ClinVar for Gene (Select 2782) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373730	NM_002074.5(GNB1):c.109A>G (p.Ile37Val)	GNB1 (I37V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372534	NM_002074.5(GNB1):c.392G>A (p.Gly131Glu)	GNB1 (G131E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370688	NM_002074.5(GNB1):c.513C>G (p.Ile171Met)	GNB1 (I171M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369876	NM_002074.5(GNB1):c.940C>T (p.Arg314Cys)	GNB1 (R214C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369475	NM_002074.5(GNB1):c.295T>C (p.Trp99Arg)	GNB1 (W99R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363353	NM_002074.5(GNB1):c.497G>C (p.Cys166Ser)	GNB1 (C166S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360136	NM_002074.5(GNB1):c.364T>C (p.Ser122Pro)	GNB1 (S122P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359132	NM_002074.5(GNB1):c.833_835del (p.Phe278del)	GNB1 (F178del +1 more)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 3346428	NM_002074.5(GNB1):c.103A>G (p.Asn35Asp)	GNB1 (N35D)	Single nucleotide variant (missense variant +1 more)	GNB1-related disorder	GUncertain significance
Select item 3336890	NM_002074.5(GNB1):c.23G>A (p.Arg8Gln)	GNB1 (R8Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3281766	NM_002074.5(GNB1):c.188G>A (p.Trp63Ter)	GNB1 (W63*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3252438	NM_002074.5(GNB1):c.815G>T (p.Gly272Val)	GNB1 (G172V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247937	NC_000001.10:g.(?_1718770)_(1749334_?)dup	GNB1	Duplication	not provided	GUncertain significance
Select item 3247936	NC_000001.10:g.(?_1749256)_(1961721_?)dup	CALML6, CFAP74 +3 more	Duplication	not provided	GUncertain significance
Select item 3247935	NC_000001.10:g.(?_1718770)_(1961721_?)dup	CALML6, CFAP74 +3 more	Duplication	not provided	GUncertain significance
Select item 3247934	NC_000001.10:g.(?_1718770)_(1756892_?)dup	GNB1	Duplication	not provided	GUncertain significance
Select item 3247933	NC_000001.10:g.(?_1718770)_(2343941_?)del	CALML6, CFAP74 +9 more	Deletion	not provided	GPathogenic
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3242275	GRCh37/hg19 1p36.33(chr1:1800954-2052629)x3	CALML6, CFAP74 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3239511	NM_002074.5(GNB1):c.767G>A (p.Arg256His)	GNB1 (R156H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237184	NM_002074.5(GNB1):c.296G>T (p.Trp99Leu)	GNB1 (W99L)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 3100587	NM_002074.5(GNB1):c.691G>A (p.Ala231Thr)	GNB1 (A131T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066080	NM_002074.5(GNB1):c.332A>G (p.Tyr111Cys)	GNB1 (Y111C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3044252	NM_002074.5(GNB1):c.-8A>G	GNB1	Single nucleotide variant (5 prime UTR variant)	GNB1-related disorder	GLikely benign
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 3014480	NM_002074.5(GNB1):c.684C>T (p.Asp228=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009089	NM_002074.5(GNB1):c.159G>T (p.Gly53=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007661	NM_002074.5(GNB1):c.822C>T (p.Thr274=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005574	NM_002074.5(GNB1):c.430+19A>C	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001438	NM_002074.5(GNB1):c.756G>A (p.Leu252=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001437	NM_002074.5(GNB1):c.925G>A (p.Ala309Thr)	GNB1 (A309T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990724	NM_002074.5(GNB1):c.906C>T (p.Ala302=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990153	NM_002074.5(GNB1):c.917-14T>C	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986106	NM_002074.5(GNB1):c.203+18dup	GNB1	Duplication (intron variant)	not provided	GLikely benign
Select item 2985642	NM_002074.5(GNB1):c.72A>G (p.Ala24=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981094	NM_002074.5(GNB1):c.663C>T (p.Thr221=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978644	NM_002074.5(GNB1):c.930G>T (p.Gly310=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973912	NM_002074.5(GNB1):c.300C>A (p.Val100=)	GNB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2973383	NM_002074.5(GNB1):c.39A>G (p.Gln13=)	GNB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2972098	NM_002074.5(GNB1):c.943G>A (p.Val315Ile)	GNB1 (V215I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971567	NM_002074.5(GNB1):c.168C>T (p.Ala56=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971542	NM_002074.5(GNB1):c.970G>A (p.Gly324Ser)	GNB1 (G224S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963900	NM_002074.5(GNB1):c.203+16A>G	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962194	NM_002074.5(GNB1):c.339C>T (p.Ala113=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961864	NM_002074.5(GNB1):c.497+8C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958529	NM_002074.5(GNB1):c.498-6C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957549	NM_002074.5(GNB1):c.168C>G (p.Ala56=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902430	NM_002074.5(GNB1):c.430+9C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880806	NM_002074.5(GNB1):c.861T>G (p.Ala287=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878613	NM_002074.5(GNB1):c.294C>T (p.Ser98=)	GNB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2873120	NM_002074.5(GNB1):c.203+18C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872993	NM_002074.5(GNB1):c.258C>T (p.Thr86=)	GNB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2857915	NM_002074.5(GNB1):c.510C>G (p.Asp170Glu)	GNB1 (D70E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856955	NM_002074.5(GNB1):c.159G>A (p.Gly53=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856421	NM_002074.5(GNB1):c.438G>A (p.Leu146=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847983	NM_002074.5(GNB1):c.492C>T (p.Thr164=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845761	NM_002074.5(GNB1):c.971G>A (p.Gly324Asp)	GNB1 (G224D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839581	NM_002074.5(GNB1):c.320C>T (p.Pro107Leu)	GNB1 (P107L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2837934	NM_002074.5(GNB1):c.700T>C (p.Phe234Leu)	GNB1 (F234L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829263	NM_002074.5(GNB1):c.581C>T (p.Pro194Leu)	GNB1 (P194L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2825107	NM_002074.5(GNB1):c.498-10C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824337	NM_002074.5(GNB1):c.649A>G (p.Met217Val)	GNB1 (M117V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822074	NM_002074.5(GNB1):c.694A>G (p.Ile232Val)	GNB1 (I132V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819396	NM_002074.5(GNB1):c.471C>T (p.Ile157=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814726	NM_002074.5(GNB1):c.497+13C>A	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812227	NM_002074.5(GNB1):c.55C>G (p.Arg19Gly)	GNB1 (R19G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2805042	NM_002074.5(GNB1):c.97-15G>A	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804145	NM_002074.5(GNB1):c.916+11A>G	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803121	NM_002074.5(GNB1):c.586A>G (p.Thr196Ala)	GNB1 (T96A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799699	NM_002074.5(GNB1):c.849C>T (p.Arg283=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793651	NM_002074.5(GNB1):c.916+19T>C	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789957	NM_002074.5(GNB1):c.97-7T>C	GNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2785713	NM_002074.5(GNB1):c.204-6C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778431	NM_002074.5(GNB1):c.255C>T (p.Tyr85=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2763833	NM_002074.5(GNB1):c.550A>C (p.Thr184Pro)	GNB1 (T184P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758115	NM_002074.5(GNB1):c.706C>T (p.Pro236Ser)	GNB1 (P236S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754518	NM_002074.5(GNB1):c.594G>C (p.Leu198=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748604	NM_002074.5(GNB1):c.888C>A (p.Val296=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746873	NM_002074.5(GNB1):c.366C>T (p.Ser122=)	GNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743792	NM_002074.5(GNB1):c.58-8C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742218	NM_002074.5(GNB1):c.299_327del (p.Val100fs)	GNB1 (V100fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2733819	NM_002074.5(GNB1):c.1009A>C (p.Lys337Gln)	GNB1 (K237Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728824	NM_002074.5(GNB1):c.78A>G (p.Ala26=)	GNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727069	NM_002074.5(GNB1):c.57+11dup	GNB1	Duplication (intron variant)	not provided	GUncertain significance
Select item 2718859	NM_002074.5(GNB1):c.676G>A (p.Glu226Lys)	GNB1 (E126K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2718799	NM_002074.5(GNB1):c.459T>G (p.Asp153Glu)	GNB1 (D53E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707144	NM_002074.5(GNB1):c.58-19C>T	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703061	NM_002074.5(GNB1):c.916+1G>T	GNB1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2701836	NM_002074.5(GNB1):c.184C>T (p.His62Tyr)	GNB1 (H62Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693012	NM_002074.5(GNB1):c.805A>G (p.Ile269Val)	GNB1 (I169V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2685791	GRCh37/hg19 1p36.33(chr1:1616990-1890118)x3	CALML6, CDK11A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic

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