ClinVar for Gene (Select 10103) - 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 3216727	NM_017739.4(POMGNT1):c.1839A>T (p.Arg613Ser)	POMGNT1, TSPAN1 (R613S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216726	NM_017739.4(POMGNT1):c.1613A>G (p.Lys538Arg)	POMGNT1, TSPAN1 (K395R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183794	NM_005727.4(TSPAN1):c.565A>G (p.Lys189Glu)	TSPAN1 (K189E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183793	NM_005727.4(TSPAN1):c.197T>C (p.Val66Ala)	TSPAN1 (V66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183792	NM_005727.4(TSPAN1):c.166G>A (p.Val56Met)	TSPAN1 (V56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033701	NM_017739.4(POMGNT1):c.*302A>G	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	POMGNT1-related disorder	GLikely benign
Select item 3028798	NM_017739.4(POMGNT1):c.499G>A (p.Val167Ile)	POMGNT1, TSPAN1 (V145I +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028780	NM_017739.4(POMGNT1):c.812A>G (p.Lys271Arg)	POMGNT1, TSPAN1 (K128R +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028725	NM_017739.4(POMGNT1):c.1733T>G (p.Phe578Cys)	POMGNT1, TSPAN1 (F435C +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028718	NM_017739.4(POMGNT1):c.1748A>G (p.Lys583Arg)	POMGNT1, TSPAN1 (K440R +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028713	NM_017739.4(POMGNT1):c.*295G>A	POMGNT1, TSPAN1 (G634D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028708	NM_017739.4(POMGNT1):c.*551A>G	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely benign
Select item 2954555	NM_017739.4(POMGNT1):c.420+17G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954403	NM_017739.4(POMGNT1):c.1152+13G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954283	NM_017739.4(POMGNT1):c.615C>T (p.Gly205=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954122	NM_017739.4(POMGNT1):c.653-5G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953956	NM_017739.4(POMGNT1):c.1895+9C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953869	NM_017739.4(POMGNT1):c.951-9G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953461	NM_017739.4(POMGNT1):c.1227C>T (p.Ser409=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953139	NM_017739.4(POMGNT1):c.1095T>C (p.Asn365=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953071	NM_017739.4(POMGNT1):c.1212-8T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2952979	NM_017739.4(POMGNT1):c.1026+12T>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2952848	NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)	POMGNT1, TSPAN1 (P148S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2952659	NM_017739.4(POMGNT1):c.1111-16C>T	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2952571	NM_017739.4(POMGNT1):c.546C>T (p.Ser182=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2952127	NM_017739.4(POMGNT1):c.1059G>A (p.Leu353=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2952070	NM_017739.4(POMGNT1):c.751+18T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2951286	NM_017739.4(POMGNT1):c.535-4C>T	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2951248	NM_017739.4(POMGNT1):c.1285-13_1285-12del	TSPAN1, POMGNT1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2951115	NM_017739.4(POMGNT1):c.355-6G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950947	NM_017739.4(POMGNT1):c.1895+19C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950896	NM_017739.4(POMGNT1):c.1812G>A (p.Val604=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950710	NM_017739.4(POMGNT1):c.653-7C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950694	NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)	POMGNT1, TSPAN1 (Y315* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2950517	NM_017739.4(POMGNT1):c.1605-6_1605-5del	POMGNT1, TSPAN1	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950418	NM_017739.4(POMGNT1):c.1786-11A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950235	NM_017739.4(POMGNT1):c.1539+19G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950090	NM_017739.4(POMGNT1):c.1153-20A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2949318	NM_017739.4(POMGNT1):c.1110+5T>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 2949284	NM_017739.4(POMGNT1):c.1188G>C (p.Leu396=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2948971	NM_017739.4(POMGNT1):c.653-20T>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2948667	NM_017739.4(POMGNT1):c.1539+17del	POMGNT1, TSPAN1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2948415	NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)	POMGNT1, TSPAN1 (D100fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GPathogenic
Select item 2948324	NM_017739.4(POMGNT1):c.421-12A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2948020	NM_017739.4(POMGNT1):c.1539+15G>A	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2947773	NM_017739.4(POMGNT1):c.1191C>T (p.Asp397=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2947752	NM_017739.4(POMGNT1):c.1663C>T (p.Leu555=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2947522	NM_017739.4(POMGNT1):c.1153-18G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2947427	NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)	POMGNT1, TSPAN1 (V576fs +2 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2947397	NM_017739.4(POMGNT1):c.459A>G (p.Ser153=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946842	NM_017739.4(POMGNT1):c.421-14A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946830	NM_017739.4(POMGNT1):c.357G>A (p.Val119=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946666	NM_017739.4(POMGNT1):c.1896-5C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946188	NM_017739.4(POMGNT1):c.951-15C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946167	NM_017739.4(POMGNT1):c.1212-16A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2945956	NM_017739.4(POMGNT1):c.1026+19dup	POMGNT1, TSPAN1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GBenign
Select item 2945910	NM_017739.4(POMGNT1):c.796C>A (p.Arg266=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2945791	NM_017739.4(POMGNT1):c.1926T>A (p.Ile642=)	POMGNT1, TSPAN1 (F634I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2945329	NM_017739.4(POMGNT1):c.1977G>A (p.Gln659=)	POMGNT1, TSPAN1 (D651N)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2945297	NM_017739.4(POMGNT1):c.1153-4_1153-1del	POMGNT1, TSPAN1	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 2945147	NM_017739.4(POMGNT1):c.1374C>T (p.Tyr458=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2944609	NM_017739.4(POMGNT1):c.981G>A (p.Gly327=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2944238	NM_017739.4(POMGNT1):c.950+19T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2944071	NM_017739.4(POMGNT1):c.643C>A (p.Arg215=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2943999	NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)	POMGNT1, TSPAN1 (N538fs +2 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2943823	NM_017739.4(POMGNT1):c.1731C>T (p.Ala577=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2943770	NM_017739.4(POMGNT1):c.1027-6C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2943663	NM_017739.4(POMGNT1):c.1047A>G (p.Ala349=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2943533	NM_017739.4(POMGNT1):c.421-8_421-7del	POMGNT1, TSPAN1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2943187	NM_017739.4(POMGNT1):c.1110+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 2943132	NM_017739.4(POMGNT1):c.1785+20A>G	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2942708	NM_017739.4(POMGNT1):c.1540-5T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2942574	NM_017739.4(POMGNT1):c.771A>G (p.Ala257=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2942500	NM_017739.4(POMGNT1):c.1345C>T (p.Leu449=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2942167	NM_017739.4(POMGNT1):c.951-8C>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2942048	NM_017739.4(POMGNT1):c.426del (p.His142fs)	POMGNT1, TSPAN1 (H120fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2941807	NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)	POMGNT1, TSPAN1 (L179fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2941379	NM_017739.4(POMGNT1):c.936C>T (p.Pro312=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2941302	NM_017739.4(POMGNT1):c.1284+15C>T	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2941041	NM_017739.4(POMGNT1):c.1413+17G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2941037	NM_017739.4(POMGNT1):c.1111-11C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2940553	NM_017739.4(POMGNT1):c.751+9A>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2940400	NM_017739.4(POMGNT1):c.1211+17G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2939439	NM_017739.4(POMGNT1):c.1296C>T (p.His432=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2939436	NM_017739.4(POMGNT1):c.1284+11A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2939285	NM_017739.4(POMGNT1):c.534+17T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
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 2938497	NM_017739.4(POMGNT1):c.420+17G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2938380	NM_017739.4(POMGNT1):c.1332G>A (p.Glu444=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2938140	NM_017739.4(POMGNT1):c.420+8T>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2938074	NM_017739.4(POMGNT1):c.1111-1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely pathogenic
Select item 2937984	NM_017739.4(POMGNT1):c.1786-4C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2937977	NM_017739.4(POMGNT1):c.420+19G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2937871	NM_017739.4(POMGNT1):c.1786-14C>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2937722	NM_017739.4(POMGNT1):c.699del (p.Trp234fs)	POMGNT1, TSPAN1 (W234fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GPathogenic

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