3625[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 2357442	NM_003665.4(FCN3):c.883C>T (p.Arg295Trp)	FCN3 (R284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525557	NM_003665.4(FCN3):c.854G>A (p.Arg285His)	FCN3 (R285H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094168	NM_003665.4(FCN3):c.797G>C (p.Arg266Pro)	FCN3 (R266P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441402	NM_003665.4(FCN3):c.797G>A (p.Arg266His)	FCN3 (R255H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to ficolin3 deficiency	GUncertain significance
Select item 2617267	NM_003665.4(FCN3):c.779G>A (p.Arg260Gln)	FCN3 (R260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216401	NM_003665.4(FCN3):c.779G>C (p.Arg260Pro)	FCN3 (R249P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299279	NM_003665.4(FCN3):c.764A>G (p.Tyr255Cys)	FCN3 (Y244C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710189	NM_003665.4(FCN3):c.750C>T (p.His250=)	FCN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2535533	NM_003665.4(FCN3):c.659G>C (p.Gly220Ala)	FCN3 (G220A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992481	NM_003665.4(FCN3):c.658+250C>A	FCN3	Single nucleotide variant (intron variant)	Rheumatic heart disease	Grisk factor
Select item 3094167	NM_003665.4(FCN3):c.649G>C (p.Gly217Arg)	FCN3 (G217R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1030693	NM_003665.4(FCN3):c.620A>G (p.Tyr207Cys)	FCN3 (Y207C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to ficolin3 deficiency	GUncertain significance
Select item 1305261	NM_003665.4(FCN3):c.596G>A (p.Arg199His)	FCN3 (R188H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2382556	NM_003665.4(FCN3):c.595C>T (p.Arg199Cys)	FCN3 (R188C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493261	NM_003665.4(FCN3):c.565A>G (p.Asn189Asp)	FCN3 (N189D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094166	NM_003665.4(FCN3):c.539G>A (p.Arg180Gln)	FCN3 (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216517	NM_003665.4(FCN3):c.512T>C (p.Leu171Pro)	FCN3 (L160P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285028	NM_003665.4(FCN3):c.498G>C (p.Glu166Asp)	FCN3 (E155D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to ficolin3 deficiency	GLikely benign
Select item 2314800	NM_003665.4(FCN3):c.458G>A (p.Gly153Asp)	FCN3 (G142D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441403	NM_003665.4(FCN3):c.440G>T (p.Trp147Leu)	FCN3 (W136L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to ficolin3 deficiency	GUncertain significance
Select item 3032965	NM_003665.4(FCN3):c.433C>T (p.Arg145Cys)	FCN3 (R134C +1 more)	Single nucleotide variant (missense variant)	FCN3-related disorder	GUncertain significance
Select item 2361621	NM_003665.4(FCN3):c.416G>A (p.Gly139Asp)	FCN3 (G128D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992482	NM_003665.4(FCN3):c.393+178T>A	FCN3	Single nucleotide variant (intron variant)	Rheumatic heart disease	GUncertain significance
Select item 3050683	NM_003665.4(FCN3):c.393+1G>A	FCN3	Single nucleotide variant (splice donor variant)	FCN3-related disorder	GUncertain significance
Select item 813624	NM_003665.4(FCN3):c.386G>A (p.Gly129Asp)	FCN3 (G118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094165	NM_003665.4(FCN3):c.385G>A (p.Gly129Ser)	FCN3 (G129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5285	NM_003665.4(FCN3):c.349del (p.Leu117fs)	FCN3 (L106fs +1 more)	Deletion (frameshift variant)	Immunodeficiency due to ficolin3 deficiency	GUncertain significance
Select item 2550370	NM_003665.4(FCN3):c.305C>A (p.Thr102Asn)	FCN3 (T91N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039088	NM_003665.4(FCN3):c.267C>T (p.Gly89=)	FCN3	Single nucleotide variant (synonymous variant)	FCN3-related disorder	GLikely benign
Select item 1284897	NM_003665.4(FCN3):c.266-7T>C	FCN3	Single nucleotide variant (intron variant)	FCN3-related disorder	GLikely benign
Select item 2458681	NM_003665.4(FCN3):c.254G>A (p.Arg85Gln)	FCN3 (R85Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494189	NM_003665.4(FCN3):c.233G>C (p.Gly78Ala)	FCN3 (G78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 984510	NM_003665.4(FCN3):c.232+1G>A	FCN3	Single nucleotide variant (splice donor variant)	Immunodeficiency due to ficolin3 deficiency +1 more	GUncertain significance
Select item 3094164	NM_003665.4(FCN3):c.209A>G (p.Lys70Arg)	FCN3 (K70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464933	NM_003665.4(FCN3):c.142G>A (p.Gly48Arg)	FCN3 (G48R)	Single nucleotide variant (missense variant)	Immunodeficiency due to ficolin3 deficiency +1 more	GUncertain significance
Select item 3040329	NM_003665.4(FCN3):c.91+9dup	FCN3	Duplication (intron variant)	FCN3-related disorder	GLikely benign
Select item 3043522	NM_003665.4(FCN3):c.9A>G (p.Leu3=)	FCN3	Single nucleotide variant (synonymous variant)	FCN3-related disorder	GLikely benign
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	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 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

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Items: 47