Related gene-specific medical variations for Gene (Select 113510) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105092	NM_133636.5(HELQ):c.5A>G (p.Asp2Gly)	HELQ, LOC112997542 (D2G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105091	NM_133636.5(HELQ):c.54C>G (p.Asn18Lys)	HELQ, LOC112997542 (N18K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105079	NM_133636.5(HELQ):c.16T>G (p.Ser6Ala)	HELQ, LOC112997542 (S6A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048428	NM_133636.5(HELQ):c.47A>G (p.Lys16Arg)	HELQ, LOC112997542 (K16R)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition	GLikely benign
Select item 3041319	NM_133636.5(HELQ):c.108C>G (p.Pro36=)	HELQ, LOC112997542	Single nucleotide variant (synonymous variant +2 more)	HELQ-related condition	GBenign
Select item 3037678	NM_133636.5(HELQ):c.224T>A (p.Leu75His)	HELQ, LOC112997542 (L75H)	Single nucleotide variant (missense variant +3 more)	HELQ-related condition	GLikely benign
Select item 3033776	NM_133636.5(HELQ):c.150C>T (p.Asn50=)	HELQ, LOC112997542	Single nucleotide variant (synonymous variant +2 more)	HELQ-related condition	GLikely benign
Select item 2517779	NM_133636.5(HELQ):c.19C>T (p.Arg7Cys)	HELQ, LOC112997542 (R7C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365992	NM_133636.5(HELQ):c.136A>G (p.Met46Val)	HELQ, LOC112997542 (M46V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326773	NM_133636.5(HELQ):c.265C>T (p.His89Tyr)	HELQ, LOC112997542 (H89Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 782246	NM_133636.5(HELQ):c.53A>G (p.Asn18Ser)	HELQ, LOC112997542 (N18S)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition +1 more	GBenign/Likely benign
Select item 780111	NM_133636.5(HELQ):c.106C>T (p.Pro36Ser)	HELQ, LOC112997542 (P36S)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition +1 more	GBenign