"PreventionGenetics, part of Exact Sciences"[submitter] AND "TSPAN1"[g - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 873654	NM_017739.4(POMGNT1):c.*34G>A	POMGNT1, TSPAN1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
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)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 167525	NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	POMGNT1-related disorder +3 more	GConflicting classifications of pathogenicity
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 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)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 502236	NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GConflicting classifications of pathogenicity
Select item 2632961	NM_017739.4(POMGNT1):c.1566dup (p.Asn523fs)	POMGNT1, TSPAN1 (N380fs +2 more)	Duplication (frameshift variant)	POMGNT1-related disorder	GLikely pathogenic
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 471402	NM_017739.4(POMGNT1):c.1509C>T (p.Ile503=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
Select item 4000	NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	POMGNT1, TSPAN1 (C490Y +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +7 more	GPathogenic/Likely pathogenic
Select item 704793	NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	POMGNT1-related disorder +4 more	GLikely benign
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 1969664	NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)	POMGNT1, TSPAN1 (G407E +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GConflicting classifications of pathogenicity
Select item 290485	NM_017739.4(POMGNT1):c.1284+9G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130004	NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 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 1066260	NM_017739.4(POMGNT1):c.1110+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	POMGNT1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 538739	NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
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 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 1448410	NM_017739.4(POMGNT1):c.879A>C (p.Pro293=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 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)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
Select item 373719	NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)	POMGNT1, TSPAN1 (S233F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +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)	Retinitis pigmentosa 76 +7 more	GBenign
Select item 198571	NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 513343	NM_017739.4(POMGNT1):c.535-7C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 260875	NM_017739.4(POMGNT1):c.534+40C>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 198222	NM_017739.4(POMGNT1):c.421-7C>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GConflicting classifications of pathogenicity
Select item 771039	NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GConflicting classifications of pathogenicity
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: 33