"Ambry Genetics"[submitter] AND "PDLIM5"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211007	NM_006457.5(PDLIM5):c.103G>A (p.Asp35Asn)	PDLIM5 (D35N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538433	NM_006457.5(PDLIM5):c.109G>A (p.Gly37Ser)	PDLIM5 (G37S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616888	NM_006457.5(PDLIM5):c.142G>A (p.Asp48Asn)	PDLIM5 (D48N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319264	NM_006457.5(PDLIM5):c.223G>A (p.Gly75Ser)	PDLIM5 (G75S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211009	NM_006457.5(PDLIM5):c.268C>T (p.Pro90Ser)	PDLIM5 (P90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211010	NM_006457.5(PDLIM5):c.369G>C (p.Met123Ile)	PDLIM5 (M123I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592969	NM_006457.5(PDLIM5):c.389G>A (p.Arg130Gln)	PDLIM5 (R8Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328046	NM_006457.5(PDLIM5):c.389G>T (p.Arg130Leu)	PDLIM5 (R8L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211011	NM_006457.5(PDLIM5):c.391C>A (p.Pro131Thr)	PDLIM5 (P9T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609941	NM_006457.5(PDLIM5):c.406T>G (p.Ser136Ala)	PDLIM5 (S136A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211012	NM_006457.5(PDLIM5):c.440C>T (p.Ser147Leu)	PDLIM5 (S147L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252696	NM_006457.5(PDLIM5):c.443C>G (p.Ser148Cys)	PDLIM5 (S148C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601952	NM_006457.5(PDLIM5):c.464C>T (p.Ala155Val)	PDLIM5 (A33V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475579	NM_006457.5(PDLIM5):c.505G>A (p.Val169Ile)	PDLIM5 (V169I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357244	NM_006457.5(PDLIM5):c.599C>A (p.Ala200Glu)	PDLIM5 (A78E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396874	NM_006457.5(PDLIM5):c.728T>C (p.Ile243Thr)	PDLIM5 (I120T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508994	NM_006457.5(PDLIM5):c.736C>T (p.Arg246Cys)	PDLIM5 (R123C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211013	NM_006457.5(PDLIM5):c.752A>G (p.Tyr251Cys)	PDLIM5 (Y128C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211014	NM_006457.5(PDLIM5):c.767A>G (p.His256Arg)	PDLIM5 (H134R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537643	NM_006457.5(PDLIM5):c.815G>A (p.Arg272His)	PDLIM5 (R149H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621502	NM_006457.5(PDLIM5):c.817C>A (p.Pro273Thr)	PDLIM5 (P151T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283218	NM_006457.5(PDLIM5):c.941C>T (p.Pro314Leu)	PDLIM5 (P192L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403437	NM_006457.5(PDLIM5):c.971G>A (p.Arg324Gln)	PDLIM5 (R202Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268710	NM_006457.5(PDLIM5):c.1255A>T (p.Met419Leu)	PDLIM5 (M448L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488533	NM_006457.5(PDLIM5):c.1322C>G (p.Pro441Arg)	PDLIM5 (P332R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356754	NM_006457.5(PDLIM5):c.1334A>G (p.Asn445Ser)	PDLIM5 (N445S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211008	NM_006457.5(PDLIM5):c.1357A>G (p.Met453Val)	PDLIM5 (M350V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595404	NM_006457.5(PDLIM5):c.1478C>T (p.Ala493Val)	PDLIM5 (A390V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248685	NM_006457.5(PDLIM5):c.1538G>A (p.Arg513Gln)	PDLIM5 (R542Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521074	NM_006457.5(PDLIM5):c.1597C>G (p.Leu533Val)	PDLIM5 (L424V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372775	NM_006457.5(PDLIM5):c.1609A>T (p.Ile537Leu)	PDLIM5 (I428L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31