RIMBP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 148074	GRCh38/hg38 12q24.33(chr12:130246043-130806970)x3	LOC121838570, LOC124849284 +16 more	Copy number gain	See cases	GUncertain significance
Select item 2338125	NM_001393629.1(RIMBP2):c.3900+527G>A	PIWIL1, RIMBP2 (V1064I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314330	NM_001393629.1(RIMBP2):c.3880A>G (p.Met1294Val)	PIWIL1, RIMBP2 (M1055V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368453	NM_001393629.1(RIMBP2):c.3834A>C (p.Glu1278Asp)	PIWIL1, RIMBP2 (E1022D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154330	NM_001393629.1(RIMBP2):c.3793G>C (p.Val1265Leu)	PIWIL1, RIMBP2 (V973L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316176	NM_001393629.1(RIMBP2):c.3745G>A (p.Asp1249Asn)	PIWIL1, RIMBP2 (D1010N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325759	NM_001393629.1(RIMBP2):c.3721A>G (p.Ile1241Val)	PIWIL1, RIMBP2 (I1002V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297898	NM_001393629.1(RIMBP2):c.3716G>C (p.Gly1239Ala)	PIWIL1, RIMBP2 (G983A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510471	NM_001393629.1(RIMBP2):c.3704C>T (p.Thr1235Ile)	RIMBP2, PIWIL1 (T943I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215823	NM_001393629.1(RIMBP2):c.3691G>A (p.Glu1231Lys)	PIWIL1, RIMBP2 (E1231K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154328	NM_001393629.1(RIMBP2):c.3614G>A (p.Arg1205His)	PIWIL1, RIMBP2 (R913H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213822	NM_001393629.1(RIMBP2):c.3613C>T (p.Arg1205Cys)	PIWIL1, RIMBP2 (R913C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523586	NM_001393629.1(RIMBP2):c.3314C>T (p.Pro1105Leu)	PIWIL1, RIMBP2 (P866L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154327	NM_001393629.1(RIMBP2):c.3256C>T (p.Arg1086Cys)	PIWIL1, RIMBP2 (R847C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360695	NM_001393629.1(RIMBP2):c.3251G>A (p.Arg1084Gln)	PIWIL1, RIMBP2 (R792Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154326	NM_001393629.1(RIMBP2):c.3236T>A (p.Ile1079Asn)	PIWIL1, RIMBP2 (I1079N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643590	NM_001393629.1(RIMBP2):c.2988G>A (p.Pro996=)	PIWIL1, RIMBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643591	NM_001393629.1(RIMBP2):c.2910G>A (p.Val970=)	PIWIL1, RIMBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3154325	NM_001393629.1(RIMBP2):c.2402A>G (p.Asn801Ser)	RIMBP2 (N784S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519374	NM_001393629.1(RIMBP2):c.2393C>T (p.Thr798Met)	RIMBP2 (T798M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154324	NM_001393629.1(RIMBP2):c.2368G>C (p.Gly790Arg)	RIMBP2 (G790R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545920	NM_001393629.1(RIMBP2):c.2366A>G (p.Asp789Gly)	RIMBP2 (D772G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154323	NM_001393629.1(RIMBP2):c.2281C>T (p.His761Tyr)	RIMBP2 (H744Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397408	NM_001393629.1(RIMBP2):c.2261G>A (p.Cys754Tyr)	RIMBP2 (C754Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244551	NM_001393629.1(RIMBP2):c.2234G>C (p.Gly745Ala)	RIMBP2 (G728A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154321	NM_001393629.1(RIMBP2):c.2180A>G (p.Tyr727Cys)	RIMBP2 (Y618C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154320	NM_001393629.1(RIMBP2):c.2108T>C (p.Leu703Ser)	RIMBP2 (L703S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324688	NM_001393629.1(RIMBP2):c.2095G>C (p.Glu699Gln)	RIMBP2 (E590Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508886	NM_001393629.1(RIMBP2):c.2072G>A (p.Arg691Gln)	RIMBP2 (R582Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154319	NM_001393629.1(RIMBP2):c.2039C>A (p.Pro680Gln)	RIMBP2 (P571Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314334	NM_001393629.1(RIMBP2):c.1987G>A (p.Gly663Arg)	RIMBP2 (G554R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593908	NM_001393629.1(RIMBP2):c.1961A>C (p.His654Pro)	RIMBP2 (H637P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362837	NM_001393629.1(RIMBP2):c.1876G>A (p.Glu626Lys)	RIMBP2 (E609K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154318	NM_001393629.1(RIMBP2):c.1852C>T (p.Pro618Ser)	RIMBP2 (P509S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231560	NM_001393629.1(RIMBP2):c.1838C>T (p.Ala613Val)	RIMBP2 (A613V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314327	NM_001393629.1(RIMBP2):c.1825C>G (p.His609Asp)	RIMBP2 (H500D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312342	NM_001393629.1(RIMBP2):c.1825C>A (p.His609Asn)	RIMBP2 (H500N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593551	NM_001393629.1(RIMBP2):c.1823C>A (p.Pro608His)	RIMBP2 (P499H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154316	NM_001393629.1(RIMBP2):c.1820C>T (p.Thr607Ile)	RIMBP2 (T498I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314329	NM_001393629.1(RIMBP2):c.1795C>T (p.Pro599Ser)	RIMBP2 (P490S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314332	NM_001393629.1(RIMBP2):c.1765G>A (p.Glu589Lys)	RIMBP2 (E572K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154315	NM_001393629.1(RIMBP2):c.1679C>A (p.Thr560Lys)	RIMBP2 (T543K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371924	NM_001393629.1(RIMBP2):c.1679C>T (p.Thr560Met)	RIMBP2 (T560M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154314	NM_001393629.1(RIMBP2):c.1610A>G (p.Asn537Ser)	RIMBP2 (N428S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369146	NM_001393629.1(RIMBP2):c.1565G>A (p.Arg522Gln)	RIMBP2 (R413Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314331	NM_001393629.1(RIMBP2):c.1564C>T (p.Arg522Trp)	RIMBP2 (R413W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314328	NM_001393629.1(RIMBP2):c.1549A>G (p.Thr517Ala)	RIMBP2 (T408A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380754	NM_001393629.1(RIMBP2):c.1532C>T (p.Thr511Ile)	RIMBP2 (T494I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643592	NM_001393629.1(RIMBP2):c.1464G>A (p.Glu488=)	RIMBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620476	NM_001393629.1(RIMBP2):c.1336T>C (p.Phe446Leu)	RIMBP2 (F446L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494461	NM_001393629.1(RIMBP2):c.1276C>A (p.Leu426Ile)	RIMBP2 (L426I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344107	NM_001393629.1(RIMBP2):c.1193A>G (p.Gln398Arg)	RIMBP2 (Q398R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643593	NM_001393629.1(RIMBP2):c.1182G>A (p.Ser394=)	RIMBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3154313	NM_001393629.1(RIMBP2):c.1162G>A (p.Val388Ile)	RIMBP2 (V279I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643594	NM_001393629.1(RIMBP2):c.1079A>T (p.Asn360Ile)	RIMBP2 (N251I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3314335	NM_001393629.1(RIMBP2):c.1073G>A (p.Arg358His)	RIMBP2 (R341H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204021	NM_001393629.1(RIMBP2):c.1051G>A (p.Val351Ile)	RIMBP2 (V351I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154334	NM_001393629.1(RIMBP2):c.931G>A (p.Glu311Lys)	RIMBP2 (E202K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643595	NM_001393629.1(RIMBP2):c.918C>T (p.Ile306=)	RIMBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398984	NM_001393629.1(RIMBP2):c.896C>G (p.Ala299Gly)	RIMBP2 (A190G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376463	NM_001393629.1(RIMBP2):c.886G>A (p.Asp296Asn)	RIMBP2 (D187N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621616	NM_001393629.1(RIMBP2):c.878G>A (p.Gly293Asp)	RIMBP2 (G276D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154333	NM_001393629.1(RIMBP2):c.859C>T (p.Pro287Ser)	RIMBP2 (P287S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358390	NM_001393629.1(RIMBP2):c.842T>C (p.Ile281Thr)	RIMBP2 (I172T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256468	NM_001393629.1(RIMBP2):c.838C>T (p.His280Tyr)	RIMBP2 (H171Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361923	NM_001393629.1(RIMBP2):c.823G>A (p.Gly275Ser)	RIMBP2 (G166S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606308	NM_001393629.1(RIMBP2):c.793G>C (p.Asp265His)	RIMBP2 (D265H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412354	NM_001393629.1(RIMBP2):c.757G>A (p.Glu253Lys)	RIMBP2 (E253K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211566	NM_001393629.1(RIMBP2):c.713G>A (p.Arg238Lys)	RIMBP2 (R238K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314336	NM_001393629.1(RIMBP2):c.638C>T (p.Ala213Val)	RIMBP2 (A213V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316770	NM_001393629.1(RIMBP2):c.580A>G (p.Ser194Gly)	RIMBP2 (S194G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308846	NM_001393629.1(RIMBP2):c.530C>T (p.Thr177Ile)	RIMBP2 (T177I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317750	NM_001393629.1(RIMBP2):c.481G>A (p.Ala161Thr)	RIMBP2 (A144T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643596	NM_001393629.1(RIMBP2):c.417G>T (p.Pro139=)	RIMBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3314333	NM_001393629.1(RIMBP2):c.416C>T (p.Pro139Leu)	RIMBP2 (P122L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154331	NM_001393629.1(RIMBP2):c.407G>A (p.Arg136Gln)	RIMBP2 (R27Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350104	NM_001393629.1(RIMBP2):c.389C>T (p.Ala130Val)	RIMBP2 (A21V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154329	NM_001393629.1(RIMBP2):c.341C>A (p.Ala114Asp)	RIMBP2 (A114D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304928	NM_001393629.1(RIMBP2):c.290A>G (p.Asp97Gly)	RIMBP2 (D97G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240567	NM_001393629.1(RIMBP2):c.235C>T (p.Arg79Trp)	RIMBP2 (R62W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315424	NM_001393629.1(RIMBP2):c.185G>A (p.Arg62Gln)	RIMBP2 (R45Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154335	NM_001393629.1(RIMBP2):c.88G>T (p.Asp30Tyr)	RIMBP2 (D30Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643597	NM_001393629.1(RIMBP2):c.36G>A (p.Gln12=)	RIMBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2310195	NM_001393629.1(RIMBP2):c.31C>A (p.Leu11Met)	RIMBP2 (L11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57075	GRCh38/hg38 12q24.33(chr12:130648435-130806970)x3	LOC121838570, LOC124849284 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980997	GRCh37/hg19 12q24.33(chr12:130192184-131023667)x3	FZD10, PIWIL1 +2 more	Copy number gain	not provided	GLikely benign
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic

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