B4GALNT4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 157193	NC_000011.10:g.264391_396308dup	B4GALNT4, IFITM1 +27 more	Duplication	Small for gestational age	Gnot provided
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144998	GRCh38/hg38 11p15.5(chr11:313991-504786)x3	ANO9, B4GALNT4 +35 more	Copy number gain	See cases	GBenign
Select item 151276	GRCh38/hg38 11p15.5(chr11:359217-414570)x3	B4GALNT4, LOC130005062 +4 more	Copy number gain	See cases	GBenign
Select item 152642	GRCh38/hg38 11p15.5(chr11:371634-426161)x3	ANO9, B4GALNT4 +9 more	Copy number gain	See cases	GBenign
Select item 144996	GRCh38/hg38 11p15.5(chr11:371634-414570)x3	B4GALNT4, LOC130005062 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 2261380	NM_178537.5(B4GALNT4):c.169A>G (p.Ser57Gly)	B4GALNT4 (S57G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2239588	NM_178537.5(B4GALNT4):c.191T>C (p.Val64Ala)	B4GALNT4 (V64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469974	NM_178537.5(B4GALNT4):c.196G>A (p.Ala66Thr)	B4GALNT4 (A66T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494180	NM_178537.5(B4GALNT4):c.250C>A (p.Gln84Lys)	B4GALNT4 (Q84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355302	NM_178537.5(B4GALNT4):c.254C>T (p.Ala85Val)	B4GALNT4 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2526204	NM_178537.5(B4GALNT4):c.290G>C (p.Gly97Ala)	B4GALNT4 (G97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514600	NM_178537.5(B4GALNT4):c.446C>T (p.Thr149Met)	B4GALNT4 (T149M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713985	NM_178537.5(B4GALNT4):c.480C>T (p.Pro160=)	B4GALNT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548236	NM_178537.5(B4GALNT4):c.610G>T (p.Ala204Ser)	B4GALNT4 (A204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505085	NM_178537.5(B4GALNT4):c.631G>A (p.Gly211Ser)	B4GALNT4 (G211S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2505086	NM_178537.5(B4GALNT4):c.850+4C>T	B4GALNT4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2467555	NM_178537.5(B4GALNT4):c.910G>A (p.Val304Met)	B4GALNT4 (V304M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362915	NM_178537.5(B4GALNT4):c.913G>A (p.Gly305Arg)	B4GALNT4 (G305R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641039	NM_178537.5(B4GALNT4):c.927G>C (p.Pro309=)	B4GALNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716167	NM_178537.5(B4GALNT4):c.985+7G>A	B4GALNT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2493721	NM_178537.5(B4GALNT4):c.1000T>C (p.Ser334Pro)	B4GALNT4 (S334P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2641040	NM_178537.5(B4GALNT4):c.1011G>A (p.Leu337=)	B4GALNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547413	NM_178537.5(B4GALNT4):c.1028C>G (p.Pro343Arg)	B4GALNT4 (P343R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688660	NM_178537.5(B4GALNT4):c.1039G>A (p.Ala347Thr)	B4GALNT4 (A347T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491741	NM_178537.5(B4GALNT4):c.1073C>T (p.Ala358Val)	B4GALNT4 (A358V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268577	NM_178537.5(B4GALNT4):c.1181C>T (p.Pro394Leu)	B4GALNT4 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553335	NM_178537.5(B4GALNT4):c.1214A>T (p.Tyr405Phe)	B4GALNT4 (Y405F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302622	NM_178537.5(B4GALNT4):c.1237G>A (p.Gly413Arg)	B4GALNT4 (G413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588568	NM_178537.5(B4GALNT4):c.1261G>A (p.Val421Met)	B4GALNT4 (V421M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463162	NM_178537.5(B4GALNT4):c.1276T>C (p.Phe426Leu)	B4GALNT4 (F426L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779129	NM_178537.5(B4GALNT4):c.1289A>G (p.Asn430Ser)	B4GALNT4 (N430S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2391137	NM_178537.5(B4GALNT4):c.1379A>C (p.Gln460Pro)	B4GALNT4 (Q460P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2559772	NM_178537.5(B4GALNT4):c.1427C>T (p.Pro476Leu)	B4GALNT4 (P476L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244192	NM_178537.5(B4GALNT4):c.1448G>A (p.Arg483Gln)	B4GALNT4 (R483Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318370	NM_178537.5(B4GALNT4):c.1457G>A (p.Gly486Glu)	B4GALNT4 (G486E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551381	NM_178537.5(B4GALNT4):c.1460C>A (p.Thr487Asn)	B4GALNT4 (T487N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395937	NM_178537.5(B4GALNT4):c.1465A>G (p.Arg489Gly)	B4GALNT4 (R489G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305588	NM_178537.5(B4GALNT4):c.1609T>G (p.Ser537Ala)	B4GALNT4 (S537A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353441	NM_178537.5(B4GALNT4):c.1717C>G (p.Arg573Gly)	B4GALNT4 (R573G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274066	NM_178537.5(B4GALNT4):c.1741G>A (p.Gly581Ser)	B4GALNT4 (G581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263650	NM_178537.5(B4GALNT4):c.1810G>T (p.Ala604Ser)	B4GALNT4 (A604S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246526	NM_178537.5(B4GALNT4):c.1817C>A (p.Thr606Lys)	B4GALNT4 (T606K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395188	NM_178537.5(B4GALNT4):c.1858T>G (p.Ser620Ala)	B4GALNT4 (S620A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241065	NM_178537.5(B4GALNT4):c.1900G>A (p.Val634Met)	B4GALNT4 (V634M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382686	NM_178537.5(B4GALNT4):c.1950G>T (p.Glu650Asp)	B4GALNT4 (E650D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594096	NM_178537.5(B4GALNT4):c.1960G>A (p.Ala654Thr)	B4GALNT4 (A654T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281965	NM_178537.5(B4GALNT4):c.1991G>A (p.Ser664Asn)	B4GALNT4 (S664N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326995	NM_178537.5(B4GALNT4):c.2002G>A (p.Ala668Thr)	B4GALNT4 (A668T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295680	NM_178537.5(B4GALNT4):c.2027G>C (p.Arg676Pro)	B4GALNT4 (R676P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623685	NM_178537.5(B4GALNT4):c.2038A>G (p.Ile680Val)	B4GALNT4 (I680V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489489	NM_178537.5(B4GALNT4):c.2212G>T (p.Ala738Ser)	B4GALNT4 (A738S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558429	NM_178537.5(B4GALNT4):c.2245C>T (p.Arg749Trp)	B4GALNT4 (R749W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335849	NM_178537.5(B4GALNT4):c.2339G>C (p.Arg780Pro)	B4GALNT4 (R780P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356766	NM_178537.5(B4GALNT4):c.2420G>A (p.Arg807His)	B4GALNT4 (R807H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258194	NM_178537.5(B4GALNT4):c.2444G>T (p.Arg815Leu)	B4GALNT4 (R815L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239216	NM_178537.5(B4GALNT4):c.2469G>A (p.Met823Ile)	B4GALNT4 (M823I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593798	NM_178537.5(B4GALNT4):c.2543A>G (p.His848Arg)	B4GALNT4 (H848R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390805	NM_178537.5(B4GALNT4):c.2563C>T (p.Arg855Cys)	B4GALNT4 (R855C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641041	NM_178537.5(B4GALNT4):c.2571C>T (p.Ser857=)	B4GALNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470534	NM_178537.5(B4GALNT4):c.2596G>A (p.Glu866Lys)	B4GALNT4 (E866K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251427	NM_178537.5(B4GALNT4):c.2741G>A (p.Cys914Tyr)	B4GALNT4 (C914Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641042	NM_178537.5(B4GALNT4):c.2817C>T (p.Phe939=)	B4GALNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268734	NM_178537.5(B4GALNT4):c.2827G>A (p.Val943Ile)	B4GALNT4 (V943I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316665	NM_178537.5(B4GALNT4):c.2860G>A (p.Asp954Asn)	B4GALNT4 (D954N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318544	NM_178537.5(B4GALNT4):c.2949G>C (p.Glu983Asp)	B4GALNT4 (E983D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688659	NM_178537.5(B4GALNT4):c.3031C>T (p.Arg1011Ter)	B4GALNT4 (R1011*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2553651	NM_178537.5(B4GALNT4):c.3086G>A (p.Arg1029His)	B4GALNT4 (R1029H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402711	NM_178537.5(B4GALNT4):c.3103C>T (p.Arg1035Cys)	B4GALNT4 (R1035C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	PHRF1, TALDO1 +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 688993	GRCh37/hg19 11p15.5(chr11:210898-461373)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 624552	GRCh37/hg19 11p15.5(chr11:210300-487062)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 443411	GRCh37/hg19 11p15.5(chr11:230615-378405)x1	B4GALNT4, IFITM1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic

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