"PreventionGenetics, part of Exact Sciences"[submitter] AND "POMT1"[ge - ClinVar

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042695	NM_001077365.2(POMT1):c.-28C>T	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	POMT1-related disorder	GLikely benign
Select item 260137	NM_001077365.2(POMT1):c.-20T>C	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 260138	NM_001077365.2(POMT1):c.-6T>G	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 195272	NM_001077365.2(POMT1):c.42C>T (p.Asp14=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 130013	NM_001077365.2(POMT1):c.78G>A (p.Gly26=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	not provided +4 more	GBenign/Likely benign
Select item 3048283	NM_001077365.2(POMT1):c.120G>C (p.Val40=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	POMT1-related disorder	GLikely benign
Select item 95456	NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	POMT1 (E44D)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +6 more	GConflicting classifications of pathogenicity
Select item 705635	NM_001077365.2(POMT1):c.198G>A (p.Pro66=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	POMT1-related disorder +3 more	GLikely benign
Select item 2628680	NM_001077365.2(POMT1):c.427+2_427+3insTT	POMT1	Insertion (splice donor variant +1 more)	POMT1-related disorder	GUncertain significance
Select item 260148	NM_001077365.2(POMT1):c.427+12G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GLikely benign
Select item 260149	NM_001077365.2(POMT1):c.428-21T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign
Select item 2927869	NM_001077365.2(POMT1):c.428-7G>A	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +3 more	GLikely benign
Select item 2636357	NM_007171.4(POMT1):c.429_430del	POMT1	Microsatellite (splice acceptor variant)	POMT1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 281263	NM_001077365.2(POMT1):c.568C>T (p.Leu190=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 285812	NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)	POMT1 (A196T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 77582	NM_001077365.2(POMT1):c.639C>T (p.Leu213=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +3 more	GLikely benign
Select item 365275	NM_001077365.2(POMT1):c.697_699del (p.Asn233del)	POMT1 (N233del +4 more)	Deletion (inframe_deletion +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 95466	NM_001077365.2(POMT1):c.699+52C>T	POMT1 (Q197* +3 more)	Single nucleotide variant (nonsense +2 more)	not specified +4 more	GBenign/Likely benign
Select item 95467	NM_001077365.2(POMT1):c.699+53=	POMT1 (R251Q)	Single nucleotide variant (no sequence alteration +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign
Select item 260150	NM_001077365.2(POMT1):c.699+85C>T	POMT1 (P208S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GLikely benign
Select item 260151	NM_001077365.2(POMT1):c.700-48A>G	POMT1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 95469	NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)	POMT1 (P273L +8 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GConflicting classifications of pathogenicity
Select item 2418745	NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)	POMT1 (L102R +8 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 1302210	NM_001077365.2(POMT1):c.833G>C (p.Ser278Thr)	POMT1 (Q272H +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 385971	NM_001077365.2(POMT1):c.855+6T>C	POMT1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 260152	NM_001077365.2(POMT1):c.856-49T>G	POMT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 95470	NM_001077365.2(POMT1):c.891G>A (p.Leu297=)	POMT1 (G292R)	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign/Likely benign
Select item 95471	NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)	POMT1 (V327I +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign/Likely benign
Select item 211944	NM_001077365.2(POMT1):c.986+9A>G	POMT1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 260139	NM_001077365.2(POMT1):c.986+49G>A	POMT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 471372	NM_001077365.2(POMT1):c.1068A>G (p.Val356=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	POMT1-related disorder +3 more	GLikely benign
Select item 95451	NM_001077365.2(POMT1):c.1082+16G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign
Select item 130005	NM_001077365.2(POMT1):c.1125C>T (p.His375=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 285055	NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)	POMT1 (G398R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 281283	NM_001077365.2(POMT1):c.1149C>T (p.His383=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	POMT1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 95455	NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)	POMT1 (D433E +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign
Select item 1116785	NM_001077365.2(POMT1):c.1251C>T (p.Pro417=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	POMT1-related disorder +3 more	GLikely benign
Select item 130006	NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign
Select item 218515	NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)	POMT1 (V457I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 538722	NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)	POMT1 (R466C +9 more)	Single nucleotide variant (missense variant +1 more)	POMT1-related disorder +4 more	GUncertain significance
Select item 772046	NM_001077365.2(POMT1):c.1365+10C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GLikely benign
Select item 95457	NM_001077365.2(POMT1):c.1365+15C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 95458	NM_001077365.2(POMT1):c.1416C>T (p.Val472=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GConflicting classifications of pathogenicity
Select item 379163	NM_001077365.2(POMT1):c.1443C>T (p.His481=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 130007	NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 95459	NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	POMT1 (R522K +9 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GConflicting classifications of pathogenicity
Select item 162591	NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)	POMT1 (S537R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GBenign/Likely benign
Select item 260140	NM_001077365.2(POMT1):c.1585-47G>T	POMT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 167529	NM_001077365.2(POMT1):c.1585-14C>T	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +3 more	GBenign/Likely benign
Select item 130008	NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 166900	NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 289344	NM_001077365.2(POMT1):c.1698+6C>T	POMT1	Single nucleotide variant (intron variant)	POMT1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 260141	NM_001077365.2(POMT1):c.1698+11G>C	POMT1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 260142	NM_001077365.2(POMT1):c.1698+48C>G	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +4 more	GBenign
Select item 260143	NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)	POMT1 (V598A +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 499196	NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 162592	NM_001077365.2(POMT1):c.1825+19del	POMT1	Deletion (intron variant)	Walker-Warburg congenital muscular dystrophy +3 more	GBenign
Select item 260144	NM_001077365.2(POMT1):c.1826-40G>A	POMT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 130010	NM_001077365.2(POMT1):c.1826-7C>A	POMT1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 130009	NM_001077365.2(POMT1):c.1826-6C>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign/Likely benign
Select item 130011	NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)	POMT1 (A641V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 706170	NM_001077365.2(POMT1):c.1866C>T (p.Ala622=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	POMT1-related disorder +3 more	GLikely benign
Select item 284058	NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign/Likely benign
Select item 3052882	NM_001077365.2(POMT1):c.1944C>T (p.Leu648=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	POMT1-related disorder	GLikely benign
Select item 3041337	NM_001077365.2(POMT1):c.1947C>T (p.Thr649=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	POMT1-related disorder	GLikely benign
Select item 260145	NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 95460	NM_001077365.2(POMT1):c.2003+13C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign
Select item 260146	NM_001077365.2(POMT1):c.2004-20C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GBenign/Likely benign
Select item 260147	NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)	POMT1 (A709V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 593660	NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	POMT1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3255	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1 (D606fs +10 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy, type C +10 more	GPathogenic
Select item 95462	NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95463	NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)	POMT1 (R735C +10 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign/Likely benign
Select item 130012	NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)	POMT1 (R745Q +10 more)	Single nucleotide variant (missense variant +1 more)	POMT1-related disorder +5 more	GBenign/Likely benign
Select item 211947	NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 260136	NM_001077365.2(POMT1):c.*41T>C	POMT1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GBenign

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Items: 76