"Ambry Genetics"[submitter] AND "HESX1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2513263	NM_003865.3(HESX1):c.545A>T (p.Asn182Ile)	HESX1 (N182I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 7693	NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)	HESX1 (T181A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 985575	NM_003865.3(HESX1):c.479G>A (p.Arg160His)	HESX1 (R160H)	Single nucleotide variant (missense variant +1 more)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 1397880	NM_003865.3(HESX1):c.460-3T>C	HESX1	Single nucleotide variant (intron variant)	Growth hormone deficiency with pituitary anomalies +2 more	GUncertain significance
Select item 1417884	NM_003865.3(HESX1):c.350A>C (p.Gln117Pro)	HESX1 (Q117P)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 1709304	NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)	HESX1 (L103F)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 2294972	NM_003865.3(HESX1):c.254C>A (p.Ser85Ter)	HESX1 (S85*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2472923	NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)	HESX1 (S73N)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 3105520	NM_003865.3(HESX1):c.169A>C (p.Asn57His)	HESX1 (N57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1044830	NM_003865.3(HESX1):c.137C>T (p.Ala46Val)	HESX1 (A46V)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 1030719	NM_003865.3(HESX1):c.124C>T (p.His42Tyr)	HESX1 (H42Y)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance