"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ATF4"[g - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 725766	NM_182810.3(ATF4):c.7G>A (p.Glu3Lys)	ATF4 (E3K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791218	NM_182810.3(ATF4):c.240C>T (p.Ser80=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709309	NM_182810.3(ATF4):c.393T>C (p.Asn131=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783889	NM_182810.3(ATF4):c.404C>T (p.Pro135Leu)	ATF4 (P135L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784891	NM_182810.3(ATF4):c.409A>T (p.Thr137Ser)	ATF4 (T137S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726550	NM_182810.3(ATF4):c.498C>T (p.Ser166=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717867	NM_182810.3(ATF4):c.579G>A (p.Arg193=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783890	NM_182810.3(ATF4):c.600C>T (p.Tyr200=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791375	NM_182810.3(ATF4):c.601G>A (p.Val201Ile)	ATF4 (V201I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789500	NM_182810.3(ATF4):c.624A>G (p.Ile208Met)	ATF4 (I208M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780657	NM_182810.3(ATF4):c.772C>G (p.Pro258Ala)	ATF4 (P258A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736103	NM_182810.3(ATF4):c.912G>A (p.Glu304=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783891	NM_182810.3(ATF4):c.966G>C (p.Glu322Asp)	ATF4 (E322D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775455	NM_182810.3(ATF4):c.971C>T (p.Ala324Val)	ATF4 (A324V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	MCHR1, MGAT3 +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	PHETA2, PHF5A +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	SNORD83A, SNORD83B +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance