"Ambry Genetics"[submitter] AND "RBM12B"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2531711	NM_145269.5(CIBAR1):c.788G>T (p.Cys263Phe)	CIBAR1, RBM12B (C263F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2336682	NM_001377960.1(RBM12B):c.2990A>C (p.Lys997Thr)	RBM12B (K997T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152189	NM_001377960.1(RBM12B):c.2919G>A (p.Met973Ile)	RBM12B (M973I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398459	NM_001377960.1(RBM12B):c.2836C>T (p.His946Tyr)	RBM12B (H946Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484345	NM_001377960.1(RBM12B):c.2806G>A (p.Ala936Thr)	RBM12B (A936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152188	NM_001377960.1(RBM12B):c.2669G>C (p.Arg890Pro)	RBM12B (R890P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313178	NM_001377960.1(RBM12B):c.2630A>G (p.Asp877Gly)	RBM12B (D877G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507804	NM_001377960.1(RBM12B):c.2564C>T (p.Pro855Leu)	RBM12B (P855L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609950	NM_001377960.1(RBM12B):c.2425G>A (p.Glu809Lys)	RBM12B (E809K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367582	NM_001377960.1(RBM12B):c.2375A>C (p.Gln792Pro)	RBM12B (Q792P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152187	NM_001377960.1(RBM12B):c.2345C>T (p.Pro782Leu)	RBM12B (P782L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258669	NM_001377960.1(RBM12B):c.2333A>C (p.His778Pro)	RBM12B (H778P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205697	NM_001377960.1(RBM12B):c.2321C>T (p.Pro774Leu)	RBM12B (P774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318531	NM_001377960.1(RBM12B):c.2276C>T (p.Pro759Leu)	RBM12B (P759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152186	NM_001377960.1(RBM12B):c.2265C>G (p.Phe755Leu)	RBM12B (F755L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408466	NM_001377960.1(RBM12B):c.2195G>T (p.Arg732Leu)	RBM12B (R732L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617637	NM_001377960.1(RBM12B):c.2170C>T (p.Arg724Trp)	RBM12B (R724W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482839	NM_001377960.1(RBM12B):c.2164C>T (p.His722Tyr)	RBM12B (H722Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308591	NM_001377960.1(RBM12B):c.2155C>G (p.Pro719Ala)	RBM12B (P719A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619694	NM_001377960.1(RBM12B):c.2102G>A (p.Arg701Gln)	RBM12B (R701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356054	NM_001377960.1(RBM12B):c.2053C>T (p.Arg685Trp)	RBM12B (R685W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368587	NM_001377960.1(RBM12B):c.2005C>T (p.Arg669Trp)	RBM12B (R669W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401960	NM_001377960.1(RBM12B):c.1977A>C (p.Leu659Phe)	RBM12B (L659F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152184	NM_001377960.1(RBM12B):c.1958A>G (p.Gln653Arg)	RBM12B (Q653R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220603	NM_001377960.1(RBM12B):c.1919C>T (p.Thr640Met)	RBM12B (T640M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367654	NM_001377960.1(RBM12B):c.1885C>T (p.Arg629Trp)	RBM12B (R629W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549636	NM_001377960.1(RBM12B):c.1838A>G (p.His613Arg)	RBM12B (H613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374232	NM_001377960.1(RBM12B):c.1835G>A (p.Arg612Lys)	RBM12B (R612K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323389	NM_001377960.1(RBM12B):c.1824G>T (p.Glu608Asp)	RBM12B (E608D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313171	NM_001377960.1(RBM12B):c.1813C>T (p.Arg605Cys)	RBM12B (R605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152183	NM_001377960.1(RBM12B):c.1785C>G (p.Phe595Leu)	RBM12B (F595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313180	NM_001377960.1(RBM12B):c.1761C>A (p.Phe587Leu)	RBM12B (F587L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515017	NM_001377960.1(RBM12B):c.1742G>A (p.Arg581Gln)	RBM12B (R581Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294118	NM_001377960.1(RBM12B):c.1742G>T (p.Arg581Leu)	RBM12B (R581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152182	NM_001377960.1(RBM12B):c.1737C>G (p.Phe579Leu)	RBM12B (F579L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358087	NM_001377960.1(RBM12B):c.1730A>C (p.Glu577Ala)	RBM12B (E577A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466182	NM_001377960.1(RBM12B):c.1706C>G (p.Pro569Arg)	RBM12B (P569R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589306	NM_001377960.1(RBM12B):c.1702C>T (p.Pro568Ser)	RBM12B (P568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233313	NM_001377960.1(RBM12B):c.1685C>T (p.Ser562Leu)	RBM12B (S562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313173	NM_001377960.1(RBM12B):c.1676G>A (p.Arg559Gln)	RBM12B (R559Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262368	NM_001377960.1(RBM12B):c.1540A>G (p.Lys514Glu)	RBM12B (K514E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310638	NM_001377960.1(RBM12B):c.1484T>C (p.Met495Thr)	RBM12B (M495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152181	NM_001377960.1(RBM12B):c.1480A>G (p.Lys494Glu)	RBM12B (K494E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283376	NM_001377960.1(RBM12B):c.1453G>A (p.Val485Ile)	RBM12B (V485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152180	NM_001377960.1(RBM12B):c.1442A>T (p.Gln481Leu)	RBM12B (Q481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225231	NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr)	RBM12B (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272133	NM_001377960.1(RBM12B):c.1424T>C (p.Ile475Thr)	RBM12B (I475T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313179	NM_001377960.1(RBM12B):c.1421T>C (p.Leu474Pro)	RBM12B (L474P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390041	NM_001377960.1(RBM12B):c.1388G>A (p.Arg463Gln)	RBM12B (R463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313176	NM_001377960.1(RBM12B):c.1360G>A (p.Ala454Thr)	RBM12B (A454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293357	NM_001377960.1(RBM12B):c.1199T>A (p.Leu400Gln)	RBM12B (L400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152178	NM_001377960.1(RBM12B):c.1154A>G (p.His385Arg)	RBM12B (H385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152177	NM_001377960.1(RBM12B):c.1150G>A (p.Gly384Arg)	RBM12B (G384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380298	NM_001377960.1(RBM12B):c.1094A>C (p.Lys365Thr)	RBM12B (K365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332827	NM_001377960.1(RBM12B):c.1045C>A (p.Gln349Lys)	RBM12B (Q349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332826	NM_001377960.1(RBM12B):c.1044A>C (p.Leu348Phe)	RBM12B (L348F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605347	NM_001377960.1(RBM12B):c.1030C>A (p.His344Asn)	RBM12B (H344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297954	NM_001377960.1(RBM12B):c.1000C>G (p.Leu334Val)	RBM12B (L334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617930	NM_001377960.1(RBM12B):c.989T>C (p.Met330Thr)	RBM12B (M330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223412	NM_001377960.1(RBM12B):c.835C>T (p.Arg279Cys)	RBM12B (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369833	NM_001377960.1(RBM12B):c.803C>G (p.Ser268Cys)	RBM12B (S268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313172	NM_001377960.1(RBM12B):c.799C>T (p.Arg267Trp)	RBM12B (R267W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488975	NM_001377960.1(RBM12B):c.710G>T (p.Gly237Val)	RBM12B (G237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265574	NM_001377960.1(RBM12B):c.592A>G (p.Ile198Val)	RBM12B (I198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557700	NM_001377960.1(RBM12B):c.515G>A (p.Arg172His)	RBM12B (R172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254200	NM_001377960.1(RBM12B):c.514C>T (p.Arg172Cys)	RBM12B (R172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333598	NM_001377960.1(RBM12B):c.511G>T (p.Val171Leu)	RBM12B (V171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597011	NM_001377960.1(RBM12B):c.459G>T (p.Glu153Asp)	RBM12B (E153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313175	NM_001377960.1(RBM12B):c.428G>A (p.Arg143Lys)	RBM12B (R143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472262	NM_001377960.1(RBM12B):c.404A>G (p.Asn135Ser)	RBM12B (N135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247554	NM_001377960.1(RBM12B):c.322A>G (p.Asn108Asp)	RBM12B (N108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465870	NM_001377960.1(RBM12B):c.269G>A (p.Arg90His)	RBM12B (R90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461615	NM_001377960.1(RBM12B):c.268C>T (p.Arg90Cys)	RBM12B (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382748	NM_001377960.1(RBM12B):c.175C>T (p.Arg59Cys)	RBM12B (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313177	NM_001377960.1(RBM12B):c.149A>G (p.Asp50Gly)	RBM12B (D50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331033	NM_001377960.1(RBM12B):c.59G>A (p.Arg20His)	RBM12B (R20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 77