ClinVar for MedGen (Select 105341) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 231

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1104009	NM_017739.4(POMGNT1):c.405C>T (p.Val135=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 1079868	NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1051361	NM_017739.4(POMGNT1):c.421-3C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
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 1041133	NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg)	POMGNT1, TSPAN1 (G305R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1039668	NM_017739.4(POMGNT1):c.1111-10C>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1006599	NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp)	POMGNT1, TSPAN1 (G183D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1006193	NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln)	POMGNT1 (R41Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1005472	NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe)	POMGNT1, TSPAN1 (S186F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1002680	NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro)	POMGNT1, TSPAN1 (A167P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 989709	NM_017739.4(POMGNT1):c.121-6C>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
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 989707	NM_017739.4(POMGNT1):c.1111-7C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 989706	NM_017739.4(POMGNT1):c.1413+6T>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 989705	NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 989704	NM_017739.4(POMGNT1):c.*2A>T	POMGNT1, TSPAN1 (R653S)	Single nucleotide variant (3 prime UTR variant +1 more)	Muscle eye brain disease	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 969691	NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu)	POMGNT1, TSPAN1 (M623L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 968866	NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 968226	NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln)	POMGNT1 (R62Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 964120	NM_017739.4(POMGNT1):c.959G>A (p.Arg320His)	POMGNT1, TSPAN1 (R177H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 962773	NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala)	POMGNT1 (T39A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 957708	NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile)	POMGNT1, TSPAN1 (L472I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
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 +1 more	GLikely pathogenic
Select item 954453	NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala)	POMGNT1, TSPAN1 (T188A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 948206	NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr)	POMGNT1 (P8T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +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 933901	NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp)	POMGNT1, TSPAN1 (R473W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 873655	NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)	POMGNT1, TSPAN1 (P487R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 861593	NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met)	POMGNT1, TSPAN1 (V368M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 856846	NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=)	POMGNT1, TSPAN1 (L629V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 848867	NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser)	POMGNT1, TSPAN1 (A451S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 848264	NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu)	POMGNT1, TSPAN1 (G309E +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 847443	NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn)	TSPAN1, POMGNT1 (K322N +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 842013	NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu)	POMGNT1, TSPAN1 (P241L +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GUncertain significance
Select item 834279	NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn)	POMGNT1, TSPAN1 (D236N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 801486	NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)	TSPAN1, POMGNT1 (S280F +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease	GLikely pathogenic
Select item 783092	NM_017739.4(POMGNT1):c.1605-9C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 779762	NM_017739.4(POMGNT1):c.492C>T (p.Leu164=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 776095	NM_017739.4(POMGNT1):c.1605-8C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 774047	NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GLikely benign
Select item 771039	NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GConflicting classifications of pathogenicity
Select item 766664	NM_017739.4(POMGNT1):c.421-9C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 718981	NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 706814	NM_017739.4(POMGNT1):c.1111-9C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GBenign/Likely benign
Select item 706247	NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)	POMGNT1, TSPAN1 (R123W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
Select item 704793	NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GLikely benign
Select item 698185	NM_017739.4(POMGNT1):c.747A>G (p.Ala249=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
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 662078	NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)	POMGNT1 (D3Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 661000	NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp)	POMGNT1 (R40W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
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 658465	NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu)	POMGNT1, TSPAN1 (K499E +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GUncertain significance
Select item 653068	NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn)	POMGNT1, TSPAN1 (H535N +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 653032	NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp)	POMGNT1 (N32D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 652677	NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu)	POMGNT1, TSPAN1 (P615L +2 more)	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 652269	NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys)	POMGNT1, TSPAN1 (R147C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
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 647385	NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr)	POMGNT1, TSPAN1 (S543T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 644042	NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu)	POMGNT1, TSPAN1 (V378L +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 643942	NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile)	POMGNT1, TSPAN1 (V483I +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
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 597426	NM_017739.4(POMGNT1):c.354+3C>T	POMGNT1	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 596428	NM_017739.4(POMGNT1):c.427G>A (p.Val143Met)	POMGNT1, TSPAN1 (V143M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 596021	NM_017739.4(POMGNT1):c.751+4G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 594483	NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile)	POMGNT1 (V53I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 586373	NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe)	POMGNT1, TSPAN1 (I642F +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GUncertain significance
Select item 578613	NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro)	POMGNT1 (R62P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 572551	NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)	POMGNT1, TSPAN1 (F566S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 569569	NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met)	TSPAN1, POMGNT1 (T140M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 561091	NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)	POMGNT1, TSPAN1 (E251D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 558572	NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)	POMGNT1, TSPAN1 (R265P +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease	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)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +6 more	GConflicting classifications of pathogenicity
Select item 558144	NM_017739.4(POMGNT1):c.335_361del	POMGNT1, TSPAN1	Deletion (inframe_deletion +1 more)	Muscle eye brain disease	GUncertain significance
Select item 558053	NM_017739.4(POMGNT1):c.1152+2T>C	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +1 more	GLikely pathogenic
Select item 557754	NM_017739.4(POMGNT1):c.30_33del	POMGNT1, TSPAN1	Deletion (3 prime UTR variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 557715	NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)	POMGNT1, TSPAN1	Duplication (inframe_insertion)	Muscle eye brain disease	GUncertain significance
Select item 557018	NM_017739.4(POMGNT1):c.1895+1G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Muscle eye brain disease +2 more	GPathogenic/Likely pathogenic
Select item 556807	NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)	POMGNT1, TSPAN1 (K492fs +3 more)	Deletion (frameshift variant)	Muscle eye brain disease	GLikely pathogenic
Select item 555405	NM_017739.4(POMGNT1):c.404_405dup	POMGNT1, TSPAN1 (A701fs)	Duplication (frameshift variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 555139	NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del)	TSPAN1, POMGNT1 (L614del +2 more)	Deletion (inframe_deletion)	Muscle eye brain disease	GUncertain significance
Select item 554892	NM_017739.4(POMGNT1):c.*5TCC[1]	POMGNT1, TSPAN1 (P656del)	Microsatellite (inframe_deletion +1 more)	Muscle eye brain disease	GUncertain significance
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 554758	NM_017739.4(POMGNT1):c.*499G>A	POMGNT1, TSPAN1 (W732*)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 554700	NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)	POMGNT1, TSPAN1 (K649N +3 more)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 554543	NM_017739.4(POMGNT1):c.*513del	TSPAN1, POMGNT1 (L737fs)	Deletion (frameshift variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 554192	NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT	POMGNT1, TSPAN1	Insertion (intron variant)	Muscle eye brain disease	GLikely benign
Select item 553478	NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	POMGNT1, TSPAN1 (G505S +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +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 553241	NM_017739.4(POMGNT1):c.*531C>T	POMGNT1, TSPAN1 (Q743*)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 553006	NM_017739.4(POMGNT1):c.1604+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease +2 more	GLikely pathogenic
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 552466	NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)	POMGNT1, TSPAN1 (K618* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GPathogenic/Likely pathogenic
Select item 552405	NM_017739.4(POMGNT1):c.1786-1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease +2 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 551232	NM_017739.4(POMGNT1):c.653-2A>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease +2 more	GLikely 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 551020	NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro)	POMGNT1, TSPAN1 (L622P +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GUncertain significance
Select item 550917	NM_017739.4(POMGNT1):c.1604+2T>C	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 550784	NM_017739.4(POMGNT1):c.1212-1G>C	TSPAN1, POMGNT1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease	GLikely pathogenic

<< First< Prev

Page of 3