C0457133[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56595	NM_017739.4(POMGNT1):c.1896-1G>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 56593	NM_017739.4(POMGNT1):c.1895+1G>T	TSPAN1, POMGNT1	Single nucleotide variant (intron variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 56592	NM_017739.4(POMGNT1):c.1895+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy +4 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 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 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 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 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 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 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 281057	NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	POMGNT1, TSPAN1 (V504I +2 more)	Single nucleotide variant (missense variant)	not specified +5 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 56580	NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	POMGNT1, TSPAN1 (G448R +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 162586	NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	POMGNT1, TSPAN1 (T433M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GBenign/Likely benign
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 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 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 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 56608	NM_017739.4(POMGNT1):c.879+5G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	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 162588	NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	POMGNT1, TSPAN1 (S280N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +7 more	GConflicting classifications of pathogenicity
Select item 561091	NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)	POMGNT1, TSPAN1 (E251D +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +3 more	GUncertain significance
Select item 56606	NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)	POMGNT1, TSPAN1 (E223K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GConflicting classifications of pathogenicity
Select item 642934	NM_017739.4(POMGNT1):c.652+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic/Likely 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 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 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 +5 more	GPathogenic/Likely pathogenic
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 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 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 956310	NM_017739.4(POMGNT1):c.120+2T>A	POMGNT1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GLikely pathogenic

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Items: 45