ClinVar for Gene (Select 6624) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280011	NM_003088.4(FSCN1):c.324C>G (p.His108Gln)	FSCN1 (H108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280010	NM_003088.4(FSCN1):c.1175A>G (p.His392Arg)	FSCN1 (H392R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280009	NM_003088.4(FSCN1):c.800C>G (p.Ala267Gly)	FSCN1 (A267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280008	NM_003088.4(FSCN1):c.774G>C (p.Gln258His)	FSCN1 (Q258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3097137	NM_003088.4(FSCN1):c.562G>A (p.Val188Met)	FSCN1 (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097136	NM_003088.4(FSCN1):c.311A>G (p.Gln104Arg)	FSCN1 (Q104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097135	NM_003088.4(FSCN1):c.259C>G (p.Pro87Ala)	FSCN1 (P87A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097134	NM_003088.4(FSCN1):c.212C>A (p.Ala71Glu)	FSCN1 (A71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097133	NM_003088.4(FSCN1):c.1340C>T (p.Thr447Ile)	FSCN1 (T447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097132	NM_003088.4(FSCN1):c.1237G>C (p.Val413Leu)	FSCN1 (V413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062987	GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3	ACTB, FBXL18 +4 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2623702	NM_003088.4(FSCN1):c.1198G>A (p.Val400Ile)	FSCN1 (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619237	NM_003088.4(FSCN1):c.655G>A (p.Gly219Ser)	FSCN1 (G219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547356	NM_003088.4(FSCN1):c.1417G>A (p.Asp473Asn)	FSCN1 (D473N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511119	NM_003088.4(FSCN1):c.1402C>T (p.Arg468Cys)	FSCN1 (R468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507907	NM_003088.4(FSCN1):c.1015G>A (p.Glu339Lys)	FSCN1 (E339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490671	NM_003088.4(FSCN1):c.400G>C (p.Val134Leu)	FSCN1 (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397785	NM_003088.4(FSCN1):c.947C>T (p.Thr316Met)	FSCN1 (T316M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2374457	NM_003088.4(FSCN1):c.1462G>A (p.Ala488Thr)	FSCN1 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372123	NM_003088.4(FSCN1):c.194A>C (p.His65Pro)	FSCN1 (H65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370112	NM_003088.4(FSCN1):c.1350C>G (p.Asp450Glu)	FSCN1 (D450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367139	NM_003088.4(FSCN1):c.1399G>A (p.Gly467Arg)	FSCN1 (G467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327087	NM_003088.4(FSCN1):c.808G>A (p.Glu270Lys)	FSCN1 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258290	NM_003088.4(FSCN1):c.1349A>T (p.Asp450Val)	FSCN1 (D450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205123	NM_003088.4(FSCN1):c.923G>A (p.Arg308His)	FSCN1 (R308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 688102	GRCh37/hg19 7p22.1(chr7:5606650-6185838)x3	AIMP2, CCZ1 +7 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685097	GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3	WIPI2, ACTB +13 more	Copy number gain	not provided	GPathogenic
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563347	GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3	RNF216, RSPH10B +3 more	Copy number gain	not provided	GLikely pathogenic
Select item 563331	GRCh37/hg19 7p22.1(chr7:5626053-5934779)x3	FSCN1, OCM +1 more	Copy number gain	not provided	GUncertain significance
Select item 563329	GRCh37/hg19 7p22.1(chr7:5340345-5641546)x1	FSCN1, ACTB +3 more	Copy number loss	not provided	GUncertain significance
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442979	GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3	ACTB, FBXL18 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150143	GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4	ACTB, FBXL18 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146321	GRCh38/hg38 7p22.1(chr7:5578185-5775451)x1	FSCN1, LOC110121162 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76