ClinVar for Gene (Select 27288) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152520	NM_014469.5(RBMXL2):c.943T>C (p.Ser315Pro)	NLRP14, RBMXL2 (S315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152519	NM_014469.5(RBMXL2):c.877G>A (p.Ala293Thr)	NLRP14, RBMXL2 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152518	NM_014469.5(RBMXL2):c.548C>G (p.Ala183Gly)	NLRP14, RBMXL2 (A183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152517	NM_014469.5(RBMXL2):c.519C>G (p.Ser173Arg)	NLRP14, RBMXL2 (S173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152516	NM_014469.5(RBMXL2):c.284G>A (p.Gly95Asp)	NLRP14, RBMXL2 (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152515	NM_014469.5(RBMXL2):c.277C>T (p.Arg93Trp)	NLRP14, RBMXL2 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152513	NM_014469.5(RBMXL2):c.1099C>G (p.Arg367Gly)	NLRP14, RBMXL2 (R367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152512	NM_014469.5(RBMXL2):c.1024C>T (p.Arg342Trp)	NLRP14, RBMXL2 (R342W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684635	GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3	NLRP14, OR10A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2602801	NM_014469.5(RBMXL2):c.493G>A (p.Ala165Thr)	NLRP14, RBMXL2 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550012	NM_014469.5(RBMXL2):c.935G>A (p.Arg312Gln)	NLRP14, RBMXL2 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546090	NM_014469.5(RBMXL2):c.523G>C (p.Gly175Arg)	NLRP14, RBMXL2 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540658	NM_014469.5(RBMXL2):c.941A>G (p.Tyr314Cys)	NLRP14, RBMXL2 (Y314C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520821	NM_014469.5(RBMXL2):c.811G>A (p.Gly271Arg)	NLRP14, RBMXL2 (G271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2489163	NM_014469.5(RBMXL2):c.686G>A (p.Arg229Gln)	NLRP14, RBMXL2 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475829	NM_014469.5(RBMXL2):c.1055T>A (p.Leu352Gln)	NLRP14, RBMXL2 (L352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457671	NM_014469.5(RBMXL2):c.580C>A (p.Pro194Thr)	RBMXL2, NLRP14 (P194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397498	NM_014469.5(RBMXL2):c.610G>A (p.Asp204Asn)	NLRP14, RBMXL2 (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389103	NM_014469.5(RBMXL2):c.226G>A (p.Gly76Ser)	NLRP14, RBMXL2 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349212	NM_014469.5(RBMXL2):c.11C>G (p.Ala4Gly)	NLRP14, RBMXL2 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343922	NM_014469.5(RBMXL2):c.1052C>G (p.Ser351Cys)	NLRP14, RBMXL2 (S351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288236	NM_014469.5(RBMXL2):c.677G>A (p.Arg226His)	NLRP14, RBMXL2 (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285241	NM_014469.5(RBMXL2):c.383A>T (p.Asp128Val)	NLRP14, RBMXL2 (D128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275921	NM_014469.5(RBMXL2):c.494C>T (p.Ala165Val)	NLRP14, RBMXL2 (A165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263334	NM_014469.5(RBMXL2):c.283G>T (p.Gly95Cys)	NLRP14, RBMXL2 (G95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261840	NM_014469.5(RBMXL2):c.533G>A (p.Arg178His)	NLRP14, RBMXL2 (R178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261282	NM_014469.5(RBMXL2):c.1049T>C (p.Leu350Pro)	NLRP14, RBMXL2 (L350P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259487	NM_014469.5(RBMXL2):c.419G>A (p.Arg140Gln)	NLRP14, RBMXL2 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241450	NM_014469.5(RBMXL2):c.665G>C (p.Ser222Thr)	NLRP14, RBMXL2 (S222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230377	NM_014469.5(RBMXL2):c.299G>C (p.Arg100Pro)	NLRP14, RBMXL2 (R100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224039	NM_014469.5(RBMXL2):c.1151A>G (p.Glu384Gly)	NLRP14, RBMXL2 (E384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204644	NM_014469.5(RBMXL2):c.370C>G (p.Arg124Gly)	NLRP14, RBMXL2 (R124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1288221	NM_014469.5(RBMXL2):c.12G>A (p.Ala4=)	RBMXL2, NLRP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1286832	NM_014469.5(RBMXL2):c.-115C>G	NLRP14, RBMXL2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1286801	NM_014469.5(RBMXL2):c.-109G>C	NLRP14, RBMXL2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1266867	NM_014469.5(RBMXL2):c.400A>G (p.Thr134Ala)	NLRP14, RBMXL2 (T134A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1252432	NC_000011.10:g.7088922T>C	NLRP14, RBMXL2	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1246934	NC_000011.10:g.7088691_7088693dup	NLRP14, RBMXL2	Duplication (genic downstream transcript variant)	not provided	GBenign
Select item 1237551	NM_014469.5(RBMXL2):c.197C>T (p.Ala66Val)	NLRP14, RBMXL2 (A66V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56