"GeneDx"[submitter] AND "TSPAN1"[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1281508	NM_005727.4(TSPAN1):c.-142+2012A>G	TSPAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704770	NM_017739.4(POMGNT1):c.*502C>T	TSPAN1, POMGNT1 (T703I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 297532	NM_017739.4(POMGNT1):c.*451C>T	TSPAN1, POMGNT1 (A716V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876536	NM_017739.4(POMGNT1):c.*221G>A	POMGNT1, TSPAN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1318491	NM_017739.4(POMGNT1):c.1961C>T (p.Pro654Leu)	POMGNT1, TSPAN1 (P511L +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1320927	NM_017739.4(POMGNT1):c.1948G>A (p.Glu650Lys)	POMGNT1, TSPAN1 (E507K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289586	NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln)	POMGNT1, TSPAN1 (G636A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 257665	NM_017739.4(POMGNT1):c.1895+30A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 56593	NM_017739.4(POMGNT1):c.1895+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	POMGNT1-Related Disorders +8 more	GPathogenic/Likely pathogenic
Select item 280928	NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)	POMGNT1, TSPAN1 (S632* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452605	NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr)	POMGNT1, TSPAN1 (N619Y +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GUncertain significance
Select item 2430710	NM_017739.4(POMGNT1):c.1826G>C (p.Arg609Pro)	TSPAN1, POMGNT1 (R466P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 56589	NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	TSPAN1, POMGNT1 (R605H +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more	GPathogenic/Likely pathogenic
Select item 2430730	NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GConflicting classifications of pathogenicity
Select item 509422	NM_017739.4(POMGNT1):c.1786-17C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
Select item 1235825	NM_017739.4(POMGNT1):c.1786-118A>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260872	NM_017739.4(POMGNT1):c.1785+46C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1206927	NM_017739.4(POMGNT1):c.1785+40C>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260871	NM_017739.4(POMGNT1):c.1785+31C>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3997	NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	POMGNT1, TSPAN1 (D556N +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +7 more	GConflicting classifications of pathogenicity
Select item 1193877	NM_017739.4(POMGNT1):c.1650-41T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295793	NM_017739.4(POMGNT1):c.1650-127dup	POMGNT1, TSPAN1	Duplication (intron variant)	not provided	GBenign
Select item 1251285	NM_017739.4(POMGNT1):c.1650-109del	POMGNT1, TSPAN1	Deletion (intron variant)	not provided	GBenign
Select item 1205762	NM_017739.4(POMGNT1):c.1650-196G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667977	NM_017739.4(POMGNT1):c.1650-212G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215960	NM_017739.4(POMGNT1):c.1605-62G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390678	NM_017739.4(POMGNT1):c.1569C>T (p.Asn523=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 384150	NM_017739.4(POMGNT1):c.1560C>T (p.His520=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
Select item 162587	NM_017739.4(POMGNT1):c.1540-16C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GBenign
Select item 680716	NM_017739.4(POMGNT1):c.1539+319G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185750	NM_017739.4(POMGNT1):c.1539+218G>A	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667976	NM_017739.4(POMGNT1):c.1539+215T>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667975	NM_017739.4(POMGNT1):c.1539+119A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216240	NM_017739.4(POMGNT1):c.1539+69G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +10 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)	Congenital Muscular Dystrophy, alpha-dystroglycan related +5 more	GConflicting classifications of pathogenicity
Select item 1341631	NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	POMGNT1, TSPAN1 (R354* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy +5 more	GConflicting classifications of pathogenicity
Select item 285360	NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 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)	POMGNT1-related condition +7 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)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
Select item 167527	NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly)	POMGNT1, TSPAN1 (R488G +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +4 more	GUncertain significance
Select item 288113	NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)	POMGNT1, TSPAN1 (R485H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1200851	NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)	POMGNT1, TSPAN1 (R342C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GConflicting classifications of pathogenicity
Select item 682315	NM_017739.4(POMGNT1):c.1414-11A>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1204949	NM_017739.4(POMGNT1):c.1414-38G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 56580	NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	POMGNT1, TSPAN1 (G448R +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +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)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 162586	NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	TSPAN1, POMGNT1 (T433M +2 more)	Single nucleotide variant (missense variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +5 more	GBenign/Likely benign
Select item 512059	NM_017739.4(POMGNT1):c.1284+8G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 130004	NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GBenign/Likely benign
Select item 390875	NM_017739.4(POMGNT1):c.1212-4T>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 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 1223405	NM_017739.4(POMGNT1):c.1211+44A>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390299	NM_017739.4(POMGNT1):c.1173T>C (p.Val391=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 211937	NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser)	POMGNT1, TSPAN1 (N381S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 260870	NM_017739.4(POMGNT1):c.1111-23C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 type B6 +6 more	GConflicting classifications of pathogenicity
Select item 260869	NM_017739.4(POMGNT1):c.1027-44A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 285192	NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	POMGNT1, TSPAN1 (I337T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 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 284940	NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
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 1341594	NM_017739.4(POMGNT1):c.935C>T (p.Pro312Leu)	POMGNT1, TSPAN1 (P169L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3993	NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	POMGNT1, TSPAN1 (R311Q +2 more)	Single nucleotide variant (missense variant)	not provided +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 260876	NM_017739.4(POMGNT1):c.880-39G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 510961	NM_017739.4(POMGNT1):c.861C>T (p.Ile287=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 162588	NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	POMGNT1, TSPAN1 (S280N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 2444826	NM_017739.4(POMGNT1):c.763C>T (p.His255Tyr)	POMGNT1, TSPAN1 (H112Y +2 more)	Single nucleotide variant (missense variant)	not provided	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 373719	NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)	POMGNT1, TSPAN1 (S233F +2 more)	Single nucleotide variant (missense variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GConflicting classifications of pathogenicity
Select item 95761	NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +7 more	GBenign
Select item 515562	NM_017739.4(POMGNT1):c.652+19A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 290446	NM_017739.4(POMGNT1):c.652+6G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GConflicting classifications of pathogenicity
Select item 1329692	NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln)	POMGNT1, TSPAN1 (R193Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 56604	NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	POMGNT1, TSPAN1 (R215* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more	GPathogenic
Select item 265399	NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more	GPathogenic
Select item 514863	NM_017739.4(POMGNT1):c.624C>T (p.Asp208=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1318184	NM_017739.4(POMGNT1):c.621G>T (p.Arg207Ser)	POMGNT1, TSPAN1 (R185S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392590	NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser)	POMGNT1, TSPAN1 (A189S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198571	NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	POMGNT1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 513343	NM_017739.4(POMGNT1):c.535-7C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	POMGNT1-related condition +3 more	GLikely benign
Select item 507034	NM_017739.4(POMGNT1):c.535-14C>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 387862	NM_017739.4(POMGNT1):c.534+15C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 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 392733	NM_017739.4(POMGNT1):c.507C>T (p.Pro169=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 283314	NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GConflicting classifications of pathogenicity
Select item 507502	NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GConflicting classifications of pathogenicity
Select item 198222	NM_017739.4(POMGNT1):c.421-7C>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	POMGNT1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 420433	NM_017739.4(POMGNT1):c.421-13_421-10dup	POMGNT1, TSPAN1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
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 brain and eye anomalies), type A3 +6 more	GConflicting classifications of pathogenicity
Select item 423754	NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)	POMGNT1, TSPAN1 (V119M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 76 +5 more	GUncertain significance
Select item 260874	NM_017739.4(POMGNT1):c.355-27C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign

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Items: 95