"Ambry Genetics"[submitter] AND "POMT1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1446532	NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg)	POMT1 (S18R)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 3216740	NM_001077365.2(POMT1):c.100C>T (p.Leu34Phe)	POMT1 (L34F)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2231313	NM_001077365.2(POMT1):c.141T>G (p.Tyr47Ter)	POMT1 (Y47*)	Single nucleotide variant (nonsense +3 more)	Inborn genetic diseases	GLikely pathogenic
Select item 502200	NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	POMT1 (P66L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3216743	NM_001077365.2(POMT1):c.211A>G (p.Met71Val)	POMT1 (M71V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1443758	NM_001077365.2(POMT1):c.499G>A (p.Val167Met)	POMT1 (V113M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 285812	NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)	POMT1 (A196T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 501991	NM_001077365.2(POMT1):c.629C>T (p.Thr210Met)	POMT1 (T210M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2229059	NM_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)	POMT1 (Y181* +4 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2535575	NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)	POMT1 (T113S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 288930	NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser)	POMT1 (N233S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 586371	NM_001077365.2(POMT1):c.699+14T>A	POMT1 (V238D +3 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 1971255	NM_001077365.2(POMT1):c.699+49A>T	POMT1 (M98L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1698626	NM_001077365.2(POMT1):c.699+68T>C	POMT1 (V202A)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GLikely pathogenic
Select item 436376	NM_001077365.2(POMT1):c.803G>A (p.Arg268His)	POMT1 (R290H +8 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GUncertain significance
Select item 2270711	NM_001077365.2(POMT1):c.814C>T (p.His272Tyr)	POMT1 (H120Y +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 283451	NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)	POMT1 (R312W +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 436378	NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser)	POMT1 (T314S +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GUncertain significance
Select item 497676	NM_001077365.2(POMT1):c.928G>A (p.Val310Ile)	POMT1 (V332I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 282700	NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)	POMT1 (D346N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2600733	NM_001077365.2(POMT1):c.1001G>A (p.Arg334Gln)	POMT1 (R182Q +9 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 859872	NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)	POMT1 (P346S +9 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GUncertain significance
Select item 3308903	NM_001077365.2(POMT1):c.1040T>C (p.Phe347Ser)	POMT1 (F195S +9 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 843052	NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)	POMT1 (N234S +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2549851	NM_001077365.2(POMT1):c.1100G>A (p.Ser367Asn)	POMT1 (S237N +9 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
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 1034728	NM_001077365.2(POMT1):c.1125C>G (p.His375Gln)	POMT1 (H345Q +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1040150	NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu)	POMT1 (G224E +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
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 575771	NM_001077365.2(POMT1):c.1163G>A (p.Arg388His)	POMT1 (R410H +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 2254784	NM_001077365.2(POMT1):c.1168C>A (p.Leu390Met)	POMT1 (L13M +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 872615	NM_001077365.2(POMT1):c.1196del (p.Leu399fs)	POMT1 (L304fs +9 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2228099	NM_001077365.2(POMT1):c.1306T>A (p.Trp436Arg)	POMT1 (W382R +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 597449	NM_001077365.2(POMT1):c.1381C>T (p.Leu461Phe)	POMT1 (L483F +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1426737	NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile)	POMT1 (V355I +9 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 856405	NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)	POMT1 (Y328C +9 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GUncertain significance
Select item 972029	NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg)	POMT1 (G330R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2232624	NM_001077365.2(POMT1):c.1496A>G (p.Gln499Arg)	POMT1 (Q369R +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2273002	NM_001077365.2(POMT1):c.1504C>T (p.Arg502Trp)	POMT1 (R125W +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 286006	NM_001077365.2(POMT1):c.1529C>T (p.Ala510Val)	POMT1 (A532V +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3216742	NM_001077365.2(POMT1):c.1553T>G (p.Leu518Arg)	POMT1 (L141R +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 852488	NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)	POMT1 (S387L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2221629	NM_001077365.2(POMT1):c.1687C>T (p.Pro563Ser)	POMT1 (P411S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 260143	NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)	POMT1 (V598A +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1377587	NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu)	POMT1 (S450L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 283065	NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)	POMT1 (R621Q +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 288003	NM_001077365.2(POMT1):c.1838G>A (p.Arg613His)	POMT1 (R635H +10 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GUncertain significance
Select item 2039569	NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)	POMT1 (S522R +11 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 3216744	NM_001077365.2(POMT1):c.2056T>G (p.Ser686Ala)	POMT1 (S613A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 211945	NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)	POMT1 (A709T +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 568812	NM_001077365.2(POMT1):c.2084G>A (p.Arg695His)	POMT1 (R717H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3255	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1 (D606fs +10 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +10 more	GPathogenic
Select item 935152	NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu)	POMT1 (S553L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2287454	NM_001077365.2(POMT1):c.2164A>G (p.Ile722Val)	POMT1 (I649V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 211946	NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)	POMT1 (R745* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GUncertain significance

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Items: 56