"Ambry Genetics"[submitter] AND "RBM6"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320545	NM_005777.3(RBM6):c.223T>C (p.Tyr75His)	RBM6 (Y75H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2458593	NM_005777.3(RBM6):c.224A>G (p.Tyr75Cys)	RBM6 (Y75C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152446	NM_005777.3(RBM6):c.238G>A (p.Gly80Arg)	RBM6 (G80R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152448	NM_005777.3(RBM6):c.242C>T (p.Pro81Leu)	RBM6 (P81L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2366695	NM_005777.3(RBM6):c.288G>C (p.Arg96Ser)	RBM6 (R96S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2454831	NM_005777.3(RBM6):c.293G>C (p.Gly98Ala)	RBM6 (G98A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152451	NM_005777.3(RBM6):c.302C>T (p.Ser101Leu)	RBM6 (S101L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2396198	NM_005777.3(RBM6):c.473G>A (p.Arg158Lys)	RBM6 (R158K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3313319	NM_005777.3(RBM6):c.478G>A (p.Ala160Thr)	RBM6 (A160T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2538749	NM_005777.3(RBM6):c.481C>T (p.His161Tyr)	RBM6 (H161Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2259626	NM_005777.3(RBM6):c.495C>G (p.Phe165Leu)	RBM6 (F165L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2397988	NM_005777.3(RBM6):c.533G>A (p.Arg178Gln)	RBM6 (R178Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152454	NM_005777.3(RBM6):c.605A>G (p.Asp202Gly)	RBM6 (D202G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2260370	NM_005777.3(RBM6):c.622A>G (p.Arg208Gly)	RBM6 (R208G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152455	NM_005777.3(RBM6):c.635G>A (p.Arg212His)	RBM6 (R212H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2554178	NM_005777.3(RBM6):c.655G>C (p.Asp219His)	RBM6 (D219H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2239121	NM_005777.3(RBM6):c.702C>G (p.Asp234Glu)	RBM6 (D234E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370042	NM_005777.3(RBM6):c.755C>T (p.Thr252Met)	RBM6 (T252M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2288457	NM_005777.3(RBM6):c.779G>C (p.Arg260Thr)	RBM6 (R260T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2337522	NM_005777.3(RBM6):c.799C>G (p.Gln267Glu)	RBM6 (Q267E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152458	NM_005777.3(RBM6):c.822G>A (p.Met274Ile)	RBM6 (M274I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152459	NM_005777.3(RBM6):c.859C>T (p.Pro287Ser)	RBM6 (P287S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3152460	NM_005777.3(RBM6):c.962C>T (p.Thr321Met)	RBM6 (T321M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473615	NM_005777.3(RBM6):c.1029A>C (p.Glu343Asp)	RBM6 (E343D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482803	NM_005777.3(RBM6):c.1123C>T (p.Arg375Cys)	RBM6 (R375C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152443	NM_005777.3(RBM6):c.1133A>G (p.Gln378Arg)	RBM6 (Q378R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3313311	NM_005777.3(RBM6):c.1142A>G (p.Asp381Gly)	RBM6 (D381G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2546721	NM_005777.3(RBM6):c.1181T>A (p.Leu394His)	RBM6 (L394H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152444	NM_005777.3(RBM6):c.1187G>A (p.Arg396Gln)	RBM6 (R396Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2254201	NM_005777.3(RBM6):c.1268A>G (p.Gln423Arg)	RBM6 (Q423R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2622661	NM_005777.3(RBM6):c.1286A>G (p.Glu429Gly)	RBM6 (E429G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2479072	NM_005777.3(RBM6):c.1313G>A (p.Arg438Gln)	RBM6 (R438Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152445	NM_005777.3(RBM6):c.1393G>A (p.Glu465Lys)	RBM6 (E465K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3313320	NM_005777.3(RBM6):c.1403C>T (p.Thr468Ile)	RBM6 (T468I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2307191	NM_005777.3(RBM6):c.1432A>G (p.Thr478Ala)	RBM6 (T478A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3313317	NM_005777.3(RBM6):c.1495G>C (p.Gly499Arg)	RBM6 (G499R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2533416	NM_005777.3(RBM6):c.1588A>G (p.Thr530Ala)	RBM6 (T530A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313321	NM_005777.3(RBM6):c.1658G>C (p.Arg553Pro)	RBM6 (R31P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313309	NM_005777.3(RBM6):c.1721C>G (p.Thr574Ser)	RBM6 (T52S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313310	NM_005777.3(RBM6):c.1919G>A (p.Arg640Gln)	RBM6 (R640Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231246	NM_005777.3(RBM6):c.1962G>C (p.Glu654Asp)	RBM6 (E132D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271306	NM_005777.3(RBM6):c.1985G>A (p.Arg662His)	RBM6 (R140H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476921	NM_005777.3(RBM6):c.2141G>A (p.Arg714His)	RBM6 (R192H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313318	NM_005777.3(RBM6):c.2230A>G (p.Asn744Asp)	RBM6 (N230D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594084	NM_005777.3(RBM6):c.2264A>C (p.Tyr755Ser)	RBM6 (Y241S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313313	NM_005777.3(RBM6):c.2288G>A (p.Arg763Gln)	RBM6 (R763Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289807	NM_005777.3(RBM6):c.2339G>T (p.Arg780Leu)	RBM6 (R266L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490415	NM_005777.3(RBM6):c.2381C>G (p.Ser794Cys)	RBM6 (S272C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152447	NM_005777.3(RBM6):c.2410G>T (p.Ala804Ser)	RBM6 (A282S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152449	NM_005777.3(RBM6):c.2492A>C (p.Lys831Thr)	RBM6 (K317T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353509	NM_005777.3(RBM6):c.2603G>C (p.Ser868Thr)	RBM6 (S354T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313312	NM_005777.3(RBM6):c.2777C>G (p.Pro926Arg)	RBM6 (P404R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262575	NM_005777.3(RBM6):c.2786G>A (p.Arg929His)	RBM6 (R407H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459093	NM_005777.3(RBM6):c.2797C>T (p.Pro933Ser)	RBM6 (P419S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313316	NM_005777.3(RBM6):c.3082A>G (p.Arg1028Gly)	RBM6 (R1028G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381937	NM_005777.3(RBM6):c.3122G>A (p.Arg1041His)	RBM6 (R1041H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529570	NM_005777.3(RBM6):c.3142G>C (p.Asp1048His)	RBM6 (D534H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382080	NM_005777.3(RBM6):c.3146T>C (p.Ile1049Thr)	RBM6 (I1049T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152452	NM_005777.3(RBM6):c.3202A>G (p.Thr1068Ala)	RBM6 (T1068A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371830	NM_005777.3(RBM6):c.3215A>G (p.Tyr1072Cys)	RBM6 (Y550C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313315	NM_005777.3(RBM6):c.3335G>A (p.Arg1112Gln)	RBM6 (R1112Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 61