RBM46[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	AADAT, ANP32C +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	ARFIP1, DCHS2 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	See cases	GPathogenic
Select item 2319268	NM_144979.5(RBM46):c.11A>T (p.Glu4Val)	RBM46 (E4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545225	NM_144979.5(RBM46):c.29A>T (p.Asn10Ile)	RBM46 (N10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612213	NM_144979.5(RBM46):c.506T>C (p.Val169Ala)	RBM46 (V169A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403935	NM_144979.5(RBM46):c.730A>G (p.Met244Val)	RBM46 (M244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394998	NM_144979.5(RBM46):c.895G>A (p.Ala299Thr)	RBM46 (A299T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285336	NM_144979.5(RBM46):c.976A>C (p.Asn326His)	RBM46 (N326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249309	NM_144979.5(RBM46):c.979T>A (p.Ser327Thr)	RBM46 (S327T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258211	NM_144979.5(RBM46):c.1149G>A (p.Met383Ile)	RBM46 (M383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594019	NM_144979.5(RBM46):c.1283A>G (p.Tyr428Cys)	RBM46 (Y428C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391133	NM_144979.5(RBM46):c.1517A>G (p.Tyr506Cys)	RBM46 (Y506C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335609	NM_144979.5(RBM46):c.1520C>T (p.Pro507Leu)	RBM46 (P507L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385581	NM_144979.5(RBM46):c.1523T>C (p.Leu508Ser)	RBM46 (L508S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596422	NM_144979.5(RBM46):c.1534A>G (p.Ile512Val)	RBM46 (I512V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539068	NM_144979.5(RBM46):c.1595T>C (p.Phe532Ser)	RBM46 (F532S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303419	NM_144979.5(RBM46):c.1596C>A (p.Phe532Leu)	RBM46 (F532L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1810290	GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3	DCHS2, FGA +5 more	Copy number gain	not provided	Gnot provided
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980702	GRCh37/hg19 4q31.3-32.1(chr4:155528674-156370083)x3	MAP9, NPY2R +3 more	Copy number gain	not provided	GLikely benign
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	FSTL5, GALNT7 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 47