RBBP6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 2468271	NM_006910.5(RBBP6):c.182A>G (p.Asn61Ser)	RBBP6 (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555355	NM_006910.5(RBBP6):c.283G>A (p.Ala95Thr)	RBBP6 (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152060	NM_006910.5(RBBP6):c.335C>T (p.Ala112Val)	RBBP6 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443233	NM_006910.5(RBBP6):c.348+2TA[9]	RBBP6	Microsatellite (splice donor variant)	not specified	GLikely benign
Select item 2278034	NM_006910.5(RBBP6):c.433A>G (p.Ile145Val)	RBBP6 (I145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337687	NM_006910.5(RBBP6):c.437+10T>C	RBBP6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2443239	NM_006910.5(RBBP6):c.438-8_438-7delinsTT	RBBP6	Indel (intron variant)	not specified	GUncertain significance
Select item 2443232	NM_006910.5(RBBP6):c.504A>C (p.Gly168=)	RBBP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152067	NM_006910.5(RBBP6):c.712T>C (p.Phe238Leu)	RBBP6 (F238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480967	NM_006910.5(RBBP6):c.879G>C (p.Glu293Asp)	RBBP6 (E293D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600147	NM_006910.5(RBBP6):c.968A>G (p.Lys323Arg)	RBBP6 (K323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443236	NM_006910.5(RBBP6):c.999A>G (p.Arg333=)	RBBP6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2337723	NM_006910.5(RBBP6):c.1037C>T (p.Pro346Leu)	RBBP6 (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367353	NM_006910.5(RBBP6):c.1087T>C (p.Ser363Pro)	RBBP6 (S363P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387994	NM_006910.5(RBBP6):c.1109T>C (p.Met370Thr)	RBBP6 (M370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219444	NM_006910.5(RBBP6):c.1144C>T (p.Pro382Ser)	RBBP6 (P382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509909	NM_006910.5(RBBP6):c.1150A>G (p.Ile384Val)	RBBP6 (I384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312856	NM_006910.5(RBBP6):c.1173G>C (p.Gln391His)	RBBP6 (Q391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312857	NM_006910.5(RBBP6):c.1174T>G (p.Ser392Ala)	RBBP6 (S392A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601009	NM_006910.5(RBBP6):c.1196C>T (p.Ser399Phe)	RBBP6 (S399F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443237	NM_006910.5(RBBP6):c.1211C>T (p.Ser404Phe)	RBBP6 (S404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254616	NM_006910.5(RBBP6):c.1222C>T (p.Pro408Ser)	RBBP6 (P408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480598	NM_006910.5(RBBP6):c.1288C>T (p.Arg430Trp)	RBBP6 (R430W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152051	NM_006910.5(RBBP6):c.1365T>G (p.Ile455Met)	RBBP6 (I455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374926	NM_006910.5(RBBP6):c.1489C>T (p.Arg497Cys)	RBBP6 (R497C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390548	NM_006910.5(RBBP6):c.1490G>A (p.Arg497His)	RBBP6 (R497H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443238	NM_006910.5(RBBP6):c.1495G>A (p.Gly499Ser)	RBBP6 (G499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175402	NM_006910.5(RBBP6):c.1521-6A>G	RBBP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2552910	NM_006910.5(RBBP6):c.1552C>A (p.Pro518Thr)	RBBP6 (P518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471034	NM_006910.5(RBBP6):c.1597A>C (p.Asn533His)	RBBP6 (N533H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490809	NM_006910.5(RBBP6):c.1631G>A (p.Arg544Lys)	RBBP6 (R544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152052	NM_006910.5(RBBP6):c.1711A>G (p.Thr571Ala)	RBBP6 (T571A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152053	NM_006910.5(RBBP6):c.1753C>T (p.Pro585Ser)	RBBP6 (P585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336061	NM_006910.5(RBBP6):c.1783G>A (p.Ala595Thr)	RBBP6 (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313109	NM_006910.5(RBBP6):c.2075G>A (p.Gly692Asp)	RBBP6 (G658D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269273	NM_006910.5(RBBP6):c.2141C>G (p.Ser714Cys)	RBBP6 (S680C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538587	NM_006910.5(RBBP6):c.2144A>C (p.Tyr715Ser)	RBBP6 (Y681S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152054	NM_006910.5(RBBP6):c.2150G>C (p.Arg717Pro)	RBBP6 (R717P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608361	NM_006910.5(RBBP6):c.2162G>A (p.Arg721His)	RBBP6 (R721H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152055	NM_006910.5(RBBP6):c.2209G>A (p.Gly737Ser)	RBBP6 (G737S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481006	NM_006910.5(RBBP6):c.2225G>T (p.Arg742Leu)	RBBP6 (R708L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304414	NM_006910.5(RBBP6):c.2287T>C (p.Tyr763His)	RBBP6 (Y763H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337517	NM_006910.5(RBBP6):c.2355T>C (p.Asn785=)	RBBP6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3152056	NM_006910.5(RBBP6):c.2404G>T (p.Val802Phe)	RBBP6 (V768F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152057	NM_006910.5(RBBP6):c.2407C>T (p.Pro803Ser)	RBBP6 (P803S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282955	NM_006910.5(RBBP6):c.2414C>T (p.Pro805Leu)	RBBP6 (P771L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510778	NM_006910.5(RBBP6):c.2476C>T (p.Arg826Cys)	RBBP6 (R826C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334687	NM_006910.5(RBBP6):c.2531G>C (p.Gly844Ala)	RBBP6 (G844A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308569	NM_006910.5(RBBP6):c.2566A>G (p.Asn856Asp)	RBBP6 (N822D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458517	NM_006910.5(RBBP6):c.2635C>T (p.Arg879Cys)	RBBP6 (R845C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336785	NM_006910.5(RBBP6):c.2636G>A (p.Arg879His)	RBBP6 (R845H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547325	NM_006910.5(RBBP6):c.2646C>G (p.Asp882Glu)	RBBP6 (D848E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354724	NM_006910.5(RBBP6):c.2648A>G (p.Tyr883Cys)	RBBP6 (Y849C +1 more)	Single nucleotide variant (missense variant)	RBBP6-related disorder	GUncertain significance
Select item 1337119	NM_006910.5(RBBP6):c.2665C>A (p.His889Asn)	RBBP6 (H855N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336968	NM_006910.5(RBBP6):c.2722C>A (p.His908Asn)	RBBP6 (H874N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380880	NM_006910.5(RBBP6):c.2726A>G (p.Asn909Ser)	RBBP6 (N875S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313105	NM_006910.5(RBBP6):c.2762G>C (p.Ser921Thr)	RBBP6 (S887T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554771	NM_006910.5(RBBP6):c.2833A>G (p.Ser945Gly)	RBBP6 (S911G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306926	NM_006910.5(RBBP6):c.2855A>G (p.Glu952Gly)	RBBP6 (E952G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337522	NM_006910.5(RBBP6):c.2862A>G (p.Leu954=)	RBBP6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2602926	NM_006910.5(RBBP6):c.2894G>C (p.Gly965Ala)	RBBP6 (G931A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620892	NM_006910.5(RBBP6):c.2968C>T (p.Pro990Ser)	RBBP6 (P990S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526783	NM_006910.5(RBBP6):c.3085T>A (p.Ser1029Thr)	RBBP6 (S1029T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337524	NM_006910.5(RBBP6):c.3101T>C (p.Ile1034Thr)	RBBP6 (I1000T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3152059	NM_006910.5(RBBP6):c.3145C>A (p.Arg1049Ser)	RBBP6 (R1015S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474678	NM_006910.5(RBBP6):c.3278C>G (p.Ser1093Cys)	RBBP6 (S1059C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518277	NM_006910.5(RBBP6):c.3334A>G (p.Lys1112Glu)	RBBP6 (K1078E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337527	NM_006910.5(RBBP6):c.3405G>C (p.Glu1135Asp)	RBBP6 (E1101D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2218873	NM_006910.5(RBBP6):c.3466G>A (p.Val1156Ile)	RBBP6 (V1122I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344903	NM_006910.5(RBBP6):c.3544C>T (p.Arg1182Cys)	RBBP6 (R1148C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337533	NM_006910.5(RBBP6):c.3545G>A (p.Arg1182His)	RBBP6 (R1148H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3313100	NM_006910.5(RBBP6):c.3557C>A (p.Pro1186His)	RBBP6 (P1186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340390	NM_006910.5(RBBP6):c.3592G>A (p.Asp1198Asn)	RBBP6 (D1164N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375080	NM_006910.5(RBBP6):c.3608G>A (p.Ser1203Asn)	RBBP6 (S1169N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152061	NM_006910.5(RBBP6):c.3659G>T (p.Gly1220Val)	RBBP6 (G1186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474237	NM_006910.5(RBBP6):c.3686A>C (p.Lys1229Thr)	RBBP6 (K1195T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555625	NM_006910.5(RBBP6):c.3754A>G (p.Arg1252Gly)	RBBP6 (R1252G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287749	NM_006910.5(RBBP6):c.3913G>A (p.Ala1305Thr)	RBBP6 (A1305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343897	NM_006910.5(RBBP6):c.3993A>T (p.Glu1331Asp)	RBBP6 (E1331D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337933	NM_006910.5(RBBP6):c.3998T>G (p.Val1333Gly)	RBBP6 (V1299G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152062	NM_006910.5(RBBP6):c.4004C>T (p.Ser1335Phe)	RBBP6 (S1301F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152063	NM_006910.5(RBBP6):c.4075A>G (p.Ile1359Val)	RBBP6 (I1325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617511	NM_006910.5(RBBP6):c.4079T>A (p.Val1360Asp)	RBBP6 (V1326D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326835	NM_006910.5(RBBP6):c.4085A>G (p.Tyr1362Cys)	RBBP6 (Y1328C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313108	NM_006910.5(RBBP6):c.4216C>G (p.Arg1406Gly)	RBBP6 (R1372G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338179	NM_006910.5(RBBP6):c.4246C>G (p.Pro1416Ala)	RBBP6 (P1382A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610918	NM_006910.5(RBBP6):c.4267A>G (p.Thr1423Ala)	RBBP6 (T1389A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2443234	NM_006910.5(RBBP6):c.4311A>G (p.Gln1437=)	RBBP6	Single nucleotide variant (synonymous variant)	RBBP6-related disorder +1 more	GLikely benign
Select item 2589393	NM_006910.5(RBBP6):c.4316A>G (p.Asn1439Ser)	RBBP6 (N1439S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313103	NM_006910.5(RBBP6):c.4402A>T (p.Thr1468Ser)	RBBP6 (T1434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387857	NM_006910.5(RBBP6):c.4418A>G (p.Lys1473Arg)	RBBP6 (K1439R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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