CN239222[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1666065	NM_015164.4(PLEKHM2):c.6G>A (p.Glu2=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 843391	NM_015164.4(PLEKHM2):c.8C>T (p.Pro3Leu)	PLEKHM2 (P3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1423698	NM_015164.4(PLEKHM2):c.14A>T (p.Glu5Val)	PLEKHM2 (E5V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2988941	NM_015164.4(PLEKHM2):c.22G>A (p.Asp8Asn)	PLEKHM2 (D8N)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2153008	NM_015164.4(PLEKHM2):c.25C>G (p.Arg9Gly)	PLEKHM2 (R9G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1540450	NM_015164.4(PLEKHM2):c.30C>T (p.Ile10=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 575122	NM_015164.4(PLEKHM2):c.50C>T (p.Ser17Leu)	PLEKHM2 (S17L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 772520	NM_015164.4(PLEKHM2):c.51G>A (p.Ser17=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1000277	NM_015164.4(PLEKHM2):c.55AAG[1] (p.Lys20del)	PLEKHM2 (K20del)	Microsatellite (inframe_deletion)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2740948	NM_015164.4(PLEKHM2):c.60+14C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1947345	NM_015164.4(PLEKHM2):c.60+18C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2911849	NM_015164.4(PLEKHM2):c.61-19GT[3]	PLEKHM2	Microsatellite (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1564823	NM_015164.4(PLEKHM2):c.61-18T>C	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2969572	NM_015164.4(PLEKHM2):c.61-17G>C	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1934598	NM_015164.4(PLEKHM2):c.61-8dup	PLEKHM2	Duplication (intron variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1665929	NM_015164.4(PLEKHM2):c.61-16T>G	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1554830	NM_015164.4(PLEKHM2):c.61-8del	PLEKHM2	Deletion (intron variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1907581	NM_015164.4(PLEKHM2):c.61-15T>G	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1115052	NM_015164.4(PLEKHM2):c.61-10T>C	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 650193	NC_000001.10:g.(?_16042722)_(16060439_?)dup	PLEKHM2	Duplication	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 478102	NM_015164.4(PLEKHM2):c.61-7_61-6del	PLEKHM2	Deletion (intron variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1165087	NM_015164.4(PLEKHM2):c.61-7del	PLEKHM2	Deletion (intron variant)	Dilated Cardiomyopathy, Recessive +1 more	GBenign
Select item 478103	NM_015164.4(PLEKHM2):c.61-7C>T	PLEKHM2	Single nucleotide variant (intron variant)	PLEKHM2-related condition +1 more	GBenign/Likely benign
Select item 1498643	NM_015164.4(PLEKHM2):c.75T>G (p.Phe25Leu)	PLEKHM2 (F25L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2876433	NM_015164.4(PLEKHM2):c.90T>C (p.Asp30=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2999537	NM_015164.4(PLEKHM2):c.93G>C (p.Glu31Asp)	PLEKHM2 (E31D)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1165088	NM_015164.4(PLEKHM2):c.95T>C (p.Ile32Thr)	PLEKHM2 (I32T)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive +1 more	GBenign
Select item 1496107	NM_015164.4(PLEKHM2):c.98C>T (p.Pro33Leu)	PLEKHM2 (P33L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 956358	NM_015164.4(PLEKHM2):c.98C>G (p.Pro33Arg)	PLEKHM2 (P33R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2915672	NM_015164.4(PLEKHM2):c.101C>T (p.Ala34Val)	PLEKHM2 (A34V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1988343	NM_015164.4(PLEKHM2):c.106C>T (p.Arg36Trp)	PLEKHM2 (R36W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1038041	NM_015164.4(PLEKHM2):c.111C>G (p.Asn37Lys)	PLEKHM2 (N37K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1559629	NM_015164.4(PLEKHM2):c.126A>C (p.Leu42=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 478068	NM_015164.4(PLEKHM2):c.131G>A (p.Arg44His)	PLEKHM2 (R44H)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2742509	NM_015164.4(PLEKHM2):c.133C>T (p.Leu45=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2847777	NM_015164.4(PLEKHM2):c.134T>C (p.Leu45Pro)	PLEKHM2 (L45P)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1055952	NM_015164.4(PLEKHM2):c.139G>A (p.Glu47Lys)	PLEKHM2 (E47K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2803706	NM_015164.4(PLEKHM2):c.142C>A (p.His48Asn)	PLEKHM2 (H48N)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1164937	NM_015164.4(PLEKHM2):c.153C>T (p.His51=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1092070	NM_015164.4(PLEKHM2):c.159G>A (p.Leu53=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1618798	NM_015164.4(PLEKHM2):c.162G>C (p.Leu54=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 478070	NM_015164.4(PLEKHM2):c.162G>A (p.Leu54=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1593091	NM_015164.4(PLEKHM2):c.165C>T (p.Tyr55=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2090716	NM_015164.4(PLEKHM2):c.167+19C>G	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2198363	NM_015164.4(PLEKHM2):c.168-20C>G	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1608109	NM_015164.4(PLEKHM2):c.168-13C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1517068	NM_015164.4(PLEKHM2):c.176A>T (p.Asp59Val)	PLEKHM2 (D59V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2163580	NM_015164.4(PLEKHM2):c.177C>A (p.Asp59Glu)	PLEKHM2 (D59E)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1122287	NM_015164.4(PLEKHM2):c.189C>A (p.Gly63=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 861067	NM_015164.4(PLEKHM2):c.205G>A (p.Val69Met)	PLEKHM2 (V69M)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 544344	NM_015164.4(PLEKHM2):c.217C>T (p.Arg73Trp)	PLEKHM2 (R73W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2042625	NM_015164.4(PLEKHM2):c.218G>A (p.Arg73Gln)	PLEKHM2 (R73Q)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2094505	NM_015164.4(PLEKHM2):c.219_220insCTCTCCGA (p.Arg74fs)	PLEKHM2 (R74fs)	Insertion (frameshift variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1151438	NM_015164.4(PLEKHM2):c.228C>T (p.Ala76=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2097808	NM_015164.4(PLEKHM2):c.240C>A (p.Ile80=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1989516	NM_015164.4(PLEKHM2):c.240C>T (p.Ile80=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2040697	NM_015164.4(PLEKHM2):c.241G>C (p.Glu81Gln)	PLEKHM2 (E81Q)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 863404	NM_015164.4(PLEKHM2):c.241G>A (p.Glu81Lys)	PLEKHM2 (E81K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1373238	NM_015164.4(PLEKHM2):c.248T>C (p.Leu83Pro)	PLEKHM2 (L83P)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1090445	NM_015164.4(PLEKHM2):c.258G>A (p.Val86=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2907263	NM_015164.4(PLEKHM2):c.268C>G (p.Leu90Val)	PLEKHM2 (L90V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1143367	NM_015164.4(PLEKHM2):c.268C>T (p.Leu90=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1060786	NM_015164.4(PLEKHM2):c.274C>T (p.Arg92Cys)	PLEKHM2 (R92C)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2156893	NM_015164.4(PLEKHM2):c.275G>A (p.Arg92His)	PLEKHM2 (R92H)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1612470	NM_015164.4(PLEKHM2):c.277+20C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1549981	NM_015164.4(PLEKHM2):c.278-17C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1541701	NM_015164.4(PLEKHM2):c.278-13C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2742401	NM_015164.4(PLEKHM2):c.280C>T (p.Arg94Cys)	PLEKHM2 (R94C)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1588517	NM_015164.4(PLEKHM2):c.282T>A (p.Arg94=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1719429	NM_015164.4(PLEKHM2):c.284C>G (p.Ala95Gly)	PLEKHM2 (A95G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1165089	NM_015164.4(PLEKHM2):c.291G>A (p.Leu97=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive +1 more	GBenign
Select item 1004043	NM_015164.4(PLEKHM2):c.291_292inv (p.Tyr98His)	PLEKHM2 (Y98H)	Inversion (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2165597	NM_015164.4(PLEKHM2):c.301C>A (p.Leu101Ile)	PLEKHM2 (L101I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1157151	NM_015164.4(PLEKHM2):c.306C>T (p.Asn102=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2721759	NM_015164.4(PLEKHM2):c.316T>C (p.Leu106=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1116121	NM_015164.4(PLEKHM2):c.333G>A (p.Arg111=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1419293	NM_015164.4(PLEKHM2):c.346A>G (p.Asn116Asp)	PLEKHM2 (N116D)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 478098	NM_015164.4(PLEKHM2):c.357G>C (p.Leu119=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 961073	NM_015164.4(PLEKHM2):c.366G>C (p.Lys122Asn)	PLEKHM2 (K122N)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 779995	NM_015164.4(PLEKHM2):c.372C>T (p.Tyr124=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1429780	NM_015164.4(PLEKHM2):c.373G>A (p.Val125Ile)	PLEKHM2 (V125I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1655229	NM_015164.4(PLEKHM2):c.377+7G>A	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1540264	NM_015164.4(PLEKHM2):c.377+12G>A	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2063256	NM_015164.4(PLEKHM2):c.377+15C>T	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1544725	NM_015164.4(PLEKHM2):c.377+19C>G	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1086163	NM_015164.4(PLEKHM2):c.378-4G>A	PLEKHM2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1436390	NM_015164.4(PLEKHM2):c.383C>G (p.Ala128Gly)	PLEKHM2 (A128G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1653206	NM_015164.4(PLEKHM2):c.388G>A (p.Val130Ile)	PLEKHM2 (V130I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1661180	NM_015164.4(PLEKHM2):c.390C>T (p.Val130=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2709771	NM_015164.4(PLEKHM2):c.394A>C (p.Ser132Arg)	PLEKHM2 (S132R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1168556	NM_015164.4(PLEKHM2):c.399C>T (p.His133=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 580923	NM_015164.4(PLEKHM2):c.400G>A (p.Asp134Asn)	PLEKHM2 (D134N)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2881863	NM_015164.4(PLEKHM2):c.406C>G (p.Leu136Val)	PLEKHM2 (L136V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1108567	NM_015164.4(PLEKHM2):c.411G>A (p.Thr137=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 1424209	NM_015164.4(PLEKHM2):c.416T>C (p.Phe139Ser)	PLEKHM2 (F139S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 1150055	NM_015164.4(PLEKHM2):c.423C>T (p.Thr141=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 2121048	NM_015164.4(PLEKHM2):c.424T>C (p.Leu142=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign
Select item 478099	NM_015164.4(PLEKHM2):c.432C>T (p.Ser144=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GBenign
Select item 1439343	NM_015164.4(PLEKHM2):c.433G>A (p.Gly145Arg)	PLEKHM2 (G145R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 743852	NM_015164.4(PLEKHM2):c.438A>T (p.Leu146=)	PLEKHM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive	GLikely benign

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