RGMB[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59445	GRCh38/hg38 5q15(chr5:97716206-98876426)x3	CHD1, LINC01846 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2552838	NM_001366508.1(RGMB):c.37G>A (p.Ala13Thr)	RGMB (A54T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313994	NM_001366508.1(RGMB):c.40G>T (p.Ala14Ser)	RGMB (A54S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313993	NM_001366508.1(RGMB):c.52G>A (p.Glu18Lys)	RGMB (E18K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362293	NM_001366508.1(RGMB):c.71G>A (p.Gly24Glu)	RGMB (G24E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153608	NM_001366508.1(RGMB):c.74T>C (p.Leu25Pro)	RGMB (L66P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530088	NM_001366508.1(RGMB):c.80C>T (p.Pro27Leu)	RGMB (P67L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293885	NM_001366508.1(RGMB):c.83C>G (p.Pro28Arg)	RGMB (P69R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233487	NM_001366508.1(RGMB):c.85C>A (p.Pro29Thr)	RGMB (P69T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553793	NM_001366508.1(RGMB):c.88C>G (p.Leu30Val)	RGMB (L71V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474501	NM_001366508.1(RGMB):c.167T>C (p.Ile56Thr)	LOC126807464, RGMB (I97T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600810	NM_001366508.1(RGMB):c.220G>A (p.Val74Ile)	LOC126807464, RGMB (V114I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313995	NM_001366508.1(RGMB):c.343C>T (p.Leu115Phe)	LOC126807464, RGMB (L115F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550617	NM_001366508.1(RGMB):c.346A>G (p.Met116Val)	LOC126807464, RGMB (M116V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153609	NM_001366508.1(RGMB):c.388A>G (p.Thr130Ala)	LOC126807464, RGMB (T171A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372016	NM_001366508.1(RGMB):c.395C>G (p.Pro132Arg)	LOC126807464, RGMB (P132R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324230	NM_001366508.1(RGMB):c.530A>T (p.Asn177Ile)	LOC126807464, RGMB (N217I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622888	NM_001366508.1(RGMB):c.607C>A (p.Pro203Thr)	LOC126807464, RGMB (P243T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485954	NM_001366508.1(RGMB):c.646A>G (p.Ile216Val)	RGMB (I216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236329	NM_001366508.1(RGMB):c.652A>G (p.Ile218Val)	RGMB (I218V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486478	NM_001366508.1(RGMB):c.671A>G (p.His224Arg)	RGMB (H224R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313996	NM_001366508.1(RGMB):c.680C>T (p.Thr227Ile)	RGMB (T227I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153610	NM_001366508.1(RGMB):c.682G>T (p.Asp228Tyr)	RGMB (D269Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404765	NM_001366508.1(RGMB):c.719C>T (p.Pro240Leu)	RGMB (P240L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548563	NM_001366508.1(RGMB):c.880C>T (p.Arg294Cys)	RGMB (R294C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549535	NM_001366508.1(RGMB):c.892G>A (p.Asp298Asn)	RGMB (D298N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267261	NM_001366508.1(RGMB):c.937G>A (p.Val313Met)	RGMB (V313M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364974	NM_001366508.1(RGMB):c.962G>A (p.Arg321His)	RGMB (R361H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153606	NM_001366508.1(RGMB):c.967G>A (p.Asp323Asn)	RGMB (D363N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513978	NM_001366508.1(RGMB):c.973G>A (p.Gly325Arg)	RGMB (G325R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244913	NM_001366508.1(RGMB):c.979G>A (p.Gly327Ser)	RGMB (G367S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364341	NM_001366508.1(RGMB):c.989C>T (p.Ser330Phe)	RGMB (S330F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153607	NM_001366508.1(RGMB):c.1042G>A (p.Gly348Ser)	RGMB (G389S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355746	NM_001366508.1(RGMB):c.1126C>A (p.Leu376Met)	RGMB (L416M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396908	NM_001366508.1(RGMB):c.1148A>G (p.Asn383Ser)	RGMB (N424S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592257	NM_001366508.1(RGMB):c.1195C>T (p.His399Tyr)	RGMB (H399Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376755	NM_001366508.1(RGMB):c.1301T>C (p.Ile434Thr)	RGMB (I475T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1807997	GRCh37/hg19 5q15-21.1(chr5:97280913-98343588)x3	CHD1, RGMB	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 60