"PreventionGenetics, part of Exact Sciences"[submitter] AND "HRG"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041300	NM_000412.5(HRG):c.81T>C (p.Val27=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 809579	NM_000412.5(HRG):c.125G>A (p.Arg42Gln)	HRG (R42Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3059025	NM_000412.5(HRG):c.539T>C (p.Ile180Thr)	HRG (I180T)	Single nucleotide variant (missense variant)	HRG-related disorder	GBenign
Select item 712515	NM_000412.5(HRG):c.598G>T (p.Val200Leu)	HRG (V200L)	Single nucleotide variant (missense variant)	HRG-related disorder +1 more	GBenign
Select item 1285353	NM_000412.5(HRG):c.610C>T (p.Pro204Ser)	HRG (P204S)	Single nucleotide variant (missense variant)	HRG-related disorder +1 more	GBenign
Select item 3044023	NM_000412.5(HRG):c.770C>T (p.Pro257Leu)	HRG (P257L)	Single nucleotide variant (missense variant)	HRG-related disorder	GBenign
Select item 3058193	NM_000412.5(HRG):c.822C>G (p.Thr274=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 3054255	NM_000412.5(HRG):c.863A>T (p.His288Leu)	HRG (H288L)	Single nucleotide variant (missense variant)	HRG-related disorder	GLikely benign
Select item 712516	NM_000412.5(HRG):c.952C>T (p.Pro318Ser)	HRG (P318S)	Single nucleotide variant (missense variant)	HRG-related disorder +1 more	GBenign
Select item 3056147	NM_000412.5(HRG):c.1019A>G (p.His340Arg)	HRG (H340R)	Single nucleotide variant (missense variant)	HRG-related disorder	GBenign
Select item 712517	NM_000412.5(HRG):c.1051C>A (p.Pro351Thr)	HRG (P351T)	Single nucleotide variant (missense variant)	HRG-related disorder +1 more	GBenign
Select item 3055623	NM_000412.5(HRG):c.1173T>C (p.Pro391=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 809589	NM_000412.5(HRG):c.1306G>A (p.Gly436Arg)	HRG (G436R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3033259	NM_000412.5(HRG):c.1368A>G (p.Gly456=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 3043894	NM_000412.5(HRG):c.1497A>G (p.Ser499=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign