FGGY[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +275 more	Copy number loss	See cases	GPathogenic
Select item 153969	GRCh38/hg38 1p32.1(chr1:59289598-59517821)x1	FGGY, LOC126805740 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3094837	NM_018291.5(FGGY):c.40G>A (p.Gly14Ser)	FGGY (G14S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3094840	NM_018291.5(FGGY):c.68G>A (p.Arg23His)	FGGY (R23H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3094828	NM_018291.5(FGGY):c.113A>G (p.Asp38Gly)	FGGY (D38G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2490065	NM_018291.5(FGGY):c.163T>C (p.Ser55Pro)	FGGY (S55P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2240578	NM_018291.5(FGGY):c.283C>G (p.Gln95Glu)	FGGY (Q39E +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3094833	NM_018291.5(FGGY):c.285G>C (p.Gln95His)	FGGY (S12T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2218515	NM_018291.5(FGGY):c.292C>A (p.Pro98Thr)	FGGY (P42T +1 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3094835	NM_018291.5(FGGY):c.314G>A (p.Gly105Glu)	FGGY (G105E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3094836	NM_018291.5(FGGY):c.323A>G (p.His108Arg)	FGGY (H52R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3094838	NM_018291.5(FGGY):c.463G>A (p.Glu155Lys)	FGGY (E99K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588760	NM_018291.5(FGGY):c.464A>G (p.Glu155Gly)	FGGY (E155G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403091	NM_018291.5(FGGY):c.494C>T (p.Ala165Val)	FGGY (A109V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359892	NM_018291.5(FGGY):c.526T>C (p.Ser176Pro)	FGGY (S42P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400892	NM_018291.5(FGGY):c.548C>G (p.Thr183Arg)	FGGY (T95R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153604	GRCh38/hg38 1p32.1(chr1:59383801-59586381)x1	FGGY, LOC129388535 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2370823	NM_018291.5(FGGY):c.613A>T (p.Ser205Cys)	FGGY (S149C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352794	NM_018291.5(FGGY):c.614G>A (p.Ser205Asn)	FGGY (S205N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094839	NM_018291.5(FGGY):c.638A>G (p.Glu213Gly)	FGGY (E101G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533709	NM_018291.5(FGGY):c.710G>A (p.Gly237Glu)	FGGY (G125E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094841	NM_018291.5(FGGY):c.737T>C (p.Leu246Pro)	FGGY (L158P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395165	NM_018291.5(FGGY):c.752G>A (p.Gly251Glu)	FGGY (G117E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520647	NM_018291.5(FGGY):c.758C>T (p.Ala253Val)	FGGY (A119V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152754	GRCh38/hg38 1p32.1(chr1:59546891-59580685)x1	FGGY	Copy number loss	See cases	GUncertain significance
Select item 2302488	NM_018291.5(FGGY):c.829G>A (p.Gly277Ser)	FGGY (G189S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208995	NM_018291.5(FGGY):c.863G>A (p.Arg288Gln)	FGGY (R176Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486539	NM_018291.5(FGGY):c.898A>T (p.Met300Leu)	FGGY (M166L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094843	NM_018291.5(FGGY):c.911A>G (p.Lys304Arg)	FGGY (K248R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251196	NM_018291.5(FGGY):c.917C>T (p.Pro306Leu)	FGGY (P172L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094844	NM_018291.5(FGGY):c.925G>C (p.Val309Leu)	FGGY (V197L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638847	NM_018291.5(FGGY):c.979A>C (p.Asn327His)	FGGY (N193H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3094845	NM_018291.5(FGGY):c.992A>G (p.Gln331Arg)	FGGY (Q32R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 2638848	NM_018291.5(FGGY):c.1221+2T>C	FGGY	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2462843	NM_018291.5(FGGY):c.1221+2921T>C	FGGY (L413P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3094829	NM_018291.5(FGGY):c.1221+2938G>A	FGGY (A307T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340331	NM_018291.5(FGGY):c.1222G>T (p.Val408Phe)	FGGY (V109F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539962	NM_018291.5(FGGY):c.1334C>G (p.Ala445Gly)	FGGY (A381G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254255	NM_018291.5(FGGY):c.1345A>G (p.Ile449Val)	FGGY (I385V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094830	NM_018291.5(FGGY):c.1346T>A (p.Ile449Asn)	FGGY (I361N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094831	NM_018291.5(FGGY):c.1516G>A (p.Ala506Thr)	FGGY (A207T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094832	NM_018291.5(FGGY):c.1565A>G (p.Gln522Arg)	FGGY (Q388R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 2274015	NM_018291.5(FGGY):c.1619A>C (p.His540Pro)	FGGY (H484P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063410	GRCh37/hg19 1p32.1-31.3(chr1:59121165-62057570)x1	C1orf87, CYP2J2 +5 more	Copy number loss	not specified	GPathogenic
Select item 1340820	GRCh37/hg19 1p32.1(chr1:60004764-60058706)x1	FGGY	Copy number loss	not provided	GLikely benign
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 979901	GRCh37/hg19 1p32.1(chr1:59885891-59975763)x1	FGGY	Copy number loss	not provided	GUncertain significance
Select item 979900	GRCh37/hg19 1p32.1(chr1:60011125-60143287)x1	FGGY	Copy number loss	not provided	GLikely benign
Select item 929333	GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3	DAB1, FGGY +4 more	Copy number gain	See cases	GUncertain significance
Select item 814085	GRCh37/hg19 1p32.1(chr1:59936246-59992647)x1	FGGY	Copy number loss	not provided	GUncertain significance
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565101	GRCh37/hg19 1p32.1(chr1:59724931-60081897)x1	FGGY	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221778	GRCh37/hg19 1p32.1(chr1:59891821-61162222)x3	C1orf87, CYP2J2 +2 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 65