PDLIM5[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 152885	GRCh38/hg38 4q22.2-22.3(chr4:94071164-94561427)x4	HPGDS, LOC112997547 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2654954	NM_006457.5(PDLIM5):c.96+871G>A	PDLIM5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 777394	NM_006457.5(PDLIM5):c.465G>A (p.Ala155=)	PDLIM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3305575	NM_006457.5(PDLIM5):c.586G>A (p.Ala196Thr)	PDLIM5 (A74T +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 152297	GRCh38/hg38 4q22.3(chr4:94580110-95188656)x3	BMPR1B, BMPR1B-DT +3 more	Copy number gain	See cases	GLikely benign
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 149266	GRCh38/hg38 4q22.3(chr4:94616498-95446867)x3	BMPR1B, BMPR1B-DT +5 more	Copy number gain	See cases	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 3305576	NM_006457.5(PDLIM5):c.974G>C (p.Ser325Thr)	PDLIM5 (S354T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773710	NM_006457.5(PDLIM5):c.1033= (p.Ala345=)	PDLIM5	Variation (no sequence alteration)	not provided	GBenign
Select item 760601	NM_006457.5(PDLIM5):c.1227G>A (p.Glu409=)	PDLIM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 3305577	NM_006457.5(PDLIM5):c.1617T>A (p.His539Gln)	PDLIM5 (H436Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789175	NM_006457.5(PDLIM5):c.1670A>G (p.Tyr557Cys)	PDLIM5 (Y586C +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527110	GRCh37/hg19 4q22.2-22.3(chr4:95007859-95510281)	HPGDS, PDLIM5 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1341210	GRCh37/hg19 4q22.2-22.3(chr4:94684885-95389684)x3	ATOH1, GRID2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 814586	GRCh37/hg19 4q22.3(chr4:95240876-95497772)x3	PDLIM5, HPGDS	Copy number gain	not provided	GUncertain significance
Select item 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 560046	Single allele	BMPR1B, PDLIM5 +1 more	Duplication	not provided	GLikely benign
Select item 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394374	GRCh37/hg19 4q22.3(chr4:95263892-95492115)x3	HPGDS, PDLIM5	Copy number gain	See cases	GLikely benign
Select item 253918	GRCh37/hg19 4q22.3(chr4:95492115-96061295)x3	PDLIM5, BMPR1B	Copy number gain	See cases	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: 68