"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GPD1L"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190760	NM_015141.4(GPD1L):c.81T>C (p.Asn27=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome 2 +3 more	GBenign/Likely benign
Select item 1496581	NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg)	GPD1L (T53R)	Single nucleotide variant (missense variant)	Brugada syndrome 2 +2 more	GUncertain significance
Select item 787	NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)	GPD1L	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1250797	NM_015141.4(GPD1L):c.367-11C>A	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome 2 +1 more	GBenign/Likely benign
Select item 696375	NM_015141.4(GPD1L):c.367-11_367-10delinsAT	GPD1L	Indel (intron variant)	Brugada syndrome +1 more	GLikely benign
Select item 1245688	NM_015141.3(GPD1L):c.367-10A>T	GPD1L	Single nucleotide variant	Brugada syndrome 2 +2 more	GBenign/Likely benign
Select item 1056227	NM_015141.4(GPD1L):c.376del (p.Glu126fs)	GPD1L (E126fs)	Deletion (frameshift variant)	Brugada syndrome 2 +2 more	GUncertain significance
Select item 191446	NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys)	GPD1L (R139C)	Single nucleotide variant (missense variant)	Brugada syndrome 2 +1 more	GUncertain significance
Select item 1047243	NM_015141.4(GPD1L):c.416G>A (p.Arg139His)	GPD1L (R139H)	Single nucleotide variant (missense variant)	Brugada syndrome 2 +2 more	GUncertain significance
Select item 463285	NM_015141.4(GPD1L):c.459C>T (p.Asn153=)	GPD1L	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 463286	NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser)	GPD1L (N156S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 849031	NM_015141.4(GPD1L):c.482A>G (p.Glu161Gly)	GPD1L (E161G)	Single nucleotide variant (missense variant)	Brugada syndrome 2 +1 more	GUncertain significance
Select item 452285	NM_015141.4(GPD1L):c.505G>A (p.Gly169Ser)	GPD1L (G169S)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 809441	NM_015141.4(GPD1L):c.505+2T>G	GPD1L	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1041106	NM_015141.4(GPD1L):c.619-9C>A	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 416016	NM_015141.4(GPD1L):c.619-9C>G	GPD1L	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 656217	NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys)	GPD1L (R220C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 487599	NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg)	GPD1L (G259R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 789	NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)	GPD1L (R273C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 644362	NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr)	GPD1L (A280T)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1515725	NM_015141.4(GPD1L):c.853-2A>G	GPD1L	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1423143	NM_015141.4(GPD1L):c.878T>C (p.Met293Thr)	GPD1L (M293T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 519421	NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu)	GPD1L (P302L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 386094	NM_015141.4(GPD1L):c.959+11C>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome +2 more	GLikely benign
Select item 218714	NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu)	GPD1L (A326E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 410225	NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys)	GPD1L (E333K)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 516287	NM_015141.4(GPD1L):c.1038C>T (p.Ser346=)	GPD1L	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

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Items: 27