RBM12B[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CCNE2, CDH17 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 2531711	NM_145269.5(CIBAR1):c.788G>T (p.Cys263Phe)	CIBAR1, RBM12B (C263F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2456925	NM_145269.5(CIBAR1):c.800A>G (p.Lys267Arg)	CIBAR1, RBM12B (K229R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336682	NM_001377960.1(RBM12B):c.2990A>C (p.Lys997Thr)	RBM12B (K997T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398459	NM_001377960.1(RBM12B):c.2836C>T (p.His946Tyr)	RBM12B (H946Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484345	NM_001377960.1(RBM12B):c.2806G>A (p.Ala936Thr)	RBM12B (A936T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507804	NM_001377960.1(RBM12B):c.2564C>T (p.Pro855Leu)	RBM12B (P855L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609950	NM_001377960.1(RBM12B):c.2425G>A (p.Glu809Lys)	RBM12B (E809K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367582	NM_001377960.1(RBM12B):c.2375A>C (p.Gln792Pro)	RBM12B (Q792P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258669	NM_001377960.1(RBM12B):c.2333A>C (p.His778Pro)	RBM12B (H778P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205697	NM_001377960.1(RBM12B):c.2321C>T (p.Pro774Leu)	RBM12B (P774L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318531	NM_001377960.1(RBM12B):c.2276C>T (p.Pro759Leu)	RBM12B (P759L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408466	NM_001377960.1(RBM12B):c.2195G>T (p.Arg732Leu)	RBM12B (R732L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617637	NM_001377960.1(RBM12B):c.2170C>T (p.Arg724Trp)	RBM12B (R724W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482839	NM_001377960.1(RBM12B):c.2164C>T (p.His722Tyr)	RBM12B (H722Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308591	NM_001377960.1(RBM12B):c.2155C>G (p.Pro719Ala)	RBM12B (P719A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619694	NM_001377960.1(RBM12B):c.2102G>A (p.Arg701Gln)	RBM12B (R701Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356054	NM_001377960.1(RBM12B):c.2053C>T (p.Arg685Trp)	RBM12B (R685W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368587	NM_001377960.1(RBM12B):c.2005C>T (p.Arg669Trp)	RBM12B (R669W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401960	NM_001377960.1(RBM12B):c.1977A>C (p.Leu659Phe)	RBM12B (L659F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220603	NM_001377960.1(RBM12B):c.1919C>T (p.Thr640Met)	RBM12B (T640M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367654	NM_001377960.1(RBM12B):c.1885C>T (p.Arg629Trp)	RBM12B (R629W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549636	NM_001377960.1(RBM12B):c.1838A>G (p.His613Arg)	RBM12B (H613R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374232	NM_001377960.1(RBM12B):c.1835G>A (p.Arg612Lys)	RBM12B (R612K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323389	NM_001377960.1(RBM12B):c.1824G>T (p.Glu608Asp)	RBM12B (E608D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515017	NM_001377960.1(RBM12B):c.1742G>A (p.Arg581Gln)	RBM12B (R581Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294118	NM_001377960.1(RBM12B):c.1742G>T (p.Arg581Leu)	RBM12B (R581L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358087	NM_001377960.1(RBM12B):c.1730A>C (p.Glu577Ala)	RBM12B (E577A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466182	NM_001377960.1(RBM12B):c.1706C>G (p.Pro569Arg)	RBM12B (P569R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589306	NM_001377960.1(RBM12B):c.1702C>T (p.Pro568Ser)	RBM12B (P568S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233313	NM_001377960.1(RBM12B):c.1685C>T (p.Ser562Leu)	RBM12B (S562L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262368	NM_001377960.1(RBM12B):c.1540A>G (p.Lys514Glu)	RBM12B (K514E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310638	NM_001377960.1(RBM12B):c.1484T>C (p.Met495Thr)	RBM12B (M495T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283376	NM_001377960.1(RBM12B):c.1453G>A (p.Val485Ile)	RBM12B (V485I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225231	NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr)	RBM12B (A478T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272133	NM_001377960.1(RBM12B):c.1424T>C (p.Ile475Thr)	RBM12B (I475T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390041	NM_001377960.1(RBM12B):c.1388G>A (p.Arg463Gln)	RBM12B (R463Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293357	NM_001377960.1(RBM12B):c.1199T>A (p.Leu400Gln)	RBM12B (L400Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380298	NM_001377960.1(RBM12B):c.1094A>C (p.Lys365Thr)	RBM12B (K365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332827	NM_001377960.1(RBM12B):c.1045C>A (p.Gln349Lys)	RBM12B (Q349K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332826	NM_001377960.1(RBM12B):c.1044A>C (p.Leu348Phe)	RBM12B (L348F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605347	NM_001377960.1(RBM12B):c.1030C>A (p.His344Asn)	RBM12B (H344N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297954	NM_001377960.1(RBM12B):c.1000C>G (p.Leu334Val)	RBM12B (L334V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617930	NM_001377960.1(RBM12B):c.989T>C (p.Met330Thr)	RBM12B (M330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223412	NM_001377960.1(RBM12B):c.835C>T (p.Arg279Cys)	RBM12B (R279C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369833	NM_001377960.1(RBM12B):c.803C>G (p.Ser268Cys)	RBM12B (S268C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488975	NM_001377960.1(RBM12B):c.710G>T (p.Gly237Val)	RBM12B (G237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265574	NM_001377960.1(RBM12B):c.592A>G (p.Ile198Val)	RBM12B (I198V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557700	NM_001377960.1(RBM12B):c.515G>A (p.Arg172His)	RBM12B (R172H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254200	NM_001377960.1(RBM12B):c.514C>T (p.Arg172Cys)	RBM12B (R172C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333598	NM_001377960.1(RBM12B):c.511G>T (p.Val171Leu)	RBM12B (V171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801808	NM_001377960.1(RBM12B):c.486G>T (p.Leu162Phe)	RBM12B (L162F)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2597011	NM_001377960.1(RBM12B):c.459G>T (p.Glu153Asp)	RBM12B (E153D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472262	NM_001377960.1(RBM12B):c.404A>G (p.Asn135Ser)	RBM12B (N135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247554	NM_001377960.1(RBM12B):c.322A>G (p.Asn108Asp)	RBM12B (N108D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465870	NM_001377960.1(RBM12B):c.269G>A (p.Arg90His)	RBM12B (R90H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461615	NM_001377960.1(RBM12B):c.268C>T (p.Arg90Cys)	RBM12B (R90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382748	NM_001377960.1(RBM12B):c.175C>T (p.Arg59Cys)	RBM12B (R59C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331033	NM_001377960.1(RBM12B):c.59G>A (p.Arg20His)	RBM12B (R20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	AARD, ABRA +160 more	Copy number gain	See cases	GPathogenic
Select item 441773	GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1	CCNE2, CDH17 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	C8orf76, CALB1 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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Items: 98