FGD1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 538

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	LOC130068348, LOC130068349 +1164 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	SYP, SYP-AS1 +1164 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	CLCN4, CLCN5 +1155 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	ACE2, ACE2-DT +1131 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	LOC130067990, LOC130067991 +1217 more	Copy number loss	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PAGE4, PAGE5 +1164 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	RBM10, RBM3 +1131 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	ALAS2, APEX2 +162 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	LOC130068353, LOC130068354 +169 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 148338	GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2	ALAS2, APEX2 +93 more	Copy number gain	See cases	GPathogenic
Select item 146617	GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2	ALAS2, APEX2 +92 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 95076	NM_004463.3(FGD1):c.*36C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 2441406	NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln)	FGD1, TSR2 (R958Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1309364	NM_004463.3(FGD1):c.2872C>T (p.Arg958Ter)	FGD1, TSR2 (R958*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2598649	NM_004463.3(FGD1):c.2857G>A (p.Glu953Lys)	FGD1, TSR2 (E953K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2702190	NM_004463.3(FGD1):c.2854C>G (p.Pro952Ala)	FGD1, TSR2 (P952A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2622685	NM_004463.3(FGD1):c.2851C>T (p.Pro951Ser)	FGD1, TSR2 (P951S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273429	NM_004463.3(FGD1):c.2851C>A (p.Pro951Thr)	FGD1, TSR2 (P951T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2504799	NM_004463.3(FGD1):c.2846C>T (p.Ala949Val)	FGD1, TSR2 (A949V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363827	NM_004463.3(FGD1):c.2834T>G (p.Leu945Ter)	FGD1, TSR2 (L945*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1905026	NM_004463.3(FGD1):c.2823G>C (p.Pro941=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1796475	NM_004463.3(FGD1):c.2823G>A (p.Pro941=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589463	NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser)	TSR2, FGD1 (P941S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 287068	NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)	FGD1, TSR2 (E939A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 588692	NM_004463.3(FGD1):c.2805G>A (p.Arg935=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2441408	NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly)	FGD1, TSR2 (R935G)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2838984	NM_004463.3(FGD1):c.2799G>A (p.Glu933=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2506596	NM_004463.3(FGD1):c.2794_2797del (p.Ser932fs)	FGD1, TSR2 (S932fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 167061	NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)	FGD1, TSR2 (P929L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234049	NM_004463.3(FGD1):c.2784dup (p.Pro929fs)	FGD1, TSR2 (P929fs)	Duplication (frameshift variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2660662	NM_004463.3(FGD1):c.2773T>G (p.Phe925Val)	FGD1, TSR2 (F925V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314510	NM_004463.3(FGD1):c.2771C>T (p.Thr924Met)	FGD1, TSR2 (T924M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152612	NM_004463.3(FGD1):c.2761C>A (p.Arg921=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 224655	NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter)	FGD1, TSR2 (R921*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
Select item 589118	NM_004463.3(FGD1):c.2757G>A (p.Ala919=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2535158	NM_004463.3(FGD1):c.2753G>A (p.Arg918Gln)	FGD1, TSR2 (R918Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 283074	NM_004463.3(FGD1):c.2751C>T (p.Gly917=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2864668	NM_004463.3(FGD1):c.2748T>A (p.Leu916=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 996784	NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter)	FGD1, TSR2 (W912*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1189714	NM_004463.3(FGD1):c.2734T>C (p.Trp912Arg)	FGD1, TSR2 (W912R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1795263	NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln)	FGD1, TSR2 (R910Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 547370	NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)	TSR2, FGD1 (R910*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome	GPathogenic/Likely pathogenic
Select item 426885	NM_004463.3(FGD1):c.2719G>T (p.Glu907Ter)	FGD1, TSR2 (E907*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2781854	NM_004463.3(FGD1):c.2717_2718del (p.Glu906fs)	FGD1, TSR2 (E906fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1311147	NM_004463.3(FGD1):c.2693G>A (p.Ser898Asn)	TSR2, FGD1 (S898N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 6