MRGPRX2[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 2241350	NM_054030.4(MRGPRX2):c.943G>A (p.Gly315Arg)	MRGPRX2 (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321093	NM_054030.4(MRGPRX2):c.833T>A (p.Ile278Asn)	MRGPRX2 (I278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308291	NM_054030.4(MRGPRX2):c.832A>G (p.Ile278Val)	MRGPRX2 (I278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525012	NM_054030.4(MRGPRX2):c.620T>C (p.Val207Ala)	MRGPRX2 (V207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295863	NM_054030.4(MRGPRX2):c.575T>C (p.Ile192Thr)	MRGPRX2 (I192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267936	NM_054030.4(MRGPRX2):c.524G>A (p.Gly175Asp)	MRGPRX2 (G175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249070	NM_054030.4(MRGPRX2):c.521A>G (p.Asp174Gly)	MRGPRX2 (D174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240109	NM_054030.4(MRGPRX2):c.430C>T (p.His144Tyr)	MRGPRX2 (H144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295862	NM_054030.4(MRGPRX2):c.391G>C (p.Val131Leu)	MRGPRX2 (V131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339768	NM_054030.4(MRGPRX2):c.372C>G (p.Ser124Arg)	MRGPRX2 (S124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204620	NM_054030.4(MRGPRX2):c.368T>G (p.Val123Gly)	MRGPRX2 (V123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551861	NM_054030.4(MRGPRX2):c.355A>G (p.Met119Val)	MRGPRX2 (M119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558212	NM_054030.4(MRGPRX2):c.271A>G (p.Ser91Gly)	MRGPRX2 (S91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204607	NM_054030.4(MRGPRX2):c.205C>G (p.Leu69Val)	MRGPRX2 (L69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209245	NM_054030.4(MRGPRX2):c.202G>A (p.Val68Ile)	MRGPRX2 (V68I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610263	NM_054030.4(MRGPRX2):c.179G>A (p.Arg60His)	MRGPRX2 (R60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204598	NM_054030.4(MRGPRX2):c.178C>T (p.Arg60Cys)	MRGPRX2 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465451	NM_054030.4(MRGPRX2):c.164T>C (p.Leu55Pro)	MRGPRX2 (L55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343998	NM_054030.4(MRGPRX2):c.145G>C (p.Gly49Arg)	MRGPRX2 (G49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204593	NM_054030.4(MRGPRX2):c.137T>C (p.Val46Ala)	MRGPRX2 (V46A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514826	NM_054030.4(MRGPRX2):c.136G>C (p.Val46Leu)	MRGPRX2 (V46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544124	NM_054030.4(MRGPRX2):c.101T>A (p.Val34Asp)	MRGPRX2 (V34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395707	NM_054030.4(MRGPRX2):c.98C>G (p.Pro33Arg)	MRGPRX2 (P33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324784	NM_054030.4(MRGPRX2):c.61G>T (p.Ala21Ser)	MRGPRX2 (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284192	NM_054030.4(MRGPRX2):c.44T>C (p.Val15Ala)	MRGPRX2 (V15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244681	NC_000011.9:g.(?_18418390)_(19213995_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688658	GRCh37/hg19 11p15.1(chr11:18894624-19554521)x3	CSRP3, E2F8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394578	GRCh37/hg19 11p15.1(chr11:18955543-19076609)x3	MRGPRX1, MRGPRX2	Copy number gain	See cases	GBenign
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 43