"Ambry Genetics"[submitter] AND "GNB5"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100606	NM_016194.4(GNB5):c.1133A>G (p.Asp378Gly)	GNB5 (D284G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030537	NM_016194.4(GNB5):c.1132G>A (p.Asp378Asn)	GNB5 (D284N +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +2 more	GUncertain significance
Select item 3100605	NM_016194.4(GNB5):c.1094G>A (p.Gly365Glu)	GNB5 (G271E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617789	NM_016194.4(GNB5):c.1056G>T (p.Trp352Cys)	GNB5 (W258C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286582	NM_016194.4(GNB5):c.1034A>G (p.Asn345Ser)	GNB5 (N303S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 268102	NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)	GNB5 (Y302* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2538766	NM_016194.4(GNB5):c.954C>G (p.Ile318Met)	GNB5 (I224M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100611	NM_016194.4(GNB5):c.931C>T (p.Arg311Trp)	GNB5 (R269W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470293	NM_016194.4(GNB5):c.916C>T (p.Arg306Cys)	GNB5 (R212C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100610	NM_016194.4(GNB5):c.911C>T (p.Thr304Met)	GNB5 (T304M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470491	NM_016194.4(GNB5):c.911C>A (p.Thr304Lys)	GNB5 (T210K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215513	NM_016194.4(GNB5):c.820G>A (p.Val274Met)	GNB5 (V274M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466567	NM_016194.4(GNB5):c.806G>A (p.Arg269His)	GNB5 (R227H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281773	NM_016194.4(GNB5):c.670G>A (p.Val224Met)	GNB5 (V130M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322088	NM_016194.4(GNB5):c.666G>A (p.Trp222Ter)	GNB5 (W222* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2214296	NM_016194.4(GNB5):c.571G>A (p.Val191Ile)	GNB5 (V191I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100609	NM_016194.4(GNB5):c.488C>T (p.Ala163Val)	GNB5 (A121V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100608	NM_016194.4(GNB5):c.466G>A (p.Ala156Thr)	GNB5 (A114T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100607	NM_016194.4(GNB5):c.424G>A (p.Ala142Thr)	GNB5 (A48T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 268101	NM_016194.4(GNB5):c.375+3A>G	GNB5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 254029	NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)	GNB5 (S81L +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +2 more	GPathogenic
Select item 3281774	NM_016194.4(GNB5):c.350A>C (p.Lys117Thr)	GNB5 (K117T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530172	NM_016194.4(GNB5):c.340T>C (p.Cys114Arg)	GNB5 (C114R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477334	NM_016194.4(GNB5):c.313G>A (p.Gly105Arg)	GNB5 (G63R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281776	NM_016194.4(GNB5):c.283A>C (p.Met95Leu)	GNB5 (M1L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614063	NM_016194.4(GNB5):c.176G>T (p.Ser59Ile)	GNB5, LOC130057083 (S59I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460379	NM_016194.4(GNB5):c.164C>T (p.Ala55Val)	GNB5, LOC130057083 (A13V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307129	NM_016194.4(GNB5):c.26A>G (p.Asn9Ser)	CERNA1, GNB5 (N9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2471293	NM_016194.4(GNB5):c.14C>T (p.Thr5Ile)	CERNA1, GNB5 (T5I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 30