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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044116	NM_001819.3(CHGB):c.279G>A (p.Ser93=)	CHGB	Single nucleotide variant (synonymous variant)	CHGB-related disorder	GBenign
Select item 3037531	NM_001819.3(CHGB):c.351G>C (p.Lys117Asn)	CHGB (K117N)	Single nucleotide variant (missense variant)	CHGB-related disorder	GBenign
Select item 3038932	NM_001819.3(CHGB):c.689A>G (p.His230Arg)	CHGB (H230R)	Single nucleotide variant (missense variant)	CHGB-related disorder	GBenign
Select item 3039823	NM_001819.3(CHGB):c.1051G>A (p.Val351Ile)	CHGB (V351I)	Single nucleotide variant (missense variant)	CHGB-related disorder	GBenign
Select item 712867	NM_001819.3(CHGB):c.1142G>T (p.Trp381Leu)	CHGB (W381L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3044960	NM_001819.3(CHGB):c.1510A>G (p.Lys504Glu)	CHGB (K504E)	Single nucleotide variant (missense variant)	CHGB-related disorder	GBenign
Select item 3035480	NM_001819.3(CHGB):c.1545G>A (p.Arg515=)	CHGB	Single nucleotide variant (synonymous variant)	CHGB-related disorder	GLikely benign
Select item 3053581	NM_001819.3(CHGB):c.1578C>T (p.Tyr526=)	CHGB	Single nucleotide variant (synonymous variant)	CHGB-related disorder	GLikely benign
Select item 3052951	NM_001819.3(CHGB):c.1953C>T (p.Asp651=)	CHGB, LOC126862962	Single nucleotide variant (synonymous variant)	CHGB-related disorder	GLikely benign
Select item 781543	NM_001819.3(CHGB):c.1956+9T>C	CHGB, LOC126862962	Single nucleotide variant (intron variant)	CHGB-related disorder +1 more	GBenign