ClinVar for MedGen (Select 934671) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412677	NM_017739.4(POMGNT1):c.1489C>G (p.Arg497Gly)	POMGNT1, TSPAN1 (R475G +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76	GUncertain significance
Select item 2412676	NM_017739.4(POMGNT1):c.1502T>C (p.Phe501Ser)	POMGNT1, TSPAN1 (F501S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1336273	NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)	POMGNT1 (R41P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 1210461	NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)	POMGNT1, TSPAN1 (K230Q +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209829	NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)	POMGNT1 (Q54K +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209779	NM_017739.4(POMGNT1):c.*457C>T	POMGNT1, TSPAN1 (A718V)	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209778	NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)	POMGNT1, TSPAN1 (R124C +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209777	NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)	POMGNT1, TSPAN1 (P418S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1209699	NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	POMGNT1, TSPAN1 (N158S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GConflicting classifications of pathogenicity
Select item 1209698	NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	POMGNT1, TSPAN1 (R122C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 1209697	NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	POMGNT1, TSPAN1 (K219R +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 1030589	NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)	POMGNT1, TSPAN1 (R587Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 989708	NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)	POMGNT1, TSPAN1 (R149Q +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 704793	NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 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 671035	NM_017739.4(POMGNT1):c.951-52A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 658684	NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	POMGNT1, TSPAN1 (T431I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 595996	NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp)	POMGNT1, TSPAN1 (R480W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 450727	NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)	POMGNT1 (R36Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +4 more	GUncertain significance
Select item 436365	NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	POMGNT1, TSPAN1 (R147H +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +5 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)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GUncertain significance
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 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 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 291060	NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)	POMGNT1, TSPAN1 (R486G +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 290280	NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	POMGNT1 (R90H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 289590	NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	POMGNT1, TSPAN1 (F643V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GUncertain significance
Select item 285192	NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	POMGNT1, TSPAN1 (I337T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
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 260873	NM_017739.4(POMGNT1):c.235+33T>G	POMGNT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 260869	NM_017739.4(POMGNT1):c.1027-44A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GBenign
Select item 257665	NM_017739.4(POMGNT1):c.1895+30A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 254275	NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg)	POMGNT1, TSPAN1 (L120R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 76	GPathogenic
Select item 254274	NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala)	TSPAN1, POMGNT1 (G502A +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76	GPathogenic
Select item 254272	NM_017739.4(POMGNT1):c.466G>A (p.Glu156Lys)	TSPAN1, POMGNT1 (E156K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76	GPathogenic
Select item 254270	NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)	POMGNT1, TSPAN1 (I287S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 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)	not provided +4 more	GUncertain significance
Select item 167524	NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)	TSPAN1, POMGNT1 (M480V +1 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +6 more	GBenign
Select item 162590	NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)	POMGNT1 (R107S +1 more)	Single nucleotide variant (missense variant +1 more)	Muscle eye brain disease +4 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)	Autosomal recessive limb-girdle muscular dystrophy type 2O +7 more	GConflicting classifications of pathogenicity
Select item 95761	NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +7 more	GBenign
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 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 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)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 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 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy +10 more	GConflicting classifications of pathogenicity
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 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 4000	NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	POMGNT1, TSPAN1 (C490Y +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy +6 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)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 3994	NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	POMGNT1 (R63* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GPathogenic
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

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Items: 56