ClinVar for Gene (Select 8110) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085459	NM_001280542.3(DPF3):c.853G>A (p.Ala285Thr)	DPF3 (A285T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085458	NM_001280542.3(DPF3):c.829C>T (p.Arg277Trp)	DPF3 (R277W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085457	NM_001280542.3(DPF3):c.809A>G (p.Asn270Ser)	DPF3 (N280S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085456	NM_001280542.3(DPF3):c.677A>T (p.Glu226Val)	DPF3 (E236V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085455	NM_001280542.3(DPF3):c.589C>T (p.Pro197Ser)	DPF3 (P197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085454	NM_001280542.3(DPF3):c.582C>A (p.His194Gln)	DPF3 (H204Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085453	NM_001280542.3(DPF3):c.532G>A (p.Gly178Ser)	DPF3 (G178S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085452	NM_001280542.3(DPF3):c.238C>T (p.Arg80Cys)	DPF3 (R90C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085451	NM_001280542.3(DPF3):c.109G>A (p.Val37Met)	DPF3 (V92M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085450	NM_001280542.3(DPF3):c.871+3078A>G	DPF3 (T405A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684734	GRCh37/hg19 14q24.2(chr14:73285307-73708676)x3	DCAF4, DPF3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2623069	NM_001280542.3(DPF3):c.811A>T (p.Met271Leu)	DPF3 (M271L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517590	NM_001280542.3(DPF3):c.523C>T (p.Arg175Trp)	DPF3 (R230W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512140	NM_001280542.3(DPF3):c.271C>G (p.Pro91Ala)	DPF3 (P101A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476614	NM_001280542.3(DPF3):c.871+3020G>C	DPF3 (E330D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475226	NM_001280542.3(DPF3):c.76A>C (p.Ser26Arg)	DPF3 (S36R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464411	NM_001280542.3(DPF3):c.529C>T (p.Arg177Cys)	DPF3 (R232C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460759	NM_001280542.3(DPF3):c.755C>T (p.Pro252Leu)	DPF3 (P252L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409550	NM_001280542.3(DPF3):c.154A>G (p.Asn52Asp)	DPF3 (N62D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403305	NM_001280542.3(DPF3):c.269A>T (p.Asp90Val)	DPF3 (D90V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393764	NM_001280542.3(DPF3):c.426A>G (p.Ile142Met)	DPF3 (I142M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361394	NM_001280542.3(DPF3):c.871+2959C>T	DPF3 (T320M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319895	NM_001280542.3(DPF3):c.40G>A (p.Asp14Asn)	DPF3 (D14N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284459	NM_001280542.3(DPF3):c.433G>A (p.Val145Ile)	DPF3 (V145I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246626	NM_001280542.3(DPF3):c.871+2937G>T	DPF3 (A303S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807977	GRCh37/hg19 14q24.2(chr14:73216923-73758752)x3	DCAF4, DPF3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340204	GRCh37/hg19 14q24.2(chr14:73336295-73666940)x3	DCAF4, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1238152	NM_001280542.3(DPF3):c.253T>C (p.Leu85=)	DPF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980610	GRCh37/hg19 14q24.2(chr14:73337224-73617867)x3	PSEN1, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564112	GRCh37/hg19 14q24.2(chr14:73264012-73621110)x3	DPF3, PSEN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 151236	GRCh38/hg38 14q24.2(chr14:72557579-72709419)x3	DPF3, LOC126861992 +3 more	Copy number gain	See cases	GUncertain significance
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 43