"HEY1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054059	NM_012258.4(HEY1):c.888T>C (p.Pro296=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3041983	NM_012258.4(HEY1):c.854C>T (p.Thr285Met)	HEY1 (T195M +2 more)	Single nucleotide variant (missense variant)	HEY1-related disorder	GLikely benign
Select item 3033148	NM_012258.4(HEY1):c.811T>C (p.Phe271Leu)	HEY1 (F181L +2 more)	Single nucleotide variant (missense variant)	HEY1-related disorder	GBenign
Select item 3046066	NM_012258.4(HEY1):c.396A>C (p.Ala132=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3058622	NM_012258.4(HEY1):c.384G>A (p.Arg128=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 2658672	NM_012258.4(HEY1):c.375G>A (p.Leu125=)	HEY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1232147	NM_012258.4(HEY1):c.331+386_331+392del	HEY1 (M1fs)	Deletion (frameshift variant +2 more)	HEY1-related disorder +1 more	GBenign
Select item 3040255	NM_012258.4(HEY1):c.33G>C (p.Ser11=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3034725	NM_012258.4(HEY1):c.30C>T (p.Ser10=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GLikely benign
Select item 3033550	NM_012258.4(HEY1):c.18C>G (p.Pro6=)	HEY1	Single nucleotide variant (synonymous variant)	HEY1-related disorder	GBenign