PDLIM5[gene] - ClinVar

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Items: 65

	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	LOC129992850, LOC129992851 +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 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 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 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	SPATA18, SPATA4 +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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +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

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Items: 65