Related gene-specific medical variations for Gene (Select 83943) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292102	NM_001099658.2(LRRN3):c.1697C>T (p.Ala566Val)	IMMP2L, LRRN3 (A566V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121182	NM_001099658.2(LRRN3):c.691G>A (p.Ala231Thr)	IMMP2L, LRRN3 (A231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121181	NM_001099658.2(LRRN3):c.2020G>T (p.Gly674Cys)	IMMP2L, LRRN3 (G674C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121180	NM_001099658.2(LRRN3):c.2014G>C (p.Ala672Pro)	IMMP2L, LRRN3 (A672P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121179	NM_001099658.2(LRRN3):c.1802A>T (p.Lys601Ile)	IMMP2L, LRRN3 (K601I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121178	NM_001099658.2(LRRN3):c.1709G>A (p.Arg570Gln)	IMMP2L, LRRN3 (R570Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121177	NM_001099658.2(LRRN3):c.1228G>A (p.Val410Met)	IMMP2L, LRRN3 (V410M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121176	NM_001099658.2(LRRN3):c.1222C>T (p.Arg408Trp)	IMMP2L, LRRN3 (R408W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121175	NM_001099658.2(LRRN3):c.1061T>C (p.Ile354Thr)	IMMP2L, LRRN3 (I354T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612044	NM_001099658.2(LRRN3):c.1243A>G (p.Met415Val)	IMMP2L, LRRN3 (M415V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605096	NM_001099658.2(LRRN3):c.781A>C (p.Asn261His)	IMMP2L, LRRN3 (N261H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548260	NM_001099658.2(LRRN3):c.1090A>G (p.Ser364Gly)	IMMP2L, LRRN3 (S364G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528268	NM_001099658.2(LRRN3):c.2075C>A (p.Thr692Lys)	IMMP2L, LRRN3 (T692K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524316	NM_001099658.2(LRRN3):c.1304A>C (p.Glu435Ala)	IMMP2L, LRRN3 (E435A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521038	NM_001099658.2(LRRN3):c.1976A>G (p.His659Arg)	IMMP2L, LRRN3 (H659R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478586	NM_001099658.2(LRRN3):c.1484C>T (p.Thr495Ile)	IMMP2L, LRRN3 (T495I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460099	NM_001099658.2(LRRN3):c.1898T>G (p.Leu633Arg)	IMMP2L, LRRN3 (L633R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455986	NM_001099658.2(LRRN3):c.476C>G (p.Ala159Gly)	IMMP2L, LRRN3 (A159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395160	NM_001099658.2(LRRN3):c.827G>A (p.Arg276Gln)	IMMP2L, LRRN3 (R276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388921	NM_001099658.2(LRRN3):c.1510G>A (p.Ala504Thr)	IMMP2L, LRRN3 (A504T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385253	NM_001099658.2(LRRN3):c.7G>T (p.Asp3Tyr)	IMMP2L, LRRN3 (D3Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359640	NM_001099658.2(LRRN3):c.265G>A (p.Asp89Asn)	IMMP2L, LRRN3 (D89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336408	NM_001099658.2(LRRN3):c.1529T>C (p.Met510Thr)	IMMP2L, LRRN3 (M510T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324742	NM_001099658.2(LRRN3):c.91C>T (p.Arg31Trp)	IMMP2L, LRRN3 (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324183	NM_001099658.2(LRRN3):c.1853A>C (p.Gln618Pro)	IMMP2L, LRRN3 (Q618P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318246	NM_001099658.2(LRRN3):c.862G>C (p.Glu288Gln)	IMMP2L, LRRN3 (E288Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312898	NM_001099658.2(LRRN3):c.1594A>C (p.Ile532Leu)	IMMP2L, LRRN3 (I532L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288227	NM_001099658.2(LRRN3):c.1199C>A (p.Pro400His)	IMMP2L, LRRN3 (P400H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257866	NM_001099658.2(LRRN3):c.328A>G (p.Ile110Val)	IMMP2L, LRRN3 (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247463	NM_001099658.2(LRRN3):c.2036C>A (p.Pro679His)	IMMP2L, LRRN3 (P679H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222726	NM_001099658.2(LRRN3):c.1358A>T (p.Glu453Val)	IMMP2L, LRRN3 (E453V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222571	NM_001099658.2(LRRN3):c.13C>A (p.Pro5Thr)	IMMP2L, LRRN3 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810319	GRCh37/hg19 7q31.1(chr7:111138678-111202263)x1	IMMP2L	Copy number loss	not provided	Gnot provided
Select item 1339883	GRCh37/hg19 7q31.1(chr7:111051119-111197513)x1	IMMP2L	Copy number loss	not provided	Gnot provided
Select item 815020	GRCh37/hg19 7q31.1(chr7:110423429-110719583)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 815019	GRCh37/hg19 7q31.1(chr7:110234288-110329175)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 788359	NM_001099658.2(LRRN3):c.675A>G (p.Thr225=)	LRRN3, IMMP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778353	NM_001099658.2(LRRN3):c.92G>A (p.Arg31Gln)	IMMP2L, LRRN3 (R31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776255	NM_001099658.2(LRRN3):c.1131T>C (p.Arg377=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776254	NM_001099658.2(LRRN3):c.900C>T (p.Ile300=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688788	GRCh37/hg19 7q31.1(chr7:110585546-110616789)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688622	GRCh37/hg19 7q31.1(chr7:111053988-111200668)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688447	GRCh37/hg19 7q31.1(chr7:111053988-111197390)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688081	GRCh37/hg19 7q31.1(chr7:111111987-111224159)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 686817	GRCh37/hg19 7q31.1(chr7:111022959-111294883)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 685749	GRCh37/hg19 7q31.1(chr7:110964443-111132612)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 685274	GRCh37/hg19 7q31.1(chr7:111053988-111200668)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 685213	GRCh37/hg19 7q31.1(chr7:111106542-111262151)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 157069	NC_000007.14:g.111429890_111526109dup	IMMP2L	Duplication	Normal pregnancy	Gnot provided
Select item 157068	NM_001244606.1(IMMP2L):c.239+53584_239+101346del	IMMP2L	Deletion	Preeclampsia	Gnot provided

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Links from Gene

Items: 50