ClinVar for Gene (Select 283358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132673	NM_173593.4(B4GALNT3):c.869A>G (p.Gln290Arg)	B4GALNT3 (Q290R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132671	NM_173593.4(B4GALNT3):c.644G>T (p.Gly215Val)	B4GALNT3 (G215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132670	NM_173593.4(B4GALNT3):c.511T>C (p.Phe171Leu)	B4GALNT3 (F171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132669	NM_173593.4(B4GALNT3):c.476T>C (p.Val159Ala)	B4GALNT3 (V159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132668	NM_173593.4(B4GALNT3):c.403A>C (p.Ile135Leu)	B4GALNT3 (I135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132667	NM_173593.4(B4GALNT3):c.2923T>C (p.Ser975Pro)	B4GALNT3 (S975P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132666	NM_173593.4(B4GALNT3):c.2918G>A (p.Arg973His)	B4GALNT3 (R973H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132665	NM_173593.4(B4GALNT3):c.2077C>T (p.Arg693Cys)	B4GALNT3 (R693C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132664	NM_173593.4(B4GALNT3):c.202C>G (p.Leu68Val)	B4GALNT3 (L68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132663	NM_173593.4(B4GALNT3):c.1921C>T (p.Arg641Trp)	B4GALNT3 (R641W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132662	NM_173593.4(B4GALNT3):c.1789G>A (p.Ala597Thr)	B4GALNT3 (A597T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132660	NM_173593.4(B4GALNT3):c.1720C>T (p.Arg574Trp)	B4GALNT3 (R574W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132659	NM_173593.4(B4GALNT3):c.1583A>T (p.His528Leu)	B4GALNT3 (H528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132658	NM_173593.4(B4GALNT3):c.1477C>T (p.Arg493Trp)	B4GALNT3 (R493W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132657	NM_173593.4(B4GALNT3):c.1316C>T (p.Ala439Val)	B4GALNT3 (A439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3024830	NM_173593.4(B4GALNT3):c.2660G>C (p.Gly887Ala)	B4GALNT3 (G887A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684665	GRCh37/hg19 12p13.33(chr12:519737-898648)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684663	GRCh37/hg19 12p13.33(chr12:332362-1590974)x3	B4GALNT3, CCDC77 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642564	NM_173593.4(B4GALNT3):c.2178G>A (p.Ser726=)	B4GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612446	NM_173593.4(B4GALNT3):c.1444C>T (p.Pro482Ser)	B4GALNT3 (P482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611716	NM_173593.4(B4GALNT3):c.2236G>A (p.Glu746Lys)	B4GALNT3 (E746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610629	NM_173593.4(B4GALNT3):c.2306C>T (p.Ala769Val)	B4GALNT3 (A769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582911	GRCh37/hg19 12p13.33(chr12:336731-674567)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2541342	NM_173593.4(B4GALNT3):c.1625C>T (p.Pro542Leu)	B4GALNT3 (P542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527270	NM_173593.4(B4GALNT3):c.1982G>A (p.Gly661Asp)	B4GALNT3 (G661D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513775	NM_173593.4(B4GALNT3):c.793C>T (p.Arg265Trp)	B4GALNT3 (R265W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509883	NM_173593.4(B4GALNT3):c.1736G>A (p.Arg579Gln)	B4GALNT3 (R579Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491178	NM_173593.4(B4GALNT3):c.2164G>A (p.Val722Met)	B4GALNT3 (V722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488394	NM_173593.4(B4GALNT3):c.2965A>T (p.Met989Leu)	B4GALNT3 (M989L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478628	NM_173593.4(B4GALNT3):c.1735C>G (p.Arg579Gly)	B4GALNT3 (R579G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467391	NM_173593.4(B4GALNT3):c.968G>A (p.Arg323Gln)	B4GALNT3 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466850	NM_173593.4(B4GALNT3):c.1787C>A (p.Ala596Asp)	B4GALNT3 (A596D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465770	NM_173593.4(B4GALNT3):c.998T>G (p.Val333Gly)	B4GALNT3 (V333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461040	NM_173593.4(B4GALNT3):c.769G>A (p.Asp257Asn)	B4GALNT3 (D257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455808	NM_173593.4(B4GALNT3):c.995G>A (p.Arg332Gln)	B4GALNT3 (R332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2408494	NM_173593.4(B4GALNT3):c.1271G>A (p.Gly424Asp)	B4GALNT3 (G424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403647	NM_173593.4(B4GALNT3):c.1357C>T (p.Leu453Phe)	B4GALNT3 (L453F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401799	NM_173593.4(B4GALNT3):c.2602G>A (p.Val868Met)	B4GALNT3 (V868M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387719	NM_173593.4(B4GALNT3):c.2359G>A (p.Val787Met)	B4GALNT3 (V787M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379631	NM_173593.4(B4GALNT3):c.2279G>A (p.Arg760His)	B4GALNT3 (R760H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378013	NM_173593.4(B4GALNT3):c.1427G>A (p.Arg476Gln)	B4GALNT3 (R476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377460	NM_173593.4(B4GALNT3):c.2960G>A (p.Arg987Gln)	B4GALNT3 (R987Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371523	NM_173593.4(B4GALNT3):c.183G>C (p.Trp61Cys)	B4GALNT3 (W61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368707	NM_173593.4(B4GALNT3):c.1563G>T (p.Glu521Asp)	B4GALNT3 (E521D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368360	NM_173593.4(B4GALNT3):c.1930G>A (p.Asp644Asn)	B4GALNT3 (D644N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368359	NM_173593.4(B4GALNT3):c.1024C>T (p.Arg342Cys)	B4GALNT3 (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356409	NM_173593.4(B4GALNT3):c.2844G>C (p.Glu948Asp)	B4GALNT3 (E948D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353383	NM_173593.4(B4GALNT3):c.1889C>T (p.Pro630Leu)	B4GALNT3 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353261	NM_173593.4(B4GALNT3):c.2446G>A (p.Gly816Ser)	B4GALNT3 (G816S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344037	NM_173593.4(B4GALNT3):c.271G>A (p.Glu91Lys)	B4GALNT3 (E91K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343415	NM_173593.4(B4GALNT3):c.148G>A (p.Gly50Ser)	B4GALNT3 (G50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338525	NM_173593.4(B4GALNT3):c.716C>T (p.Ala239Val)	B4GALNT3 (A239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321976	NM_173593.4(B4GALNT3):c.2678G>A (p.Arg893Gln)	B4GALNT3 (R893Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312149	NM_173593.4(B4GALNT3):c.158C>T (p.Pro53Leu)	B4GALNT3 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299584	NM_173593.4(B4GALNT3):c.1426C>T (p.Arg476Trp)	B4GALNT3 (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296912	NM_173593.4(B4GALNT3):c.2162G>A (p.Arg721His)	B4GALNT3 (R721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293428	NM_173593.4(B4GALNT3):c.1448G>A (p.Arg483Gln)	B4GALNT3 (R483Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291739	NM_173593.4(B4GALNT3):c.1625C>G (p.Pro542Arg)	B4GALNT3 (P542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286782	NM_173593.4(B4GALNT3):c.2726G>T (p.Arg909Met)	B4GALNT3 (R909M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285690	NM_173593.4(B4GALNT3):c.2507T>C (p.Met836Thr)	B4GALNT3 (M836T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285689	NM_173593.4(B4GALNT3):c.2239G>C (p.Ala747Pro)	B4GALNT3 (A747P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283415	NM_173593.4(B4GALNT3):c.2977C>T (p.Arg993Cys)	B4GALNT3 (R993C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267551	NM_173593.4(B4GALNT3):c.884G>T (p.Gly295Val)	B4GALNT3 (G295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264954	NM_173593.4(B4GALNT3):c.2594T>C (p.Ile865Thr)	B4GALNT3 (I865T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264478	NM_173593.4(B4GALNT3):c.1735C>T (p.Arg579Trp)	B4GALNT3 (R579W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243834	NM_173593.4(B4GALNT3):c.370C>G (p.Leu124Val)	B4GALNT3 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240804	NM_173593.4(B4GALNT3):c.64C>A (p.Arg22Ser)	B4GALNT3 (R22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237564	NM_173593.4(B4GALNT3):c.103G>A (p.Gly35Arg)	B4GALNT3 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234985	NM_173593.4(B4GALNT3):c.844C>T (p.Leu282Phe)	B4GALNT3 (L282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234885	NM_173593.4(B4GALNT3):c.1132A>G (p.Asn378Asp)	B4GALNT3 (N378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233190	NM_173593.4(B4GALNT3):c.446A>G (p.His149Arg)	B4GALNT3 (H149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221654	NM_173593.4(B4GALNT3):c.1508C>T (p.Thr503Ile)	B4GALNT3 (T503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210504	NM_173593.4(B4GALNT3):c.2161C>T (p.Arg721Cys)	B4GALNT3 (R721C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208375	NM_173593.4(B4GALNT3):c.1640C>T (p.Pro547Leu)	B4GALNT3 (P547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207237	NM_173593.4(B4GALNT3):c.950C>T (p.Pro317Leu)	B4GALNT3 (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808559	GRCh37/hg19 12p13.33(chr12:261086-586662)x3	B4GALNT3, CCDC77 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808434	GRCh37/hg19 12p13.33(chr12:310522-632400)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527674	GRCh37/hg19 12p13.33(chr12:310521-864216)	B4GALNT3, CCDC77 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 815495	GRCh37/hg19 12p13.33(chr12:632355-887855)x3	WNK1, B4GALNT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815494	GRCh37/hg19 12p13.33(chr12:332661-783484)x3	NINJ2, SLC6A13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 815491	GRCh37/hg19 12p13.33(chr12:173786-825782)x1	CCDC77, SLC6A12 +6 more	Copy number loss	not provided	GUncertain significance
Select item 806763	NM_173593.4(B4GALNT3):c.305_308del (p.Asn102fs)	B4GALNT3 (N102fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 781815	NM_173593.4(B4GALNT3):c.2058G>C (p.Arg686=)	B4GALNT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774704	NM_173593.4(B4GALNT3):c.1606C>T (p.His536Tyr)	B4GALNT3 (H536Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774703	NM_173593.4(B4GALNT3):c.1323G>C (p.Glu441Asp)	B4GALNT3 (E441D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771452	NM_173593.4(B4GALNT3):c.2255G>T (p.Gly752Val)	B4GALNT3 (G752V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721593	NM_173593.4(B4GALNT3):c.84G>A (p.Ala28=)	B4GALNT3	Single nucleotide variant (synonymous variant)	not provided	GBenign

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