PDLIM7[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211017	NM_005451.5(PDLIM7):c.1331A>G (p.Lys444Arg)	PDLIM7 (K410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211016	NM_005451.5(PDLIM7):c.1330A>G (p.Lys444Glu)	PDLIM7 (K444E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717548	NM_005451.5(PDLIM7):c.1302C>T (p.Asn434=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2326026	NM_005451.5(PDLIM7):c.1186T>A (p.Phe396Ile)	PDLIM7 (F362I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537389	NM_005451.5(PDLIM7):c.1160A>G (p.Tyr387Cys)	PDLIM7 (Y353C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211015	NM_005451.5(PDLIM7):c.1153G>A (p.Val385Met)	PDLIM7 (V351M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255952	NM_005451.5(PDLIM7):c.1141A>G (p.Met381Val)	PDLIM7 (M347V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289118	NM_005451.5(PDLIM7):c.1115C>T (p.Thr372Met)	PDLIM7 (T372M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720469	NM_005451.5(PDLIM7):c.1086G>T (p.Val362=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2366518	NM_005451.5(PDLIM7):c.1003G>A (p.Val335Met)	PDLIM7 (V301M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211027	NM_005451.5(PDLIM7):c.868C>T (p.Arg290Trp)	PDLIM7 (R256W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211026	NM_005451.5(PDLIM7):c.860A>G (p.Lys287Arg)	PDLIM7 (K253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211025	NM_005451.5(PDLIM7):c.841G>A (p.Val281Met)	PDLIM7 (V281M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305579	NM_005451.5(PDLIM7):c.829G>A (p.Gly277Ser)	PDLIM7 (G277S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724049	NM_005451.5(PDLIM7):c.798C>T (p.Ala266=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2387777	NM_005451.5(PDLIM7):c.752C>T (p.Thr251Met)	PDLIM7 (T217M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305580	NM_005451.5(PDLIM7):c.746C>T (p.Pro249Leu)	PDLIM7 (P215L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605268	NM_005451.5(PDLIM7):c.721A>G (p.Thr241Ala)	PDLIM7 (T207A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211024	NM_005451.5(PDLIM7):c.712A>G (p.Lys238Glu)	PDLIM7 (K238E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545912	NM_005451.5(PDLIM7):c.711C>G (p.Asp237Glu)	PDLIM7 (D203E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783626	NM_005451.5(PDLIM7):c.708G>A (p.Pro236=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3305581	NM_005451.5(PDLIM7):c.704C>T (p.Ala235Val)	PDLIM7 (A201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513573	NM_005451.5(PDLIM7):c.694G>C (p.Glu232Gln)	PDLIM7 (E198Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602050	NM_005451.5(PDLIM7):c.685G>A (p.Ala229Thr)	PDLIM7 (A229T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211023	NM_005451.5(PDLIM7):c.665C>T (p.Pro222Leu)	PDLIM7 (P222L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593959	NM_005451.5(PDLIM7):c.661C>T (p.Arg221Cys)	PDLIM7 (R187C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305578	NM_005451.5(PDLIM7):c.643G>A (p.Ala215Thr)	PDLIM7 (A181T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2622885	NM_005451.5(PDLIM7):c.631C>T (p.Pro211Ser)	PDLIM7 (P211S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211021	NM_005451.5(PDLIM7):c.614C>T (p.Thr205Ile)	PDLIM7 (T171I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545480	NM_005451.5(PDLIM7):c.382G>T (p.Ala128Ser)	PDLIM7 (A128S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211019	NM_005451.5(PDLIM7):c.349C>T (p.Arg117Trp)	PDLIM7 (R117W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211018	NM_005451.5(PDLIM7):c.304C>T (p.Pro102Ser)	PDLIM7 (P102S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274049	NM_005451.5(PDLIM7):c.256C>G (p.Pro86Ala)	PDLIM7 (P86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364265	NM_005451.5(PDLIM7):c.226C>A (p.Arg76Ser)	PDLIM7 (R76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325035	NM_005451.5(PDLIM7):c.211C>T (p.Arg71Trp)	PDLIM7 (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466934	NM_005451.5(PDLIM7):c.166G>A (p.Glu56Lys)	PDLIM7 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600177	NM_005451.5(PDLIM7):c.127G>A (p.Gly43Arg)	PDLIM7 (G43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305582	NM_005451.5(PDLIM7):c.101C>T (p.Thr34Ile)	PDLIM7 (T34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217878	NM_005451.5(PDLIM7):c.74A>G (p.Asn25Ser)	PDLIM7 (N25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206025	NM_005451.5(PDLIM7):c.67G>T (p.Asp23Tyr)	PDLIM7 (D23Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301131	NM_005451.5(PDLIM7):c.44G>A (p.Gly15Asp)	PDLIM7 (G15D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41