"GeneDx"[submitter] AND "HES7"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 1239596	NM_001165967.2(HES7):c.*131G>T	HES7, LOC130060203	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291988	NM_001165967.2(HES7):c.*81G>T	HES7, LOC130060203	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 262089	NM_001165967.2(HES7):c.402A>G (p.Lys134=)	HES7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 262088	NM_001165967.2(HES7):c.175T>C (p.Leu59=)	HES7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1312918	NM_001165967.2(HES7):c.141C>A (p.Asn47Lys)	HES7 (N47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244321	NM_001165967.2(HES7):c.138+271G>C	HES7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262087	NM_001165967.2(HES7):c.123G>A (p.Glu41=)	HES7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1255190	NM_001165967.2(HES7):c.42+43T>C	HES7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242485	NC_000017.11:g.8124275G>T	HES7	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1282551	NC_000017.11:g.8124326G>A	HES7	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign