"Revvity Omics, Revvity"[submitter] AND "PKD2L2-DT"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30407	NM_006790.3(MYOT):c.17G>A (p.Arg6His)	PKD2L2-DT, MYOT (R6H)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5839	NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)	MYOT, PKD2L2-DT (S39F)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +1 more	GPathogenic/Likely pathogenic
Select item 906249	NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)	MYOT, PKD2L2-DT (T48I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1056349	NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)	MYOT, PKD2L2-DT (R51G)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433985	NM_006790.3(MYOT):c.170del (p.Thr57fs)	MYOT, PKD2L2-DT (T57fs)	Deletion (frameshift variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 5834	NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)	MYOT, PKD2L2-DT (T57I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +1 more	GPathogenic
Select item 5837	NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)	MYOT, PKD2L2-DT (S60F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5836	NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)	MYOT, PKD2L2-DT (S60C)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +1 more	GPathogenic
Select item 664775	NM_006790.3(MYOT):c.182A>C (p.His61Pro)	MYOT, PKD2L2-DT (H61P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2433994	NM_006790.3(MYOT):c.225G>C (p.Gln75His)	MYOT, PKD2L2-DT (Q75H)	Single nucleotide variant (missense variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 950553	NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)	MYOT, PKD2L2-DT (G78S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433992	NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)	MYOT, PKD2L2-DT (A94T)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 351023	NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)	MYOT, PKD2L2-DT (A115S)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +4 more	GConflicting classifications of pathogenicity
Select item 464370	NM_006790.3(MYOT):c.372del (p.Ala125fs)	MYOT, PKD2L2-DT (A125fs +1 more)	Deletion (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433989	NM_006790.3(MYOT):c.392C>T (p.Ala131Val)	MYOT, PKD2L2-DT (A131V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 655808	NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)	MYOT, PKD2L2-DT (A16E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433987	NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)	MYOT, PKD2L2-DT (A137T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1367376	NM_006790.3(MYOT):c.424A>G (p.Ile142Val)	MYOT, PKD2L2-DT (I142V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433982	NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)	MYOT, PKD2L2-DT (T170P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1397935	NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)	MYOT, PKD2L2-DT (Q177E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2433986	NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)	MYOT, PKD2L2-DT (A186S +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433995	NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)	MYOT, PKD2L2-DT (R188K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 1023197	NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)	MYOT, PKD2L2-DT (D19E +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 598376	NM_006790.3(MYOT):c.629C>T (p.Ser210Leu)	MYOT, PKD2L2-DT (S210L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 943798	NM_006790.3(MYOT):c.680_683del (p.Val227fs)	MYOT, PKD2L2-DT (V112fs +2 more)	Deletion (frameshift variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 839777	NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)	MYOT, PKD2L2-DT (S45N +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 1038438	NM_006790.3(MYOT):c.752G>A (p.Arg251His)	MYOT, PKD2L2-DT (R67H +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433993	NM_006790.3(MYOT):c.775A>G (p.Met259Val)	MYOT, PKD2L2-DT (M144V +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2156349	NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)	MYOT, PKD2L2-DT (T105R +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 521779	NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)	MYOT, PKD2L2-DT (T333I +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +2 more	GUncertain significance
Select item 1053848	NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)	MYOT, PKD2L2-DT (D155N +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433988	NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)	MYOT, PKD2L2-DT (E178K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 595401	NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser)	MYOT, PKD2L2-DT (P376S +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 657395	NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)	PKD2L2-DT, MYOT (E203K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 167318	NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)	MYOT, PKD2L2-DT (D286E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2433983	NM_006790.3(MYOT):c.1234G>C (p.Asp412His)	MYOT, PKD2L2-DT (D228H +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 288959	NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)	MYOT, PKD2L2-DT (A429G +2 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 2152659	NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)	MYOT, PKD2L2-DT (T317S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 502240	NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg)	MYOT, PKD2L2-DT (C434R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 583005	NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)	MYOT, PKD2L2-DT (R455Q +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +3 more	GConflicting classifications of pathogenicity
Select item 351029	NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)	MYOT, PKD2L2-DT (N467K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +4 more	GUncertain significance
Select item 283264	NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)	MYOT, PKD2L2-DT (L471F +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 847336	NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)	MYOT, PKD2L2-DT (V473A +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 167319	NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)	MYOT, PKD2L2-DT (E296G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 44