Related gene-specific medical variations for Gene (Select 27295) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256718	NM_014476.5:c.(?_1)_(93_?)del	PDLIM3	Deletion	not provided	GUncertain significance
Select item 3246579	NC_000004.11:g.(?_186427656)_(186429736_?)del	PDLIM3	Deletion	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3052200	NM_014476.6(PDLIM3):c.331-497T>A	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	PDLIM3-related disorder	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 2689674	NM_014476.6(PDLIM3):c.827C>T (p.Ala276Val)	PDLIM3 (A109V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 disorder	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)	not specified +2 more	GUncertain significance
Select item 1736177	NM_014476.6(PDLIM3):c.391C>A (p.Arg131=)	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1733591	NM_014476.6(PDLIM3):c.364C>T (p.Arg122Trp)	LOC126807246, PDLIM3 (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)	not specified +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)	not specified +2 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 516459	NM_014476.6(PDLIM3):c.331-16C>T	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 454476	NM_014476.6(PDLIM3):c.375T>C (p.Pro125=)	PDLIM3, LOC126807246	Single nucleotide variant (synonymous variant +1 more)	not specified +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 227012	NM_014476.6(PDLIM3):c.331-354G>A	LOC126807246, PDLIM3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 138669	NM_014476.6(PDLIM3):c.387G>A (p.Pro129=)	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 100860	NM_014476.6(PDLIM3):c.925C>T (p.Arg309Trp)	PDLIM3 (R309W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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: 39