"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AGPAT2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365914	NM_006412.4(AGPAT2):c.*79C>G	AGPAT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 915051	NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)	AGPAT2 (P263L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912322	NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)	AGPAT2 (R218Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365918	NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)	AGPAT2 (R250W +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 735097	NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 430117	NM_006412.4(AGPAT2):c.662-2A>C	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 1 +1 more	GPathogenic/Likely pathogenic
Select item 365922	NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	AGPAT2 (K216* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365923	NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)	AGPAT2 (V202M +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 6625	NM_006412.4(AGPAT2):c.589-2A>G	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy +2 more	GPathogenic
Select item 372108	NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	AGPAT2 (E172K)	Single nucleotide variant (missense variant +1 more)	Congenital generalized lipodystrophy type 1 +1 more	GPathogenic/Likely pathogenic
Select item 365924	NM_006412.4(AGPAT2):c.493-3C>T	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy +1 more	GUncertain significance
Select item 259978	NM_006412.4(AGPAT2):c.493-17C>A	AGPAT2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 365926	NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)	AGPAT2 (R159L)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913828	NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)	AGPAT2 (F139V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 723485	NM_006412.4(AGPAT2):c.408G>A (p.Gly136=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1 +1 more	GLikely benign
Select item 6626	NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	AGPAT2 (P128fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 913830	NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)	AGPAT2 (R121G)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 259976	NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)	AGPAT2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 771430	NM_006412.4(AGPAT2):c.273C>G (p.Pro91=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1 +1 more	GBenign/Likely benign
Select item 1338051	NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro)	AGPAT2 (R90P)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +2 more	GUncertain significance
Select item 282346	NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)	AGPAT2 (R90H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 917424	NM_006412.4(AGPAT2):c.230G>A (p.Arg77His)	AGPAT2 (R77H)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +3 more	GConflicting classifications of pathogenicity
Select item 128289	NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys)	AGPAT2 (R77C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304896	NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg)	AGPAT2 (G75R)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +1 more	GUncertain significance
Select item 549536	NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val)	AGPAT2 (F70V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 6624	NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	AGPAT2 (R68*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1337369	NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser)	AGPAT2 (G64S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 365932	NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1 +2 more	GBenign/Likely benign
Select item 728009	NM_006412.4(AGPAT2):c.24C>G (p.Ala8=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 912370	NM_006412.4(AGPAT2):c.-18C>A	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30