"PreventionGenetics, part of Exact Sciences"[submitter] AND "PUS3"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728635	NM_031307.4(PUS3):c.1264G>A (p.Gly422Arg)	HYLS1, PUS3 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2193909	NM_031307.4(PUS3):c.1149T>C (p.Asp383=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1596292	NM_031307.4(PUS3):c.1122A>C (p.Val374=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2521731	NM_031307.4(PUS3):c.945T>C (p.Ser315=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 978657	NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	HYLS1, PUS3 (R280* +1 more)	Single nucleotide variant (nonsense +1 more)	Anencephaly +5 more	GLikely pathogenic
Select item 3036439	NM_031307.4(PUS3):c.660T>C (p.His220=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	PUS3-related disorder	GLikely benign
Select item 2070025	NM_031307.4(PUS3):c.605C>G (p.Ala202Gly)	HYLS1, PUS3 (A202G)	Single nucleotide variant (5 prime UTR variant +2 more)	PUS3-related disorder +1 more	GLikely benign
Select item 1169159	NM_031307.4(PUS3):c.535C>T (p.Pro179Ser)	HYLS1, PUS3 (P179S)	Single nucleotide variant (5 prime UTR variant +2 more)	PUS3-related disorder +1 more	GBenign
Select item 3045620	NM_001134793.2(HYLS1):c.-5A>C	HYLS1, PUS3	Single nucleotide variant (5 prime UTR variant +1 more)	HYLS1-related disorder	GLikely benign
Select item 303363	NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg)	HYLS1, PUS3 (C31R)	Single nucleotide variant (missense variant +1 more)	Hydrolethalus syndrome 1 +2 more	GBenign