FGD6[gene] - ClinVar

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Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2290096	NM_018351.4(FGD6):c.4111G>A (p.Val1371Met)	FGD6 (V1371M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094686	NM_018351.4(FGD6):c.4033G>A (p.Gly1345Ser)	FGD6 (G1345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094685	NM_018351.4(FGD6):c.3459G>C (p.Lys1153Asn)	FGD6 (K1153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094684	NM_018351.4(FGD6):c.3320G>C (p.Arg1107Pro)	FGD6 (R1107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094682	NM_018351.4(FGD6):c.3196A>G (p.Asn1066Asp)	FGD6 (N1066D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483711	NM_018351.4(FGD6):c.2923A>G (p.Lys975Glu)	FGD6 (K975E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781089	NM_018351.4(FGD6):c.2837+8T>G	FGD6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2322042	NM_018351.4(FGD6):c.2797C>T (p.Arg933Trp)	FGD6 (R933W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273749	NM_018351.4(FGD6):c.2786A>G (p.Tyr929Cys)	FGD6 (Y929C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094677	NM_018351.4(FGD6):c.2746C>T (p.Arg916Trp)	FGD6 (R916W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784253	NM_018351.4(FGD6):c.2655-4A>T	FGD6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3094676	NM_018351.4(FGD6):c.2617C>T (p.His873Tyr)	FGD6 (H873Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218632	NM_018351.4(FGD6):c.2603T>G (p.Met868Arg)	FGD6 (M868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608336	NM_018351.4(FGD6):c.2560G>A (p.Glu854Lys)	FGD6 (E854K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094675	NM_018351.4(FGD6):c.2487C>A (p.Asp829Glu)	FGD6 (D829E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408797	NM_018351.4(FGD6):c.2444C>T (p.Ser815Leu)	FGD6 (S815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297622	NM_018351.4(FGD6):c.2390A>G (p.Tyr797Cys)	FGD6, LOC124646383 (Y797C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559582	NM_018351.4(FGD6):c.2384A>T (p.Glu795Val)	FGD6, LOC124646383 (E795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515883	NM_018351.4(FGD6):c.2257C>T (p.His753Tyr)	FGD6 (H753Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094673	NM_018351.4(FGD6):c.2254C>T (p.Arg752Cys)	FGD6 (R752C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469982	NM_018351.4(FGD6):c.2237C>T (p.Pro746Leu)	FGD6 (P746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094672	NM_018351.4(FGD6):c.2231G>C (p.Cys744Ser)	FGD6 (C744S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237621	NM_018351.4(FGD6):c.2144A>G (p.Asn715Ser)	FGD6 (N715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343329	NM_018351.4(FGD6):c.2122C>T (p.Arg708Trp)	FGD6 (R708W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094671	NM_018351.4(FGD6):c.2054G>T (p.Ser685Ile)	FGD6 (S685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277207	NM_018351.4(FGD6):c.2035G>T (p.Val679Leu)	FGD6 (V679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094670	NM_018351.4(FGD6):c.1963G>A (p.Gly655Arg)	FGD6 (G655R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094669	NM_018351.4(FGD6):c.1918A>T (p.Met640Leu)	FGD6 (M640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411470	NM_018351.4(FGD6):c.1894A>G (p.Ser632Gly)	FGD6 (S632G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094668	NM_018351.4(FGD6):c.1837A>C (p.Lys613Gln)	FGD6 (K613Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205544	NM_018351.4(FGD6):c.1651G>A (p.Val551Met)	FGD6 (V551M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281878	NM_018351.4(FGD6):c.1642A>C (p.Asn548His)	FGD6 (N548H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281877	NM_018351.4(FGD6):c.1641A>C (p.Gln547His)	FGD6 (Q547H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285190	NM_018351.4(FGD6):c.1640A>C (p.Gln547Pro)	FGD6 (Q547P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539506	NM_018351.4(FGD6):c.1633T>C (p.Cys545Arg)	FGD6 (C545R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094667	NM_018351.4(FGD6):c.1605T>A (p.Ser535Arg)	FGD6 (S535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094666	NM_018351.4(FGD6):c.1579A>C (p.Ser527Arg)	FGD6 (S527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094665	NM_018351.4(FGD6):c.1546G>A (p.Glu516Lys)	FGD6 (E516K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460861	NM_018351.4(FGD6):c.1489A>C (p.Lys497Gln)	FGD6 (K497Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354573	NM_018351.4(FGD6):c.1333G>A (p.Gly445Ser)	FGD6 (G445S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406462	NM_018351.4(FGD6):c.1259A>T (p.Lys420Ile)	FGD6 (K420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394723	NM_018351.4(FGD6):c.1255G>A (p.Asp419Asn)	FGD6 (D419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094664	NM_018351.4(FGD6):c.1211T>C (p.Met404Thr)	FGD6 (M404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781817	NM_018351.4(FGD6):c.1208C>T (p.Ala403Val)	FGD6 (A403V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2234131	NM_018351.4(FGD6):c.1207G>A (p.Ala403Thr)	FGD6 (A403T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339626	NM_018351.4(FGD6):c.1112A>G (p.Lys371Arg)	FGD6 (K371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282042	NM_018351.4(FGD6):c.1097A>G (p.Gln366Arg)	FGD6 (Q366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094662	NM_018351.4(FGD6):c.1084A>G (p.Ser362Gly)	FGD6 (S362G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094661	NM_018351.4(FGD6):c.1065T>A (p.Ser355Arg)	FGD6 (S355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463171	NM_018351.4(FGD6):c.1022C>T (p.Pro341Leu)	FGD6 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522090	NM_018351.4(FGD6):c.1008A>C (p.Glu336Asp)	FGD6 (E336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364562	NM_018351.4(FGD6):c.971G>A (p.Arg324His)	FGD6 (R324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237551	NM_018351.4(FGD6):c.827A>G (p.Glu276Gly)	FGD6 (E276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094689	NM_018351.4(FGD6):c.790A>G (p.Asn264Asp)	FGD6 (N264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600443	NM_018351.4(FGD6):c.788G>A (p.Ser263Asn)	FGD6 (S263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568639	NM_018351.4(FGD6):c.739A>G (p.Ser247Gly)	FGD6 (S247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728883	NM_018351.4(FGD6):c.683C>A (p.Ser228Tyr)	FGD6 (S228Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246234	NM_018351.4(FGD6):c.616C>T (p.Pro206Ser)	FGD6 (P206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094688	NM_018351.4(FGD6):c.614G>A (p.Ser205Asn)	FGD6 (S205N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246716	NM_018351.4(FGD6):c.583A>G (p.Ile195Val)	FGD6 (I195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609018	NM_018351.4(FGD6):c.573G>A (p.Met191Ile)	FGD6 (M191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514051	NM_018351.4(FGD6):c.550A>C (p.Lys184Gln)	FGD6 (K184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528841	NM_018351.4(FGD6):c.540A>C (p.Glu180Asp)	FGD6 (E180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094687	NM_018351.4(FGD6):c.532G>A (p.Val178Ile)	FGD6 (V178I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094683	NM_018351.4(FGD6):c.325A>G (p.Met109Val)	FGD6 (M109V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094681	NM_018351.4(FGD6):c.314A>G (p.Tyr105Cys)	FGD6 (Y105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094679	NM_018351.4(FGD6):c.301C>A (p.Gln101Lys)	FGD6 (Q101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094678	NM_018351.4(FGD6):c.298A>C (p.Asn100His)	FGD6 (N100H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094674	NM_018351.4(FGD6):c.230T>C (p.Leu77Ser)	FGD6 (L77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613296	NM_018351.4(FGD6):c.152C>T (p.Ala51Val)	FGD6 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094691	NM_018351.4(FGD6):c.88A>G (p.Ile30Val)	FGD6 (I30V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350296	NM_018351.4(FGD6):c.56T>C (p.Val19Ala)	FGD6 (V19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365994	NM_018351.4(FGD6):c.37G>A (p.Ala13Thr)	FGD6 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340322	GRCh37/hg19 12q22(chr12:95475366-95601325)x1	FGD6	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 226229	GRCh37/hg19 12q22(chr12:95530434-95627379)	VEZT, FGD6	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 80