"GeneDx"[submitter] AND "GNB2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 3368275	NM_005273.4(GNB2):c.-89-9_-64del	GNB2, LOC129998974	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 3378079	NM_005273.4(GNB2):c.143G>A (p.Arg48Gln)	GNB2 (R48Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1707077	NM_005273.4(GNB2):c.151C>A (p.Leu51Ile)	GNB2 (L51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215860	NM_005273.4(GNB2):c.229G>C (p.Gly77Arg)	GNB2 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977754	NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)	GNB2 (G77R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies +2 more	GPathogenic
Select item 1195386	NM_005273.4(GNB2):c.268-11C>G	GNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723526	NM_005273.4(GNB2):c.271C>G (p.His91Asp)	GNB2 (H91D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500412	NM_005273.4(GNB2):c.468A>C (p.Gln156His)	GNB2 (Q156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800883	NM_005273.4(GNB2):c.535G>A (p.Gly179Ser)	GNB2 (G179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712783	NM_005273.4(GNB2):c.691G>A (p.Ala231Thr)	GNB2 (A231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375839	NM_005273.4(GNB2):c.712G>A (p.Gly238Ser)	GNB2 (G238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318509	NM_005273.4(GNB2):c.740A>C (p.Asp247Ala)	GNB2 (D247A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance