RBM19[gene] and "single gene"[properties] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2359084	NM_016196.4(RBM19):c.2821G>A (p.Glu941Lys)	RBM19 (E941K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152240	NM_016196.4(RBM19):c.2758C>T (p.Arg920Trp)	RBM19 (R920W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152239	NM_016196.4(RBM19):c.2753C>G (p.Ala918Gly)	RBM19 (A918G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152238	NM_016196.4(RBM19):c.2666G>A (p.Arg889Lys)	RBM19 (R889K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355518	NM_016196.4(RBM19):c.2656G>C (p.Asp886His)	RBM19 (D886H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593730	NM_016196.4(RBM19):c.2629G>A (p.Gly877Ser)	RBM19 (G877S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356301	NM_016196.4(RBM19):c.2585G>A (p.Arg862His)	RBM19 (R862H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152237	NM_016196.4(RBM19):c.2571G>C (p.Glu857Asp)	RBM19 (E857D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229735	NM_016196.4(RBM19):c.2532C>G (p.His844Gln)	RBM19 (H844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401701	NM_016196.4(RBM19):c.2510G>A (p.Arg837Gln)	RBM19 (R837Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303712	NM_016196.4(RBM19):c.2472A>C (p.Gln824His)	RBM19 (Q824H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152236	NM_016196.4(RBM19):c.2449G>A (p.Val817Met)	RBM19 (V817M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204071	NM_016196.4(RBM19):c.2432G>A (p.Arg811Gln)	RBM19 (R811Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532338	NM_016196.4(RBM19):c.2413G>C (p.Glu805Gln)	RBM19 (E805Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596155	NM_016196.4(RBM19):c.2392G>A (p.Val798Ile)	RBM19 (V798I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252548	NM_016196.4(RBM19):c.2308G>A (p.Val770Met)	RBM19 (V770M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313211	NM_016196.4(RBM19):c.2282T>A (p.Ile761Asn)	RBM19 (I761N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474975	NM_016196.4(RBM19):c.2234A>C (p.Lys745Thr)	RBM19 (K745T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152235	NM_016196.4(RBM19):c.2185G>C (p.Gly729Arg)	RBM19 (G729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152234	NM_016196.4(RBM19):c.2176A>G (p.Ser726Gly)	RBM19 (S726G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152233	NM_016196.4(RBM19):c.2161G>A (p.Glu721Lys)	RBM19 (E721K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242168	NM_016196.4(RBM19):c.2155G>A (p.Glu719Lys)	RBM19 (E719K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152231	NM_016196.4(RBM19):c.2080G>A (p.Glu694Lys)	RBM19 (E694K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480313	NM_016196.4(RBM19):c.2024C>T (p.Thr675Ile)	RBM19 (T675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313208	NM_016196.4(RBM19):c.2002C>G (p.Gln668Glu)	RBM19 (Q668E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307479	NM_016196.4(RBM19):c.1958A>C (p.Tyr653Ser)	RBM19 (Y653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313213	NM_016196.4(RBM19):c.1933T>G (p.Ser645Ala)	RBM19 (S645A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340421	NM_016196.4(RBM19):c.1879G>T (p.Val627Leu)	RBM19 (V627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280281	NM_016196.4(RBM19):c.1691G>A (p.Arg564Gln)	RBM19 (R564Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370280	NM_016196.4(RBM19):c.1690C>T (p.Arg564Trp)	RBM19 (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152230	NM_016196.4(RBM19):c.1684G>A (p.Glu562Lys)	RBM19 (E562K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259760	NM_016196.4(RBM19):c.1642G>A (p.Val548Met)	RBM19 (V548M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214540	NM_016196.4(RBM19):c.1598A>G (p.Asn533Ser)	RBM19 (N533S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313212	NM_016196.4(RBM19):c.1582A>G (p.Ile528Val)	RBM19 (I528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351542	NM_016196.4(RBM19):c.1576G>A (p.Asp526Asn)	RBM19 (D526N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555741	NM_016196.4(RBM19):c.1536C>G (p.His512Gln)	RBM19 (H512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616792	NM_016196.4(RBM19):c.1508A>G (p.Gln503Arg)	RBM19 (Q503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481393	NM_016196.4(RBM19):c.1465A>G (p.Ser489Gly)	RBM19 (S489G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537550	NM_016196.4(RBM19):c.1456G>A (p.Glu486Lys)	RBM19 (E486K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152229	NM_016196.4(RBM19):c.1442A>G (p.Lys481Arg)	RBM19 (K481R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152227	NM_016196.4(RBM19):c.1420C>T (p.His474Tyr)	RBM19 (H474Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152226	NM_016196.4(RBM19):c.1301C>T (p.Pro434Leu)	RBM19 (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152225	NM_016196.4(RBM19):c.1298A>G (p.Tyr433Cys)	RBM19 (Y433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313209	NM_016196.4(RBM19):c.1176C>A (p.Asn392Lys)	RBM19 (N392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309927	NM_016196.4(RBM19):c.1173G>T (p.Glu391Asp)	RBM19 (E391D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335177	NM_016196.4(RBM19):c.1108G>A (p.Val370Ile)	RBM19 (V370I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152224	NM_016196.4(RBM19):c.1087G>A (p.Glu363Lys)	RBM19 (E363K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515669	NM_016196.4(RBM19):c.1082A>G (p.Tyr361Cys)	RBM19 (Y361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380921	NM_016196.4(RBM19):c.1061G>A (p.Arg354Gln)	RBM19 (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152223	NM_016196.4(RBM19):c.1006A>G (p.Ile336Val)	RBM19 (I336V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152251	NM_016196.4(RBM19):c.905C>T (p.Pro302Leu)	RBM19 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354264	NM_016196.4(RBM19):c.860A>C (p.Gln287Pro)	RBM19 (Q287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152250	NM_016196.4(RBM19):c.745G>A (p.Ala249Thr)	RBM19 (A249T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313210	NM_016196.4(RBM19):c.710A>T (p.Asp237Val)	RBM19 (D237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152248	NM_016196.4(RBM19):c.693T>G (p.Asp231Glu)	RBM19 (D231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364006	NM_016196.4(RBM19):c.652G>C (p.Ala218Pro)	RBM19 (A218P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546515	NM_016196.4(RBM19):c.650A>G (p.Lys217Arg)	RBM19 (K217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404625	NM_016196.4(RBM19):c.617C>T (p.Ser206Leu)	RBM19 (S206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152245	NM_016196.4(RBM19):c.520T>G (p.Ser174Ala)	RBM19 (S174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282641	NM_016196.4(RBM19):c.518A>G (p.Asp173Gly)	RBM19 (D173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152244	NM_016196.4(RBM19):c.494C>T (p.Pro165Leu)	RBM19 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288051	NM_016196.4(RBM19):c.464A>G (p.Asp155Gly)	RBM19 (D155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373416	NM_016196.4(RBM19):c.391A>G (p.Thr131Ala)	RBM19 (T131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328262	NM_016196.4(RBM19):c.370C>G (p.Leu124Val)	RBM19 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152243	NM_016196.4(RBM19):c.357G>T (p.Lys119Asn)	RBM19 (K119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152241	NM_016196.4(RBM19):c.315C>A (p.Asp105Glu)	RBM19 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152232	NM_016196.4(RBM19):c.211C>T (p.Arg71Trp)	RBM19 (R71W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369079	NM_016196.4(RBM19):c.191A>G (p.Lys64Arg)	RBM19 (K64R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313214	NM_016196.4(RBM19):c.170A>G (p.Lys57Arg)	RBM19 (K57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358489	NM_016196.4(RBM19):c.118A>G (p.Lys40Glu)	RBM19 (K40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152249	NM_016196.4(RBM19):c.71C>T (p.Ala24Val)	RBM19 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152246	NM_016196.4(RBM19):c.57G>T (p.Arg19Ser)	RBM19 (R19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152242	NM_016196.4(RBM19):c.33T>G (p.Asn11Lys)	RBM19 (N11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807646	GRCh37/hg19 12q24.13-24.21(chr12:114251258-114555608)x3	RBM19	Copy number gain	not provided	GUncertain significance
Select item 980456	GRCh37/hg19 12q24.13-24.21(chr12:114264727-114556283)x3	RBM19	Copy number gain	not provided	GUncertain significance
Select item 442586	GRCh37/hg19 12q24.13-24.21(chr12:114103287-114656460)x3	RBM19	Copy number gain	See cases	GUncertain significance
Select item 394751	GRCh37/hg19 12q24.13-24.21(chr12:114277899-114548111)x3	RBM19	Copy number gain	See cases	GUncertain significance

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Items: 77