"GeneDx"[submitter] AND "HRG"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 453207	NM_000412.5(HRG):c.99del (p.Ala34fs)	HRG (A34fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1234952	NM_000412.5(HRG):c.184-11G>T	HRG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504898	NM_000412.5(HRG):c.472G>A (p.Ala158Thr)	HRG, HRG-AS1 (A158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303235	NM_000412.5(HRG):c.733G>A (p.Asp245Asn)	HRG (D245N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216073	NM_000412.5(HRG):c.868del (p.His290fs)	HRG (H290fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic