"GeneDx"[submitter] AND "PDLIM3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	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 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	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 145830	GRCh38/hg38 4q35.1(chr4:185498280-185579529)x3	LOC114827834, LOC126807246 +1 more	Copy number gain	See cases	GLikely benign
Select item 1316633	NM_014476.6(PDLIM3):c.*188dup	PDLIM3	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1230235	NM_014476.6(PDLIM3):c.92_125del	PDLIM3	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1318143	NM_014476.6(PDLIM3):c.*89A>G	PDLIM3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1246598	NM_014476.6(PDLIM3):c.*19C>T	PDLIM3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 138676	NM_014476.6(PDLIM3):c.*12C>T	PDLIM3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 201955	NM_014476.6(PDLIM3):c.1082A>G (p.Tyr361Cys)	PDLIM3 (Y361C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 201949	NM_014476.6(PDLIM3):c.1074C>A (p.Val358=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 451734	NM_014476.6(PDLIM3):c.1040C>T (p.Ala347Val)	PDLIM3 (A347V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 511207	NM_014476.6(PDLIM3):c.1029C>T (p.Thr343=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 452375	NM_014476.6(PDLIM3):c.1007A>G (p.Glu336Gly)	PDLIM3 (E336G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 227013	NM_014476.6(PDLIM3):c.993C>A (p.Gly331=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 201954	NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln)	PDLIM3 (R309Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 449296	NM_014476.6(PDLIM3):c.913G>A (p.Val305Met)	PDLIM3 (V305M +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 138675	NM_014476.6(PDLIM3):c.906C>T (p.Val302=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 138674	NM_014476.6(PDLIM3):c.906-18C>T	PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +3 more	GBenign
Select item 671179	NM_014476.6(PDLIM3):c.906-40C>T	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242023	NM_014476.6(PDLIM3):c.906-99_906-98del	PDLIM3	Microsatellite (intron variant)	not provided	GBenign
Select item 1316726	NM_014476.6(PDLIM3):c.906-282T>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296556	NM_014476.6(PDLIM3):c.905+328T>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672898	NM_014476.6(PDLIM3):c.905+322G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671476	NM_014476.6(PDLIM3):c.905+58T>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 201948	NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn)	PDLIM3 (S299N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 388742	NM_014476.6(PDLIM3):c.858C>T (p.Gly286=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 138673	NM_014476.6(PDLIM3):c.849C>T (p.Gly283=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 138672	NM_014476.6(PDLIM3):c.831G>A (p.Pro277=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1276018	NM_014476.6(PDLIM3):c.794-120C>T	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675239	NM_014476.6(PDLIM3):c.794-147G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674104	NM_014476.6(PDLIM3):c.793+48C>T	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674107	NM_014476.6(PDLIM3):c.793+29G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31839	NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)	PDLIM3 (T245I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 201953	NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)	PDLIM3 (D239N +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 507033	NM_014476.6(PDLIM3):c.705G>C (p.Arg235=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 378351	NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu)	PDLIM3 (V233L +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 201947	NM_014476.6(PDLIM3):c.696C>T (p.Asp232=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 520259	NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu)	PDLIM3 (P228L +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 138671	NM_014476.6(PDLIM3):c.678G>A (p.Ser226=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 138670	NM_014476.6(PDLIM3):c.663-16C>T	PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 671178	NM_014476.6(PDLIM3):c.663-35A>G	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671325	NM_014476.6(PDLIM3):c.663-65T>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317708	NM_014476.6(PDLIM3):c.663-207C>T	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671427	NM_014476.6(PDLIM3):c.663-279A>G	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317733	NM_014476.6(PDLIM3):c.662+229G>T	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676062	NM_014476.6(PDLIM3):c.662+172A>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676061	NM_014476.6(PDLIM3):c.662+106A>G	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424420	NM_014476.6(PDLIM3):c.597T>A (p.Asp199Glu)	PDLIM3 (D199E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 201952	NM_014476.6(PDLIM3):c.573T>A (p.Asn191Lys)	PDLIM3 (N191K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 227843	NM_014476.6(PDLIM3):c.567G>A (p.Gln189=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 386638	NM_014476.6(PDLIM3):c.501G>A (p.Ala167=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 429299	NM_014476.6(PDLIM3):c.448C>T (p.Pro150Ser)	PDLIM3 (P150S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 378350	NM_014476.6(PDLIM3):c.440G>A (p.Arg147His)	PDLIM3 (R147H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1293041	NM_014476.6(PDLIM3):c.417C>A (p.Ser139=)	PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 229141	NM_014476.6(PDLIM3):c.399-10A>G	PDLIM3	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 378349	NM_014476.6(PDLIM3):c.399-18G>A	PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 675752	NM_014476.6(PDLIM3):c.399-112C>G	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258526	NM_014476.6(PDLIM3):c.399-181G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683683	NM_014476.6(PDLIM3):c.399-258G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683682	NM_014476.6(PDLIM3):c.399-275A>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316276	NM_014476.6(PDLIM3):c.398+232C>G	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	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 385332	NM_014476.6(PDLIM3):c.398+9C>T	PDLIM3, LOC126807246	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 31838	NM_014476.6(PDLIM3):c.379G>A (p.Val127Met)	LOC126807246, PDLIM3 (V127M +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 516459	NM_014476.6(PDLIM3):c.331-16C>T	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1318119	NM_014476.6(PDLIM3):c.331-73A>G	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 227012	NM_014476.6(PDLIM3):c.331-354G>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1317973	NM_014476.6(PDLIM3):c.331-356C>T	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683684	NM_014476.6(PDLIM3):c.331-826del	PDLIM3	Deletion (intron variant)	not provided	GBenign
Select item 683681	NM_014476.6(PDLIM3):c.330+281A>G	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222097	NM_014476.6(PDLIM3):c.330+264_330+266del	PDLIM3	Microsatellite (intron variant)	not provided	GBenign
Select item 678567	NM_014476.6(PDLIM3):c.330+249_330+250del	PDLIM3	Deletion (intron variant)	not provided	GBenign
Select item 1317043	NM_014476.6(PDLIM3):c.330+146T>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510272	NM_014476.6(PDLIM3):c.330+6C>T	PDLIM3	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 380756	NM_014476.6(PDLIM3):c.246G>A (p.Arg82=)	PDLIM3	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 240914	NM_014476.6(PDLIM3):c.246-9_246-5del	PDLIM3	Microsatellite (intron variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 672915	NM_014476.6(PDLIM3):c.246-98T>G	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222781	NM_014476.6(PDLIM3):c.246-104G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235175	NM_014476.6(PDLIM3):c.246-133dup	PDLIM3	Duplication (intron variant)	not provided	GBenign
Select item 1229454	NM_014476.6(PDLIM3):c.246-133_246-132dup	PDLIM3	Duplication (intron variant)	not provided	GBenign
Select item 1178792	NM_014476.6(PDLIM3):c.246-133_246-131dup	PDLIM3	Duplication (intron variant)	not provided	GBenign
Select item 1239944	NM_014476.6(PDLIM3):c.246-178dup	PDLIM3	Duplication (intron variant)	not provided	GBenign
Select item 1290709	NM_014476.6(PDLIM3):c.246-170del	PDLIM3	Deletion (intron variant)	not provided	GBenign
Select item 1318050	NM_014476.6(PDLIM3):c.246-177G>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221079	NM_014476.6(PDLIM3):c.245+310C>T	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316289	NM_014476.6(PDLIM3):c.245+255G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318394	NM_014476.6(PDLIM3):c.245+157G>A	PDLIM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263823	NM_014476.6(PDLIM3):c.245+156A>C	PDLIM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512824	NM_014476.6(PDLIM3):c.201C>T (p.Asp67=)	PDLIM3	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 227844	NM_014476.6(PDLIM3):c.195G>A (p.Ala65=)	PDLIM3	Single nucleotide variant (synonymous variant +2 more)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 418403	NM_014476.6(PDLIM3):c.173_174del (p.Glu58fs)	PDLIM3 (E58fs)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 229140	NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)	PDLIM3 (T57A)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 516458	NM_014476.6(PDLIM3):c.168G>A (p.Gly56=)	PDLIM3	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 138668	NM_014476.6(PDLIM3):c.162C>T (p.Gly54=)	PDLIM3	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign

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