B3GALNT2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1201033	NM_152490.5(B3GALNT2):c.1368+242G>A	B3GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678122	NM_152490.5(B3GALNT2):c.1368+93A>G	B3GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270050	NM_152490.5(B3GALNT2):c.1368+55A>G	B3GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1616115	NM_152490.5(B3GALNT2):c.1368+13G>T	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 569198	NM_152490.5(B3GALNT2):c.1368+3A>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1404510	NM_152490.5(B3GALNT2):c.1368+1G>A	B3GALNT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 1007494	NM_152490.5(B3GALNT2):c.1368+1G>C	B3GALNT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2079914	NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)	B3GALNT2 (Q456K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1167441	NM_152490.5(B3GALNT2):c.1361G>C (p.Arg454Thr)	B3GALNT2 (R454T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GBenign
Select item 1687389	NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter)	B3GALNT2 (W446*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely pathogenic
Select item 2117097	NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)	B3GALNT2 (W446*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 1337584	NM_152490.5(B3GALNT2):c.1329G>A (p.Met443Ile)	B3GALNT2 (M443I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331101	NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys)	B3GALNT2 (S442C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 843179	NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn)	B3GALNT2 (D440N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1157944	NM_152490.5(B3GALNT2):c.1312-8A>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1910921	NM_152490.5(B3GALNT2):c.1312-16T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1219314	NM_152490.5(B3GALNT2):c.1312-213G>A	B3GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298111	NM_152490.5(B3GALNT2):c.1311+185A>T	B3GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658348	NM_152490.5(B3GALNT2):c.1311+15C>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 759521	NM_152490.5(B3GALNT2):c.1311+9_1311+11del	B3GALNT2	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 513920	NM_152490.5(B3GALNT2):c.1311+4_1311+5del	B3GALNT2	Deletion (intron variant)	not specified	GLikely benign
Select item 1475007	NM_152490.5(B3GALNT2):c.1311+1G>A	B3GALNT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely pathogenic
Select item 839795	NM_152490.5(B3GALNT2):c.1311+1G>C	B3GALNT2	Single nucleotide variant (splice donor variant)	B3GALNT2-related disorder +1 more	GLikely pathogenic
Select item 1101370	NM_152490.5(B3GALNT2):c.1308T>C (p.Tyr436=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2995857	NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)	B3GALNT2 (Y436C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2574404	NM_152490.5(B3GALNT2):c.1304_1305delinsTACCTGATAGG (p.Thr435delinsIleProAspArg)	B3GALNT2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1010537	NM_152490.5(B3GALNT2):c.1304C>A (p.Thr435Asn)	B3GALNT2 (T435N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2794004	NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 704560	NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=)	B3GALNT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1912693	NM_152490.5(B3GALNT2):c.1289C>T (p.Ser430Leu)	B3GALNT2 (S430L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 940695	NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser)	B3GALNT2 (N429S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1421410	NM_152490.5(B3GALNT2):c.1279G>T (p.Ala427Ser)	B3GALNT2 (A427S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 965147	NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs)	B3GALNT2 (W425fs)	Indel (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 620248	NM_152490.5(B3GALNT2):c.1274G>A (p.Trp425Ter)	B3GALNT2 (W425*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1112836	NM_152490.5(B3GALNT2):c.1266C>T (p.Ile422=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2034759	NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)	B3GALNT2 (K420fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 1986810	NM_152490.5(B3GALNT2):c.1257C>T (p.Ser419=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 951281	NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr)	B3GALNT2 (S419T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1024302	NM_152490.5(B3GALNT2):c.1245A>T (p.Gly415=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 3010951	NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)	B3GALNT2 (G415E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1701128	NM_152490.5(B3GALNT2):c.1234T>G (p.Cys412Gly)	B3GALNT2 (C412G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566669	NM_152490.5(B3GALNT2):c.1233A>T (p.Ala411=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2163586	NM_152490.5(B3GALNT2):c.1223C>G (p.Pro408Arg)	B3GALNT2 (P408R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 540913	NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs)	B3GALNT2 (P408fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2115299	NM_152490.5(B3GALNT2):c.1217C>T (p.Ala406Val)	B3GALNT2 (A406V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 432871	NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr)	B3GALNT2 (A406T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385994	NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GLikely benign
Select item 655913	NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)	B3GALNT2 (P405L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2157573	NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)	B3GALNT2 (S404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051425	NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1038316	NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu)	B3GALNT2 (P403L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 855806	NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser)	B3GALNT2 (P403S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 792684	NM_152490.5(B3GALNT2):c.1197G>A (p.Glu399=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1138246	NM_152490.5(B3GALNT2):c.1188G>A (p.Lys396=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2054746	NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)	B3GALNT2 (K396R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1583063	NM_152490.5(B3GALNT2):c.1182C>T (p.Thr394=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 473880	NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln)	B3GALNT2 (R393Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1989773	NM_152490.5(B3GALNT2):c.1177C>G (p.Arg393Gly)	B3GALNT2 (R393G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1324021	NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)	B3GALNT2 (R393*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 1583396	NM_152490.5(B3GALNT2):c.1152-15T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2981823	NM_152490.5(B3GALNT2):c.1152-17A>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 509410	NM_152490.5(B3GALNT2):c.1152-19A>G	B3GALNT2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1296100	NM_152490.5(B3GALNT2):c.1151+73dup	B3GALNT2	Duplication (intron variant)	not provided	GBenign
Select item 1531878	NM_152490.5(B3GALNT2):c.1151+14T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1602596	NC_000001.11:g.235455553ACTT[3]	B3GALNT2	Microsatellite (genic downstream transcript variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1577029	NM_152490.5(B3GALNT2):c.1116A>G (p.Gln372=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 473879	NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe)	B3GALNT2 (I370F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1632723	NM_152490.5(B3GALNT2):c.1104T>C (p.Asn368=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2162012	NM_152490.5(B3GALNT2):c.1099T>G (p.Phe367Val)	B3GALNT2 (F367V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1605878	NM_152490.5(B3GALNT2):c.1095T>C (p.Ala365=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 706014	NM_152490.5(B3GALNT2):c.1092A>G (p.Glu364=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1007778	NM_152490.5(B3GALNT2):c.1090G>A (p.Glu364Lys)	B3GALNT2 (E364K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 388011	NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=)	B3GALNT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2320311	NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)	B3GALNT2 (L363R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 1486329	NM_152490.5(B3GALNT2):c.1081A>G (p.Ile361Val)	B3GALNT2 (I361V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1055131	NM_152490.5(B3GALNT2):c.1081A>C (p.Ile361Leu)	B3GALNT2 (I361L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 540916	NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr)	B3GALNT2 (C359Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2113653	NM_152490.5(B3GALNT2):c.1069G>C (p.Asp357His)	B3GALNT2 (D357H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 846522	NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)	B3GALNT2 (D357N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1451522	NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer)	B3GALNT2	Deletion (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 1643503	NM_152490.5(B3GALNT2):c.1065A>G (p.Thr355=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2730146	NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 540915	NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val)	B3GALNT2 (L353V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2417564	NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1377594	NM_152490.5(B3GALNT2):c.1052T>G (p.Leu351Trp)	B3GALNT2 (L351W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1986084	NM_152490.5(B3GALNT2):c.1051T>C (p.Leu351=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2736330	NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2003575	NM_152490.5(B3GALNT2):c.1048A>C (p.Asn350His)	B3GALNT2 (N350H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1090674	NM_152490.5(B3GALNT2):c.1041G>A (p.Thr347=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1474110	NM_152490.5(B3GALNT2):c.1035AAC[1] (p.Thr347del)	B3GALNT2 (T347del)	Microsatellite (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1455909	NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs)	B3GALNT2 (T347fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 862844	NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met)	B3GALNT2 (T347M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 1999698	NM_152490.5(B3GALNT2):c.1039A>C (p.Thr347Pro)	B3GALNT2 (T347P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2897672	NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1914292	NM_152490.5(B3GALNT2):c.1034A>G (p.Glu345Gly)	B3GALNT2 (E345G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2897410	NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2166330	NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)	B3GALNT2 (V344M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2070943	NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)	B3GALNT2 (W342C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2065649	NM_152490.5(B3GALNT2):c.1026-5A>T	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 1096049	NM_152490.5(B3GALNT2):c.1026-8G>T	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign

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