NSFL1C[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 3202346	NM_016143.5(NSFL1C):c.1085A>G (p.Asn362Ser)	NSFL1C (N331S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303393	NM_016143.5(NSFL1C):c.968T>A (p.Leu323His)	NSFL1C (L325H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339689	NM_016143.5(NSFL1C):c.920G>A (p.Arg307Lys)	NSFL1C (R307K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202352	NM_016143.5(NSFL1C):c.682G>A (p.Gly228Ser)	NSFL1C (G197S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382681	NM_016143.5(NSFL1C):c.679C>G (p.His227Asp)	NSFL1C (H196D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710948	NM_016143.5(NSFL1C):c.664C>T (p.Leu222Phe)	NSFL1C (L191F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2360374	NM_016143.5(NSFL1C):c.641G>A (p.Arg214His)	NSFL1C (R183H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202351	NM_016143.5(NSFL1C):c.616A>G (p.Asn206Asp)	NSFL1C (N175D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202350	NM_016143.5(NSFL1C):c.440C>A (p.Pro147Gln)	NSFL1C (P149Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258007	NM_016143.5(NSFL1C):c.439C>A (p.Pro147Thr)	NSFL1C (P147T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338397	NM_016143.5(NSFL1C):c.433A>C (p.Ser145Arg)	NSFL1C (S147R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202349	NM_016143.5(NSFL1C):c.421C>A (p.Pro141Thr)	NSFL1C (P141T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202348	NM_016143.5(NSFL1C):c.407G>A (p.Arg136Gln)	NSFL1C (R136Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202347	NM_016143.5(NSFL1C):c.349G>A (p.Glu117Lys)	NSFL1C (E117K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214415	NM_016143.5(NSFL1C):c.348C>G (p.Asn116Lys)	NSFL1C (N116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301146	NM_016143.5(NSFL1C):c.191G>A (p.Gly64Asp)	NSFL1C (G64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729459	NM_016143.5(NSFL1C):c.180A>G (p.Ser60=)	NSFL1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233548	NM_016143.5(NSFL1C):c.151G>C (p.Val51Leu)	NSFL1C (V51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528854	NM_016143.5(NSFL1C):c.85T>C (p.Ser29Pro)	NSFL1C (S29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263455	NM_016143.5(NSFL1C):c.70C>T (p.Arg24Cys)	NSFL1C (R24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301147	NM_016143.5(NSFL1C):c.37G>C (p.Val13Leu)	NSFL1C (V13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1809250	GRCh37/hg19 20p13(chr20:992980-1481478)x4	C20orf202, FKBP1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 395254	GRCh37/hg19 20p13(chr20:1427638-1638273)x3	NSFL1C, SIRPB1 +3 more	Copy number gain	See cases	GLikely benign
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 64