"GNB1L-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050952	NM_053004.3(GNB1L):c.933G>A (p.Ala311=)	GNB1L	Single nucleotide variant (synonymous variant)	GNB1L-related disorder	GLikely benign
Select item 3045918	NM_053004.3(GNB1L):c.930C>T (p.Ala310=)	GNB1L	Single nucleotide variant (synonymous variant)	GNB1L-related disorder	GLikely benign
Select item 3049741	NM_053004.3(GNB1L):c.912C>T (p.Thr304=)	GNB1L	Single nucleotide variant (synonymous variant)	GNB1L-related disorder	GLikely benign
Select item 3042211	NM_053004.3(GNB1L):c.851C>T (p.Thr284Met)	GNB1L (T284M)	Single nucleotide variant (missense variant)	GNB1L-related disorder	GBenign
Select item 714836	NM_053004.3(GNB1L):c.834C>T (p.Arg278=)	GNB1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 711009	NM_053004.3(GNB1L):c.810C>T (p.Thr270=)	GNB1L	Single nucleotide variant (synonymous variant)	GNB1L-related disorder +1 more	GBenign
Select item 3060781	NM_053004.3(GNB1L):c.715T>G (p.Trp239Gly)	GNB1L (W239G)	Single nucleotide variant (missense variant)	GNB1L-related disorder	GBenign
Select item 3040030	NM_053004.3(GNB1L):c.517-5C>T	GNB1L	Single nucleotide variant (intron variant)	GNB1L-related disorder	GLikely benign
Select item 2628487	NM_053004.3(GNB1L):c.226A>T (p.Thr76Ser)	GNB1L (T76S)	Single nucleotide variant (missense variant)	GNB1L-related disorder	GUncertain significance
Select item 3044503	NM_053004.3(GNB1L):c.208T>C (p.Cys70Arg)	GNB1L (C70R)	Single nucleotide variant (missense variant)	GNB1L-related disorder	GBenign
Select item 379834	NM_053004.3(GNB1L):c.170G>A (p.Arg57Gln)	GNB1L (R57Q)	Single nucleotide variant (missense variant)	GNB1L-related disorder +1 more	GLikely benign
Select item 3059653	NM_053004.3(GNB1L):c.110G>A (p.Arg37His)	GNB1L (R37H)	Single nucleotide variant (missense variant)	GNB1L-related disorder	GBenign
Select item 769144	NM_053004.3(GNB1L):c.88G>A (p.Glu30Lys)	GNB1L (E30K)	Single nucleotide variant (missense variant)	GNB1L-related disorder +1 more	GBenign
Select item 3037370	NM_053004.3(GNB1L):c.5C>T (p.Thr2Met)	GNB1L (T2M)	Single nucleotide variant (missense variant)	GNB1L-related disorder	GBenign