B4GAT1[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 195

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1186329	NM_006876.3(B4GAT1):c.*193C>T	B4GAT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1100478	NM_006876.3(B4GAT1):c.1242C>T (p.Arg414=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1396950	NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys)	B4GAT1 (R414C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 524131	NM_006876.3(B4GAT1):c.1233_1234del (p.Arg413fs)	B4GAT1 (R413fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 242670	NM_006876.3(B4GAT1):c.1217C>T (p.Ala406Val)	B4GAT1 (A406V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1640300	NM_006876.3(B4GAT1):c.1209G>A (p.Glu403=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1252009	NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)	B4GAT1 (E403*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GPathogenic
Select item 420656	NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1972892	NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu)	B4GAT1 (F400L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 503771	NM_006876.3(B4GAT1):c.1179_1181del (p.Asn393del)	B4GAT1 (N393del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 779773	NM_006876.3(B4GAT1):c.1176C>T (p.His392=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 242669	NM_006876.3(B4GAT1):c.1168A>G (p.Asn390Asp)	B4GAT1 (N390D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 474248	NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3259557	NM_006876.3(B4GAT1):c.1153C>A (p.Gln385Lys)	B4GAT1 (Q385K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570802	NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 752667	NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1438892	NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg)	B4GAT1 (P384R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 541281	NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)	B4GAT1 (F382L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1939915	NM_006876.3(B4GAT1):c.1137G>A (p.Ala379=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 423075	NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly)	B4GAT1 (A379G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 1371352	NM_006876.3(B4GAT1):c.1122G>A (p.Lys374=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2420919	NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu)	B4GAT1 (H373L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1532187	NM_006876.3(B4GAT1):c.1116T>G (p.Val372=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2641988	NM_006876.3(B4GAT1):c.1110C>A (p.Phe370Leu)	B4GAT1 (F370L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413052	NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser)	B4GAT1 (N367S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 940793	NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met)	B4GAT1 (L366M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2664322	NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter)	B4GAT1 (E364*)	Duplication (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1404947	NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys)	B4GAT1 (E364K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1139379	NM_006876.3(B4GAT1):c.1077G>A (p.Ala359=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1106586	NM_006876.3(B4GAT1):c.1077G>C (p.Ala359=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1611228	NM_006876.3(B4GAT1):c.1074G>A (p.Val358=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1542362	NM_006876.3(B4GAT1):c.1074G>T (p.Val358=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 235443	NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro)	B4GAT1 (L356P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2909104	NM_006876.3(B4GAT1):c.1062C>T (p.Cys354=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1464347	NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg)	B4GAT1 (C354R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 706822	NM_006876.3(B4GAT1):c.1057-6C>T	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2877847	NM_006876.3(B4GAT1):c.1057-13T>C	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1959685	NM_006876.3(B4GAT1):c.1056+17G>A	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1903129	NM_006876.3(B4GAT1):c.1056+15G>A	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2057133	NM_006876.3(B4GAT1):c.1056+11G>A	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1128889	NM_006876.3(B4GAT1):c.1056+7A>T	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 507234	NM_006876.3(B4GAT1):c.1056+6C>G	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GConflicting classifications of pathogenicity
Select item 1521956	NM_006876.3(B4GAT1):c.1045C>A (p.Arg349=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 648835	NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His)	B4GAT1 (R341H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 945642	NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys)	B4GAT1 (E340K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 474247	NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser)	B4GAT1 (T337S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 855519	NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)	B4GAT1 (G332R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1643477	NM_006876.3(B4GAT1):c.993A>G (p.Ala331=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 420609	NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GBenign/Likely benign
Select item 1617861	NM_006876.3(B4GAT1):c.984C>T (p.Phe328=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 664213	NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)	B4GAT1 (F328L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 474252	NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln)	B4GAT1 (P327Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1469501	NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu)	B4GAT1 (V319L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1064288	NM_006876.3(B4GAT1):c.952G>A (p.Val318Met)	B4GAT1 (V318M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 1145689	NM_006876.3(B4GAT1):c.951C>T (p.Tyr317=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 510922	NM_006876.3(B4GAT1):c.924G>A (p.Pro308=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1694055	NM_006876.3(B4GAT1):c.908G>A (p.Arg303His)	B4GAT1 (R303H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307183	NM_006876.3(B4GAT1):c.893CCA[1] (p.Thr299del)	B4GAT1 (T299del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1091968	NM_006876.3(B4GAT1):c.897C>G (p.Thr299=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 968205	NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala)	B4GAT1 (T299A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1949822	NM_006876.3(B4GAT1):c.888G>A (p.Gln296=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1994167	NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp)	B4GAT1 (L291W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1142053	NM_006876.3(B4GAT1):c.870G>A (p.Gly290=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1709842	NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)	B4GAT1 (Y288*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GPathogenic
Select item 1660012	NM_006876.3(B4GAT1):c.861C>T (p.Phe287=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1147614	NM_006876.3(B4GAT1):c.852G>A (p.Val284=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1516401	NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly)	B4GAT1 (V281G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1387762	NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys)	B4GAT1 (Q280K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2138632	NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 946875	NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His)	B4GAT1 (Y279H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1113301	NM_006876.3(B4GAT1):c.828G>A (p.Val276=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 420641	NM_006876.3(B4GAT1):c.828G>T (p.Val276=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 183334	NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)	B4GAT1 (E274fs)	Insertion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +1 more	GPathogenic/Likely pathogenic
Select item 2197366	NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys)	B4GAT1 (N273K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1017612	NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys)	B4GAT1 (R266C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1399896	NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly)	B4GAT1 (R263G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1009820	NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu)	B4GAT1 (F260L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 474251	NM_006876.3(B4GAT1):c.780C>T (p.Phe260=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 515274	NM_006876.3(B4GAT1):c.777C>G (p.Ala259=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1489878	NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr)	B4GAT1 (A259T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 849580	NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)	B4GAT1 (P258A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2870131	NM_006876.3(B4GAT1):c.771G>A (p.Val257=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 573749	NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)	B4GAT1 (T253S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +2 more	GUncertain significance
Select item 1006470	NM_006876.3(B4GAT1):c.748dup (p.Trp250fs)	B4GAT1 (W250fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2641989	NM_006876.3(B4GAT1):c.720G>C (p.Leu240=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048676	NM_006876.3(B4GAT1):c.717C>G (p.Gly239=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 705023	NM_006876.3(B4GAT1):c.717C>A (p.Gly239=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 585484	NM_006876.3(B4GAT1):c.704G>A (p.Gly235Glu)	B4GAT1 (G235E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 852491	NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)	B4GAT1 (S233R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1443578	NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu)	B4GAT1 (M230L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 580290	NM_006876.3(B4GAT1):c.688A>G (p.Met230Val)	B4GAT1 (M230V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1057113	NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn)	B4GAT1 (D227N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2966095	NM_006876.3(B4GAT1):c.678C>A (p.Ile226=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2167253	NM_006876.3(B4GAT1):c.675G>A (p.Val225=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1397777	NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr)	B4GAT1 (A223T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 541277	NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys)	B4GAT1 (Y222C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2071186	NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro)	B4GAT1 (A216P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2751771	NM_006876.3(B4GAT1):c.630C>T (p.Asn210=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2439464	NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)	B4GAT1 (N204K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1573906	NM_006876.3(B4GAT1):c.603G>C (p.Leu201=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign

<< First< Prev

Page of 2