POMGNT1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2932930	NM_017739.4(POMGNT1):c.354+15G>C	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2924669	NM_017739.4(POMGNT1):c.354+15G>T	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2066423	NM_017739.4(POMGNT1):c.354+15G>A	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2924658	NM_017739.4(POMGNT1):c.354+14G>T	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952649	NM_017739.4(POMGNT1):c.354+8G>A	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 574477	NM_017739.4(POMGNT1):c.354+6T>C	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 597426	NM_017739.4(POMGNT1):c.354+3C>T	POMGNT1	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 371664	NM_017739.4(POMGNT1):c.354+1G>A	POMGNT1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 2948478	NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 2158988	NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 2056349	NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)	POMGNT1 (T118M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 56598	NM_017739.4(POMGNT1):c.351del (p.Thr118fs)	POMGNT1 (T118fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GPathogenic
Select item 1391179	NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala)	POMGNT1 (V114A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2077352	NM_017739.4(POMGNT1):c.333T>C (p.Tyr111=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1726608	NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)	POMGNT1 (Y111* +1 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1350814	NM_017739.4(POMGNT1):c.330A>G (p.Val110=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1404180	NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu)	POMGNT1 (V110L +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 941649	NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu)	POMGNT1 (K87E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 2952864	NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1045797	NM_017739.4(POMGNT1):c.320G>A (p.Arg107His)	POMGNT1 (R107H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 162590	NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)	POMGNT1 (R107S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1676834	NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)	POMGNT1 (S106R +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 384626	NM_017739.4(POMGNT1):c.314C>G (p.Ser105Ter)	POMGNT1 (S105* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1495444	NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro)	POMGNT1 (S105P +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 1493684	NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp)	POMGNT1 (Y104D +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 538748	NM_017739.4(POMGNT1):c.309G>A (p.Val103=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 1725918	NM_017739.4(POMGNT1):c.307del (p.Val103fs)	POMGNT1 (V103fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2412674	NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)	POMGNT1 (E102* +1 more)	Insertion (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy	GPathogenic
Select item 1015759	NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys)	POMGNT1 (E102K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 984973	NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)	POMGNT1 (E102* +1 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic
Select item 95759	NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	POMGNT1 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +7 more	GConflicting classifications of pathogenicity
Select item 706244	NM_017739.4(POMGNT1):c.300C>T (p.Asp100=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1691626	NM_017739.4(POMGNT1):c.299A>T (p.Asp100Val)	POMGNT1 (D100V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2677979	NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)	POMGNT1 (L77P +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1696349	NM_017739.4(POMGNT1):c.293T>A (p.Val98Asp)	POMGNT1 (V76D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1318508	NM_017739.4(POMGNT1):c.290G>A (p.Arg97Gln)	POMGNT1 (R75Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1104070	NM_017739.4(POMGNT1):c.289C>A (p.Arg97=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
Select item 290011	NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp)	POMGNT1 (R97W +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GBenign/Likely benign
Select item 651634	NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)	POMGNT1 (R96Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GUncertain significance
Select item 450326	NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro)	POMGNT1 (R96P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 283338	NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp)	POMGNT1 (R96W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1643323	NM_017739.4(POMGNT1):c.285C>T (p.Pro95=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 956796	NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu)	POMGNT1 (P73L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2435168	NM_017739.4(POMGNT1):c.281G>T (p.Gly94Val)	POMGNT1 (G72V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 297537	NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly)	POMGNT1 (S93G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 1423954	NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp)	POMGNT1 (G92D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2947830	NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 290280	NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	POMGNT1 (R90H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 283329	NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys)	POMGNT1 (R90C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 288596	NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)	POMGNT1 (R89Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2014679	NM_017739.4(POMGNT1):c.121-67_265delinsTAG	POMGNT1	Indel (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 1976643	NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)	POMGNT1 (R67W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 963060	NM_017739.4(POMGNT1):c.121-67_265del	POMGNT1	Deletion (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 1654254	NM_017739.4(POMGNT1):c.264A>G (p.Pro88=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1683691	NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs)	POMGNT1 (P66fs +1 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1399654	NM_017739.4(POMGNT1):c.263del (p.Pro88fs)	POMGNT1 (P66fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GPathogenic/Likely pathogenic
Select item 2008099	NM_017739.4(POMGNT1):c.261C>G (p.Pro87=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1102069	NM_017739.4(POMGNT1):c.261C>T (p.Pro87=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 1410512	NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser)	POMGNT1 (P87S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1146517	NM_017739.4(POMGNT1):c.258G>A (p.Glu86=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 944897	NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln)	POMGNT1 (E64Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1116842	NM_017739.4(POMGNT1):c.255G>A (p.Leu85=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2021571	NM_017739.4(POMGNT1):c.252C>T (p.Arg84=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 471405	NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu)	POMGNT1 (R84L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 451139	NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)	POMGNT1 (R84H +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GConflicting classifications of pathogenicity
Select item 665111	NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys)	POMGNT1 (R62C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 1556387	NM_017739.4(POMGNT1):c.243C>G (p.Ala81=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 1389245	NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu)	POMGNT1 (D57E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2677973	NM_017739.4(POMGNT1):c.236-1_236del	POMGNT1	Deletion (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2031067	NM_017739.4(POMGNT1):c.236-1G>C	POMGNT1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 370425	NM_017739.4(POMGNT1):c.236-1G>T	POMGNT1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GLikely pathogenic
Select item 2180551	NM_017739.4(POMGNT1):c.236-5C>A	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1158642	NM_017739.4(POMGNT1):c.236-6C>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1698329	NM_017739.4(POMGNT1):c.236-7C>G	POMGNT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1083226	NM_017739.4(POMGNT1):c.236-15_236-7del	POMGNT1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2941443	NM_017739.4(POMGNT1):c.236-8C>T	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 95758	NM_017739.4(POMGNT1):c.236-13T>C	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GConflicting classifications of pathogenicity
Select item 2925219	NM_017739.4(POMGNT1):c.236-15T>C	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2937339	NM_017739.4(POMGNT1):c.236-16C>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954367	NM_017739.4(POMGNT1):c.236-17C>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1954782	NM_017739.4(POMGNT1):c.236-17C>A	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2934854	NM_017739.4(POMGNT1):c.236-19G>A	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 260873	NM_017739.4(POMGNT1):c.235+33T>G	POMGNT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1540226	NM_017739.4(POMGNT1):c.235+20G>A	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946937	NM_017739.4(POMGNT1):c.235+18A>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1566063	NM_017739.4(POMGNT1):c.235+11G>A	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1685411	NM_017739.4(POMGNT1):c.235+2T>G	POMGNT1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GLikely pathogenic
Select item 1066614	NM_017739.4(POMGNT1):c.235+2T>C	POMGNT1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely pathogenic
Select item 963635	NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn)	POMGNT1 (D57N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 552921	NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	POMGNT1	Deletion (nonsense +1 more)	Muscle eye brain disease	GLikely pathogenic
Select item 515391	NM_017739.4(POMGNT1):c.234T>C (p.Tyr78=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2308845	NM_017739.4(POMGNT1):c.232T>C (p.Tyr78His)	POMGNT1 (Y78H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435167	NM_017739.4(POMGNT1):c.230A>G (p.Asp77Gly)	POMGNT1 (D55G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1725618	NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)	POMGNT1 (Q54* +1 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1209829	NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)	POMGNT1 (Q54K +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1088903	NM_017739.4(POMGNT1):c.225G>A (p.Glu75=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2677986	NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)	POMGNT1 (E51fs +1 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1368833	NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser)	POMGNT1 (P50S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1132103	NM_017739.4(POMGNT1):c.213C>T (p.Asp71=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1809934	NM_017739.4(POMGNT1):c.212A>G (p.Asp71Gly)	POMGNT1 (D49G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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