ClinVar for MedGen (Select 462869) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240184	NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)	POMGNT1, TSPAN1 (Q214* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240183	NM_017739.4(POMGNT1):c.625_626insAA (p.Thr209fs)	POMGNT1, TSPAN1 (T187fs +2 more)	Insertion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240182	NM_017739.4(POMGNT1):c.660del (p.Phe221fs)	POMGNT1, TSPAN1 (F199fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240181	NM_017739.4(POMGNT1):c.1461_1462dup (p.Arg488fs)	POMGNT1, TSPAN1 (R345fs +2 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240180	NM_017739.4(POMGNT1):c.776_777del (p.Thr259fs)	POMGNT1, TSPAN1 (T116fs +2 more)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2939228	NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)	POMGNT1, TSPAN1 (W469* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GPathogenic/Likely pathogenic
Select item 2677991	NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)	POMGNT1	Deletion (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677990	NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)	POMGNT1, TSPAN1 (Q341* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677989	NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)	POMGNT1, TSPAN1 (E145* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677988	NM_017739.4(POMGNT1):c.1650-2A>G	TSPAN1, POMGNT1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677987	NM_017739.4(POMGNT1):c.1287dup	POMGNT1, TSPAN1	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
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 2677985	NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)	POMGNT1, TSPAN1 (A223fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677984	NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)	POMGNT1, TSPAN1 (I267fs +2 more)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677983	NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)	POMGNT1, TSPAN1 (Q386* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677982	NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)	POMGNT1, TSPAN1 (C419fs +2 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677980	NM_017739.4(POMGNT1):c.1431del (p.Met477fs)	POMGNT1, TSPAN1 (M334fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
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 2677978	NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)	POMGNT1, TSPAN1 (W323* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677977	NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)	POMGNT1, TSPAN1 (W323* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677976	NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)	POMGNT1, TSPAN1 (G192* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677975	NM_017739.4(POMGNT1):c.584del (p.Ser195fs)	POMGNT1, TSPAN1 (S173fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677974	NM_017739.4(POMGNT1):c.1414-2A>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
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 2677972	NM_017739.4(POMGNT1):c.1605-2_1606del	POMGNT1, TSPAN1	Deletion (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677971	NM_017739.4(POMGNT1):c.599del (p.Ala200fs)	POMGNT1, TSPAN1 (A178fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677970	NM_017739.4(POMGNT1):c.1414-1G>T	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2677969	NM_017739.4(POMGNT1):c.879+2T>G	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 2158255	NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)	POMGNT1, TSPAN1 (K394* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GPathogenic
Select item 2112726	NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)	POMGNT1, TSPAN1 (W308* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GPathogenic/Likely pathogenic
Select item 1988629	NM_017739.4(POMGNT1):c.390del (p.Ile131fs)	POMGNT1, TSPAN1 (I109fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GPathogenic/Likely pathogenic
Select item 1802204	NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)	POMGNT1, TSPAN1 (C419* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GLikely pathogenic
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 1726555	NM_017739.4(POMGNT1):c.94del (p.Gln32fs)	POMGNT1 (Q32fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1726418	NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)	POMGNT1, TSPAN1 (S10* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
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 1725652	NM_017739.4(POMGNT1):c.732del (p.Pro245fs)	POMGNT1, TSPAN1 (P102fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
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 1725447	NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)	TSPAN1, POMGNT1 (K205fs +2 more)	Indel (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725374	NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)	POMGNT1, TSPAN1 (K376fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725260	NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)	POMGNT1, TSPAN1 (E292fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725210	NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)	POMGNT1 (R36fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725128	NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)	POMGNT1, TSPAN1 (I194fs +2 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1725088	NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)	POMGNT1, TSPAN1 (K230* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724968	NM_017739.4(POMGNT1):c.137del (p.Phe46fs)	POMGNT1 (F24fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724900	NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)	POMGNT1, TSPAN1 (W212* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724880	NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)	POMGNT1, TSPAN1 (P339fs +2 more)	Indel (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724476	NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)	TSPAN1, POMGNT1 (R172fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1724200	NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)	POMGNT1 (E48fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
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 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 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 1526402	NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val)	POMGNT1, TSPAN1 (G286V +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1525403	NM_017739.4(POMGNT1):c.880-1G>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy +3 more	GPathogenic/Likely pathogenic
Select item 1512572	NM_017739.4(POMGNT1):c.1152+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GConflicting classifications of pathogenicity
Select item 1473137	NM_017739.4(POMGNT1):c.752-2A>G	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GConflicting classifications of pathogenicity
Select item 1455052	NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)	POMGNT1, TSPAN1 (F565fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GPathogenic/Likely pathogenic
Select item 1444828	NM_017739.4(POMGNT1):c.652+5C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 1341631	NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	TSPAN1, POMGNT1 (R354* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1336273	NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)	POMGNT1 (R41P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 1210461	NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)	POMGNT1, TSPAN1 (K230Q +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
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 1209779	NM_017739.4(POMGNT1):c.*457C>T	POMGNT1, TSPAN1 (A718V)	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209778	NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)	POMGNT1, TSPAN1 (R124C +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209777	NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)	POMGNT1, TSPAN1 (P418S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209699	NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	POMGNT1, TSPAN1 (N158S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
Select item 1209698	NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	POMGNT1, TSPAN1 (R122C +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GUncertain significance
Select item 1209697	NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	POMGNT1, TSPAN1 (K219R +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1066260	NM_017739.4(POMGNT1):c.1110+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	POMGNT1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1030590	NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)	POMGNT1, TSPAN1 (G213R +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GUncertain significance
Select item 1030589	NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)	POMGNT1, TSPAN1 (R587Q +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more	GUncertain significance
Select item 997802	NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	POMGNT1, TSPAN1 (R224H +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more	GConflicting classifications of pathogenicity
Select item 989708	NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)	POMGNT1, TSPAN1 (R149Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 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 956310	NM_017739.4(POMGNT1):c.120+2T>A	POMGNT1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely pathogenic
Select item 872288	NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	POMGNT1, TSPAN1 (R299H +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 704793	NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	POMGNT1-related disorder +4 more	GLikely benign
Select item 671038	NM_017739.4(POMGNT1):c.1212-66T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 671037	NM_017739.4(POMGNT1):c.1212-81C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 671035	NM_017739.4(POMGNT1):c.951-52A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 665448	NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	POMGNT1, TSPAN1 (R488* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 658684	NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	POMGNT1, TSPAN1 (T431I +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 648374	NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	POMGNT1, TSPAN1 (R149* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic/Likely pathogenic
Select item 642934	NM_017739.4(POMGNT1):c.652+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GPathogenic/Likely pathogenic
Select item 632108	NM_017739.4(POMGNT1):c.751+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	POMGNT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 620470	NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)	POMGNT1, TSPAN1 (Q331* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GPathogenic/Likely pathogenic
Select item 565327	NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)	POMGNT1, TSPAN1 (P303L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 558512	NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	POMGNT1, TSPAN1 (R129W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GConflicting classifications of pathogenicity
Select item 558053	NM_017739.4(POMGNT1):c.1152+2T>C	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease +2 more	GLikely pathogenic
Select item 554879	NM_017739.4(POMGNT1):c.1605-1G>C	TSPAN1, POMGNT1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GLikely pathogenic
Select item 553478	NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	POMGNT1, TSPAN1 (G505S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GConflicting classifications of pathogenicity
Select item 553347	NM_017739.4(POMGNT1):c.1649+2T>G	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease +3 more	GLikely pathogenic
Select item 552342	NM_017739.4(POMGNT1):c.880-1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more	GPathogenic/Likely pathogenic
Select item 551169	NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)	POMGNT1, TSPAN1 (S153* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GPathogenic
Select item 550917	NM_017739.4(POMGNT1):c.1604+2T>C	TSPAN1, POMGNT1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease +1 more	GPathogenic/Likely pathogenic
Select item 550664	NM_017739.4(POMGNT1):c.1539+1del	POMGNT1, TSPAN1	Deletion (splice donor variant)	Muscle eye brain disease +3 more	GLikely pathogenic
Select item 502236	NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GConflicting classifications of pathogenicity
Select item 450727	NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)	POMGNT1 (R36Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more	GUncertain significance
Select item 436365	NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	POMGNT1, TSPAN1 (R147H +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more	GUncertain significance
Select item 423754	NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)	POMGNT1, TSPAN1 (V119M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GUncertain significance

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