"Athena Diagnostics Inc"[submitter] AND "POMT1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130013	NM_001077365.2(POMT1):c.78G>A (p.Gly26=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign/Likely benign
Select item 586368	NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu)	POMT1 (F60L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	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 538726	NM_001077365.2(POMT1):c.426C>T (p.Ile142=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GConflicting classifications of pathogenicity
Select item 586370	NM_001077365.2(POMT1):c.539+3A>C	POMT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 448114	NM_001077365.2(POMT1):c.574_575del (p.Leu192fs)	POMT1 (L162fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 285812	NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)	POMT1 (A196T +4 more)	Single nucleotide variant (missense variant +1 more)	POMT1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 365275	NM_001077365.2(POMT1):c.697_699del (p.Asn233del)	POMT1 (N233del +4 more)	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +6 more	GConflicting classifications of pathogenicity
Select item 586371	NM_001077365.2(POMT1):c.699+14T>A	POMT1 (V238D +3 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +4 more	GUncertain significance
Select item 95466	NM_001077365.2(POMT1):c.699+52C>T	POMT1 (Q197* +3 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +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)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 805236	NM_001077365.2(POMT1):c.699+67del	POMT1 (V202fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 448115	NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)	POMT1 (V283I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 913172	NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)	POMT1 (D241N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 286908	NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	POMT1 (S305R +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GConflicting classifications of pathogenicity
Select item 471384	NM_001077365.2(POMT1):c.876= (p.Thr292=)	POMT1	Single nucleotide variant (no sequence alteration +1 more)	Walker-Warburg congenital muscular dystrophy +3 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)	Walker-Warburg congenital muscular dystrophy +5 more	GBenign/Likely benign
Select item 211944	NM_001077365.2(POMT1):c.986+9A>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 471371	NM_001077365.2(POMT1):c.1047= (p.Asp349=)	POMT1	Single nucleotide variant (no sequence alteration +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GBenign
Select item 805232	NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr)	POMT1 (I325T +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 286030	NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu)	POMT1 (V395L +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 130005	NM_001077365.2(POMT1):c.1125C>T (p.His375=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign/Likely benign
Select item 281283	NM_001077365.2(POMT1):c.1149C>T (p.His383=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 285835	NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)	POMT1 (G406S +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 586366	NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp)	POMT1 (A419D +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GUncertain significance
Select item 95455	NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)	POMT1 (D433E +9 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 130006	NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)	POMT1	Single nucleotide variant (non-coding transcript variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
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 805233	NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr)	POMT1 (A357T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 289144	NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met)	POMT1 (T506M +9 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +4 more	GUncertain significance
Select item 130007	NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign/Likely benign
Select item 448111	NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val)	POMT1 (A517V +9 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GUncertain significance
Select item 95459	NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	POMT1 (R522K +9 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +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)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign/Likely benign
Select item 498220	NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)	POMT1 (A555V +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GConflicting classifications of pathogenicity
Select item 805234	NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro)	POMT1 (L404P +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 586367	NM_001077365.2(POMT1):c.1617G>A (p.Ser539=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 130008	NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 166900	NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign/Likely benign
Select item 498350	NM_001077365.2(POMT1):c.1698+10C>A	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 586369	NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val)	POMT1 (I599V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 373970	NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)	POMT1 (R620Q +10 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +8 more	GUncertain significance
Select item 130010	NM_001077365.2(POMT1):c.1826-7C>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +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 448112	NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr)	POMT1 (A632T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 130011	NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)	POMT1 (A641V +10 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign/Likely benign
Select item 284058	NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	FAM157B-related condition +5 more	GBenign/Likely benign
Select item 3250	NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	POMT1 (A669T +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic/Likely pathogenic
Select item 260145	NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 954786	NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His)	POMT1 (Y532H +10 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GUncertain significance
Select item 260147	NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)	POMT1 (A709V +10 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign/Likely benign
Select item 805235	NM_001077365.2(POMT1):c.2068G>A (p.Val690Met)	POMT1 (V538M +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 95462	NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 448113	NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val)	POMT1 (A733V +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GUncertain significance
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 condition +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)	POMT1-related condition +5 more	GConflicting classifications of pathogenicity

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Items: 58