ClinVar for Gene (Select 84918) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3120170	NM_032832.6(LRP11):c.948C>G (p.Phe316Leu)	LRP11, RAET1E-LRP11 (F316L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120169	NM_032832.6(LRP11):c.755C>T (p.Pro252Leu)	LRP11, RAET1E-LRP11 (P252L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120168	NM_032832.6(LRP11):c.721G>A (p.Val241Ile)	LRP11, RAET1E-LRP11 (V241I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120167	NM_032832.6(LRP11):c.695G>A (p.Arg232His)	LRP11, RAET1E-LRP11 (R232H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120166	NM_032832.6(LRP11):c.587C>T (p.Ala196Val)	LOC129997443, LRP11 +1 more (A196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120165	NM_032832.6(LRP11):c.577G>A (p.Ala193Thr)	LOC129997443, LRP11 +1 more (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120164	NM_032832.6(LRP11):c.544A>G (p.Ser182Gly)	LOC129997443, LRP11 +1 more (S182G)	Single nucleotide variant (missense variant)	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 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 3120159	NM_032832.6(LRP11):c.1210G>A (p.Ala404Thr)	LRP11, RAET1E-LRP11 (A404T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3120158	NM_032832.6(LRP11):c.1170G>T (p.Lys390Asn)	LRP11, RAET1E-LRP11 (K390N)	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 2550639	NM_032832.6(LRP11):c.1007C>G (p.Pro336Arg)	LRP11, RAET1E-LRP11 (P336R)	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 2467157	NM_032832.6(LRP11):c.676G>A (p.Gly226Arg)	LRP11, RAET1E-LRP11 (G226R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373067	NM_032832.6(LRP11):c.1295T>C (p.Ile432Thr)	LRP11, RAET1E-LRP11 (I432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352087	NM_032832.6(LRP11):c.571G>C (p.Asp191His)	LOC129997443, LRP11 +1 more (D191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350062	NM_032832.6(LRP11):c.892C>T (p.Arg298Cys)	LRP11, RAET1E-LRP11 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324046	NM_032832.6(LRP11):c.1268G>A (p.Gly423Glu)	LRP11, RAET1E-LRP11 (G423E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294076	NM_032832.6(LRP11):c.1250C>T (p.Pro417Leu)	LRP11, RAET1E-LRP11 (P417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284779	NM_032832.6(LRP11):c.702C>A (p.Ser234Arg)	LRP11, RAET1E-LRP11 (S234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264177	NM_032832.6(LRP11):c.1265C>T (p.Ser422Leu)	LRP11, RAET1E-LRP11 (S422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261177	NM_032832.6(LRP11):c.675C>G (p.Asp225Glu)	LRP11, RAET1E-LRP11 (D225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236946	NM_032832.6(LRP11):c.844G>C (p.Asp282His)	LRP11, RAET1E-LRP11 (D282H)	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 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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 42