ClinVar for MedGen (Select 343455) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557646	NM_001134793.2(HYLS1):c.220_221del (p.Glu74fs)	PUS3, HYLS1 (E74fs)	Deletion (frameshift variant +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 557012	NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter)	HYLS1, PUS3 (R19*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GUncertain significance
Select item 556505	NM_001134793.2(HYLS1):c.459del (p.Lys153fs)	HYLS1, PUS3 (K153fs)	Deletion (frameshift variant +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 556120	NM_001134793.2(HYLS1):c.73_78del (p.Thr25_Ala26del)	HYLS1, PUS3	Deletion (inframe_deletion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 555374	NM_001134793.2(HYLS1):c.167_169del (p.Val56del)	PUS3, HYLS1 (V56del)	Deletion (inframe_deletion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 555336	NM_001134793.2(HYLS1):c.145_147del (p.Asp49del)	HYLS1, PUS3 (D49del)	Deletion (inframe_deletion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 554935	NM_001134793.2(HYLS1):c.536_544del (p.Ser179_Ala181del)	HYLS1, PUS3	Deletion (inframe_deletion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 554866	NM_001134793.2(HYLS1):c.284_286dup (p.Lys95dup)	HYLS1, PUS3	Duplication (inframe_insertion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 554542	NM_001134793.2(HYLS1):c.851_859del (p.Ala284_Gly286del)	PUS3, HYLS1	Deletion (inframe_deletion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 550484	NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del)	PUS3, HYLS1 (S299del)	Microsatellite (inframe_deletion +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 303364	NM_001134793.2(HYLS1):c.298C>T (p.Arg100Cys)	HYLS1, PUS3 (R100C)	Single nucleotide variant (missense variant +1 more)	Hydrolethalus syndrome 1	GUncertain significance
Select item 303363	NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg)	HYLS1, PUS3 (C31R)	Single nucleotide variant (missense variant +1 more)	HYLS1-related condition +2 more	GBenign
Select item 1143	NM_031307.4(PUS3):c.-47+3170T>C	HYLS1, PUS3 (D211G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic