"Illumina Laboratory Services, Illumina"[submitter] AND "HESX1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346284	NM_003865.3(HESX1):c.*192T>A	HESX1	Single nucleotide variant (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more	GUncertain significance
Select item 901509	NM_003865.3(HESX1):c.*48G>A	HESX1	Single nucleotide variant (3 prime UTR variant +1 more)	Septo-optic dysplasia sequence	GUncertain significance
Select item 7693	NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)	HESX1 (T181A)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 197222	NM_003865.3(HESX1):c.525G>A (p.Ala175=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 267733	NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	HESX1 (V129I)	Single nucleotide variant (missense variant)	HESX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 282975	NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)	HESX1 (N125S)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +4 more	GBenign/Likely benign
Select item 346285	NM_003865.3(HESX1):c.220G>A (p.Val74Met)	HESX1 (V74M)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 779725	NM_003865.3(HESX1):c.183T>C (p.His61=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GConflicting classifications of pathogenicity
Select item 1328541	NM_003865.3(HESX1):c.59C>G (p.Ser20Cys)	HESX1 (S20C)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GUncertain significance
Select item 902082	NM_003865.3(HESX1):c.-6G>A	HESX1	Single nucleotide variant (5 prime UTR variant)	Septo-optic dysplasia sequence	GUncertain significance
Select item 346286	NM_003865.2(HESX1):c.-203_-200delAATT	HESX1	Deletion (intron variant)	Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more	GUncertain significance
Select item 346287	NM_003865.2(HESX1):c.-230T>A	HESX1	Single nucleotide variant (intron variant)	Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more	GUncertain significance
Select item 346288	NM_003865.2(HESX1):c.-245delT	HESX1	Deletion (intron variant)	Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more	GUncertain significance
Select item 346289	NM_003865.2(HESX1):c.-276T>G	HESX1	Single nucleotide variant (intron variant)	Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more	GConflicting classifications of pathogenicity