Related gene-specific medical variations for Gene (Select 10585) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064841	NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)	POMT1 (E40* +2 more)	Single nucleotide variant (nonsense +4 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2689813	NM_001077365.2(POMT1):c.728G>A (p.Arg243Gln)	POMT1 (R113Q +8 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2689812	NM_001077365.2(POMT1):c.889C>G (p.Leu297Val)	POMT1 (L145V +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2678023	NM_001077365.2(POMT1):c.1758del (p.Ile587fs)	POMT1 (I210fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678022	NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)	POMT1 (Q231fs +11 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678021	NM_001077365.2(POMT1):c.699+67dup	POMT1 (V202fs)	Duplication (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678020	NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)	POMT1 (C244fs +11 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678019	NM_001077365.2(POMT1):c.389del (p.His130fs)	POMT1 (H100fs +3 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678018	NM_001077365.2(POMT1):c.2140del (p.Trp714fs)	POMT1 (W337fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678017	NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)	POMT1 (H284fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678016	NM_001077365.2(POMT1):c.1550del (p.Asn517fs)	POMT1 (N140fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678014	NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)	POMT1 (W217* +11 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678013	NM_001077365.2(POMT1):c.389_407del (p.His130fs)	POMT1 (H100fs +3 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678012	NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)	POMT1	Deletion (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 2678009	NM_001077365.2(POMT1):c.103dup (p.Thr35fs)	POMT1 (T35fs)	Duplication (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678008	NM_001077365.2(POMT1):c.699+14_699+17dup	POMT1 (Q122fs +3 more)	Duplication (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678007	NM_001077365.2(POMT1):c.230-2A>G	POMT1	Single nucleotide variant (splice acceptor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678005	NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)	POMT1 (W201* +11 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678003	NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)	POMT1 (W106* +4 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678002	NM_001077365.2(POMT1):c.583del (p.Val195fs)	POMT1 (V141fs +4 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678001	NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)	POMT1 (Y116fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 2678000	NM_001077365.2(POMT1):c.1272+2dup	POMT1	Duplication (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677999	NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)	POMT1 (F107del +9 more)	Microsatellite (inframe deletion +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677998	NM_001077365.2(POMT1):c.1145del (p.Val382fs)	POMT1 (V230fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677997	NM_001077365.2(POMT1):c.1436del (p.Gly479fs)	POMT1 (G102fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677994	NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)	POMT1 (Y36fs)	Insertion (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677992	NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)	POMT1 (K118fs +4 more)	Indel (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2664866	NM_001077365.2(POMT1):c.512T>G (p.Leu171Arg)	POMT1 (L117R +4 more)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2435198	NM_001077365.2(POMT1):c.449C>T (p.Ser150Leu)	POMT1 (S120L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2435197	NM_001077365.2(POMT1):c.1669A>G (p.Ile557Val)	POMT1 (I180V +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435196	NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)	POMT1 (M25L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2435195	NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)	POMT1 (W183R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435194	NM_001077365.2(POMT1):c.733G>A (p.Val245Met)	POMT1 (S239N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435193	NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)	POMT1 (A103S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2435192	NM_001077365.2(POMT1):c.2080C>G (p.Leu694Val)	POMT1 (L317V +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435191	NM_001077365.2(POMT1):c.1535T>C (p.Val512Ala)	POMT1 (V135A +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2435190	NM_001077365.2(POMT1):c.1835T>A (p.Leu612Gln)	POMT1 (L235Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435189	NM_001077365.2(POMT1):c.1760T>C (p.Ile587Thr)	POMT1 (I210T +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435188	NM_001077365.2(POMT1):c.1343T>G (p.Val448Gly)	POMT1 (V296G +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435187	NM_001077365.2(POMT1):c.653C>G (p.Ala218Gly)	POMT1 (A101G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435186	NM_001077365.2(POMT1):c.827T>C (p.Met276Thr)	POMT1 (M124T +8 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2435185	NM_001077365.2(POMT1):c.901_909del (p.Phe301_Ser303del)	POMT1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2435184	NM_001077365.2(POMT1):c.47A>G (p.Asn16Ser)	POMT1 (N16S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2435183	NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)	POMT1 (G24W)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2435181	NM_001077365.2(POMT1):c.1441C>T (p.His481Tyr)	POMT1 (H104Y +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1809728	NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)	POMT1 (P13del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1809727	NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)	POMT1 (T281fs +9 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1806943	NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)	POMT1 (I287F +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1324954	NM_001077365.2(POMT1):c.692T>A (p.Leu231Ter)	POMT1 (L114* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1324952	NM_001077365.2(POMT1):c.1058G>A (p.Trp353Ter)	POMT1 (W201* +9 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 1323488	NM_001077365.2(POMT1):c.1158del (p.Thr387fs)	POMT1 (T235fs +9 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1252077	NM_001077365.2(POMT1):c.1175+3del	POMT1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 931876	NM_001077365.2(POMT1):c.700-17C>T	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GUncertain significance
Select item 591857	NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys)	POMT1 (W376C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 591236	NM_001077365.2(POMT1):c.880G>T (p.Gly294Cys)	POMT1 (G316C +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 547054	NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer)	POMT1	Indel (nonsense +2 more)	not provided	GLikely pathogenic
Select item 377129	NM_001077365.2(POMT1):c.2004-1_2005del	POMT1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 260140	NM_001077365.2(POMT1):c.1585-47G>T	POMT1	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Items: 58