ClinVar for Gene (Select 79727) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290764	NM_024674.6(LIN28A):c.253C>T (p.Arg85Trp)	LIN28A (R85W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118920	NM_024674.6(LIN28A):c.575G>A (p.Arg192Gln)	LIN28A (R192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118919	NM_024674.6(LIN28A):c.544C>G (p.Pro182Ala)	LIN28A (P182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2609754	NM_024674.6(LIN28A):c.526C>G (p.Leu176Val)	LIN28A (L176V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2395878	NM_024674.6(LIN28A):c.566C>T (p.Thr189Ile)	LIN28A (T189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318061	NM_024674.6(LIN28A):c.587A>G (p.Glu196Gly)	LIN28A (E196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286996	NM_024674.6(LIN28A):c.100G>A (p.Glu34Lys)	LIN28A (E34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284599	NM_024674.6(LIN28A):c.368G>A (p.Arg123Gln)	LIN28A (R123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284306	NM_024674.6(LIN28A):c.422A>G (p.Asn141Ser)	LIN28A (N141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232561	NM_024674.6(LIN28A):c.605C>T (p.Thr202Ile)	LIN28A (T202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 711821	NM_024674.6(LIN28A):c.87C>G (p.Ala29=)	LIN28A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687260	GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3	CD52, CEP85 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20