207Thr)	RAET1L (P207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151176	NM_130900.3(RAET1L):c.575G>A (p.Gly192Glu)	RAET1L (G192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151175	NM_130900.3(RAET1L):c.539T>A (p.Met180Lys)	RAET1L (M180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151174	NM_130900.3(RAET1L):c.530A>T (p.Asp177Val)	RAET1L (D177V)	Single nucleotide variant (missense variant)	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 2611649	NM_130900.3(RAET1L):c.319G>A (p.Asp107Asn)	RAET1L (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605180	NM_130900.3(RAET1L):c.113C>A (p.Thr38Asn)	RAET1L (T38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546971	NM_130900.3(RAET1L):c.400C>T (p.His134Tyr)	RAET1L (H134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520231	NM_130900.3(RAET1L):c.158A>C (p.Gln53Pro)	RAET1L (Q53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473603	NM_130900.3(RAET1L):c.361C>G (p.Leu121Val)	RAET1L (L121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363348	NM_130900.3(RAET1L):c.142C>T (p.Arg48Trp)	RAET1L (R48W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328883	NM_130900.3(RAET1L):c.359C>T (p.Thr120Ile)	RAET1L (T120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269614	NM_130900.3(RAET1L):c.460G>A (p.Glu154Lys)	RAET1L (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268849	NM_130900.3(RAET1L):c.391G>A (p.Ala131Thr)	RAET1L (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258380	NM_130900.3(RAET1L):c.29T>C (p.Leu10Pro)	RAET1L (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238920	NM_130900.3(RAET1L):c.572T>C (p.Ile191Thr)	RAET1L (I191T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227860	NM_130900.3(RAET1L):c.433G>A (p.Gly145Arg)	RAET1L (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 781013	NM_130900.3(RAET1L):c.369A>C (p.Ala123=)	RAET1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776172	NM_130900.3(RAET1L):c.362T>C (p.Leu121Pro)	RAET1L (L121P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738196	NM_130900.3(RAET1L):c.18C>A (p.Ile6=)	RAET1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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

ClinVar

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Links from Gene

Items: 39