C1853297[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1337109	NM_001807.6(CEL):c.99G>C (p.Val33=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 549532	NM_001807.6(CEL):c.358G>A (p.Val120Ile)	CEL (V120I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 713280	NM_001807.6(CEL):c.402C>G (p.Gly134=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign/Likely benign
Select item 1188153	NM_001807.6(CEL):c.670-4G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1809699	NM_001807.6(CEL):c.718A>G (p.Ser240Gly)	CEL (S240G)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1328326	NM_001807.6(CEL):c.777+7G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GLikely benign
Select item 917438	NM_001807.6(CEL):c.850C>G (p.Arg284Gly)	CEL (R284G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1677928	NM_001807.6(CEL):c.895+2dup	CEL	Duplication (splice donor variant)	Maturity-onset diabetes of the young type 8 +1 more	GUncertain significance
Select item 1214762	NM_001807.6(CEL):c.1335C>T (p.Pro445=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1194575	NM_001807.6(CEL):c.1485-8C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign/Likely benign
Select item 1288982	NM_001807.6(CEL):c.1659C>G (p.Thr553=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign
Select item 1302296	NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)	CEL	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1191595	NM_001807.6(CEL):c.1677T>C (p.Pro559=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1216982	NM_001807.6(CEL):c.1689A>G (p.Thr563=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1211306	NM_001807.6(CEL):c.1692G>T (p.Gly564=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1202123	NM_001807.6(CEL):c.1716C>G (p.Pro572=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1202347	NM_001807.6(CEL):c.1833G>C (p.Gly611=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 128691	NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)	CEL (S698A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance