MRGPRX4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2488410	NM_054032.3(MRGPRX4):c.17C>G (p.Pro6Arg)	MRGPRX4 (P6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295161	NM_054032.3(MRGPRX4):c.53G>A (p.Arg18His)	MRGPRX4 (R18H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596899	NM_054032.3(MRGPRX4):c.64C>T (p.Pro22Ser)	MRGPRX4 (P22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242151	NM_054032.3(MRGPRX4):c.95T>G (p.Val32Gly)	MRGPRX4 (V32G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210400	NM_054032.3(MRGPRX4):c.109A>G (p.Ile37Val)	MRGPRX4 (I37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304390	NM_054032.3(MRGPRX4):c.150G>C (p.Trp50Cys)	MRGPRX4 (W50C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518610	NM_054032.3(MRGPRX4):c.170G>A (p.Arg57His)	MRGPRX4 (R57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372265	NM_054032.3(MRGPRX4):c.238A>C (p.Ile80Leu)	MRGPRX4 (I80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399005	NM_054032.3(MRGPRX4):c.344C>A (p.Ala115Asp)	MRGPRX4 (A115D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787904	NM_054032.3(MRGPRX4):c.370G>A (p.Val124Ile)	MRGPRX4 (V124I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768431	NM_054032.3(MRGPRX4):c.424G>A (p.Val142Met)	MRGPRX4 (V142M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2461209	NM_054032.3(MRGPRX4):c.443G>A (p.Gly148Asp)	MRGPRX4 (G148D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768432	NM_054032.3(MRGPRX4):c.449C>T (p.Ser150Phe)	MRGPRX4 (S150F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384222	NM_054032.3(MRGPRX4):c.578T>A (p.Val193Asp)	MRGPRX4 (V193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616489	NM_054032.3(MRGPRX4):c.670G>A (p.Val224Ile)	MRGPRX4 (V224I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284712	NM_054032.3(MRGPRX4):c.773T>C (p.Met258Thr)	MRGPRX4 (M258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774894	NM_054032.3(MRGPRX4):c.806C>T (p.Pro269Leu)	MRGPRX4 (P269L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347080	NM_054032.3(MRGPRX4):c.826G>T (p.Gly276Cys)	MRGPRX4 (G276C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515312	NM_054032.3(MRGPRX4):c.842G>A (p.Arg281His)	MRGPRX4 (R281H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382470	NM_054032.3(MRGPRX4):c.914A>G (p.Glu305Gly)	MRGPRX4 (E305G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347081	NM_054032.3(MRGPRX4):c.940G>C (p.Glu314Gln)	MRGPRX4 (E314Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	TSG101, UEVLD +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	MYOD1, NAV2 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 687899	GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3	ABCC8, C11orf58 +22 more	Copy number gain	not provided	GUncertain significance
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 424640	GRCh37/hg19 11p15.1(chr11:17899742-18258290)x3	SAA2-SAA4, SAA4 +6 more	Copy number gain	not specified	GLikely benign
Select item 394478	GRCh37/hg19 11p15.1(chr11:18174853-18195520)x1	MRGPRX4	Copy number loss	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39