26315[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 134

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +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	LOC130005042, LOC130005061 +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 3132680	NM_178537.5(B4GALNT4):c.145G>C (p.Gly49Arg)	B4GALNT4 (G49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GLikely benign
Select item 2239588	NM_178537.5(B4GALNT4):c.191T>C (p.Val64Ala)	B4GALNT4 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469974	NM_178537.5(B4GALNT4):c.196G>A (p.Ala66Thr)	B4GALNT4 (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494180	NM_178537.5(B4GALNT4):c.250C>A (p.Gln84Lys)	B4GALNT4 (Q84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355302	NM_178537.5(B4GALNT4):c.254C>T (p.Ala85Val)	B4GALNT4 (A85V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526204	NM_178537.5(B4GALNT4):c.290G>C (p.Gly97Ala)	B4GALNT4 (G97A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514600	NM_178537.5(B4GALNT4):c.446C>T (p.Thr149Met)	B4GALNT4 (T149M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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 3132690	NM_178537.5(B4GALNT4):c.718C>T (p.Arg240Trp)	B4GALNT4 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505086	NM_178537.5(B4GALNT4):c.850+4C>T	B4GALNT4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3132691	NM_178537.5(B4GALNT4):c.885C>G (p.His295Gln)	B4GALNT4 (H295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467555	NM_178537.5(B4GALNT4):c.910G>A (p.Val304Met)	B4GALNT4 (V304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362915	NM_178537.5(B4GALNT4):c.913G>A (p.Gly305Arg)	B4GALNT4 (G305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259327	NM_178537.5(B4GALNT4):c.923C>T (p.Pro308Leu)	B4GALNT4 (P308L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2641039	NM_178537.5(B4GALNT4):c.927G>C (p.Pro309=)	B4GALNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132692	NM_178537.5(B4GALNT4):c.928C>A (p.Gln310Lys)	B4GALNT4 (Q310K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259275	NM_178537.5(B4GALNT4):c.974C>T (p.Thr325Ile)	B4GALNT4 (T325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	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)	not specified	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 3132674	NM_178537.5(B4GALNT4):c.1049A>G (p.Tyr350Cys)	B4GALNT4 (Y350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132675	NM_178537.5(B4GALNT4):c.1065C>A (p.Phe355Leu)	B4GALNT4 (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491741	NM_178537.5(B4GALNT4):c.1073C>T (p.Ala358Val)	B4GALNT4 (A358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132677	NM_178537.5(B4GALNT4):c.1115A>T (p.Tyr372Phe)	B4GALNT4 (Y372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268577	NM_178537.5(B4GALNT4):c.1181C>T (p.Pro394Leu)	B4GALNT4 (P394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259286	NM_178537.5(B4GALNT4):c.1201G>T (p.Gly401Trp)	B4GALNT4 (G401W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553335	NM_178537.5(B4GALNT4):c.1214A>T (p.Tyr405Phe)	B4GALNT4 (Y405F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302622	NM_178537.5(B4GALNT4):c.1237G>A (p.Gly413Arg)	B4GALNT4 (G413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588568	NM_178537.5(B4GALNT4):c.1261G>A (p.Val421Met)	B4GALNT4 (V421M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463162	NM_178537.5(B4GALNT4):c.1276T>C (p.Phe426Leu)	B4GALNT4 (F426L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GLikely benign
Select item 3132678	NM_178537.5(B4GALNT4):c.1423G>A (p.Ala475Thr)	B4GALNT4 (A475T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559772	NM_178537.5(B4GALNT4):c.1427C>T (p.Pro476Leu)	B4GALNT4 (P476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132679	NM_178537.5(B4GALNT4):c.1430C>G (p.Pro477Arg)	B4GALNT4 (P477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259349	NM_178537.5(B4GALNT4):c.1439C>A (p.Pro480His)	B4GALNT4 (P480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244192	NM_178537.5(B4GALNT4):c.1448G>A (p.Arg483Gln)	B4GALNT4 (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318370	NM_178537.5(B4GALNT4):c.1457G>A (p.Gly486Glu)	B4GALNT4 (G486E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551381	NM_178537.5(B4GALNT4):c.1460C>A (p.Thr487Asn)	B4GALNT4 (T487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395937	NM_178537.5(B4GALNT4):c.1465A>G (p.Arg489Gly)	B4GALNT4 (R489G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259371	NM_178537.5(B4GALNT4):c.1468C>T (p.His490Tyr)	B4GALNT4 (H490Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132681	NM_178537.5(B4GALNT4):c.1514C>G (p.Pro505Arg)	B4GALNT4 (P505R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259317	NM_178537.5(B4GALNT4):c.1561C>G (p.Pro521Ala)	B4GALNT4 (P521A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305588	NM_178537.5(B4GALNT4):c.1609T>G (p.Ser537Ala)	B4GALNT4 (S537A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132682	NM_178537.5(B4GALNT4):c.1642C>T (p.Pro548Ser)	B4GALNT4 (P548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259245	NM_178537.5(B4GALNT4):c.1717C>T (p.Arg573Trp)	B4GALNT4 (R573W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353441	NM_178537.5(B4GALNT4):c.1717C>G (p.Arg573Gly)	B4GALNT4 (R573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274066	NM_178537.5(B4GALNT4):c.1741G>A (p.Gly581Ser)	B4GALNT4 (G581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132683	NM_178537.5(B4GALNT4):c.1744C>T (p.Pro582Ser)	B4GALNT4 (P582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263650	NM_178537.5(B4GALNT4):c.1810G>T (p.Ala604Ser)	B4GALNT4 (A604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132684	NM_178537.5(B4GALNT4):c.1811C>T (p.Ala604Val)	B4GALNT4 (A604V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259256	NM_178537.5(B4GALNT4):c.1817C>T (p.Thr606Met)	B4GALNT4 (T606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246526	NM_178537.5(B4GALNT4):c.1817C>A (p.Thr606Lys)	B4GALNT4 (T606K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395188	NM_178537.5(B4GALNT4):c.1858T>G (p.Ser620Ala)	B4GALNT4 (S620A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241065	NM_178537.5(B4GALNT4):c.1900G>A (p.Val634Met)	B4GALNT4 (V634M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382686	NM_178537.5(B4GALNT4):c.1950G>T (p.Glu650Asp)	B4GALNT4 (E650D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594096	NM_178537.5(B4GALNT4):c.1960G>A (p.Ala654Thr)	B4GALNT4 (A654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281965	NM_178537.5(B4GALNT4):c.1991G>A (p.Ser664Asn)	B4GALNT4 (S664N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326995	NM_178537.5(B4GALNT4):c.2002G>A (p.Ala668Thr)	B4GALNT4 (A668T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295680	NM_178537.5(B4GALNT4):c.2027G>C (p.Arg676Pro)	B4GALNT4 (R676P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623685	NM_178537.5(B4GALNT4):c.2038A>G (p.Ile680Val)	B4GALNT4 (I680V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132686	NM_178537.5(B4GALNT4):c.2147C>T (p.Ala716Val)	B4GALNT4 (A716V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489489	NM_178537.5(B4GALNT4):c.2212G>T (p.Ala738Ser)	B4GALNT4 (A738S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558429	NM_178537.5(B4GALNT4):c.2245C>T (p.Arg749Trp)	B4GALNT4 (R749W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259235	NM_178537.5(B4GALNT4):c.2293G>C (p.Glu765Gln)	B4GALNT4 (E765Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335849	NM_178537.5(B4GALNT4):c.2339G>C (p.Arg780Pro)	B4GALNT4 (R780P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259360	NM_178537.5(B4GALNT4):c.2362G>T (p.Asp788Tyr)	B4GALNT4 (D788Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259266	NM_178537.5(B4GALNT4):c.2392C>T (p.Pro798Ser)	B4GALNT4 (P798S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356766	NM_178537.5(B4GALNT4):c.2420G>A (p.Arg807His)	B4GALNT4 (R807H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258194	NM_178537.5(B4GALNT4):c.2444G>T (p.Arg815Leu)	B4GALNT4 (R815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239216	NM_178537.5(B4GALNT4):c.2469G>A (p.Met823Ile)	B4GALNT4 (M823I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132687	NM_178537.5(B4GALNT4):c.2518T>A (p.Phe840Ile)	B4GALNT4 (F840I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593798	NM_178537.5(B4GALNT4):c.2543A>G (p.His848Arg)	B4GALNT4 (H848R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132688	NM_178537.5(B4GALNT4):c.2557G>T (p.Asp853Tyr)	B4GALNT4 (D853Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390805	NM_178537.5(B4GALNT4):c.2563C>T (p.Arg855Cys)	B4GALNT4 (R855C)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3132689	NM_178537.5(B4GALNT4):c.2716G>A (p.Asp906Asn)	B4GALNT4 (D906N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259306	NM_178537.5(B4GALNT4):c.2719G>T (p.Ala907Ser)	B4GALNT4 (A907S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251427	NM_178537.5(B4GALNT4):c.2741G>A (p.Cys914Tyr)	B4GALNT4 (C914Y)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2316665	NM_178537.5(B4GALNT4):c.2860G>A (p.Asp954Asn)	B4GALNT4 (D954N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2