ClinVar for Gene (Select 5324) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370286	NM_002655.3(PLAG1):c.478del (p.Glu160fs)	LOC126860395, PLAG1 (E160fs +1 more)	Deletion (frameshift variant)	Russell-Silver syndrome	GLikely pathogenic
Select item 3366170	NM_002655.3(PLAG1):c.1025C>T (p.Ala342Val)	LOC126860395, PLAG1 (A260V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3307263	NM_002655.3(PLAG1):c.1399G>T (p.Ala467Ser)	PLAG1 (A467S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307262	NM_002655.3(PLAG1):c.493C>T (p.Leu165Phe)	LOC126860395, PLAG1 (L165F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307261	NM_002655.3(PLAG1):c.244C>T (p.His82Tyr)	LOC126860395, PLAG1 (H82Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307260	NM_002655.3(PLAG1):c.44C>T (p.Thr15Ile)	PLAG1 (T15I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307259	NM_002655.3(PLAG1):c.1093G>C (p.Gly365Arg)	PLAG1 (G283R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307258	NM_002655.3(PLAG1):c.412C>T (p.Arg138Cys)	LOC126860395, PLAG1 (R138C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307257	NM_002655.3(PLAG1):c.612G>A (p.Met204Ile)	LOC126860395, PLAG1 (M204I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307256	NM_002655.3(PLAG1):c.304C>T (p.His102Tyr)	LOC126860395, PLAG1 (H20Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307255	NM_002655.3(PLAG1):c.194T>C (p.Ile65Thr)	PLAG1 (I65T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3307254	NM_002655.3(PLAG1):c.750C>G (p.Phe250Leu)	LOC126860395, PLAG1 (F168L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252185	NM_002655.3(PLAG1):c.802_832del (p.Pro268fs)	LOC126860395, PLAG1 (P186fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3214280	NM_002655.3(PLAG1):c.894G>T (p.Met298Ile)	LOC126860395, PLAG1 (M298I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214279	NM_002655.3(PLAG1):c.602G>A (p.Arg201Gln)	LOC126860395, PLAG1 (R201Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214278	NM_002655.3(PLAG1):c.1408A>G (p.Ile470Val)	PLAG1 (I470V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214277	NM_002655.3(PLAG1):c.1228C>T (p.Pro410Ser)	PLAG1 (P328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068518	NM_002655.3(PLAG1):c.545A>T (p.Glu182Val)	LOC126860395, PLAG1 (E100V +1 more)	Single nucleotide variant (missense variant)	Silver-russell syndrome 4	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3045787	NM_002655.3(PLAG1):c.278A>T (p.Lys93Met)	LOC126860395, PLAG1 (K11M +1 more)	Single nucleotide variant (missense variant)	PLAG1-related disorder	GLikely benign
Select item 3041287	NM_002655.3(PLAG1):c.1357G>C (p.Val453Leu)	PLAG1 (V371L +1 more)	Single nucleotide variant (missense variant)	PLAG1-related disorder	GLikely benign
Select item 2685311	GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1	BPNT2, CHCHD7 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 2637241	NM_002655.3(PLAG1):c.1075dup (p.Tyr359fs)	LOC126860395, PLAG1 (Y277fs +1 more)	Duplication (frameshift variant)	PLAG1-related disorder	GLikely pathogenic
Select item 2590086	NM_002655.3(PLAG1):c.370G>A (p.Glu124Lys)	LOC126860395, PLAG1 (E124K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574425	NM_002655.3(PLAG1):c.689G>A (p.Arg230Gln)	LOC126860395, PLAG1 (R148Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504817	NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter)	LOC126860395, PLAG1 (R115* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2430393	NM_002655.3(PLAG1):c.68G>A (p.Arg23His)	PLAG1 (R23H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429191	NM_002655.3(PLAG1):c.1373C>G (p.Pro458Arg)	PLAG1 (P376R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366248	NM_002655.3(PLAG1):c.359C>T (p.Thr120Met)	LOC126860395, PLAG1 (T120M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355110	NM_002655.3(PLAG1):c.1346C>T (p.Ala449Val)	PLAG1 (A449V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2346149	NM_002655.3(PLAG1):c.1213A>G (p.Ile405Val)	PLAG1 (I405V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340931	NM_002655.3(PLAG1):c.1061G>A (p.Gly354Glu)	LOC126860395, PLAG1 (G272E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333592	NM_002655.3(PLAG1):c.1155T>G (p.Asp385Glu)	PLAG1 (D303E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328640	NM_002655.3(PLAG1):c.1261T>G (p.Leu421Val)	PLAG1 (L339V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300838	NM_002655.3(PLAG1):c.469C>A (p.Gln157Lys)	LOC126860395, PLAG1 (Q157K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244779	NM_002655.3(PLAG1):c.74G>A (p.Arg25His)	PLAG1 (R25H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236750	NM_002655.3(PLAG1):c.343G>A (p.Asp115Asn)	LOC126860395, PLAG1 (D115N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220053	NM_002655.3(PLAG1):c.67C>T (p.Arg23Cys)	PLAG1 (R23C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213219	NM_002655.3(PLAG1):c.902C>T (p.Ser301Leu)	LOC126860395, PLAG1 (S301L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879713	NM_002655.3(PLAG1):c.1461C>G (p.Ser487Arg)	PLAG1 (S405R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706762	NM_002655.3(PLAG1):c.1457T>G (p.Leu486Ter)	PLAG1 (L404* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1687610	NM_002655.3(PLAG1):c.441_489del (p.Ser147fs)	PLAG1, LOC126860395 (S147fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4	GLikely pathogenic
Select item 1511848	NC_000008.10:g.(?_56854419)_(57906144_?)dup	PENK, SDR16C5 +6 more	Duplication	not provided	GUncertain significance
Select item 1345016	NM_002655.3(PLAG1):c.1372C>A (p.Pro458Thr)	PLAG1 (P376T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1325824	NM_002655.3(PLAG1):c.758dup (p.Phe254fs)	LOC126860395, PLAG1 (F172fs +1 more)	Duplication (frameshift variant)	Silver-russell syndrome 4	GUncertain significance
Select item 1309069	NM_002655.3(PLAG1):c.1367dup (p.Gln459fs)	PLAG1 (Q377fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1307742	NM_002655.3(PLAG1):c.785_786del (p.Ile262fs)	LOC126860395, PLAG1 (I180fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1172638	NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)	PLAG1 (D315fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 431023	t(8;10)(q12.1;q23.31)	ACTA2, PLAG1	Translocation	Lung adenocarcinoma	GLikely pathogenic
Select item 395247	GRCh37/hg19 8q12.1(chr8:56806172-57128944)x3	CHCHD7, LYN +3 more	Copy number gain	See cases	GLikely benign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253344	GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1	TGS1, PENK +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 253204	NM_002655.3(PLAG1):c.439del (p.Ser147fs)	PLAG1, LOC126860395 (S147fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic
Select item 253033	NM_002655.3(PLAG1):c.1363del (p.Gln455fs)	PLAG1 (Q373fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 154925	GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1	CERNA3, CHCHD7 +69 more	Copy number loss	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 78