NBAS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 147945	GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1	DDX1, GACAT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 145383	GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3	DDX1, GACAT3 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146092	GRCh38/hg38 2p24.3(chr2:15003826-15582823)x1	LOC122756385, LOC122756386 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1294024	NC_000002.12:g.15166737G>C	NBAS	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1420483	NM_015909.4(NBAS):c.7111G>C (p.Val2371Leu)	NBAS (V2371L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643054	NM_015909.4(NBAS):c.7104G>A (p.Gln2368=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1549911	NM_015909.4(NBAS):c.7101A>G (p.Ala2367=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2755375	NM_015909.4(NBAS):c.7098A>G (p.Ala2366=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2163237	NM_015909.4(NBAS):c.7096G>A (p.Ala2366Thr)	NBAS (A2366T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2813465	NM_015909.4(NBAS):c.7095C>A (p.Arg2365=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1630503	NM_015909.4(NBAS):c.7095C>T (p.Arg2365=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1704577	NM_015909.4(NBAS):c.7093C>T (p.Arg2365Cys)	NBAS (R2365C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1618902	NM_015909.4(NBAS):c.7092C>A (p.Leu2364=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2010366	NM_015909.4(NBAS):c.7086A>C (p.Thr2362=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1471618	NM_015909.4(NBAS):c.7084A>G (p.Thr2362Ala)	NBAS (T2362A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1378323	NM_015909.4(NBAS):c.7076C>A (p.Thr2359Asn)	NBAS (T2359N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1895972	NM_015909.4(NBAS):c.7063C>G (p.Gln2355Glu)	NBAS (Q2355E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920133	NM_015909.4(NBAS):c.7062C>G (p.His2354Gln)	NBAS (H2354Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920812	NM_015909.4(NBAS):c.7058C>T (p.Thr2353Ile)	NBAS (T2353I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1625435	NM_015909.4(NBAS):c.7056G>A (p.Gly2352=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966654	NM_015909.4(NBAS):c.7052G>C (p.Arg2351Thr)	NBAS (R2351T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447496	NM_015909.4(NBAS):c.7048G>A (p.Val2350Met)	NBAS (V2350M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1621607	NM_015909.4(NBAS):c.7047C>T (p.Ala2349=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1469525	NM_015909.4(NBAS):c.7041_7043del (p.Leu2348del)	NBAS (L2348del)	Deletion (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1903767	NM_015909.4(NBAS):c.7038C>T (p.Leu2346=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2084074	NM_015909.4(NBAS):c.7035T>G (p.Ser2345=)	NBAS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1306408	NM_015909.4(NBAS):c.7034C>A (p.Ser2345Tyr)	NBAS (S2345Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959271	NM_015909.4(NBAS):c.7032G>T (p.Gly2344=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1931278	NM_015909.4(NBAS):c.7030G>C (p.Gly2344Arg)	NBAS (G2344R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903749	NM_015909.4(NBAS):c.7029C>T (p.Ala2343=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993250	NM_015909.4(NBAS):c.7024G>A (p.Glu2342Lys)	NBAS (E2342K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 738713	NM_015909.4(NBAS):c.7023C>T (p.Ala2341=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1380809	NM_015909.4(NBAS):c.7022C>T (p.Ala2341Val)	NBAS (A2341V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873186	NM_015909.4(NBAS):c.7014C>A (p.Gly2338=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1629038	NM_015909.4(NBAS):c.7014C>T (p.Gly2338=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1928309	NM_015909.4(NBAS):c.7013G>A (p.Gly2338Asp)	NBAS (G2338D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160192	NM_015909.4(NBAS):c.7012G>A (p.Gly2338Ser)	NBAS (G2338S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1100601	NM_015909.4(NBAS):c.7011C>T (p.Ala2337=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1062196	NM_015909.4(NBAS):c.7010C>T (p.Ala2337Val)	NBAS (A2337V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345331	NM_015909.4(NBAS):c.7007_7009del (p.Glu2336del)	NBAS (E2336del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2999593	NM_015909.4(NBAS):c.7005G>C (p.Arg2335=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067431	NM_015909.4(NBAS):c.7004G>A (p.Arg2335Gln)	NBAS (R2335Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1389520	NM_015909.4(NBAS):c.7003C>T (p.Arg2335Trp)	NBAS (R2335W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2904127	NM_015909.4(NBAS):c.7000C>T (p.Leu2334=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	NBAS-related disorder +1 more	GLikely benign
Select item 2065933	NM_015909.4(NBAS):c.6997C>T (p.His2333Tyr)	NBAS (H2333Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1639055	NM_015909.4(NBAS):c.6993C>T (p.Gly2331=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3178172	NM_015909.4(NBAS):c.6992G>A (p.Gly2331Asp)	NBAS (G2331D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178166	NM_015909.4(NBAS):c.6991G>T (p.Gly2331Cys)	NBAS (G2331C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2780889	NM_015909.4(NBAS):c.6988C>T (p.Leu2330=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2029787	NM_015909.4(NBAS):c.6987G>A (p.Glu2329=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392084	NM_015909.4(NBAS):c.6987G>C (p.Glu2329Asp)	NBAS (E2329D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873111	NM_015909.4(NBAS):c.6985_6986delinsTT (p.Glu2329Leu)	NBAS (E2329L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1669675	NM_015909.4(NBAS):c.6984G>A (p.Glu2328=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826122	NM_015909.4(NBAS):c.6980C>G (p.Ala2327Gly)	NBAS (A2327G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1494429	NM_015909.4(NBAS):c.6978T>G (p.Asp2326Glu)	NBAS (D2326E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996733	NM_015909.4(NBAS):c.6977A>G (p.Asp2326Gly)	NBAS (D2326G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449936	NM_015909.4(NBAS):c.6971G>A (p.Arg2324His)	NBAS (R2324H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1032711	NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys)	NBAS (R2324C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2446021	NM_015909.4(NBAS):c.6966_6969delinsTC (p.Gln2322fs)	NBAS (Q2322fs)	Indel (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 1957798	NM_015909.4(NBAS):c.6966A>C (p.Gln2322His)	NBAS (Q2322H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721090	NM_015909.4(NBAS):c.6963G>A (p.Gln2321=)	NBAS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1922694	NM_015909.4(NBAS):c.6959T>C (p.Leu2320Pro)	NBAS (L2320P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1597966	NM_015909.4(NBAS):c.6945C>T (p.His2315=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987816	NM_015909.4(NBAS):c.6935T>C (p.Ile2312Thr)	NBAS (I2312T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727226	NM_015909.4(NBAS):c.6932G>A (p.Arg2311His)	NBAS (R2311H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1479298	NM_015909.4(NBAS):c.6931C>T (p.Arg2311Cys)	NBAS (R2311C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478696	NM_015909.4(NBAS):c.6931C>G (p.Arg2311Gly)	NBAS (R2311G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190403	NM_015909.4(NBAS):c.6929C>T (p.Pro2310Leu)	NBAS (P2310L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1375343	NM_015909.4(NBAS):c.6926A>G (p.Tyr2309Cys)	NBAS (Y2309C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108990	NM_015909.4(NBAS):c.6914C>G (p.Ser2305Cys)	NBAS (S2305C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1331491	NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter)	NBAS (C2303*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1352531	NM_015909.4(NBAS):c.6908G>A (p.Cys2303Tyr)	NBAS (C2303Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2527957	NM_015909.4(NBAS):c.6901G>A (p.Val2301Met)	NBAS (V2301M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247124	NM_015909.4(NBAS):c.6892A>G (p.Lys2298Glu)	NBAS (K2298E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1565617	NM_015909.4(NBAS):c.6888T>C (p.Asp2296=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1217235	NM_015909.4(NBAS):c.6877del (p.Leu2293fs)	NBAS (L2293fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 785959	NM_015909.4(NBAS):c.6876C>G (p.Ser2292=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2301796	NM_015909.4(NBAS):c.6875C>T (p.Ser2292Phe)	NBAS (S2292F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1477911	NM_015909.4(NBAS):c.6875C>G (p.Ser2292Cys)	NBAS (S2292C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122728	NM_015909.4(NBAS):c.6872T>C (p.Leu2291Pro)	NBAS (L2291P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113544	NM_015909.4(NBAS):c.6863A>G (p.Gln2288Arg)	NBAS (Q2288R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574489	NM_015909.4(NBAS):c.6859G>T (p.Asp2287Tyr)	NBAS (D2287Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1899690	NM_015909.4(NBAS):c.6855T>C (p.Asn2285=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752037	NM_015909.4(NBAS):c.6854A>G (p.Asn2285Ser)	NBAS (N2285S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3014992	NM_015909.4(NBAS):c.6852C>T (p.Ser2284=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419099	NM_015909.4(NBAS):c.6847G>A (p.Asp2283Asn)	NBAS (D2283N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928594	NM_015909.4(NBAS):c.6846T>C (p.Asn2282=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524362	NM_015909.4(NBAS):c.6845A>G (p.Asn2282Ser)	NBAS (N2282S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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