ClinVar for Gene (Select 8476) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140860	NM_001394014.1(CDC42BPA):c.811T>A (p.Cys271Ser)	CDC42BPA (C271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140859	NM_001394014.1(CDC42BPA):c.72G>T (p.Gln24His)	CDC42BPA (Q24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140857	NM_001394014.1(CDC42BPA):c.5059C>A (p.Pro1687Thr)	CDC42BPA (P1665T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140856	NM_001394014.1(CDC42BPA):c.4984G>A (p.Ala1662Thr)	CDC42BPA (A1662T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140854	NM_001394014.1(CDC42BPA):c.3950T>C (p.Met1317Thr)	CDC42BPA (M1254T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140853	NM_001394014.1(CDC42BPA):c.3125T>C (p.Phe1042Ser)	CDC42BPA (F1007S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140852	NM_001394014.1(CDC42BPA):c.2884G>A (p.Asp962Asn)	CDC42BPA (D962N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140851	NM_001394014.1(CDC42BPA):c.2419C>A (p.Leu807Ile)	CDC42BPA (L807I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140850	NM_001394014.1(CDC42BPA):c.2237C>A (p.Thr746Asn)	CDC42BPA (T665N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140849	NM_001394014.1(CDC42BPA):c.1904C>T (p.Thr635Ile)	CDC42BPA (T554I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140848	NM_001394014.1(CDC42BPA):c.1831A>G (p.Met611Val)	CDC42BPA (M611V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140847	NM_001394014.1(CDC42BPA):c.1611C>G (p.Ile537Met)	CDC42BPA (I537M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140846	NM_001394014.1(CDC42BPA):c.1573G>A (p.Asp525Asn)	CDC42BPA (D525N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140844	NM_001394014.1(CDC42BPA):c.1255A>G (p.Thr419Ala)	CDC42BPA (T419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140843	NM_001394014.1(CDC42BPA):c.1075A>G (p.Ile359Val)	CDC42BPA (I359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639979	NM_001394014.1(CDC42BPA):c.3095G>A (p.Arg1032His)	CDC42BPA (R1010H +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623056	NM_001394014.1(CDC42BPA):c.2375A>T (p.Asn792Ile)	CDC42BPA (N711I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615589	NM_001394014.1(CDC42BPA):c.3928C>T (p.Arg1310Cys)	CDC42BPA (R1194C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590209	NM_001394014.1(CDC42BPA):c.3976G>A (p.Asp1326Asn)	CDC42BPA (D1355N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589773	NM_001394014.1(CDC42BPA):c.415A>G (p.Thr139Ala)	CDC42BPA (T139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570175	NM_001394014.1(CDC42BPA):c.1448C>T (p.Ala483Val)	CDC42BPA (A483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560405	NM_001394014.1(CDC42BPA):c.4525A>C (p.Lys1509Gln)	CDC42BPA (K1393Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543709	NM_001394014.1(CDC42BPA):c.2128A>G (p.Ile710Val)	CDC42BPA (I629V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531889	NM_001394014.1(CDC42BPA):c.2851C>G (p.His951Asp)	CDC42BPA (H870D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515462	NM_001394014.1(CDC42BPA):c.4520C>T (p.Pro1507Leu)	CDC42BPA (P1391L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508798	NM_001394014.1(CDC42BPA):c.1802G>A (p.Arg601Gln)	CDC42BPA (R601Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487502	NM_001394014.1(CDC42BPA):c.923C>T (p.Thr308Ile)	CDC42BPA (T308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484628	NM_001394014.1(CDC42BPA):c.3493G>A (p.Val1165Met)	CDC42BPA (V1102M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473007	NM_001394014.1(CDC42BPA):c.5042G>A (p.Arg1681Gln)	CDC42BPA (R1565Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465554	NM_001394014.1(CDC42BPA):c.4454C>T (p.Ser1485Leu)	CDC42BPA (S1430L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459827	NM_001394014.1(CDC42BPA):c.5210G>A (p.Arg1737Gln)	CDC42BPA (R1621Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456299	NM_001394014.1(CDC42BPA):c.128A>G (p.Asn43Ser)	CDC42BPA (N43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390445	NM_001394014.1(CDC42BPA):c.137C>T (p.Pro46Leu)	CDC42BPA (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384201	NM_001394014.1(CDC42BPA):c.1225G>T (p.Val409Leu)	CDC42BPA (V409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378817	NM_001394014.1(CDC42BPA):c.565A>G (p.Ile189Val)	CDC42BPA (I189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366746	NM_001394014.1(CDC42BPA):c.5147C>T (p.Pro1716Leu)	CDC42BPA (P1681L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359802	NM_001394014.1(CDC42BPA):c.1138A>T (p.Asn380Tyr)	CDC42BPA (N380Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357440	NM_001394014.1(CDC42BPA):c.5192C>G (p.Pro1731Arg)	CDC42BPA (P1615R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356844	NM_001394014.1(CDC42BPA):c.1256C>T (p.Thr419Met)	CDC42BPA (T419M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351909	NM_001394014.1(CDC42BPA):c.3157T>G (p.Ser1053Ala)	CDC42BPA (S998A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351492	NM_001394014.1(CDC42BPA):c.4658G>A (p.Arg1553Gln)	CDC42BPA (R1582Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349021	NM_001394014.1(CDC42BPA):c.4382G>A (p.Arg1461Gln)	CDC42BPA (R1461Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348373	NM_001394014.1(CDC42BPA):c.4547A>G (p.Asn1516Ser)	CDC42BPA (N1494S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328286	NM_001394014.1(CDC42BPA):c.281T>C (p.Val94Ala)	CDC42BPA (V94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319975	NM_001394014.1(CDC42BPA):c.5203T>A (p.Ser1735Thr)	CDC42BPA (S1672T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315923	NM_001394014.1(CDC42BPA):c.2888C>T (p.Ala963Val)	CDC42BPA (A882V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299316	NM_001394014.1(CDC42BPA):c.4075C>G (p.Gln1359Glu)	CDC42BPA (Q1337E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290319	NM_001394014.1(CDC42BPA):c.5035G>T (p.Ala1679Ser)	CDC42BPA (A1644S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288843	NM_001394014.1(CDC42BPA):c.4694G>A (p.Arg1565His)	CDC42BPA (R1449H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283675	NM_001394014.1(CDC42BPA):c.4223A>G (p.Asn1408Ser)	CDC42BPA (N1345S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281098	NM_001394014.1(CDC42BPA):c.1979A>G (p.Glu660Gly)	CDC42BPA (E660G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280425	NM_001394014.1(CDC42BPA):c.4427C>G (p.Ser1476Cys)	CDC42BPA (S1413C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273050	NM_001394014.1(CDC42BPA):c.5134G>A (p.Asp1712Asn)	CDC42BPA (D1712N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271410	NM_001394014.1(CDC42BPA):c.3316G>C (p.Ala1106Pro)	CDC42BPA (A1106P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263008	NM_001394014.1(CDC42BPA):c.1900C>A (p.His634Asn)	CDC42BPA (H553N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255564	NM_001394014.1(CDC42BPA):c.3251G>A (p.Cys1084Tyr)	CDC42BPA (C1062Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243496	NM_001394014.1(CDC42BPA):c.3331G>C (p.Val1111Leu)	CDC42BPA (V1056L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229012	NM_001394014.1(CDC42BPA):c.3533G>A (p.Arg1178Gln)	CDC42BPA (R1115Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216505	NM_001394014.1(CDC42BPA):c.814A>G (p.Met272Val)	CDC42BPA (M272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 790637	NM_001394014.1(CDC42BPA):c.3698G>A (p.Arg1233His)	CDC42BPA (R1170H +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790636	NM_001394014.1(CDC42BPA):c.4983C>T (p.Ser1661=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775675	NM_001394014.1(CDC42BPA):c.692C>T (p.Thr231Met)	CDC42BPA (T231M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774590	NM_001394014.1(CDC42BPA):c.870A>G (p.Thr290=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773420	NM_001394014.1(CDC42BPA):c.2652G>A (p.Ser884=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 763783	NM_001394014.1(CDC42BPA):c.1617G>A (p.Thr539=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739372	NM_001394014.1(CDC42BPA):c.3300G>A (p.Gln1100=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737824	NM_001394014.1(CDC42BPA):c.3776-8T>G	CDC42BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716443	NM_001394014.1(CDC42BPA):c.2369A>G (p.Tyr790Cys)	CDC42BPA (Y709C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 707883	NM_001394014.1(CDC42BPA):c.4455G>A (p.Ser1485=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686152	GRCh37/hg19 1q42.13(chr1:227259716-227756078)x3	CDC42BPA, ZNF678	Copy number gain	not provided	GUncertain significance
Select item 685224	GRCh37/hg19 1q42.12-42.13(chr1:226853676-227246753)x1	CDC42BPA, COQ8A +2 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 375332	NC_000001.10:g.227150977_227195656del44680	CDC42BPA, COQ8A +3 more	Deletion	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 151313	GRCh38/hg38 1q42.13(chr1:227076872-227173125)x1	CDC42BPA	Copy number loss	See cases	GUncertain significance
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 147492	GRCh38/hg38 1q42.13(chr1:227127485-227859407)x1	CDC42BPA, JMJD4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic

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