ClinVar for MedGen (Select 815372) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 173

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2904740	NM_006876.3(B4GAT1):c.79C>T (p.Leu27=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2893778	NM_006876.3(B4GAT1):c.324C>T (p.His108=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2882347	NM_006876.3(B4GAT1):c.582G>A (p.Gln194=)	B4GAT1	Single nucleotide variant (synonymous 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 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 2786994	NM_006876.3(B4GAT1):c.69G>T (p.Ala23=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 2709722	NM_006876.3(B4GAT1):c.480C>G (p.Pro160=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 2570802	NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 2425650	NC_000011.9:g.(?_66099747)_(66291373_?)dup	B4GAT1, BBS1 +7 more	Duplication	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 2197430	NM_006876.3(B4GAT1):c.342G>A (p.Glu114=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 2183145	NM_006876.3(B4GAT1):c.576G>A (p.Val192=)	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 2156309	NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys)	B4GAT1 (R191K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2144335	NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp)	B4GAT1 (Y29D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2143059	NM_006876.3(B4GAT1):c.600G>A (p.Ala200=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 2126890	NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met)	B4GAT1 (R83M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2122804	NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met)	B4GAT1 (L27M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2104925	NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser)	B4GAT1 (P195S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2093538	NM_006876.3(B4GAT1):c.237C>T (p.Tyr79=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 2089703	NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro)	B4GAT1 (L30P)	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 2062438	NM_006876.3(B4GAT1):c.240C>T (p.Arg80=)	B4GAT1	Single nucleotide variant (synonymous 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 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 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 1984789	NM_006876.3(B4GAT1):c.330G>A (p.Ser110=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	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 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 1957075	NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser)	B4GAT1 (I197S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1956366	NM_006876.3(B4GAT1):c.471C>T (p.Leu157=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 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 1936858	NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr)	B4GAT1 (A98T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
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 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 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 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 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 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 1607917	NM_006876.3(B4GAT1):c.186G>A (p.Gln62=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1588791	NM_006876.3(B4GAT1):c.420C>T (p.Tyr140=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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
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 1538465	NM_006876.3(B4GAT1):c.36C>T (p.Tyr12=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 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 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 1493869	NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile)	B4GAT1 (V81I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
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 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 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 1448687	NM_006876.3(B4GAT1):c.409G>A (p.Val137Met)	B4GAT1 (V137M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 1446826	NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp)	B4GAT1 (G196W)	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 1442247	NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His)	B4GAT1 (Y45H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
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 1430919	NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile)	B4GAT1 (V185I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1427981	NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr)	B4GAT1 (M1T)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1422241	NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr)	B4GAT1 (A166T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	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 1407695	NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val)	B4GAT1 (D169V)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 1369250	NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn)	B4GAT1 (D91N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357657	NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu)	B4GAT1 (F48L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1350891	NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala)	B4GAT1 (P160A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1346739	NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly)	B4GAT1 (D43G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 1307190	NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro)	B4GAT1 (L113P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1304862	NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile)	B4GAT1 (M149I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
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 1195055	NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys)	B4GAT1 (Q26K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 1156284	NM_006876.3(B4GAT1):c.601C>T (p.Leu201=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1156025	NM_006876.3(B4GAT1):c.363C>G (p.Ser121=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1150623	NM_006876.3(B4GAT1):c.204C>T (p.Ala68=)	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 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 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 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 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 1128609	NM_006876.3(B4GAT1):c.162G>A (p.Arg54=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
Select item 1118061	NM_006876.3(B4GAT1):c.156C>T (p.Ser52=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign
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 1112822	NM_006876.3(B4GAT1):c.192C>G (p.Arg64=)	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 1103450	NM_006876.3(B4GAT1):c.108G>A (p.Leu36=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	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 1100367	NM_006876.3(B4GAT1):c.312C>T (p.Asp104=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GLikely benign

<< First< Prev

Page of 2