"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TSPAN1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56591	NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	POMGNT1, TSPAN1 (V483fs +2 more)	Deletion (frameshift variant +1 more)	Muscle eye brain disease +4 more	GPathogenic/Likely pathogenic
Select item 1030589	NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)	POMGNT1, TSPAN1 (R587Q +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more	GUncertain significance
Select item 56587	NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	POMGNT1, TSPAN1 (W590* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more	GPathogenic/Likely 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 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	POMGNT1-related disorder +10 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)	Retinitis pigmentosa 76 +7 more	GPathogenic/Likely pathogenic
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 291060	NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)	POMGNT1, TSPAN1 (R486G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
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 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 285192	NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	POMGNT1, TSPAN1 (I337T +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +6 more	GConflicting classifications of pathogenicity
Select item 162588	NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	POMGNT1, TSPAN1 (S280N +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +7 more	GConflicting classifications of pathogenicity
Select item 1444828	NM_017739.4(POMGNT1):c.652+5C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
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 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 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