"Ambry Genetics"[submitter] AND "RBM28"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152311	NM_018077.3(RBM28):c.2224T>A (p.Leu742Met)	RBM28 (L601M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313265	NM_018077.3(RBM28):c.2186G>A (p.Arg729His)	RBM28 (R588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152309	NM_018077.3(RBM28):c.2074G>A (p.Val692Ile)	RBM28 (V692I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233804	NM_018077.3(RBM28):c.1903C>T (p.Pro635Ser)	RBM28 (P635S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303362	NM_018077.3(RBM28):c.1808C>A (p.Pro603His)	RBM28 (P462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313266	NM_018077.3(RBM28):c.1783A>G (p.Ser595Gly)	RBM28 (S454G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332570	NM_018077.3(RBM28):c.1781G>A (p.Arg594His)	RBM28 (R453H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1028085	NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln)	RBM28 (R582Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2550907	NM_018077.3(RBM28):c.1634C>T (p.Ala545Val)	RBM28 (A404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152308	NM_018077.3(RBM28):c.1576C>G (p.Arg526Gly)	RBM28 (R385G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152307	NM_018077.3(RBM28):c.1532C>T (p.Thr511Ile)	RBM28 (T370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152306	NM_018077.3(RBM28):c.1505A>G (p.Gln502Arg)	RBM28 (Q502R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152304	NM_018077.3(RBM28):c.1301C>T (p.Pro434Leu)	RBM28 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486994	NM_018077.3(RBM28):c.1250C>T (p.Ala417Val)	RBM28 (A276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152303	NM_018077.3(RBM28):c.1238A>G (p.Lys413Arg)	RBM28 (K413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152302	NM_018077.3(RBM28):c.1220T>C (p.Leu407Pro)	RBM28 (L407P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464249	NM_018077.3(RBM28):c.1195G>C (p.Glu399Gln)	RBM28 (E258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475468	NM_018077.3(RBM28):c.1096A>G (p.Ile366Val)	RBM28 (I225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212504	NM_018077.3(RBM28):c.1071G>C (p.Gln357His)	RBM28 (Q216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616908	NM_018077.3(RBM28):c.1058A>G (p.Glu353Gly)	RBM28 (E212G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622069	NM_018077.3(RBM28):c.1010T>C (p.Val337Ala)	RBM28 (V196A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218239	NM_018077.3(RBM28):c.854A>G (p.Glu285Gly)	RBM28 (E285G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313267	NM_018077.3(RBM28):c.776C>T (p.Ser259Leu)	RBM28 (S259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152316	NM_018077.3(RBM28):c.719A>T (p.Asp240Val)	RBM28 (D240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355271	NM_018077.3(RBM28):c.700G>A (p.Asp234Asn)	RBM28 (D234N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152315	NM_018077.3(RBM28):c.564G>T (p.Trp188Cys)	RBM28 (W47C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380067	NM_018077.3(RBM28):c.521T>A (p.Met174Lys)	RBM28 (M174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472401	NM_018077.3(RBM28):c.517G>C (p.Gly173Arg)	RBM28 (G173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345670	NM_018077.3(RBM28):c.490C>T (p.Leu164Phe)	RBM28 (L164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152314	NM_018077.3(RBM28):c.469G>C (p.Gly157Arg)	RBM28 (G157R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152313	NM_018077.3(RBM28):c.460C>T (p.Arg154Cys)	RBM28 (R154C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237440	NM_018077.3(RBM28):c.408A>C (p.Gln136His)	RBM28 (Q136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152312	NM_018077.3(RBM28):c.305C>G (p.Pro102Arg)	RBM28 (P102R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458494	NM_018077.3(RBM28):c.305C>T (p.Pro102Leu)	RBM28 (P102L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 751017	NM_018077.3(RBM28):c.280A>T (p.Asn94Tyr)	RBM28 (N94Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2534915	NM_018077.3(RBM28):c.220A>G (p.Asn74Asp)	RBM28 (N74D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152305	NM_018077.3(RBM28):c.134G>C (p.Arg45Pro)	RBM28 (R45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325038	NM_018077.3(RBM28):c.130T>A (p.Cys44Ser)	RBM28 (C44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38