RBM27[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 2496423	NM_018989.2(RBM27):c.8T>C (p.Ile3Thr)	LOC127814297, LOC129994940 +1 more (I3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542898	NM_018989.2(RBM27):c.22G>A (p.Ala8Thr)	LOC127814297, LOC129994940 +1 more (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053504	NM_018989.2(RBM27):c.59+3G>A	LOC127814297, RBM27	Single nucleotide variant (intron variant)	RBM27-related disorder	GLikely benign
Select item 3152292	NM_018989.2(RBM27):c.188G>A (p.Gly63Asp)	LOC127814297, RBM27 (G63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340402	NM_018989.2(RBM27):c.315G>T (p.Glu105Asp)	LOC127814297, RBM27 (E105D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306252	NM_018989.2(RBM27):c.388G>A (p.Glu130Lys)	LOC127814297, RBM27 (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610999	NM_018989.2(RBM27):c.407A>G (p.Lys136Arg)	LOC127814297, RBM27 (K136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302636	NM_018989.2(RBM27):c.442C>T (p.Arg148Trp)	LOC127814297, RBM27 (R148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554353	NM_018989.2(RBM27):c.466T>G (p.Tyr156Asp)	LOC127814297, RBM27 (Y156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152299	NM_018989.2(RBM27):c.469C>T (p.Arg157Cys)	LOC127814297, RBM27 (R157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383563	NM_018989.2(RBM27):c.526C>G (p.Leu176Val)	LOC127814297, RBM27 (L176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152300	NM_018989.2(RBM27):c.557G>A (p.Arg186His)	LOC127814297, RBM27 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554009	NM_018989.2(RBM27):c.602G>T (p.Arg201Ile)	LOC127814297, RBM27 (R201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536655	NM_018989.2(RBM27):c.754A>C (p.Thr252Pro)	LOC127814297, RBM27 (T252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225377	NM_018989.2(RBM27):c.785A>G (p.Asn262Ser)	LOC127814297, RBM27 (N262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152301	NM_018989.2(RBM27):c.973C>A (p.Pro325Thr)	LOC127814297, RBM27 (P325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311562	NM_018989.2(RBM27):c.1000C>T (p.Pro334Ser)	LOC127814297, RBM27 (P334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050808	NM_018989.2(RBM27):c.1020CCCAGGCCCGGGCCCAGGTCCAGG[1] (p.337PG[7])	LOC127814297, RBM27	Microsatellite (inframe deletion)	RBM27-related disorder	GLikely benign
Select item 2655877	NM_018989.2(RBM27):c.1029G>A (p.Pro343=)	LOC127814297, RBM27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046585	NM_018989.2(RBM27):c.1081A>T (p.Met361Leu)	LOC127814297, RBM27 (M361L)	Single nucleotide variant (missense variant)	RBM27-related disorder	GLikely benign
Select item 2276001	NM_018989.2(RBM27):c.1081A>G (p.Met361Val)	LOC127814297, RBM27 (M361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320970	NM_018989.2(RBM27):c.1096C>A (p.Pro366Thr)	LOC127814297, RBM27 (P366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152289	NM_018989.2(RBM27):c.1180C>T (p.Arg394Cys)	LOC127814297, RBM27 (R394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152290	NM_018989.2(RBM27):c.1211A>G (p.Asn404Ser)	LOC127814297, RBM27 (N404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535177	NM_018989.2(RBM27):c.1321G>C (p.Glu441Gln)	LOC127814297, RBM27 (E441Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399412	NM_018989.2(RBM27):c.1343C>T (p.Pro448Leu)	LOC127814297, RBM27 (P448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246350	NM_018989.2(RBM27):c.1426C>T (p.Pro476Ser)	LOC127814297, RBM27 (P476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379736	NM_018989.2(RBM27):c.1433C>G (p.Pro478Arg)	LOC127814297, RBM27 (P478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152291	NM_018989.2(RBM27):c.1531A>G (p.Thr511Ala)	LOC127814297, RBM27 (T456A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528929	NM_018989.2(RBM27):c.2212T>A (p.Ser738Thr)	LOC127814297, RBM27 (S683T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312341	NM_018989.2(RBM27):c.2273A>G (p.Asn758Ser)	LOC127814297, RBM27 (N703S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152293	NM_018989.2(RBM27):c.2290C>T (p.His764Tyr)	LOC127814297, RBM27 (H764Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395211	NM_018989.2(RBM27):c.2299A>T (p.Asn767Tyr)	LOC127814297, RBM27 (N767Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152294	NM_018989.2(RBM27):c.2579C>T (p.Ala860Val)	LOC127814297, RBM27 (A805V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152295	NM_018989.2(RBM27):c.2685A>T (p.Lys895Asn)	LOC127814297, RBM27 (K895N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152296	NM_018989.2(RBM27):c.2687C>T (p.Thr896Met)	LOC127814297, RBM27 (T896M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359657	NM_018989.2(RBM27):c.2803C>T (p.Arg935Trp)	LOC127814297, RBM27 (R880W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477246	NM_018989.2(RBM27):c.2827C>G (p.Arg943Gly)	LOC127814297, RBM27 (R888G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152297	NM_018989.2(RBM27):c.2873G>A (p.Arg958His)	LOC127814297, RBM27 (R903H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490810	NM_018989.2(RBM27):c.2891G>T (p.Gly964Val)	LOC127814297, RBM27 (G909V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285516	NM_018989.2(RBM27):c.2930C>T (p.Ala977Val)	LOC127814297, RBM27 (A922V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401097	NM_018989.2(RBM27):c.2951T>G (p.Ile984Ser)	LOC127814297, RBM27 (I929S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214344	NM_018989.2(RBM27):c.3019C>T (p.Arg1007Cys)	LOC127814297, RBM27 (R1007C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248477	NM_018989.2(RBM27):c.3031A>G (p.Ile1011Val)	LOC127814297, RBM27 (I1011V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542297	NM_018989.2(RBM27):c.3061A>G (p.Ile1021Val)	LOC127814297, RBM27 (I1021V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152298	NM_018989.2(RBM27):c.3153T>A (p.Asp1051Glu)	LOC127814297, RBM27 (D1051E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 635929	Single allele	SH3RF2, TCERG1 +8 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFAP1L1, AFF4 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 62