PLET1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3307722	NM_001145024.1(PLET1):c.535G>A (p.Glu179Lys)	PLET1 (E179K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215218	NM_001145024.1(PLET1):c.508A>G (p.Met170Val)	PLET1 (M170V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354420	NM_001145024.1(PLET1):c.422T>C (p.Leu141Pro)	PLET1 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307723	NM_001145024.1(PLET1):c.419T>C (p.Ile140Thr)	PLET1 (I140T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215216	NM_001145024.1(PLET1):c.359C>G (p.Pro120Arg)	PLET1 (P120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215215	NM_001145024.1(PLET1):c.257G>A (p.Gly86Asp)	PLET1 (G86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215214	NM_001145024.1(PLET1):c.208G>A (p.Val70Ile)	PLET1 (V70I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215213	NM_001145024.1(PLET1):c.179A>G (p.Tyr60Cys)	LOC100132686, PLET1 (Y60C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3307725	NM_001145024.1(PLET1):c.170A>G (p.Asn57Ser)	LOC100132686, PLET1 (N57S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349118	NM_001145024.1(PLET1):c.155A>G (p.His52Arg)	LOC100132686, PLET1 (H52R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462496	NM_001145024.1(PLET1):c.111T>G (p.Phe37Leu)	LOC100132686, PLET1 (F37L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481602	NM_001145024.1(PLET1):c.47T>C (p.Leu16Pro)	LOC100132686, PLET1 (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263833	NM_001145024.1(PLET1):c.26T>C (p.Leu9Pro)	LOC100132686, PLET1 (L9P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2684655	GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	BCO2, DIXDC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979324	GRCh37/hg19 11q23.1(chr11:111974627-112188807)x1	PLET1, PTS +4 more	Copy number loss	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 30