ClinVar for Gene (Select 126807246) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052200	NM_014476.6(PDLIM3):c.331-497T>A	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	PDLIM3-related condition	GLikely benign
Select item 2939938	NM_014476.6(PDLIM3):c.347A>C (p.Glu116Ala)	LOC126807246, PDLIM3 (E116A +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2926413	NM_014476.6(PDLIM3):c.359A>G (p.Asn120Ser)	LOC126807246, PDLIM3 (N41S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2630799	NM_014476.6(PDLIM3):c.331-411C>A	LOC126807246, PDLIM3 (A158E)	Single nucleotide variant (missense variant +1 more)	PDLIM3-related condition	GUncertain significance
Select item 2501731	NM_014476.6(PDLIM3):c.331-513A>G	LOC126807246, PDLIM3 (Q124R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2201691	NM_014476.6(PDLIM3):c.398+12T>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2186926	NM_014476.6(PDLIM3):c.398+12T>C	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2146104	NM_014476.6(PDLIM3):c.331-15G>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2066170	NM_014476.6(PDLIM3):c.386C>T (p.Pro129Leu)	LOC126807246, PDLIM3 (P50L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1736177	NM_014476.6(PDLIM3):c.391C>A (p.Arg131=)	LOC126807246, PDLIM3	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1733591	NM_014476.6(PDLIM3):c.364C>T (p.Arg122Trp)	PDLIM3, LOC126807246 (R43W +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 1660211	NM_014476.6(PDLIM3):c.398+15G>A	PDLIM3, LOC126807246	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1582137	NM_014476.6(PDLIM3):c.398+8G>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1482733	NM_014476.6(PDLIM3):c.398+5T>G	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1367161	NM_014476.6(PDLIM3):c.331G>C (p.Asp111His)	PDLIM3, LOC126807246 (D32H +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 1318119	NM_014476.6(PDLIM3):c.331-73A>G	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317973	NM_014476.6(PDLIM3):c.331-356C>T	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316276	NM_014476.6(PDLIM3):c.398+232C>G	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166799	NM_014476.6(PDLIM3):c.333C>T (p.Asp111=)	PDLIM3, LOC126807246	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy +1 more	GBenign
Select item 1057060	NM_014476.6(PDLIM3):c.344T>A (p.Phe115Tyr)	LOC126807246, PDLIM3 (F115Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1044748	NM_014476.6(PDLIM3):c.346G>C (p.Glu116Gln)	LOC126807246, PDLIM3 (E116Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1005281	NM_014476.6(PDLIM3):c.354G>C (p.Lys118Asn)	LOC126807246, PDLIM3 (K118N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 967683	NM_014476.6(PDLIM3):c.334G>A (p.Gly112Arg)	LOC126807246, PDLIM3 (G112R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 841616	NM_014476.6(PDLIM3):c.388G>A (p.Gly130Ser)	LOC126807246, PDLIM3 (G130S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 835479	NM_014476.6(PDLIM3):c.331-1G>A	LOC126807246, PDLIM3	Single nucleotide variant (splice acceptor variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 691765	NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln)	LOC126807246, PDLIM3 (R122Q +1 more)	Single nucleotide variant (missense variant +1 more)	Restrictive cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 675377	NM_014476.6(PDLIM3):c.331-143G>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672916	NM_014476.6(PDLIM3):c.331-179A>C	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584088	NC_000004.11:g.(?_186423428)_(186456608_?)dup	LOC126807246, PDLIM3	Duplication	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	LOC129993503, LOC129993504 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 516459	NM_014476.6(PDLIM3):c.331-16C>T	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign
Select item 454476	NM_014476.6(PDLIM3):c.375T>C (p.Pro125=)	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 385332	NM_014476.6(PDLIM3):c.398+9C>T	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 381046	NM_014476.6(PDLIM3):c.398+18T>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 240913	NM_014476.5(PDLIM3):c.-124_*1634dup2853	PDLIM3, LOC126807246	Duplication	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 227012	NM_014476.6(PDLIM3):c.331-354G>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	AADAT, ACSL1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LINC02500, LINC02504 +383 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	FAM149A, FAT1 +372 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	ACSL1, ANKRD37 +274 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993505, LOC129993506 +455 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	LOC129993464, LOC129993465 +339 more	Copy number loss	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	ACSL1, ANKRD37 +282 more	Copy number gain	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	SCRG1, SH3RF1 +485 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 151685	GRCh38/hg38 4q35.1(chr4:185447633-185579529)x3	CCDC110, CFAP96 +6 more	Copy number gain	See cases	GLikely benign
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	LOC129993480, LOC129993481 +466 more	Copy number loss	See cases	GPathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	LOC129993452, LOC129993453 +275 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	LOC129993443, LOC129993444 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	LOC126807246, LOC126807247 +286 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	ACSL1, ANKRD37 +285 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 145830	GRCh38/hg38 4q35.1(chr4:185498280-185579529)x3	LOC114827834, LOC126807246 +1 more	Copy number gain	See cases	GLikely benign
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	LOC129993511, LOC129993512 +185 more	Copy number gain	See cases	GPathogenic
Select item 138669	NM_014476.6(PDLIM3):c.387G>A (p.Pro129=)	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC129993464, LOC129993465 +293 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993497, LOC129993498 +509 more	Copy number loss	See cases	GPathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993386, LOC129993387 +535 more	Copy number gain	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 31838	NM_014476.6(PDLIM3):c.379G>A (p.Val127Met)	LOC126807246, PDLIM3 (V127M +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign

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Links from Gene

Items: 94