"GeneDx"[submitter] AND "CERNA1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 1277738	NM_016194.4(GNB5):c.127-197C>G	CERNA1, GNB5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1194949	NM_016194.4(GNB5):c.127-340C>A	CERNA1, GNB5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1218201	NM_016194.4(GNB5):c.127-384G>C	CERNA1, GNB5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1277164	NM_016194.4(GNB5):c.126+268G>T	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326436	NM_016194.4(GNB5):c.61C>T (p.Arg21Ter)	CERNA1, GNB5 (R21*)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 770786	NM_016194.4(GNB5):c.22G>A (p.Val8Ile)	CERNA1, GNB5 (V8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1235093	NM_016194.4(GNB5):c.-18-270A>G	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213395	NM_016194.4(GNB5):c.-18-311T>C	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284059	NM_016194.4(GNB5):c.-18-319G>A	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244293	NM_016194.4(GNB5):c.-65T>C	CERNA1, GNB5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign