RBL2[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	LOC110120583, LOC110120584 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 148728	GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1	AKTIP, CASC16 +42 more	Copy number loss	See cases	GUncertain significance
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 2523905	NM_005611.4(RBL2):c.23C>T (p.Ser8Leu)	LOC130059028, RBL2 (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318493	NM_005611.4(RBL2):c.91G>A (p.Ala31Thr)	LOC130059028, RBL2 (A31T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790705	NM_005611.4(RBL2):c.162C>T (p.Ser54=)	LOC130059028, RBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390752	NM_005611.4(RBL2):c.247G>A (p.Asp83Asn)	RBL2 (D83N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455336	NM_005611.4(RBL2):c.250C>T (p.Leu84Phe)	RBL2 (L10F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249086	NM_005611.4(RBL2):c.251T>A (p.Leu84His)	RBL2 (L10H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487057	NM_005611.4(RBL2):c.268G>A (p.Ala90Thr)	RBL2 (A16T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609114	NM_005611.4(RBL2):c.277G>A (p.Val93Met)	RBL2 (V93M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547272	NM_005611.4(RBL2):c.301A>G (p.Thr101Ala)	RBL2 (T27A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594713	NM_005611.4(RBL2):c.346A>G (p.Arg116Gly)	RBL2 (R42G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782893	NM_005611.4(RBL2):c.423A>G (p.Leu141=)	RBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473289	NM_005611.4(RBL2):c.442C>T (p.Arg148Cys)	RBL2 (R74C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332911	NM_005611.4(RBL2):c.556C>T (p.Arg186Ter)	RBL2 (R186* +1 more)	Single nucleotide variant (nonsense)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic
Select item 1332914	NM_005611.4(RBL2):c.573-1358_766+5del	RBL2	Deletion (splice acceptor variant +1 more)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 2683915	NM_005611.4(RBL2):c.574C>T (p.Arg192Ter)	RBL2 (R118* +1 more)	Single nucleotide variant (nonsense)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 2521738	NM_005611.4(RBL2):c.899C>G (p.Pro300Arg)	RBL2 (P226R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339436	NM_005611.4(RBL2):c.901dup (p.Tyr301fs)	RBL2 (Y227fs +1 more)	Duplication (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic
Select item 2315783	NM_005611.4(RBL2):c.904A>G (p.Ile302Val)	RBL2 (I302V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332913	NM_005611.4(RBL2):c.926dup (p.Leu310fs)	RBL2 (L236fs +1 more)	Duplication (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 2294043	NM_005611.4(RBL2):c.1033G>A (p.Val345Ile)	RBL2 (V271I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335052	NM_005611.4(RBL2):c.1051C>T (p.Arg351Trp)	RBL2 (R277W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531128	NM_005611.4(RBL2):c.1073C>T (p.Ala358Val)	RBL2 (A284V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309163	NM_005611.4(RBL2):c.1181C>T (p.Ser394Phe)	RBL2 (S394F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603144	NM_005611.4(RBL2):c.1241C>T (p.Pro414Leu)	RBL2 (P340L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346337	NM_005611.4(RBL2):c.1252C>T (p.Pro418Ser)	RBL2 (P344S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301381	NM_005611.4(RBL2):c.1261A>C (p.Thr421Pro)	RBL2 (T421P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718815	NM_005611.4(RBL2):c.1375A>G (p.Ile459Val)	RBL2 (I459V +1 more)	Single nucleotide variant (missense variant)	RBL2-related condition +1 more	GLikely benign
Select item 2224350	NM_005611.4(RBL2):c.1425G>T (p.Gln475His)	RBL2 (Q401H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065286	NM_005611.4(RBL2):c.1472_1473del (p.His491fs)	RBL2 (H417fs +1 more)	Deletion (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic
Select item 2463412	NM_005611.4(RBL2):c.1484C>T (p.Ala495Val)	RBL2 (A421V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508862	NM_005611.4(RBL2):c.1564A>G (p.Ile522Val)	RBL2 (I522V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333650	NM_005611.4(RBL2):c.1596_1597del (p.Leu533fs)	RBL2 (L459fs +1 more)	Microsatellite (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 782894	NM_005611.4(RBL2):c.1646A>T (p.Asn549Ile)	RBL2 (N549I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2283875	NM_005611.4(RBL2):c.1669T>C (p.Phe557Leu)	RBL2 (F483L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361606	NM_005611.4(RBL2):c.1714A>G (p.Ile572Val)	RBL2 (I572V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455993	NM_005611.4(RBL2):c.1767T>G (p.Ile589Met)	RBL2 (I589M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342639	NM_005611.4(RBL2):c.1948C>T (p.Arg650Cys)	RBL2 (R576C +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2412387	NM_005611.4(RBL2):c.2095C>T (p.Pro699Ser)	RBL2 (P625S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337162	NM_005611.4(RBL2):c.2125G>A (p.Val709Met)	RBL2 (V635M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388730	NM_005611.4(RBL2):c.2336C>T (p.Pro779Leu)	RBL2 (P779L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261553	NM_005611.4(RBL2):c.2369G>A (p.Ser790Asn)	RBL2 (S716N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791103	NM_005611.4(RBL2):c.2487A>T (p.Arg829Ser)	RBL2 (R829S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2346867	NM_005611.4(RBL2):c.2498C>T (p.Thr833Ile)	RBL2 (T833I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782140	NM_005611.4(RBL2):c.2556G>A (p.Arg852=)	RBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2227244	NM_005611.4(RBL2):c.2576A>G (p.Asp859Gly)	RBL2 (D810G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468107	NM_005611.4(RBL2):c.2920A>C (p.Thr974Pro)	RBL2 (T900P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614697	NM_005611.4(RBL2):c.2930T>C (p.Val977Ala)	RBL2 (V928A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204088	NM_005611.4(RBL2):c.2948C>G (p.Ala983Gly)	RBL2 (A909G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342640	NM_005611.4(RBL2):c.2983A>G (p.Ser995Gly)	RBL2 (S921G +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2557343	NM_005611.4(RBL2):c.2990T>C (p.Met997Thr)	RBL2 (M973T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746810	NM_005611.4(RBL2):c.3033C>T (p.Asn1011=)	RBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2311600	NM_005611.4(RBL2):c.3061G>A (p.Ala1021Thr)	RBL2 (A947T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513420	NM_005611.4(RBL2):c.3087G>T (p.Met1029Ile)	RBL2 (M1005I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536011	NM_005611.4(RBL2):c.3088G>C (p.Asp1030His)	RBL2 (D1006H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618803	NM_005611.4(RBL2):c.3137G>A (p.Arg1046His)	RBL2 (R1022H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551280	NM_005611.4(RBL2):c.3185A>C (p.Lys1062Thr)	RBL2 (K1038T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552477	NM_005611.4(RBL2):c.3217A>G (p.Ile1073Val)	RBL2 (I1073V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206528	NM_005611.4(RBL2):c.3310A>G (p.Ile1104Val)	RBL2 (I1080V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504684	NM_005611.4(RBL2):c.3382C>T (p.Arg1128Cys)	RBL2 (R1054C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1332912	NC_000016.9:g.(53498276_53499349)_(53504835_53513065)del	RBL2	Deletion	Brunet-Wagner neurodevelopmental syndrome	GPathogenic

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Items: 79