"PreventionGenetics, part of Exact Sciences"[submitter] AND "HHAT"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042732	NM_018194.6(HHAT):c.-57G>C	HHAT	Single nucleotide variant (synonymous variant +2 more)	HHAT-related disorder	GLikely benign
Select item 775660	NM_018194.6(HHAT):c.68A>G (p.Tyr23Cys)	HHAT (Y23C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 728722	NM_018194.6(HHAT):c.526C>T (p.Arg176Cys)	HHAT (R111C +2 more)	Single nucleotide variant (missense variant +1 more)	HHAT-related disorder +1 more	GBenign
Select item 2145610	NM_018194.6(HHAT):c.789C>A (p.His263Gln)	HHAT (H264Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 721005	NM_018194.6(HHAT):c.935G>A (p.Arg312His)	HHAT (R247H +3 more)	Single nucleotide variant (missense variant)	HHAT-related disorder +1 more	GBenign
Select item 790251	NM_018194.6(HHAT):c.997G>A (p.Gly333Arg)	HHAT (G333R +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia-pseudohermaphroditism syndrome +2 more	GBenign/Likely benign
Select item 782083	NM_018194.6(HHAT):c.1112C>T (p.Thr371Ile)	HHAT (T306I +3 more)	Single nucleotide variant (missense variant)	HHAT-related disorder +1 more	GLikely benign
Select item 769256	NM_018194.6(HHAT):c.1146C>T (p.Tyr382=)	HHAT	Single nucleotide variant (synonymous variant)	HHAT-related disorder +1 more	GBenign/Likely benign
Select item 787222	NM_018194.6(HHAT):c.1167A>G (p.Ala389=)	HHAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3041338	NM_018194.6(HHAT):c.1284C>T (p.His428=)	HHAT	Single nucleotide variant (synonymous variant)	HHAT-related disorder	GLikely benign
Select item 2167399	NM_018194.6(HHAT):c.1311G>A (p.Ser437=)	HHAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign