C0457133[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 554543	NM_017739.4(POMGNT1):c.*513del	TSPAN1, POMGNT1 (L737fs)	Deletion (frameshift variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 550470	NM_017739.4(POMGNT1):c.*500G>A	POMGNT1, TSPAN1 (W732*)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
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 555405	NM_017739.4(POMGNT1):c.404_405dup	POMGNT1, TSPAN1 (A701fs)	Duplication (frameshift variant +1 more)	Muscle eye brain disease	GUncertain significance
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 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 554892	NM_017739.4(POMGNT1):c.*5TCC[1]	POMGNT1, TSPAN1 (P656del)	Microsatellite (inframe_deletion +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 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 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 554192	NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT	POMGNT1, TSPAN1	Insertion (intron variant)	Muscle eye brain disease	GLikely benign
Select item 557018	NM_017739.4(POMGNT1):c.1895+1G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GPathogenic/Likely pathogenic
Select item 56591	NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	POMGNT1, TSPAN1 (V483fs +2 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 76 +4 more	GPathogenic/Likely pathogenic
Select item 551020	NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro)	POMGNT1, TSPAN1 (L622P +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +2 more	GUncertain significance
Select item 552466	NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)	POMGNT1, TSPAN1 (K618* +2 more)	Single nucleotide variant (nonsense)	Muscle eye brain disease +2 more	GPathogenic/Likely pathogenic
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 56589	NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	POMGNT1, TSPAN1 (R605H +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +5 more	GPathogenic/Likely pathogenic
Select item 3998	NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	POMGNT1, TSPAN1 (R605P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 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 371525	NM_017739.4(POMGNT1):c.1786-2A>G	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 56587	NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	POMGNT1, TSPAN1 (W590* +2 more)	Single nucleotide variant (nonsense)	Muscle eye brain disease +5 more	GPathogenic/Likely pathogenic
Select item 370697	NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)	POMGNT1, TSPAN1 (M581fs +2 more)	Deletion (frameshift variant)	Muscle eye brain disease +1 more	GLikely pathogenic
Select item 56586	NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	POMGNT1, TSPAN1 (R580* +2 more)	Single nucleotide variant (nonsense)	Muscle eye brain disease +4 more	GPathogenic/Likely pathogenic
Select item 371077	NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)	POMGNT1, TSPAN1 (F423fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +1 more	GLikely pathogenic
Select item 370969	NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)	POMGNT1, TSPAN1 (S543fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GPathogenic/Likely pathogenic
Select item 3997	NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	POMGNT1, TSPAN1 (D556N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +7 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 3988	NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	POMGNT1, TSPAN1 (S550N +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +1 more	GLikely pathogenic
Select item 554879	NM_017739.4(POMGNT1):c.1605-1G>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GLikely pathogenic
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 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 371629	NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)	POMGNT1, TSPAN1 (K521fs +2 more)	Deletion (frameshift variant)	Muscle eye brain disease	GLikely pathogenic
Select item 370546	NM_017739.4(POMGNT1):c.1538_1539+2del	POMGNT1, TSPAN1	Deletion (splice donor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 550664	NM_017739.4(POMGNT1):c.1539+1del	POMGNT1, TSPAN1	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GLikely pathogenic
Select item 56583	NM_017739.4(POMGNT1):c.1539+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease +2 more	GPathogenic
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	not provided +10 more	GPathogenic
Select item 553478	NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	TSPAN1, POMGNT1 (G505S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GConflicting classifications of pathogenicity
Select item 4000	NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	POMGNT1, TSPAN1 (C490Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GPathogenic/Likely pathogenic
Select item 422459	NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)	POMGNT1, TSPAN1 (R488Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 56581	NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)	POMGNT1, TSPAN1 (W308fs +2 more)	Microsatellite (frameshift variant)	Muscle eye brain disease +3 more	GPathogenic
Select item 3992	NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	POMGNT1, TSPAN1 (R442C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 56578	NM_017739.4(POMGNT1):c.1285-2A>G	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy +4 more	GPathogenic/Likely pathogenic
Select item 370335	NM_017739.4(POMGNT1):c.1284+2_1284+19del	POMGNT1, TSPAN1	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GLikely pathogenic
Select item 56577	NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)	TSPAN1, POMGNT1 (W425S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy +1 more	GConflicting classifications of pathogenicity
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
Select item 558053	NM_017739.4(POMGNT1):c.1152+2T>C	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 371562	NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)	POMGNT1, TSPAN1 (Y229fs +2 more)	Deletion (frameshift variant)	Muscle eye brain disease	GLikely pathogenic
Select item 550363	NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)	POMGNT1, TSPAN1 (Q370fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GPathogenic/Likely pathogenic
Select item 370499	NM_017739.4(POMGNT1):c.1027-2_1027-1del	POMGNT1, TSPAN1	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GConflicting classifications of pathogenicity
Select item 189099	NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)	POMGNT1, TSPAN1 (D195* +2 more)	Duplication (nonsense)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 371038	NM_017739.4(POMGNT1):c.987del (p.Pro330fs)	POMGNT1, TSPAN1 (P308fs +2 more)	Deletion (frameshift variant)	Muscle eye brain disease	GLikely pathogenic
Select item 56611	NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	POMGNT1, TSPAN1 (V185fs +2 more)	Duplication (frameshift variant)	Muscle eye brain disease +1 more	GLikely pathogenic
Select item 3993	NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	POMGNT1, TSPAN1 (R311Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 56610	NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	POMGNT1, TSPAN1 (R311* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic
Select item 552342	NM_017739.4(POMGNT1):c.880-1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease +4 more	GPathogenic/Likely pathogenic
Select item 370870	NM_017739.4(POMGNT1):c.880-2A>G	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 370211	NM_017739.4(POMGNT1):c.879+2T>C	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 549950	NM_017739.4(POMGNT1):c.879+1G>C	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscle eye brain disease	GLikely pathogenic
Select item 371407	NM_017739.4(POMGNT1):c.875del (p.Asp292fs)	POMGNT1, TSPAN1 (D149fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +1 more	GLikely pathogenic
Select item 558572	NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)	POMGNT1, TSPAN1 (R265P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 56575	NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	POMGNT1, TSPAN1 (R265H +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +3 more	GConflicting classifications of pathogenicity
Select item 551232	NM_017739.4(POMGNT1):c.653-2A>C	TSPAN1, POMGNT1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease +2 more	GLikely pathogenic
Select item 3999	NM_017739.4(POMGNT1):c.652+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GPathogenic/Likely pathogenic
Select item 56604	NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	POMGNT1, TSPAN1 (R215* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GPathogenic
Select item 265399	NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +6 more	GPathogenic
Select item 550035	NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)	POMGNT1, TSPAN1	Duplication (inframe_insertion)	Muscle eye brain disease +1 more	GUncertain significance
Select item 371543	NM_017739.4(POMGNT1):c.478del (p.Met160fs)	POMGNT1, TSPAN1 (M160fs +2 more)	Deletion (frameshift 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)	Muscle eye brain disease +3 more	GPathogenic
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 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 +6 more	GConflicting classifications of pathogenicity
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 552921	NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	POMGNT1	Deletion (nonsense +1 more)	Muscle eye brain disease	GLikely pathogenic
Select item 371286	NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)	POMGNT1 (R63fs +1 more)	Insertion (frameshift variant +1 more)	Muscle eye brain disease +3 more	GPathogenic/Likely pathogenic
Select item 370926	NM_017739.4(POMGNT1):c.121-2A>G	POMGNT1	Single nucleotide variant (splice acceptor variant +1 more)	Muscle eye brain disease	GLikely pathogenic
Select item 370426	NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)	POMGNT1	Indel (nonsense)	Muscle eye brain disease	GLikely pathogenic

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Items: 76